1.1|5|13|13|1pter-p36.13|CTRCT8, CCV|P|Cataract, congenital, Volkmann type||115665|Fd|linked to Rh in Scottish family||Cataract 8, multiple types (2)| | ||
1.2|9|25|01|1p36.23|ENO1, PPH, MPB1|C|Enolase-1, alpha||172430|S, F, R, REa|||Enolase deficiency (1)| | |4(Eno1)|
1.3|12|22|87|1pter-p36|ERPL1, HLM2|C|Endogenous retroviral pol gene-like sequence 1 (oncogene HLM2)||131190|REa, F|||| | ||
1.4|4|14|11|1p36.11|HMGCL|P|3-hydroxy-3-methylglutaryl-Coenzyme A lyase||613898|REa, A|||HMG-CoA lyase deficiency, 246450 (3)| | |4(Hmgcl)|
1.5|11|3|09|1p36.33|AGRN|P|Agrin||103320|REa|||Myasthenia, limb-girdle, familial, 254300 (3)| | |4(Agrn)|
1.6|3|15|92|1p36.33|GNB1|C|Guanine nucleotide-binding protein, beta polypeptide-1||139380|REa, A|||| | |4(Gnb1)|
1.7|10|2|07|1p35.2|SDC3, SYND3, SDCN|C|Syndecan 3||186357|REc, R, H|||{Obesity, association with}, 601665 (3)| | |4(Synd3)|
1.8|8|28|98|1pter-p22.1|SAI1, MTS1, TFS1|C|Suppression of anchorage independence-1 (malignant transformation|suppression-1)|154280|S, H|||| | |4(Tfs1)|
1.9|10|6|08|1p36.33|ATAD3A|P|ATPase family, AAA domain-containing, member 3A||612316|REc|||| | ||
1.10|10|6|08|1p36.33|ATAD3B, TOB3, KIAA1273|C|ATPase family, AAA domain-containing, member 3B||612317|R, REC|||| | ||
1.11|5|6|13|1p36.33|C1orf86, FAAP20|P|Chromosome 1 open reading frame 86||615183|REc|||| | ||
1.12|7|3|06|1p36.33|CALML6, CAGLP|P|Calmodulin-like 6||610171|REc|||| | ||
1.13|9|30|10|1p36.33|CCNL2|P|Cyclin L2||613482|REc|||| | |4(Ccnl2)|
1.14|11|1|13|1p36.33|GLTPD1, CPTP|P|Glycolipid transfer protein domain-containing protein 1||615467|REc|||| | ||
1.15|7|17|09|1p36.33|ISG15, G1P2, IFI15|P|ISG15 ubiquitin-like modifier||147571|REa, REc|||| | ||
1.16|3|23|09|1p36.33|MIR200A, MIRN200A|P|Micro RNA 200A||612090|REc|||| | ||
1.17|3|23|09|1p36.33|MIR200B, MIRN200B|P|Micro RNA 200B||612091|REc|||| | ||
1.18|3|23|09|1p36.33|MIR429, MIRN429|P|Micro RNA 429||612094|REc|||| | ||
1.19|2|20|07|1p36.33|NOC2L, NIR|P|Nucleolar complex-associated protein 2, S. cerevisiae, homolog of||610770|REc|||| | ||
1.20|10|10|11|1p36.33|SDF4, CAB45|P|Stromal cell-derived factor 4||614282|REc|||| | ||
1.21|4|24|01|1p36.33|TAS1R3, T1R3|C|Taste receptor type 1, member 3||605865|REn, REc|||| | |4(Tas1r3)|
1.22|10|27|89|1p36.23|CA6|C|Carbonic anhydrase VI||114780|REa, A, REc, R|||| | ||
1.23|2|18|08|1p36.33|NADK|P|NAD kinase||611616|REc|||| | ||
1.24|7|18|06|1p36.32|ACTRT2, ARPT2, ARPM2|P|Actin-related protein T2||608535|REc|||| | ||
1.25|5|21|07|1p36.32|AJAP1, SHREW1|P|Adherens junction-associated protein 1||610972|R, REc|||| | ||
1.26|8|29|13|1p36.33|MIB2|C|Mindbonb, Drosophila, homolog of, 2||611141|A, REc|||| | ||
1.27|4|8|13|1p36.32|MIR551A|P|Micro RNA 551A||615148|REc|||| | ||
1.28|10|25|12|1p36.32|PEX10, NALD, PBD6A, PBD6B|C|Peroxisome biogenesis factor 10||602859|REc|||Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3);|Peroxisome biogenesis disorder 6B, 614871 (3) | ||
1.29|7|9|09|1p36.32|PLCH2, PLCL4|P|Phospholipase C, eta-2||612836|REc|||| | ||
1.30|4|8|03|1p36.32-p36.13|DYT13|P|Dystonia 13, torsion||607671|Fd|||Dystonia 13, torsion (2)| | ||
1.31|4|16|11|1p36.32-p35.3|KONDS|P|Kondoh syndrome (mental retardation, microcephaly, growth retardation,|joint contractures, and facial dysmorphism)|606242|Fd|linked to rs966321 and rs1441834||Kondoh syndrome (2)| | ||
1.32|10|5|11|1p36.31|GPR153|P|G protein-coupled receptor 153||614269|REc|||| | |4(Gpr153)|
1.33|3|24|06|1p36.31|HES2|P|Hairy/enhancer of split, Drosophila, homolog of, 2||609970|REc|||| | ||
1.34|3|24|06|1p36.31|HES3|P|Hairy/enhancer of split, Drosophila, homolog of, 3||609971|REc|||| | ||
1.35|3|24|06|1p36.33|HES4|P|Hairy/enhancer of split, Drosophila, homolog of, 4||608060|REc|||| | ||
1.36|3|24|06|1p36.32|HES5|P|Hairy/enhancer of split, Drosophila, homolog of, 5||607348|REc|||| | ||
1.37|1|20|09|1p36.31|THAP3|P|THAP domain-containing protein 3||612532|REc|||| | ||
1.38|11|4|93|1p36.31|RPL22, EAP|C|Ribosomal protein L22||180474|Ch, REc|fused with AML1 in t(3;21)||| | ||
1.39|9|18|12|1p36.31|DNAJC11|P|DNAJ/HSP40 homolog, subfamily C, member 11||614827|REc|||| | ||
1.40|1|5|12|1p36.31-p36.13|DFNB96|P|Deafness, autosomal recessive 96||614414|Fd|between rs3817914 and rs477558||Deafness, autosomal recessive 96 (2)| | ||
1.41|8|18|12|1p36.33|AURKAIP1, AKIP, AIP|P|Aurora kinase A-interacting protein 1||609183|R, REc|||| | ||
1.42|8|2|13|1p36.33|B3GALT6, SEMDJL1, EDSP2|P|UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6||615291|REc|||Spondyloepimetaphyseal dysplasia with joint laxity, type 1,|with or without fractures, 271640 (3); Ehlers-Danlos syndrome, progeroid type, 2, 615349 (3)| |4(B3galt6)|
1.43|1|27|11|1p36.33|CDK11B, CDC2L1, P58, CDK11|C|Cyclin-dependent kinase 11B||176873|REa, A, Pcm, A|||| | ||
1.44|1|27|11|1p36.33|CDK11A, CDC2L2|P|Cyclin-dependent kinase 11A||116951|A|||| | ||
1.45|8|4|99|1p36.32|DFFB, CAD, DFF2|C|DNA fragmentation factor, 40kD, beta subunit||601883|A|||| | ||
1.46|9|11|12|1p36.33|GABRD, GEFSP5, EIG10, EJM7|C|Gamma-aminobutyric acid (GABA) A receptor, delta||137163|REa, R, REc|||{Epilepsy, generalized, with febrile seizures plus, type 5,|susceptibility to}, 613060 (3); {Epilepsy, idiopathic generalized, 10}, 613060 (3); {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3)| ||
1.47|12|24|08|1p36.32|MEGF6, EGFL3|P|Multiple epidermal growth factor-like domains 6||604266|R|||| | ||
1.48|6|15|99|1p36.33|TNFRSF18, AITR, GITR|P|Tumor necrosis factor receptor superfamily, member 18||603905|R|||| | ||
1.49|3|30|99|1p36.31|KCNAB2, KCNA2B|P|Potassium voltage-gated channel, shaker-related subfamily, beta|member 2|601142|A|||| | ||
1.50|11|1|99|1p36.33|MMP23A, MMP21, MIFR|P|Matrix metalloproteinase 23A||603320|REc|||| | ||
1.51|11|1|99|1p36.33|MMP23B, MMP22|P|Matrix metalloproteinase 23B||603321|REc|||| | ||
1.52|1|12|11|1p36.22|MTHFR|P|Methylenetetrahydrofolate reductase||607093|A|||Homocystinuria due to MTHFR deficiency, 236250 (3); {Schizophrenia,|susceptibility to}, 181500 (3); {Vascular disease, susceptibility to} (3); {Neural tube defects, susceptibility to}, 601634 (3); {Thromboembolism,|susceptibility to}, 188050 (3) |4(Mthfr)|
1.53|9|9|13|1p36.32|PRDM16, MEL1, LVNC8, CMD1LL|P|PR domain-containing protein 16||605557|REc, Ch|||Left ventricular noncompaction 8, 615373 (3); Cardiomyopathy,|dilated, 1LL, 615373 (3) | ||
1.54|8|9|99|1p36.3|PTPRZ2|P|Protein-tyrosine phosphatase, receptor-type, zeta-2||604008|A|||| | ||
1.55|1|20|98|1p36.13|RNU1A, RNU1|C|RNA, U1A small nuclear||180680|REa, A|?same as A12M2||| | |3(Rnu1b1)|
1.56|10|5|12|1p36.33|SKI, SGS|C|Avian sarcoma viral (v-ski) oncogene homolog||164780|REa, A, Ch|formerly mapped to 1q22-q24||Shprintzen-Goldberg syndrome, 182212 (3)| | ||
1.57|12|23|02|1p36.31|TNFRSF25, TNFRSF12, DR3, LARD|C|Tumor necrosis factor receptor superfamily, member 25||603366|A, Ch|||| | ||
1.58|9|28|10|1p36.22|UBE4B, UFD2A, KIAA0684|P|Ubiquitination factor E4B||613565|REc|||| | ||
1.59|4|6|13|1p36.22|UBIAD1, TERE1, SCCD|C|UbiA prenyltransferase domain-containing protein 1||611632|A, Fd|||Corneal dystrophy, Schnyder type, 121800 (3)| | ||
1.60|3|20|08|1p36.33|VWA1, WARP|P|von Willebrand factor A domain-containing protein 1||611901|REc|||| | ||
1.61|6|20|01|1p36.32|WDR8|P|WD repeat-containing protein 8||606040|A|||| | ||
1.62|11|22|13|1p36.31|ZBTB48, HKR3|C|Zinc finger- and BTB domain-containing protein 48||165270|REa, A|||| | ||
1.63|2|6|94|1p36.12|HTR1D|C|5-hydroxytryptamine (serotonin) receptor-1D||182133|REa, A|||| | |4(Htr1d)|
1.64|6|10|98|1p36.22|DFFA, DFF1|C|DNA fragmentation factor, 45kD, alpha subunit||601882|A|||| | ||
1.65|3|10|11|1p36.22|MASP2|P|Mannan-binding lectin serine protease 2||605102|A, R|||MASP2 deficiency, 613791 (3)| | ||
1.66|1|4|13|1p36.22|PLOD1, LH1, LLH, EDS6|P|Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase)||153454|REa, A|||Ehlers-Danlos syndrome, type VI, 225400 (3)| | |4(Plod)|Hautala (1992)
1.67|9|15|96|1p36.33|SCNN1D|P|Sodium channel, voltage-gated, type I, delta polypeptide||601328|A|||| | ||
1.68|12|18|98|1p36.22|TNFRSF1B, TNFR2, TNFBR|C|Tumor necrosis factor receptor superfamily, member 1B||191191|REa, A, Fd|||| | |4(Tnfr1)|
1.69|12|14|98|1p36.32|TNFRSF14, HVEM, TR2|P|Tumor necrosis factor receptor superfamily, member 14 (herpesvirus|entry mediator)|602746|A|||| | ||
1.70|1|11|07|1p36.21|CASP9, APAF3|P|Caspase 9, apoptosis-related cysteine protease||602234|A|||| | ||
1.71|3|16|06|1p36.31|ESPN|P|Espin, mouse, homolog of||606351|R, H|||Deafness, autosomal recessive 36, 609006 (3); Deafness, neurosensory,|without vestibular involvement, autosomal dominant (3) | |4(espn)|
1.72|2|28|08|1p36.33|MRPL20|P|Mitochondrial ribosomal protein L20||611833|R|||| | ||
1.73|2|17|11|1p36.12|C1QA|C|Complement component 1, q subcomponent, A chain||120550|REa, REb|||C1q deficiency, 613652 (3)| | ||
1.74|2|17|11|1p36.12|C1QB|C|Complement component 1, q subcomponent, B chain||120570|REa, REb|||C1q deficiency, 613652 (3)| | |(C1qb)|
1.75|2|17|11|1p36.12|C1QC, C1QG|P|Complement component 1, q subcomponent, C chain||120575|REn, REb|||C1q deficiency, 613652 (3)| | ||
1.76|9|9|08|1p36.13|FBXO42, FBX42, KIAA1332|P|F-box only protein 42||609109|REc|||| | |4(Fbox42)|
1.77|9|9|08|1p36.22|FBXO6, FBX6, FBG2|C|F-box only protein 6||605647|REc|||| | |4(Fbxo6)|
1.78|1|8|07|1p36.13|HSPB7, CVHSP|P|Heat-shock 27kD protein 7||610692|REc|||| | ||
1.79|12|30|04|1p36.22|APITD1|P|Apoptosis-inducing, TAF9-like domain 1||609130|REa, REc|||| | ||
1.80|7|17|09|1p36.22|CTNNBIP1, ICAT|P|Catenin, beta-interacting protein 1||607758|R, REc|||| | ||
1.81|3|20|09|1p36.22|DRAXIN, C1orf187|P|Dorsal repulsive axon guidance protein||612682|REc|||| | ||
1.82|7|27|09|1p36.22|EXOSC10, PMSCL2|P|Exosome component 10||605960|R, REc|||| | ||
1.83|5|24|13|1p36.22|LZIC|P|Leucine zipper and CTNNBIP1 domains-containing protein||610458|REc|||| | ||
1.84|9|25|12|1p36.22|NMNAT1, NMNAT, PNAT1, LCA9|C|Nicotinamide nucleotide adenylyltransferase 1||608700|REc|||Leber congenital amaurosis 9, 608553 (3)| | ||
1.85|9|9|08|1p36.22|PTCHD2, DISP3, KIAA1337|P|Patched domain-containing protein 2||611251|REc|||| | ||
1.86|2|28|07|1p36.22|SLC25A33|P|Solute carrier family 25 (mitochondrial carrier), member 33||610816|REc|||| | |4(Slc25A33)|
1.87|12|18|07|1p36.22|SPSB, SSB1|P|SPRY domain- and SOCS box-containing 1||611657|R, REc|||| | ||
1.88|9|22|08|1p36.22|CASZ1, SRG|P|Castor zinc finger protein 1||609895|A, REc|||| | |4(Srg)|
1.89|2|11|08|1p36.21|CTRC, CLCR|P|Chymotrypsin||601405|REc|||{Pancreatitis, chronic, susceptibility to}, 167800 (3)| | ||
1.90|9|9|08|1p36.22|FBXO44, FBX44, FBX6A, FBG3|C|F-box only protein 44||609111|REc|||| | |4(Fbxo44)|
1.91|2|28|06|1p36.21|GBD2|P|Gallbladder disease 2||609918|between D1S1597 and D1S47|||Gallbladder disease 2 (2)| | ||
1.92|5|6|13|1p36.21|LRRC38|P|Leucine-rich repeat-containing protein 38||615212|REc|||| | ||
1.93|12|10|13|1p36.21|PDPN, TI1A, T1A2, GP36, OTS8, AGGRUS|P|Podoplanin||608863|REc, R|||| | ||
1.94|3|12|07|1p36.21|SLC25A34|P|Solute carrier family 25, member 34||610817|REc|||| | |4(Slc25A34)|
1.95|9|2|12|1p36.21|CELA2A, ELA2A|P|Chymotrypsin-like elastase family, member 2A||609443|REc, R|||| | ||
1.96|9|2|12|1p36.21|CELA2B, ELA2B|P|Chymotrypsin-like elastase family, member 2B||609444|REc|||| | ||
1.97|9|22|09|1p36.22|KIF1B, CMT2A, CMT2A1, NBLST1|C|Kinesin family member 1B||605995|Fd, REc, D|||Charcot-Marie-Tooth disease, type 2A1, 118210 (3); Pheochromocytoma,|171300 (3); {Neuroblastoma, susceptibility to, 1}, 256700 (3) | |4(Kif1b)|
1.98|5|2|06|1p36.22|MFN2, KIAA0214, CMT2A2|C|Mitofusin 2||608507|R, REa, REc|||Charcot-Marie-Tooth disease, type 2A2, 609260 (3); Hereditary motor|and sensory neuropathy VI, 601152 (3) | ||
1.99|11|19|13|1p36.22|MTOR, FRAP1|P|Mechanistic target of rapamycin||601231|R, A|||| | ||
1.100|7|8|09|1p36.13|NBPF1, KIAA1693|P|Neuroblastoma breakpoint family, member 1||610501|R, REc|pseudogenes on 3 and 5||| | ||
1.101|9|15|11|1p36.12|NBPF3|P|Neuroblastoma breakpoint family, member 3||612992|REc, A|||| | ||
1.102|8|1|08|1p36.22|NPPA, PND, ANP, ATFB6|C|Natriuretic peptide precursor A||108780|REa, A, H|||Atrial fibrillation, familial, 6, 612201 (3)| | |4(Pnd)|
1.103|5|9|95|1p36.22|NPPB, BNP|C|Natriuretic peptide precursor B||600295|H, REa, A, REn|||| | |4(Nppb)|
1.104|10|25|12|1p36.22|PEX14, PBD13A|P|Peroxisome biogenesis factor 14||601791|R, REc|||Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3)| | ||
1.105|12|27|13|1p36.22|PIK3CD, APDS, IMD14|P|Phosphatidylinositol 3-kinase, catalytic, 110kD, delta||602839|A, R|||Activated PI3K-delta immunodeficiency syndrome, 615513 (3)| | ||
1.106|3|12|08|1p36.2|SCZD12|P|Schizophrenia 12||608543|Fd|max lod at D1S1612||{Schizophrenia 12}, 181500 (2)| | ||
1.107|8|4|99|1p36.23|SLC2A5, GLUT5|C|Solute carrier family 2 (facilitated glucose transporter), member 5||138230|REa, A, REc, R|||| | ||
1.108|10|11|06|1p36.23|SLC2A7, GLUT7|P|Solute carrier family 2 (facilitated glucose transporter), member 7||610371|REc|||| | ||
1.109|10|5|10|1p36.22|TARDBP, TDP43, ALS10|C|TAR DNA-binding protein||605078|R, REc|pseudogenes on 2, 6, 8, 13, 20||Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3);|Frontotemporal lobar degeneration, TARDBP-related, 612069 (3) | |4(Tardbp)|
1.110|4|10|90|1p36.22|PGD|C|6-phosphogluconate dehydrogenase||172200|F, S|||| | |4(Pgd)|
1.111|3|16|10|1p36.13|PAX7, RMS2|C|Paired box homeotic gene-7||167410|Psh, H, REa, A|fused with FKHR in rhabdomyosarcoma||Rhabdomyosarcoma 2, alveolar, 268220 (3)| | |4(Pax7)|
1.112|3|24|88|1p36.11|FGR, SRC2|P|Oncogene FGR||164940|A, REb, REa, Fd|same as SRC2||| | |4(Fgr)|
1.113|9|22|97|1p36.2-p36.1|GLC3B|P|Glaucoma 3, primary infantile, B||600975|Fd|||Glaucoma 3, primary infantile, B (2)| | ||
1.114|9|7|00|1p36.23|RERE|P|RE repeats-encoding gene||605226|REc, Ch|||| | ||
1.115|12|24|08|1p36.23|SLC45A1, DNB5|P|Solute carrier family 45, member 1||605763|REc|||| | ||
1.116|10|3|11|1p36.13|ZBTB17, ZNF151, MIZ1|P|Zinc finger- and BTB domain-containing protein 17||604084|A|||| | ||
1.117|1|1|95|1p36.12|CDA|C|Cytidine deaminase||123920|A, Psh|||| | ||
1.118|2|19|08|1p35.3|EPB41, EL1|C|Erythrocyte surface protein band 4.1||130500|F, REb|||Elliptocytosis-1, 611804 (3)| | |4(Elp1)|
1.119|5|4|12|1p36.11|RHCE|C|Rhesus system C and E polypeptides||111700|F, D, Fd|?order: C-E-D||[Blood group, Rhesus], 111690 (3); Rh-null disease, amorph type|(3) | ||
1.120|5|25|05|1p36.11|RHD|C|Rhesus system D polypeptide||111680|F, D, Fd|||[Rh-negative blood type] (3)| | ||
1.121|10|18|00|1p36.11|SMP1|P|Small membrane protein 1||605348|REc|between RHD and RHCE||| | ||
1.122|5|23|12|1p36.13|AKR7A2, AKR7, AFAR|P|Aldo-keto reductase family 7, member A2||603418|REn|pseudogenes on Xq25 and 1p12||| | ||
1.123|8|8|13|1p36.13|AKR7A3, AFAR2|P|Aldo-keto reductase family 7, member A3||608477|REc, A|||| | ||
1.124|8|8|13|1p36.13|AKR7A4, AFAR3|P|Aldo-keto reductase family 7, member A4||608478|REc, A|||| | ||
1.125|12|22|08|1p36.13|ARHGEF10L, GRINCHGEF, KIAA1626|P|RHO guanine nucleotide exchange factor 10-like protein||612494|REc|||| | ||
1.126|12|22|08|1p36.13|ARHGEF19, WGEF|P|RHO guanine nucleotide exchange factor 19||612496|REc|||| | |4(Arhgef19)|
1.127|7|17|09|1p36.21|FBLP1, MIGFILIN|P|Filamin-binding LIM protein 1||607747|REc|||| | ||
1.128|2|18|08|1p36.13|NECAP2|P|NECAP endocytosis-associated protein 2||611624|R, REc|||| | ||
1.129|1|28|08|1p36.13|OTUD3, KIAA0459|P|OTU domain-containing protein 3||611758|R, REc|||| | ||
1.130|1|16|07|1p36.13|PADI1|C|Peptidylarginine deiminase, type I||607934|REc, REn|||| | ||
1.131|1|16|07|1p36.13|PADI2|C|Peptidylarginine deiminase, type II||607935|REc, REn|||| | ||
1.132|1|16|07|1p36.13|PADI3|P|Peptidylarginine deiminase, type III||606755|REc, REN|||| | ||
1.133|1|16|07|1p36.13|PADI4, PADI5, PAD|C|Peptidylarginine deiminase, type IV||605347|REc, REn|||{Rheumatoid arthritis, susceptibility to}, 180300 (3)| | ||
1.134|8|21|12|1p36.13|PQLC2|P|PQ loop repeat-containing protein 2||614760|REc|||| | ||
1.135|9|30|10|1p36.21-p36.13|SPEN, MINT, SHARP, HIAA0929|P|SPEN, Drosophila, homolog of||613484|REc|||| | ||
1.136|3|17|06|1p36.13|ZUBR1, RBAF600, KIAA1307|P|Retinoblastoma-associated factor 600||609890|R, REc|||| | ||
1.137|9|22|08|1q21.2|APH1A|P|Anterior pharynx defective 1, C. elegans, homolog of, A||607629|R, REc|||| | ||
1.138|1|11|95|1p36.12|ID3|C|Inhibitor of DNA binding 3, dominant negative, helix-loop-helix|protein|600277|RE, A|||| | ||
1.139|10|24|97|1p36.13|D1S1733E, DAN|P|Differential-screening-selected gene aberrant in neuroblastoma||600613|A|aberrant in some neuroblastomas||| | |4(D4H1S1733E)|
1.140|1|3|05|1p36.13-p34.3|ANIB3|P|Aneurysm, intracranial berry, 3||609122|Fd|||Aneurysm, intracranial berry, 3 (2)| | ||
1.141|8|23|09|1p36.12|B6QTL1|P|Vitamin B6 plasma level QTL 1||612957|Fd|associated with rs4654748||{Vitamin B6 plasma level QTL 1} (2)| | ||
1.142|1|9|13|1p36.12|CAMK2N1|P|Calcium/calmodulin-dependent protein kinase II inhibitor 1||614986|REc|||| | ||
1.143|7|17|09|1p36.12|EPHA8, EEK, HEK3|P|Ephrin receptor EphA8 (eph- and elk-related kinase)||176945|REa, REc|||| | ||
1.144|10|13|09|1p36.12|KDM1A, LSD1, AOF2, BHC110, KIAA0601|P|Lysine-specific demethylase 1A||609132|R, REc|||| | ||
1.145|7|20|12|1p36.12|KIF17, KIAA1405|P|Kinesin family member 17||605037|REc|||| | ||
1.146|4|27|09|1p36.12|MUL1, MULAN, C1orf166|P|Mitochondrial ubiquitin ligase activator of NFKB1||612037|REc|||| | ||
1.147|7|20|12|1q44|DESI2, PPPDE1|P|Desumoylating isopeptidase 2||614638|REc|||| | ||
1.148|3|1|01|1p36.12|PLA2G2D, SPLASH|C|Phospholipase A2, group IID||605630|R|||| | |4(Pla2g2d)|
1.149|5|25|13|1p36.12|TCEA3|P|Transcription elongation factor A, 3||604128|REc|||| | ||
1.150|4|5|11|1p36.12-p35.1|BFIS4, BFIC4|P|Seizures, benign familial infantile, 4||612627|Fd|between D1S2864 and D1S2830||Seizures, benign familial infantile, 4 (2)| | ||
1.151|7|20|12|1p36.11|CD52, CDW52|P|CD52 molecule||114280|REc|||| | ||
1.152|4|6|11|1p36.11|DHDDS, HDS, RP59|P|Dehydrodolichyl diphosphate synthase||608172|REc|||Retinitis pigmentosa 59, 613861 (3)| | ||
1.153|4|6|11|1p36.11|FCN3, HAKA1|P|Ficolin 3||604973|R, REc|||Immunodeficiency due to ficolin 3 deficiency, 613860 (3)| | ||
1.154|10|7|02|1p36.12|HNRPR, HNRNPR|P|Heterogeneous nuclear ribonucleoprotein R||607201|R|||| | ||
1.155|2|11|13|1p36.11|IFNLR1, IL28RA|P|Interferon, lambda receptor 1||607404|REc|||| | ||
1.156|4|27|09|1p36.11|LIN28, LIN28A|P|Lin28, C. elegans, homolog of||611043|REc, H|||| | |4(Lin28)|
1.157|2|8|12|1p36.11|MAP3K6, MAPKKK6, ASK2|P|Mitogen-activated protein kinase kinase kinase 6||604468|REc|||| | ||
1.158|12|27|13|1q25.2-q25.3|LINC-COX2|P|Long intergenic noncoding RNA COX2||615492|REn|||| | ||
1.159|8|19|13|1p36.11|NUDC|P|Nuclear distribution gene C, A. nigulans, homolog of||610325|REc, A|||| | ||
1.160|7|17|09|1p36.11|PAQR7, MPRA, PGLP|P|Progestin and ADIPOQ receptor family, member 7||607779|REc|||| | ||
1.161|8|20|12|1p36.11|PIGV, HPMRS1|P|Phosphatidylinositol glycan, class V||610274|REc|||Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)| | ||
1.162|3|11|08|1p36.11|PNRC2|P|Proline-rich nuclear receptor coactivator 2||611882|REc|||| | ||
1.163|7|19|12|1p36.11|SFN|P|Stratifin||601290|REc|||| | ||
1.164|1|17|13|1p36.11|SLC30A2, ZNT2, TNZD|P|Solute carrier family 30 (zinc transporter), member 2||609617|REc|||Zinc deficiency, transient neonatal, 608118 (3)| | |4(Slc30a2)|
1.165|12|8|03|1p36.11|SOM|P|Sister of mammalian grainyhead||608317|REc|||| | ||
1.166|7|27|09|1p36.11|SRRM1, SRM160|P|Serine/arginine repetitive matrix 1 (ser/arg-related nuclear matrix|protein, 160kD)|605975|R, REc|||| | ||
1.167|7|17|09|1p36.11|SYF2, P29|P|SYF2 RNA splicing factor, S. cerevisiae, homolog of||607090|R, REc|||| | ||
1.168|2|14|08|1p36.11|SYTL1, SLP1, JFC1|P|Synaptotagmin-like protein 1||608042|R, REc|||| | ||
1.169|5|24|13|1p36.11|TMEM57, FLJ10747|C|Transmembrane protein 57||610301|REc, H|||| | |4(Tmem57)|
1.170|4|24|01|1p36.11|WASF2, WAVE2, SCAR2|P|Wiskott-Aldrich syndrome protein family, member 2||605875|REc|?pseudogene on Xp11.21||| | ||
1.171|3|22|07|1p35.3|MECR, NRBF1|P|Mitochondrial trans-2-enoyl-CoA reductase||608205|REc|||| | ||
1.172|8|28|97|1p36.13|CAPZB, CAPPB|P|Capping protein (actin filament) muscle Z-line, beta||601572|A|||| | ||
1.173|10|20|99|1p36.12|CDC42|P|Cell division cycle 42 (GTP-binding protein, 25kD)||116952|H, R, REc|||| | |4(cdc42)|
1.174|1|1|95|1p35.3|CHC1, RCC1|C|Regulator of chromosome condensation||179710|REb, A|||| | |4(Chc1)|
1.175|3|29|12|1p36.12|DDOST, OST, OST48, CDG1R|P|Dolichyl-diphosphooligosaccharide-protein glycosyltransferase||602202|A|||Congenital disorder of glycosylation, type Ir, 614507 (3)| | ||
1.176|7|16|09|1p36.22|DHRS3, RETSDR1|P|Short-chain dehydrogenase/reductase family, member 3||612830|A, R|||| | ||
1.177|4|6|11|1p36.12|ECE1|C|Endothelin converting enzyme 1||600423|A, R, Psh|||Hirschsprung disease, cardiac defects, and autonomic dysfunction,|613870 (3); {Hypertension, essential, susceptibility to}, 145500 (3) | ||
1.178|5|6|13|1p36.13|EPHA2, ECK, ARCC2, CTPP1, CTPA, ARCC2, CTRCT6|C|Ephrin receptor EphA2||176946|A, REa, Fd|||Cataract 6, multiple types, 116600 (3)| | ||
1.179|4|11|97|1p36.11|EXTL1|P|Exostosin-like 1||601738|R, A|||| | ||
1.180|8|28|02|1p36.11|HMGN2, HMG17|C|High-mobility group nucleosomal binding protein 2||163910|REa, A|||| | ||
1.181|4|1|01|1p36.12|HSPG2, PLC, SJS, SJA, SJS1|C|Heparan sulfate proteoglycan of basement membrane (perlecan)||142461|A, REa, LD|||Schwartz-Jampel syndrome, type 1, 255800 (3); Dyssegmental dysplasia,|Silverman-Handmaker type, 224410 (3) | |4(Plc)|
1.182|2|28|03|1p36.11|MDS2|P|Myelodysplasia syndrome gene 2||607305|A|fused with ETV6 in myelodysplastic syndrome||| | ||
1.183|3|6|01|1p36.11|NR0B2, SHP|P|Nuclear receptor subfamily 0, group B, member 2||604630|REa, A|||Obesity, mild, early-onset, 601665 (3)| | ||
1.184|11|3|98|1p35.3|RNU17A, RNE1|C|RNA, U17a small nucleolar||180645|REn|in IVS1 of CHC1||| | ||
1.185|11|3|98|1p36.1|RNU17B|P|RNA, U17b small nucleolar||603239|REn|||| | ||
1.186|12|15|99|1p35.3|RNU17D, U17HG|P|RNA, U17d small nucleolar||603238|REn|||| | ||
1.187|8|30|09|1p36.11|RPS6KA1, RSK1|P|Ribosomal protein S6 kinase, 90kD, 1||601684|REa, REc|||| | ||
1.188|2|20|98|1p36.21|RSC1A1, RS1|P|Regulatory solute carrier protein, family 1, member 1||601966|A|||| | ||
1.189|12|19|11|1p36.11|SRSF10, FUSIP1, TASR, TASR1, TASR2|P|Splicine factor, serine/arginine-rich, 10||605221|REc|pseudogenes on chr. 9, 12, 20||| | ||
1.190|2|15|96|1p36.11|TCEB3|P|Transcription elongation factor B (SIII), polypeptide 3 (110kD,|elongin A)|600786|A|||| | ||
1.191|9|2|09|1q21.2|TRNAN1, TRN1, TRN|P|tRNA asparagine||189880|REa, RE|||| | ||
1.192|7|20|06|1p36.12|EPHB2, EPHT3, DRT, ERK, PCBC, CAPB|C|eph tyrosine kinase 3 (ephrin receptor EphB2)||600997|Psh, A, Fd|||Prostate cancer, progression and metastasis of, 603688 (3)| | |4(Ephb2)|
1.193|4|23|96|1p36.1-p35|MEMO1|P|Methylation modifier for class I HLA||601201|D|||| | ||
1.194|10|22|95|1p36.13|MFAP2, MAGP, MAGP1|P|Microfibrillar-associated protein-2||156790|REa, A|||| | |4(Mfap2)|
1.195|2|26|95|1p36.12|RAP1GA1|P|RAP1, GTPase activating protein 1||600278|A, REa|||| | ||
1.196|2|4|09|1p36.11|RPL11, DBA7|C|Ribosomal protein L11||604175|REa, R, A|||Diamond-Blackfan anemia 7, 612562 (3)| | ||
1.197|3|15|13|1p36.13|SDHB, SDH2, SDHIP, PGL4, CWS2|C|Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)||185470|S, REa, A|1 of 2 polypeptides||Paragangliomas 4, 115310 (3); Pheochromocytoma, 171300 (3);|Paraganglioma and gastric stromal sarcoma, 606864 (3); Cowden syndrome 2, 612359 (3); Gastrointestinal stromal tumor, 606764 (3)| ||
1.198|3|28|95|1p36.11|SLC9A1, NHE1, APNH|C|Solute carrier family 9 (sodium/hydrogen exchanger), member 1|(antiporter, Na+/H+, amiloride sensitive)|107310|A, F, Fd|3cM proximal to RH||| | |4(Apnh, Nhe1)|
1.199|7|17|01|1p36.11|STMN1, LAP18, SMN|P|Stathmin||151442|REa, A|||| | |4(Lap18)|
1.200|1|1|95|1p36.11|GPR3|C|G protein-coupled receptor-3||600241|A|||| | ||
1.201|3|17|94|1p35.3|OPRD1|P|Opioid receptor, delta-1||165195|H, A|||| | |4(Nbor, Oprd1)|
1.202|8|12|09|1p36.12|ALPL, HOPS, TNSALP|C|Alkaline phosphatase, liver/bone/kidney||171760|S, H, Fd, F, A|||Hypophosphatasia, infantile, 241500 (3); Hypophosphatasia, childhood,|241510 (3); Odontohypophosphatasia, 146300 (3); Hypophosphatasia, adult, 146300 (3)| |4(Akp2)|
1.203|3|17|06|1p36.31|ACOT7, BACH, LACH|P|Acyl-CoA thioesterase 7||602587|REc|||| | ||
1.204|2|15|06|1p36|AD7CNTP|P|Alzheimer disease neuronal thread protein||607413|R, REc|||| | ||
1.205|1|25|99|1p36.13|ALDH4A1, ALDH4, P5CDH|P|Aldehyde dehydrogenase 4 family, member A1|(delta-1-pyrroline 5-carboxylate dehydrogenase)|606811|A|||Hyperprolinemia, type II, 239510 (3)| | ||
1.206|11|7|08|1p36|ALPQTL2|P|Alkaline phosphatase, plasma level of, QTL 2||612367|Fd|linkage with rs1780324||{Alkaline phosphatase, plasma level of, QTL 2} (2)| | ||
1.207|11|1|13|1p36.13|ATP13A2, PARK9, KRPPD, CLN12|C|ATPase, type 13A2||610513|REc, Fd|mutation identified in 1 family with CLN12||Kufor-Rakeb syndrome, 606693 (3); ?Ceroid lipofuscinosis, neuronal,|12, 606693 (3) | |4(Atp13a2)|
1.208|10|6|09|1p36|BCC1|P|Basal cell carcinoma, susceptibility to, 1||605462|Fd|associated with rs7538876||{Basal cell carcinoma, susceptibility to, 1} (2)| | ||
1.209|5|14|02|1p36|BMND3|C|Bone mineral density QTL 3||606928|Fd|?another locus at 3p21||[Bone mineral density QTL 3] (2)| | ||
1.210|8|31|12|1p36.31-p36.23|CAMTA1, KIAA0833, CANPMR|P|Calmodulin-binding transcription activator 1||611501|REc|||Cerebellar ataxia, nonprogressive, with mental retardation, 614756|(3) | ||
1.211|2|20|07|1p36.31|CHD5|C|Chromodomain helicase DNA-binding protein 5||610771|REc, H|||| | |4(Chd5)|
1.212|6|19|98|1p36.22|CLCN6|P|Chloride channel 6||602726|REa, A|||| | ||
1.213|11|3|09|1p36.13|CLCNKA|C|Chloride channel, kidney, A||602024|Fd, REc|11kb from CLCNKB; simultaneous mutation in CLCNKA and CLCNKB||Bartter syndrome, type 4b, digenic, 613090 (3)| | ||
1.214|8|24|04|1p36.13|CLCNKB|C|Chloride channel, kidney, B||602023|Fd, REc|unequal crossingover with CLCNKA||Bartter syndrome, type 3, 607364 (3); Bartter syndrome, type 4b,|digenic, 613090 (3) | ||
1.215|1|4|93|1p36|CMM, MLM, DNS|P|Cutaneous malignant melanoma/dysplastic nevus||155600|F, Fd, D|some linkage studies negative; see 9p||{Melanoma, cutaneous malignant, 1} (2)| | ||Greene (1983); Goldstein (1992)
1.216|12|30|09|1p36.11|CNR2, CB2, CX5|P|Cannabinoid receptor 2||605051|R, REc|||| | ||
1.217|8|15|96|1p36.33|DVL1|C|Dishevelled 1 (homologous to Drosophila dsh)||601365|Psh, A|||| | ||
1.218|2|01|01|1p36.22|CORT|C|Cortistatin||602784|H, R, REc|||| | |4(Cort)|
1.219|1|20|09|1p36|DEL1p36, C1DELp36|P|Chromosome 1p36 deletion syndrome||607872|Ch|contiguous gene deletion syndrome||Chromosome 1p36 deletion syndrome (4)| | ||
1.220|3|13|06|1p36.23|DJ1, PARK7|P|Oncogene DJ-1||602533|Fd, R|||Parkinson disease 7, autosomal recessive early-onset, 606324 (3)| | ||
1.221|2|23|95|1p36.12|E2F2|P|E2F transcription factor 2||600426|A|||| | ||
1.222|4|18|97|1p35.3|EYA3|P|Eyes absent, Drosophila, homolog of, 3||601655|A, H|||| | |4(Eya3)|
1.223|9|9|08|1p36.22|FBXO2, FBX2, FBG1, NFB42|C|F-box only protein 2||607112|REc|||| | |4(Fbxo2)|
1.224|5|29|12|1p36.22|H6PD, GDH, G6PDH, CORTRD1|C|Hexose-6-phosphate dehydrogenase||138090|S, F|digenic triallelic mutations with HSD11B1||Cortisone reductase deficiency 1, 604931 (3)| | ||
1.225|6|9|09|1p36|IBD7|P|Inflammatory bowel disease 7||605225|Fd|associated with rs6426833||{Inflammatory bowel disease 7} (2)| | ||
1.226|4|17|01|1p36.31|ICMT|P|Isoprenylcysteine carboxylmethyltransferase||605851|R|||| | ||
1.227|4|2|01|1p36.12|LUZP1|P|Leucine zipper protein 1||601422|H, R|||| | |4(Luzp)|
1.228|3|9|00|1p36.22|MAD2L2, MAD2B|P|Mitotic arrest-deficient 2, S. cerevisiae, homolog-like 2||604094|R|pseudogene on 14q21-q23||| | ||
1.229|9|16|03|1p36.23|MIG6, RALT|P|Mitogen-inducible gene 6||608069|R, REc|||| | ||
1.230|3|23|09|1p36.22|MIR34A, MIRN34A|P|Micro RNA 34A||611172|REc|||| | ||
1.231|2|23|09|1p36|MS4|P|Multiple sclerosis, susceptibility to, 4||612596|Fd|associated with rs10492972||{Multiple sclerosis, susceptibility to, 4} (2)| | ||
1.232|7|22|11|1p36|MYP14|P|Myopia 14||610320|Fd|between D1S552 and D1S1622||Myopia 14 (2)| | ||
1.233|12|30|02|1p36.31|NPHP4, SLSN4|P|Nephrocystin 4||607215|Fd, REc|||Nephronophthisis 4, 606966 (3); Senior-Loken syndrome 4, 606996 (3)| | ||
1.234|7|9|06|1p36.32|PANK4|P|Pantothenate kinase 4||606162|REn|||| | ||
1.235|6|1|04|1p36.12|PINK1, PARK6|C|PTEN-induced putative kinase 1||608309|R, REc, Fd|||Parkinson disease 6, early onset, 605909 (3)| | ||
1.236|9|9|13|1p36.31|PLEKHG5, KIAA0720, DSMA4, CMTRIC|C|Pleckstrin homology domain-containing protein, family G, member 5||611101|REc, Fd, R, Fd|||Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3);|Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3) | ||
1.237|9|28|96|1p36.21|PRDM2, RIZ|P|PR domain-containing protein 2 (retinoblastoma protein-binding|zinc-finger protein RIZ)|601196|REc, A|||| | |4(Riz)|
1.238|7|09|06|1p36.33|PRKCZ, PKC2|P|Protein kinase C, zeta form||176982|REc|||| | ||
1.239|11|29|99|1p36.11|RUNX3, CBFA3, PEBP2A3, AML2|C|Runt-related transcription factor 3||600210|A, REa|||| | |4(Aml2, Cbfa3)|
1.240|7|31|06|1p36|SCAR4, SCASI|P|Spinocerebellar ataxia, autosomal recessive 4||607317|Fd|||Spinocerebellar ataxia, autosomal recessive 4 (2)| | ||
1.241|6|4|13|1p36.32|SMIM1, VEL|P|Small integral membrane protein 1||615242|REc|||[Blood group, Vel system], 615264 (3)| | ||
1.242|2|12|03|1p36.31|TAS1R1, T1R1|C|Taste receptor type 1, member 1||606225|R, REc|||| | |4(T1r1)|
1.243|2|12|03|1p36.13|TAS1R2, T1R2|C|Taste receptor type 1, member 2||606226|R, REc|||| | |4(T1r2)|
1.244|12|18|98|1p36.33|TNFRSF4, TXGP1L, OX40, ACT35|P|Tumor necrosis factor receptor superfamily, member 4||600315|A|||| | |4(Ox40)|
1.245|12|18|98|1p36.22|TNFRSF8, CD30, D1S166E|P|Tumor necrosis factor receptor superfamily, member 8|(CD30 antigen; Ki-1 antigen)|153243|A|||| | |4(Cd30)|
1.246|12|18|98|1p36.23|TNFRSF9, ILA, CD137|P|Tumor necrosis factor receptor superfamily, member 9|(interleukin-activated receptor; Ly63, mouse, homolog of)|602250|REa|||| | |(Cd157)|
1.247|10|15|97|1p36.32|TP73|P|p53-related protein||601990|D|imprinted||?Neuroblastoma (1)| | ||
1.248|9|2|09|1p36.13|TRNAE1, TRNE, TRE|P|tRNA glutamic acid||180640|A|||| | ||
1.249|7|9|06|1p36.23|VAMP3|P|Vesicle-associated membrane protein 3||603657|REc|||| | ||
1.250|6|27|08|1p36.12|ZBTB40, KIAA0478|P|Zinc finger- and BTB domain-containing protein 40||612106|REc|||| | ||
1.251|1|2|08|1p36.12|ZNF436, KIAA1710|P|Zinc finger protein 436||611703|REc|||| | ||
1.252|5|29|02|1p36.11|GALE|C|UDP galactose-4-epimerase||606953|S, LD|||Galactose epimerase deficiency, 230350 (3)| | ||
1.253|3|12|96|1p36.13|HTR6|P|5-hydroxytryptamine (serotonin) receptor-6||601109|REa|||| | ||
1.254|11|1|06|1p36.11|LDLRAP1, ARH, FHCB2, FHCB1|C|Low density lipoprotein receptor adaptor protein 1||605747|Fd|||Hypercholesterolemia, familial, autosomal recessive, 603813 (3)| | ||
1.255|6|14|11|1p36.13|PADI6|P|Peptidylarginine deiminase, type VI||610363|REn|||| | ||
1.256|11|15|11|1p36.11|SEPN1, SELN, RSMD1, CFTD|C|Selenoprotein N||606210|REc, Fd|||Muscular dystrophy, rigid spine, 1, 602771 (3); Myopathy, congenital,|with fiber-type disproportion, 255310 (3) | ||
1.257|11|1|04|1p36-p34|DYX8|P|Dyslexia, susceptibility to, 8||608995|Fd|between D1S552 and D1S1622||{Dyslexia, susceptibility to, 8} (2)| | ||
1.258|1|30|12|1p36.13-p36.12|PLA2G5, FRFB|P|Phospholipase A2, group V||601192|A|||Fleck retina, familial benign, 228980 (3)| | |4(Pla2g5)|
1.259|5|4|00|1p34.3|PABPC4, PABP4, IPABP, APP1|P|Polyadenylate-binding protein, cytoplasmic, 4||603407|Psh, R|||| | ||
1.260|12|3|91|1p36.22|SRM, SPS1|C|Spermidine synthase-1||182891|REa, A, Psh|?pseudogene on 3p14-q21||| | ||
1.261|5|4|12|1p36.11|ARID1A, C1orf4, B120, SMARCF1, MRD14|P|AT rich interactive domain 1A, SWI-like||603024|A|||Mental retardation, autosomal dominant 14, 614607 (3)| | ||
1.262|1|15|13|1p35.3|ATP1F1, IF1|P|ATPase inhibitory factor 1||614981|REc|||| | ||
1.263|3|28|11|1p36.11|CATSPER4|P|Cation channel, sperm-associated, 4||609121|REc|||| | |4(Catsper4)|
1.264|1|27|04|1p35.1-p34.3|CSMD2, KIAA1884|P|Cub and Sushi multiple domains 2||608398|REc|||| | ||
1.265|7|17|09|1p35.3|GMEB1|P|Glucocorticoid modulatory element-binding protein 1||604409|R, REc|||| | ||
1.266|11|7|08|1p35.3|MED18|P|Mediator complex subunit 18||612384|REc|||| | ||
1.267|2|21|07|1p36.11|PDIK1L|P|PDLIM1-interacting kianse 1-like||610785|REc|||| | ||
1.268|7|16|12|1p35.3|PHACTR4|P|Phosphatase and actin regulator 4||608726|R, REc|||| | ||
1.269|2|1|11|1p35.3|PTPRU, GLEPP1, PTPU2|C|Protein tyrosine phosphatase, receptor type, U||602454|REc|||| | ||
1.270|5|13|03|1p35.3|SEST2, HI95|P|Sestrin 2||607767|A|||| | |9(Sest2)|
1.271|12|19|11|1p35.3|SRSF4, SFRS4, SRp75|P|Splicing factor, serine/arginine-rich, 4||601940|R, REc|||| | ||
1.272|9|22|08|1p35.3|TAF12|P|TAF12 RNA polymerase II, TATA box-binding protein-associated factor,|20kD|600773|R, REc|||| | ||
1.273|8|20|07|1p34.3|C1orf149, EAF6|P|Eaf6, S. cerevisiae, homolog of||611001|R, REc|||| | ||
1.274|11|30|06|1p34.3|ADPRHL2, ARH3|P|ADP-ribosylhydrolase-like 2||610624|REc|||| | ||
1.275|4|26|11|1p34.1|TOE1|P|Target of EGR1||613931|REc|||| | ||
1.276|1|9|13|1p34.3|ZC3H12A, MCPIP, MCPIP1|P|Zinc finger CCCH domain-containing protein 12A||610562|REc|||| | ||
1.277|8|8|13|1p35.2|HCRTR1, OX1R|P|Hypocretin receptor 1||602392|REc, R|||| | ||
1.278|7|16|09|1p35.2|NKAIN1|P|Na+/K+ transporting ATPase-interacting 1||612871|REc|||| | |4(Nkain1)|
1.279|9|22|08|1p35.2|PUM1, KIAA0099|P|Pumilio, Drosophila, homolog of, 1||607204|REa, REc|||| | ||
1.280|4|2|12|1p35.2|SERINC2|P|Serine incorporator 2||614549|REc|||| | ||
1.281|7|27|09|1p35.2|SNRNP40, SPF38, PRPF8BP|P|Small nuclear ribonucleoprotein 40kDa (U5)||607797|R, REc|||| | ||
1.282|9|24|08|1p36.11|RCAN3, DSCR1L2, MCIP3|P|Regulator of calcineurin 3||605860|REc|||| | |4(Dscr1l2)|
1.283|11|23|11|1p35.1|CCDC28B, MGC1203|P|Coiled-coil comain-containing protein 28B||610162|REc|||{Bardet-Biedl syndrome, modifier of}, 209900 (3)| | ||
1.284|8|29|02|1p34.3|DNALI1, P28|P|Dynein, axonemal, light intermediate polypeptide 1||602135|REa, R|||| | ||
1.285|3|20|08|1p35.1|FNDC5, FRCP2|P|Fibronecting type III domain-containing protein 5||611906|R, REc, H|||| | |4(Fndc5)|
1.286|2|18|96|1p34.3|GJA4, CX37|C|Gap junction protein, alpha-4, 37kD (connexin 37)||121012|REa, A, REc|||| | |(Gja4)|
1.287|10|7|10|1p34.3|GJB3, CX31, DFNA2B|C|Gap junction protein, beta-3||603324|REn, REc, Psh, A|same YAC as GJA4||Erythrokeratodermia variabilis et progressiva, 133200 (3); Deafness,|autosomal dominant 2B, 612644 (3); Deafness, autosomal recessive (3); Deafness, autosomal dominant, with peripheral neuropathy (3); Deafness, digenic,|GJB2/GJB3, 220290 (3) ||
1.288|11|29|00|1p34.3|GJB4, CX30.3|P|Gap junction protein, beta-4||605425|REn, Fd|||Erythrokeratodermia variabilis with erythema gyratum repens,|133200 (3) | ||
1.289|11|29|00|1p34.3|GJB5, CX31.1|P|Gap junction protein, beta-5||604493|R, REc|||| | ||
1.290|3|26|07|1p35.1|IBRDC3, NKLAM|P|IBR domain-containing protein 3||610872|R, REc|||| | ||
1.291|5|26|13|1p35.1|KPNA6|P|Karyopherin alpha-6||610563|R, REc|||| | ||
1.292|6|10|98|1p35.2|BAI2|P|Brain-specific angiongenesis inhibitor-2||602683|A|||| | ||
1.293|8|21|91|1p35|EBVS1|P|Epstein-Barr virus integration site||132850|A|||| | ||
1.294|3|21|93|1p36.11|G1P3, IFI616|C|Interferon, alpha-inducible protein (clone IFI-6-16)||147572|A, T|||| | ||
1.295|5|26|98|1p35.2|MATN1, CRTM, CMP|C|Matrilin 1, cartilage matrix protein||115437|REa, A, Fd|||| | ||
1.296|3|19|10|1p36.13|PLA2G2A, PLA2B, PLA2L, MOM1|C|Phospholipase A2, group IIA, platelets, synovial fluid||172411|REa, Fd|||{Colorectal cancer}, 114500 (3)| | |4(Pla2g2a)|
1.297|7|27|09|1p35.3|PPP1R8, NIPP1, ARD1|P|Protein phosphatase-1, regulatory subunit-8||602636|REa, REc|||| | ||
1.298|3|1|01|1p35.2-p35.1|PTP4A2, PTP4A, PRL2, HH13|P|Protein tyrosine phosphatase, type 4A, 2||601584|REc|||| | ||
1.299|4|7|94|1p35.3|RPA2|P|Replication protein A2, 32kD||179836|Psh, A|||| | ||
1.300|12|2|08|1p36.12|WNT4, SERKAL|P|Wingless-type MMTV integration site family, member 4||603490|A, R|||SERKAL syndrome, 611812 (3); Mullerian aplasia and hyperandrogenism,|158330 (3) | |4(Wnt4)|
1.301|2|10|06|1p35.1|YARS, CMTDIC, TYRRS, YTS, YRS|C|Tyrosyl-tRNA synthetase||603623|Fd, REc|||Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)| | ||
1.302|7|23|09|1p35.3|YTHDF2|P|YTH domain family member 2||610640|Ch, Rec|fused with AML1 in t(1;21)||| | ||
1.303|9|28|09|1p34.3|CSF3R, GCSFR|C|Colony-stimulating factor-3 receptor (granulocyte)||138971|A, REb, Psh, REa|||Neutrophilia, hereditary, 162830 (3)| | ||
1.304|8|20|98|1p35.1|LCK|C|Lymphocyte-specific protein tyrosine kinase||153390|A, H, Ch|LCK/TCRB fusion in leukemia||SCID due to LCK deficiency (1)| | |4(Lck)|
1.305|9|29|96|1p35.3|PTAFR|C|Platelet-activating factor receptor||173393|REa, A|||| | ||
1.306|7|17|09|1p35.1|HPCA|P|Hippocalcin, 23kD, Ca2+-binding protein||142622|REa, REc|||| | ||
1.307|4|23|08|1p34.3|MRPS15|P|Mitochondrial ribosomal protein S15||611979|R, REc|||| | ||
1.308|7|1|02|1p34.2|CITED4|P|CBP/P300-interacting transactivator, with glu/asp-rich carboxy|terminal domain, 4|606815|A|||| | ||
1.309|8|31|01|1p34.3|EIF2C1, GERP95, EIF2C|P|Eukaryotic translation initiation factor 2C, subunit 1||606228|A|||| | ||
1.310|6|27|08|1p34.3|EIF2C3, AGO3|C|Eukaryotic translation initiation factor 2C, subunit 3 (argonaute 3)||607355|R, REc, H|||| | |4(Ago3)|
1.311|7|23|03|1p34.3|EIF2C4, AGO4, KIAA1567|P|Eukaryotic translation initiation factor 2C, 4 (argonaute 4)||607356|R, REc, H|||| | |4(Eif2c4)|
1.312|8|18|98|1p34.2|GUCA2A, GUCA2|P|Guanylate cyclase activator 2A (guanylin 2, intestinal, heat-stable)||139392|A|||| | |4(Guca2)|
1.313|1|22|07|1p35.1|TSSK3, STK22C, STK22D|C|Testis-specific serine/threonine kinase 3||607660|A|||| | |4(Stk22d)|
1.314|1|30|12|1p34.2|EBNA1BP2, EBP2|P|EBNA1-binding protein 2||614443|REc|||| | ||
1.315|10|25|12|1p34.2|SLC2A1, GLUT1, DYT18, PED, GLUT1DS, EIG12, DYT9|C|Solute carrier family 2 (facilitated glucose transporter), member 1||138140|REa, A, Fd|probably in 1p33||GLUT1 deficiency syndrome 1, 606777 (3); GLUT1 deficiency syndrome|2, 612126 (3); {Epilepsy, idiopathic generalized, suscpetibility to, 12}, 614847 (3); Dystonia 9, 601042 (3)| ||
1.316|4|17|13|1p34.3|AKIRIN1|P|Akirin 1||615164|REc|||| | ||
1.317|9|10|12|1p34.3|C1orf109|P|Chromosome 1 openreading frame 109||614799|REc|||| | ||
1.318|3|24|06|1p34.3|CDCA8|P|Cell division cycle-associated protein 8||609977|REc|possible pseudogene on chr.7||| | ||
1.319|9|10|07|1p34.3|EPHA10|P|Ephrin receptor EphA10||611123|REc|||| | ||
1.320|2|28|06|1p34.3|GBD3|P|Gallbladder disease 3||609919|Fd|new D2S255||Gallbladder disease 3 (2)| | ||
1.321|4|1|08|1p34.3|GJA9, CX59|P|Gap junction protein, alpha-9||611923|REc|||| | ||
1.322|5|16|05|1p34.3|GNL2, NGP1|P|Guanine nucleotide-binding protein-like 2||609365|R, REc|||| | ||
1.323|6|13|12|1p34.3-p34.2|HEYL|P|Hariy/enhancer of split-related with YRPW motif-like protein||609034|R, A|||| | ||
1.324|7|7|13|1p34.3|KIAA0319L, KIAA1837|P|KIAA0319-like||613535|R, REc|||| | ||
1.325|9|29|96|1p34.2|MYCL1, LMYC|C|Oncogene MYC, lung carcinoma-derived||164850|REa, A, F, REn|||| | |4(Lmyc1)|
1.326|2|16|04|1p34.3|NCDN, KIAA0607|P|Neurochondrin||608458|R, REc|||| | ||
1.327|1|15|09|1p34.3|RSPO1, FLJ40906|P|Roof plate-specific spondin, mouse, homolog of, 1||609595|REc|||Palmoplantar hyperkeratosis with squamous cell carcinoma of skin|and sex reversal, 610644 (3); Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3)| ||
1.328|3|11|08|1p35.1|S100PBP, S100PBPR|P|S100P-binding protein||611889|REc|||| | ||
1.329|6|30|05|1p34.3|STK40, SHIK|P|Serine/threonine protein kinase 40||609437|R, REc|||| | ||
1.330|1|18|12|1p34.3|TFAP2E|P|Trasncription factor AP2-epsilon||614428|REc|||| | ||
1.331|5|21|07|1p34.3|TRAPPC3, BET3|P|Trafficking protein particle complex, subunit 3||610955|R, REc|||| | ||
1.332|6|30|05|1p34.3|UTP11L, CGI94|P|UTP11-like protein||609440|R, REc|||| | ||
1.333|1|29|01|1p34.3|CLASPIN|P|Claspin, Xenopus, homolog of||605434|REc|||| | ||
1.334|1|23|08|1p35.1|SYNC1|P|Syncoilin 1||611750|REc|||| | ||
1.335|5|25|13|1p35.1|AZIN2, ODC1L, KIAA1945|P|Antizyme inhibitor 2||608353|REc|||| | ||
1.336|5|26|13|1p34.2|NT5C1A, CN1A, CNI, CN1|P|5'-nucleotidase, cytosolic, IA||610525|REc|||| | ||
1.337|2|25|10|1p34.3|COL8A2, FECD1, PPCD2|C|Collagen VIII, alpha-2 polypeptide||120252|A|||Corneal dystrophy, Fuchs endothelial, 1, 136800 (3); Corneal|dystrophy polymorphous posterior, 2, 609140 (3) | ||
1.338|7|23|13|1p34.3-p32.2|CTRCT34, CATC3|P|Cataract 34, multiple types||612968|Fd|between D1S2729 and D1S2890||Cataract 34, multiple types (2)| | ||
1.339|7|6|05|1p34.1|MUTYH, MYH|P|MutY, E. coli, homolog of||604933|A|||Adenomas, multiple colorectal, 608456 (3); Gastric cancer, somatic,|613659 (3); Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)| ||
1.340|11|12|12|1p34.2|BMP8B, OP2|P|Bone morphogenetic protein-8b (osteogenic protein 2)||602284|H, REc|||| | |4(Bmp8)|
1.341|11|30|06|1p34.2|CLDN19, HOMG5|C|Claudin 19||610036|REc, Fd|||Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)| | |4(Cldn19)|
1.342|2|20|08|1p34.2|ELOVL1, SSC1|P|Elongation of very long chain fatty acids-like 1||611813|REc|||| | ||
1.343|12|19|11|1p34.2|MFSD2A|P|Major facilitator superfamily domain-containing protein 2A||614397|REc|||| | ||
1.344|4|8|13|1p34.2|MIR30C1|P|Micro RNA 30C-1||615151|REc|||| | ||
1.345|8|19|04|1p34.3|NOR1|P|Oxidored-nitro domain-containing protein 1||608854|REc|||| | ||
1.346|5|24|13|1p34.2|OXCT2, FLJ0030|P|3-oxoacid CoA transferase 2||610289|REc|||| | ||
1.347|7|27|09|1p34.1|PIK3R3|P|Phosphatidylinositol 3-kinase, regulatory, 3||606076|R, REc|||| | ||
1.348|8|8|13|1p34.2|PPIE, CYP33|P|Peptidyl-prolyl isomerase E||602435|REc, Psh, REa|||| | ||
1.349|2|20|98|1p34.3|PSMB2|P|Proteasome subunit, beta type, 2||602175|A|||| | ||
1.350|11|1|13|1p34.2|SZT2, KIAA0467, EIEE18|P|Seizure threshold 2, mouse, homolog of||615463|REc|||Epileptic encephalopathy, early infantile, 18, 615476 (3)| | ||
1.351|12|11|12|1p34.2|WDR65|C|WD repeat-containing protein 65||614259|REc, H, Fd|||| | |1(Wdr65)|
1.352|9|24|08|1p34.3|YRDC, IRIP|P|YRDC domain-containing protein||612276|REc|||| | |4(Yrdc)|
1.353|5|21|02|1p34.2|CDC20|C|Cell division cycle 20, S. cerevisiae, homolog of||603618|R|pseudogene on 9q13-q21||| | ||
1.354|6|15|99|1p34.3|NDUFS5|C|NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kD||603847|REa, R|||| | ||
1.355|5|7|03|1p32.3|OSBPL9, ORP9|C|Oxysterol-binding protein-like protein 9||606737|REc|||| | ||
1.356|10|2|91|1p34.2|CTPS|C|Cytidine 5'-triphosphate synthetase||123860|REa, A|||| | ||
1.357|5|31|05|1p34.1|EIF2B3|P|Eukaryotic translation initiation factor 2B, subunit 3||606273|R, REc|||Leukoencephalopathy with vanishing white matter, 603896 (3)| | ||
1.358|10|3|07|1p35.1|EIF3I, EIF3S2, TRIP1|P|Eukaryotic translation initiation factor 3, subunit I||603911|A|pseudogene on 7q32||| | ||
1.359|9|9|08|1p34.2|FOXO6|P|Forkhead box O6||611457|REc|||| | |4(Foxo6)|
1.360|2|24|97|1p35.1|HDAC1, RPD3L1|P|Histone deacetylase-1||601241|A|||| | ||
1.361|9|7|12|1p34.1|IPO13, IMP13, KIAA0724, RANBP13|P|Importin 13||610411|R, REc|||| | ||
1.362|5|29|12|1p34.1|KDM4A, JMJD2A, JHDM3A, KIAA0677|C|Lysine-specific demethylase 4A||609764|R, REc|||| | ||
1.363|8|24|04|1p34.1|KIF2C, KNSL6, MCAK|P|Kinesin family, member 2C||604538|R, REc|||| | ||
1.364|9|24|08|1p34.1|MAST2, MAST205, KIAA0807|P|Microtubule-associated serine/threonine kinase 2||612257|R, REc|||| | ||
1.365|1|20|06|1p34.1|MMACHC|C|MMACHC gene||609831|REn, Fd|||Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)| | ||
1.366|9|16|12|1p34.1|NASP|P|Nuclear autoantigenic sperm protein||603185|REc|||| | ||
1.367|3|17|94|1p34.1|PAGA|P|Proliferation-associated gene A||176763|A|pseudogene PAGB on 9p22||| | ||
1.368|2|1|11|1p34.1|PLK3, CNK, PRK|P|Polo-like kinase 3||602913|REc|previously assigned to 8p21 by FISH||| | ||
1.369|4|13|98|1p34.3|POU3F1|P|POU domain, class 3, transcription factor-1||602479|A|||| | |4(Pou3f1)|
1.370|5|17|04|1p34.2|PPIH|P|Peptidyl-prolyl isomerase H||606095|R|||| | ||
1.371|2|23|08|1p34.2|RIMS3, NIM3, KIAA0137|C|Protein regulating synaptic membrane exocytosis 3||611600|R, REc|||| | ||
1.372|1|9|13|1p34.1|ST3GAL3, SIAT6, ST3GALII, MRT12, EIEE15|P|ST3 beta-galactoside alpha-2,3-sialyltransferase 3||606494|R, REc|||Mental retardation, autosomal recessive 12, 611090 (3); Epileptic|encephalopathy, early infantile, 15, 615006 (3) | ||
1.373|1|4|08|1p34.1|TCTEX1D4|P|TCTEX1 domain-containing 4||611713|REc|||| | ||
1.374|12|21|09|1p34.1|TSPAN1, NET1|P|Tetraspanin 1||613170|REn|||| | ||
1.375|3|31|11|1p34.1|UQCRH|P|Ubiguinol-cytochrome c reductase hinge protein||613844|REc|pseudogene on 1p36||| | ||
1.376|10|4|05|1p34.1|ZNF393|P|Zinc finger protein-393||609602|REc, H|||| | |4(Znf393)|
1.377|8|4|97|1p34.1-p32|PTOS1|P|Ptosis, congenital 1, autosomal dominant||178300|A|||Ptosis, hereditary congenital, 1 (2)| | ||
1.378|2|1|95|1p34.1|RPS8|C|Ribosomal protein S8||600357|REa, Psh, A|||| | ||
1.379|8|24|09|1p35.1|AK2|C|Adenylate kinase-2, mitochondrial||103020|S, F, R|||Reticular dysgenesis, 267500 (3)| | |4(Ak2)|
1.380|3|21|93|1p35.2|COL16A1|C|Collagen XVI, alpha-1 polypeptide||120326|A, REa|||| | ||
1.381|8|21|07|1p34.1|DPH2, DPH2L2|P|DPH2, S. cerevisiae, homolog of||603456|A|||| | ||
1.382|6|6|91|1p34.2|EDN2|C|Endothelin-2||131241|REa, A|vasoactive intestinal contractor (VIC) = mouse and rat equivalent||| | ||
1.383|5|29|98|1p33|ELAVL4, HUD, PNEM|C|Embryonic lethal, abnormal vision, Drosophila, homolog of, like-4|(Hu antigen D)|168360|A, H|||Neuropathy, paraneoplastic sensory (1)| | |4(Hud)|
1.384|12|28|05|1p34.2|ERMAP, SC, RD|C|Erythroblast membrane-associated protein||609017|REc, H, F|||[Blood group, Scianna system], 111750 (3); [Blood group, Radin],|111620 (3) | |4(Ermap)|
1.385|6|22|99|1p34.3|FHL3, SLIM2|P|Four-and-a-half LIM domains-3||602790|R|||| | ||
1.386|9|18|08|1p36.11|FUCA1|C|Fucosidase, alpha-L- 1, tissue||612280|S, F, R, A, REa|8cM distal to RH; pseudogene on 2q31-q32||Fucosidosis, 230000 (3)| | |4(Fuca)|
1.387|2|4|02|1p34.2|HIVEP3, KRC|P|Human immunodeficiency virus type 1 enhancer-binding protein 3||606649|REc|||| | ||
1.388|10|9|94|1p34.3|INPP5B|P|Inositol polyphosphate-5-phosphatase, 75kD||147264|REa, A|||| | |4(Inpp5b)|
1.389|3|6|09|1p34.2|KCNQ4, DFNA2A|P|Potassium voltage-gated channel, KQT-like subfamily, member 4||603537|A|||Deafness, autosomal dominant 2A, 600101 (3)| | ||
1.390|11|13|96|1p35.2|LAPTM5|P|Lysosomal-associated multispanning membrane protein-5||601476|A|||| | ||
1.391|4|18|07|1p34.2|LEPRE1, P3H1, GROS1, OI8|C|Leucine- and proline-enriched proteoglycan 1||610339|Psh, R, REc|||Osteogenesis imperfecta, type VIII, 610915 (3)| | ||
1.392|10|09|07|1p32.3|LRP8, APOER2, MCI1|C|Low density lipoprotein receptor-related protein 8 (Apolipoportein E|receptor 2)|602600|REa, A, Fd|||{Myocardial infarction, susceptibility to}, 608446 (3)| | ||
1.393|6|7|10|1p35.1|MARCKSL1, MLP, MRP|C|MARCKS-like protein 1||602940|H, Psh, A|||| | |4(Mlp)|
1.394|3|9|12|1p34.2|MPL, TPOR, MPLV, THCYT2|C|Myeloproliferative leukemia virus, homolog of||159530|A|||Thrombocytopenia, congenital amegakaryocytic, 604498 (3);|Thrombocythemia 2, 601977 (3); Myelofibrosis with myeloid metaplasia, somatic, 254450 (3)| ||
1.395|5|19|06|1p35.2|PEF1|P|Peflin||610033|REc|||| | ||
1.396|3|6|08|1p34.3|RRAGC, RAGC|P|RAS-related GTP-binding protein C||608267|R, REc|||| | ||
1.397|8|31|01|1p34.3|SFPQ, PSF|P|Splicing factor, proline- and glutamine-rich||605199|Ch|fusion gene with TFE3 in RCC||| | ||
1.398|11|19|10|1p34.1|UROD|C|Uroporphyrinogen decarboxylase||613521|S, A, REa|||Porphyria cutanea tarda, 176100 (3); Porphyria, hepatoerythropoietic,|176100 (3) | |4(Urod)|
1.399|12|11|12|1p34|VWS2|P|van der Woude syndrome 2||606713|max lod at D1S2797|||van der Woude syndrome 2 (2)| | ||
1.400|2|23|12|1p34.2|YBX1, NSEP1, YB1, DBPB|P|Y box binding protein 1|(major histocompatibility complex, class II, Y box-binding protein I)|154030|A|||| | ||
1.401|6|23|05|1p34.2|ZMPSTE24, FACE1, STE24, MADB|C|Zinc metalloproteinase STE24||606480|A, R|||Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3);|Restrictive dermopathy, lethal, 275210 (3) | ||
1.402|10|9|94|1p34.3|GRIK3, GLUR7|P|Glutamate receptor, ionotropic, kainate 3||138243|REa, A|||| | ||
1.403|5|29|98|1p34.2|GUCA2B, UGN|P|Guanylate cyclase activator 2B (uroguanylin)||601271|A|||| | |4(Guca1b)|
1.404|7|2|98|1p32.3|MAGOH|P|Mago nashi, Drosophila, homolog of, proliferation-associated||602603|R|||| | |4(Magoh)|
1.405|4|4|02|1p34.1|POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3|C|Protein 0-mannose beta-1,2-N-acetylglucosaminyltransferase||606822|Fd, LD|||Muscular dystrophy-dystroglycanopathy (congenital with brain and eye|anomalies), type A, 3, 253280 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3); Muscular|dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3) ||
1.406|1|1|95|1p34.2|TIE, JTK14, TIE1|P|Tyrosine kinase with immunoglobulin and epidermal growth factor|homology domains|600222|A|||| | ||
1.407|2|5|13|1p36.11|TRIM63, RNF28, SMRZ|P|Tripartite motif containing 63||606131|A|||| | ||
1.408|5|28|98|1p33|FOXD2, FKHL17, FREAC9|P|Forkhead box D2||602211|A|||| | ||
1.409|8|31|10|1p34-p32|MACST|P|Macrostomia||613545|Ch|max lod at D1S2797||Macrostomia (2)| | ||
1.410|9|11|91|1p33|CYP4B1|P|Cytochrome P450, subfamily IVB, polypeptide 1||124075|REa|||| | |4(Cyp4a)|
1.411|11|4|91|1p31.3|DDIT1, GADD45|P|DNA damage-inducible transcript-1||126335|REa|||| | ||
1.412|1|11|07|1p33|CYP4A11|C|Cytochrome P450, subfamily IVA, polypeptide 11||601310|Psh, REc|||| | ||
1.413|8|2|13|1p33|CYP4A22|P|Cytochrome P450, family 4, subfamily A, polypeptide 22||615341|REc|||| | ||
1.414|1|9|13|1p33|CYP4X1, CYPIVX1|P|Cytochrome P450, family 4, subfamily X, polypeptide 1||614999|REc|||| | ||
1.415|11|19|13|1p33|FAAH|C|Fatty acid amide hydrolase||602935|R, REc|||{Drug addiction, susceptibility to}, 606581 (3)| | |4(Faah)|
1.416|3|18|11|1p32.3|FAF1, HFAF1|P|Fas-associated factor 1||604460|REc|||| | ||
1.417|10|13|09|1p33|KNCN, KINO, L5|P|Kinocilin||611455|REc|||| | |4(Kncn)|
1.418|8|29|02|1p33|MAP17|P|Membrane-associated protein 17||607178|REc, H|near SLC in human, mouse, chicken, zebrafish||| | ||
1.419|7|17|09|1p33|MKNK1, MNK1|P|Mitogen-activated protein kinase-interacting serine/threonine kinase 1||606724|R, REc|||| | ||
1.420|11|3|94|1p34.3|MTF1|P|Metal-regulatory transcription factor 1||600172|A|||| | ||
1.421|9|9|13|1p33|NSUN4|P|NPO2/SUN domain family, member 4||615394|REc|||| | ||
1.422|4|6|11|1p33|OFC13|P|Orofacial cleft 13||613857|Fd|associated with rs3827730||Orofacial cleft 13 (2)| | ||
1.423|1|29|96|1p34.1|SLC6A9, GLYT1|C|Solute carrier family 6 (neurotransmitter transporter, glycine),|member 9|601019|A|||| | |4(Slc6a9)|
1.424|5|3|11|1p33|SPATA6, SRF1, HASH|P|Spermatogenesis-associated protein 6||613947|REc|||| | ||
1.425|12|27|13|1p33|STIL, SIL, MCPH7|C|SCL/TAL1-interrupting locus||181590|REn, REc|within about 250kb of SCL||Microcephaly 7, primary, autosomal recessive, 612703 (3)| | ||
1.426|12|10|12|1p33|TRABD2B, TIKI2|P|TRAB domain-containing protein 2B||614913|REc|||| | ||
1.427|9|8|06|1p34.1|BEST4, VMD2L2|P|Bestrophin 4||607336|A|||| | ||
1.428|9|10|12|1p32.3|DMRTA2|P|Doublesex- and MAB3-related transcription factor A2||614804|REc|||| | ||
1.429|5|4|09|1p33-p32|BMND14|P|Bone mineral density quantitative trait locus 14||612728|Fd|associated with rs17131547||[Bone mineral density QTL 14] (2)| | ||
1.430|10|10|11|1p34.2|COL9A2, EDM2, STL5|C|Collagen IX, alpha-2 polypeptide||120260|REa, A, REn, Fd|||Epiphyseal dysplasia, multiple, 2, 600204 (3); {Intervertebral|disc disease, susceptibility to}, 603932 (3); Stickler syndrome, type V, 614284 (3)| |4(Col9a2)|
1.431|12|6|01|1p34.3|MYCBP|P|MYC-binding protein||606535|A|||| | ||
1.432|5|2|01|1p34.1|AKR1A1, ALR|P|Aldo-keto reductase family 1, member A1 (aldehyde reductase)||103830|A|||| | ||
1.433|8|9|99|1p34.1|B4GALT2|P|Beta-1,4-galactosyltransferase 2||604013|A, REc|||| | ||
1.434|6|15|99|1p32.3|DIO1, TXDI1|P|Deiodinase, iodothyronine, type I||147892|A|||| | |4(Dio1)|
1.435|2|27|07|1p33-p32|RHDNS1|P|Renal hypodysplasia, nonsyndromic, 1||610805|Fd|max lod at D1S2652||Renal hypodysplasia, nonsyndromic, 1 (2)| | ||
1.436|9|22|95|1p22.1|TGFBR3|P|Transforming growth factor, beta receptor III (betaglycan,|300kD)|600742|Psh, A|||| | ||
1.437|10|31|01|1p32.3|DHCR24, KIAA0018|C|24-dehydrocholesterol reductase||606418|REa, REc|||Desmosterolosis, 602398 (3)| | ||
1.438|1|27|11|1p33-p31.1|FWS|P|Forsythe-Wakeling syndrome||613606|Fd|between rs2354462 and rs718883||Forsythe-Wakeling syndrome (2)| | ||
1.439|3|17|94|1p35.2|FABP3|C|Fatty acid-binding protein 3, muscle||134651|REa, A|||| | |4(Fabph1)|
1.440|3|24|06|1p32.3|ACOT11, THEA, BFIT, BFIT1, BFIT2, KIAA0707|C|Acyl-CoA thioesterase 11||606803|REa, R, H|||| | |4(Thea)|
1.441|11|19|13|1p34.1|ATP6V0B, ATP6F|P|ATPase, H+ transporting, lysosomal 21kD, V0 subunit c''||603717|A, R|||| | |4(Atp6v0b)|
1.442|12|24|08|1q32.3|BATF3|P|Basic leucine zipper transcription factor, ATF-like, 3||612470|REc|||| | ||
1.443|8|19|13|1p32.3|GLIS1|P|Glis family zinc finger protein 1||610378|REc, R|||| | |4(Glis1)|
1.444|5|17|04|1p32.3|PODN|P|Podocan||608661|REc|||| | ||
1.445|7|3|06|1p32.3|TMEM48, NDC1|P|Transmembrane protein 48||610115|R, REc|||| | ||
1.446|6|30|05|1p32.3|TXNDC12, TLP19, ERP18|P|Thioredoxin domain-containing protein 12||609448|REc|||| | ||
1.447|5|13|09|1p32.3|USP24, KIAA1057|P|Ubiquitin-specific protease 24||610569|R, REc|||| | ||
1.448|3|23|12|1p34.3|SNIP1, PMRED|P|SMAD nuclear interacting protein 1||608241|REc|||Psychomotor retardation, epilepsy, and craniofacial dysmorphism,|614501 (3) | ||
1.449|9|10|12|1p32.3|DMRTB1|P|Doublesex- and MAB3-related transcrption factor B1||614805|REc|||| | ||
1.450|7|2|98|1p32.3|NRD1|C|Nardilysin (N-arginine dibasic convertase)||602651|A|||| | ||
1.451|6|9|08|1p32.3|PARS2|P|Prolyl-tRNA synthetase 2||612036|REc|||| | ||
1.452|4|17|08|1p32.1|HOOK1, HK1|C|Hook, Drosophila, homolog of, 1||607820|REc, A|||| | |4(Hook1)|
1.453|3|5|08|1p32.3|MRPL37|P|Mitochondrial ribosomal protein L37||611843|REc|||| | ||
1.454|8|1|08|1p32.1|MYSM1, 2ADUB, KIAA1915|P|MYB-like, SWIRM, and MPN domains-containing protein 1||612176|REc|||| | ||
1.455|11|22|13|1p31.3|DNAJC6, DJC6, KIAA0473, PARK19|P|DNAJ, E. coli, homolog of, subfamily C, member 6||608375|R, REc|||Parkinson disease 19, juvenile-onset, 615528 (3)| | ||
1.456|6|18|99|1p31.3|USP1|P|Ubiquitin-specific protease 1||603478|A, R|||| | ||
1.457|4|14|11|1p32.2|C8A|C|Complement component-8, alpha polypeptide||120950|F, A, Ch, Fd|||C8 deficiency, type I, 613790 (3)| | ||
1.458|3|10|11|1p32.2|C8B|C|Complement component-8, beta polypeptide||120960|F, A, Ch, H, Fd|||C8 deficiency, type II, 613789 (3)| | |4(C8b)|
1.459|10|6|08|1p32.3|CDCP2|P|Cub domain-containing protein 2||612320|REc|?associated with PARK10||| | ||
1.460|6|18|99|1p32.3|CDKN2C, INK4C|P|Cyclin-dependent kinase inhibitor 2C||603369|A|||| | ||
1.461|10|3|11|1p32.3|CPT2, IIAE4|C|Carnitine palmitoyltransferase II||600650|REa, A|formerly at 1p13||Myopathy due to CPT II deficiency, 255110 (3); CPT deficiency,|hepatic, type II, 600649 (3); CPT II deficiency, lethal neonatal, 608836 (3); {Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)| ||
1.462|11|13|94|1p32.3|EPS15|P|Epidermal growth factor receptor pathway substrate-15||600051|REc|||| | ||
1.463|7|17|06|1p33|FOXE3, FKHL12, ASMD|P|Forkhead box E3||601094|A|||Anterior segment mesenchymal dysgenesis, 107250 (3); Aphakia,|congenital primary, 610256 (3) | ||
1.464|5|24|13|1p35.1|KHDRBS1, SAM68|P|KH domain-containing, RNA-binding, signal transduction-associated|protein 1|602489|REc|||| | ||
1.465|1|30|01|1p34.2|NFYC, CBFC|C|Nuclear transcription factor Y, gamma||605344|REc, H|||| | |4(Nfyc)|
1.466|5|15|11|1p32.3|ORC1, ORC1L|P|Origin recognition complex, subunit 1, S. cerevisiae, homolog||601902|Psh, A|||Meier-Gorlin syndrome 1, 224690 (3)| | ||
1.467|9|24|08|1p32|PARK10, AAOPD|C|Parkinson disease 10||606852|Fd|max lod at D1S2652; ?associated with CDCP2||Parkinson disease 10 (2)| | ||
1.468|4|8|08|1p32.3|PCSK9, NARC1, HCHOLA3, FH3, LDLCQ1|C|Proprotein convertase, subtilisin/kexin-type, 9||607786|REc, Fd|||Hypercholesterolemia, familial, 3, 603776 (3); {Low density|lipoprotein cholesterol level QTL 1}, 603776 (3) | ||
1.469|1|5|12|1p34.2|PPT1, CLN1|C|Palmitoyl-protein thioesterase 1||600722|Fd, LD, REn, A, REc|||Ceroid lipofuscinosis, neuronal, 1, 256730 (3)| | ||
1.470|3|1|06|1p34.1|PRNPIP, PINT1|P|Prion protein-interacting protein||609917|REc, R|||| | ||
1.471|1|14|02|1p34.1|PTCH2|P|Patched, Drosophila, homolog of, 2||603673|R, Psh|||Medulloblastoma, 155255 (3); Basal cell carcinoma, somatic, 605462|(3) | |4(Ptch2)|
1.472|3|21|93|1p34.2|PTPRF, LAR|P|Protein tyrosine phosphatase, receptor type, f polypeptide||179590|A|||| | |4(Ptprf)|
1.473|1|25|12|1p34.1|RAD54L, HR54, HRAD54|P|RAD54, S. cerevisiae, homolog-like||603615|A|||{Breast cancer, invasive ductal}, 114480 (3); Lymphoma, non-Hodgkin,|somatic, 605027 (3); Adenocarcinoma, colonic, somatic (3) | ||
1.474|1|26|93|1p34.2|RLF|C|Rearranged L-myc fusion sequence||180610|REa, REn|<800kb from MYCL1||| | ||
1.475|7|3|06|1p32.3|SCP2|C|Sterol carrier protein-2||184755|Psh, REa|||Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3)| | |4(Scp2)|
1.476|9|3|10|1p32|STQTL23|P|Stature quantitative trait locus 23||613548|Fd|linked to rs628667||{Stature QTL 23} (2)| | ||
1.477|6|10|02|1p32.1|TACSTD2, TROP2, M1S1|C|Tumor-associated calcium signal transducer 2||137290|REa, A|||Corneal dystrophy, gelatinous drop-like, 204870 (3)| | ||
1.478|4|4|00|1p33|TAL1, TCL5, SCL|C|T-cell acute lymphocytic leukemia-1||187040|Ch, RE|proximal to MYCL1||Leukemia-1, T-cell acute lymphocytic (3)| | |4(Scl)|
1.479|5|25|13|1p34.1|TESK2|P|Testis-specific protein kinase 2||604746|A|||| | ||
1.480|2|12|08|1p33|CMPK1, CMPK, UMPK, UMK, CMK|C|Cytidine monophosphate (UMP-CMP) kinase 1, cytosolic||191710|S, R, F|||| | ||
1.481|6|18|99|1p32.2|DAB1|P|Disabled, Drosophila, homolog 1||603448|R, H|||| | |4(Dab1)|
1.482|2|8|11|1p32-p31|DEL1p32p31, C1DELp32p31|P|Chromosome 1p32-p31 deletion syndrome||613735|Ch|contiguous gene (4.93Mb) deletion syndrome||Chromosome 1p32-p31 deletion syndrome (4)| | ||
1.483|8|21|91|1p32.1|JUN|C|Avian sarcoma virus 17 (v-jun) oncogene homolog||165160|REa, A, H|||| | |4(Jun)|
1.484|2|16|04|1p34.3|MACF1, ACF7, KIAA1251|C|Microtubule-actin cross-linking factor 1||608271|R, REc, A|||| | |4(Macf1)|
1.485|4|11|11|1p31.1|NEXN, NELIN, CMD1CC, CMH20|P|Nexilin, rat, homolog of||613121|REc|||Cardiomyopathy, dilated, 1CC, 613122 (3); Cardiomyopathy, familial|hypertrophic, 20, 613876 (3) | ||
1.486|4|16|98|1p31.3|NTRKR1, ROR1|P|Neurotrophic tyrosine kinase, receptor-related 1||602336|A|||| | ||
1.487|9|13|89|1p32.3|RAB3B|P|Brain antigen RAB3B||179510|REb, A|||| | ||
1.488|2|17|09|1p32.3|RNF11|P|Ring finger protein 11||612598|Psh, R|||| | ||
1.489|1|22|09|1p31.3|SLC35D1, UGTREL7, KIAA0260|C|Solute carrier family 35 (UDP-glucuronic|acid/UDP-N-acetylgalactosamine dual transporter), member D1|610804|R, A|||Schneckenbecken dysplasia, 269250 (3)| | ||
1.490|8|8|91|1p21.2|VCAM1|P|Vascular cell adhesion molecule-1||192225|REa, A|||| | |3(Vcam1)|
1.491|3|21|93|1p34.1|IPP|P|Intracisternal A particle-promoted polypeptide||147485|REa|||| | |4(Ipp)|
1.492|3|1|05|1p31.3|AK3|C|Adenylate kinase-3, mitochondrial||103030|REc, H|||| | |4(Ak3)|
1.493|8|3|12|1p31.3|DIRAS3, ARHI|P|DIRAS family, GTP-binding RAS-like protein 3||605193|Psh, A|||| | ||
1.494|9|23|13|1p31.3|GNG12|P|Guanine nucleotide-binding protein, gamma 12||615405|REc, R|||| | |6(Gng12)|
1.495|9|23|13|1p31.3|GNG12AS1|P|GNG12 antisense RNA 1||615406|REc|||| | ||
1.496|1|12|11|1p31.3|IL23R, IBD17|P|Interleukin 23 receptor||607562|REc|||{Inflammatory bowel disease 17, protection against}, 612261 (3);|{Psoriasis, protection against}, 605606 (3) | ||
1.497|1|17|08|1p31.3|INADL, PATJ|P|INAD, Drosophila, homolog of||603199|REc, R|||| | ||
1.498|7|17|09|1p31.3|ITGB3BP, NRIF3|P|Integrin, beta-3, binding protein of||605494|R, REc|||| | ||
1.499|7|10|93|1p31.3|JAK1|C|Janus kinase 1 (a protein-tyrosine kinase)||147795|REa, A, Fd|related gene on 9p24||| | |4(Jak1)|
1.500|5|4|12|1p31.3|KANK4|P|KN motif- and ankyrin repeat domain-containing protein 4||614612|REc|||| | ||
1.501|3|23|09|1p31.3|MIR101-1, MIRN101-1|P|Micro RNA 101-1||612511|REc|another locus, MIRN101-2, on 9p24||| | ||
1.502|3|14|13|1p31.3|OPHLC, C1DUPp31.3, DUP1p31.3|P|Omphalocele due to duplication of 1p31.3||164750|Ch|duplication of 710kb at 1p31.3||Omphalocele due to duplication of 1p31.3 (4)| | ||
1.503|3|14|06|1p31.3|RAVER2, KIAA1579|P|Raver2, mouse, homolog of||609953|R, REc|||| | ||
1.504|8|20|08|1p31.3|SGIP1|P|SH3-domain GRB2-like (endophilin)-interacting protein 1||611540|REc|||| | ||
1.505|12|5|02|1p32.3|SSBP3|P|Single-stranded DNA-binding protein 3||607390|REc|||| | ||
1.506|8|19|13|1p31.3|TM2D1, BBP|P|TM2 domain-containing protein 1||610080|R, REc|||| | ||
1.507|5|6|03|1p32.3|TTC4|P|Tetratricopeptide repeat domain 4||606753|A|pseudogene on 7p14-p13||| | ||
1.508|5|26|13|1p31.1|TYW3|P|tRNA-wybutosine-synthesizing protein 3, S. cerevisiae, homolog of||611245|REc|||| | ||
1.509|9|23|13|1p31.3|WLS, GPR177, EVI|P|WNTless, Drosophila, homolog of||611514|REc, R|||| | ||
1.510|7|2|98|1p32.1|CYP2J2|P|Cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase),|polypeptide 2|601258|REa, A|||| | |4(Cyp2j2)|
1.511|9|22|95|1p31.3|NFIA|P|Nuclear factor I/A||600727|A|||| | |4(Nfia)|
1.512|11|13|12|1p31.3-p31.1|POROK5, DSAP3|P|Porokeratosi 5, disseminated superficial actinic||612293|between D1S438 and D1S464|||Porokeratosis 5, disseminated superficial actinic (2)| | ||
1.513|4|24|08|1p31.2|DEPDC1|P|DEP domain-containing 1||612002|REc|||| | ||
1.514|6|9|98|1p31.3|IL12RB2|C|Interleukin 12 receptor, beta-2||601642|A, Psh, R|||| | ||
1.515|9|10|09|1p31.2|PBC3|P|Biliary cirrhosis, primary, 3||613008|Fd|associated with rs3790567||{Biliary cirrhosis, primary, 3} (2)| | ||
1.516|6|15|95|1p31.1|PTGER3, EP3|P|Prostaglandin E receptor 3, EP3 subtype||176806|A|||| | |3(Ptger3)|
1.517|4|5|13|1p31.1|ANKRD13C|P|Ankyrin repeat domain-containing protein 13C||615125|RE|||| | ||
1.518|5|31|05|1p31.1|CTH|C|Cystathionine gamma-lyase||607657|R, REc|previously assigned to chr.16||Cystathioninuria, 219500 (3); Homocysteine, total plasma, elevated|(3) | ||
1.519|5|25|13|1p31.1|FPGT, GFPP|P|Fucose-1-phosphate guanylyltransferase||603609|REc|||| | ||
1.520|6|1|09|1p31.1|FUBP1, FUBP, FBP|P|Far upstream element-binding protein 1||603444|REc|||| | ||
1.521|5|25|13|1p31.1|HHLA3|P|Human endogenous retrovirus-H long terminal repeat-associating 3||604372|REc|||| | ||
1.522|6|11|11|1p31.1|IFI44L|P|Interferon-induced protein 44-like||613975|REc|||| | ||
1.523|3|14|07|1p31.1|IFI44, P44|P|Interferon-induced protein 44||610468|R, REc|||| | ||
1.524|12|3|07|1p31.1|LHX8|P|LIM homeobox 8||604425|REc|||| | ||
1.525|1|14|13|1p31.1|LPHN2, LPHH1|P|Latrophilin 2||607018|Ch, REc|||| | ||
1.526|1|30|12|1p31.1|LRRC7, DENSIN, KIAA1365|C|Leucine-rich repeat-containing protein 7||614453|Psh, REc|||| | ||
1.527|12|21|09|1p31.1|NEGR1, KILON|P|Neuronal growth regulator 1||613173|REc|||| | ||
1.528|7|27|09|1p31.1|PIGK, GPI8|P|Phosphatidylinositol glycan, class K||605087|REa, REc|||| | ||
1.529|4|18|11|1p31.1|PRKACB|P|Protein kinase, cAMP-dependent, catalytic, beta||176892|REa, A, REc|||| | ||
1.530|6|16|95|1p31.1|PTGFR|P|Prostaglandin F receptor (FP)||600563|A|||| | |3(Ptgfr)|
1.531|12|19|11|1p31.1|SRSF11, SFRS11|P|Splicing factor, serine/arginine-rich, 11||602010|REc|||| | ||
1.532|8|19|13|1p31.1|ST6GALNAC3, SIAT7C|P|ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,|3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3|610133|R, REc|||| | ||
1.533|7|8|09|1p31.1|ST6GALNAC5, SIAT7E|P|ST6 alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,|3-N-acetylgalactosaminide alpha-2,6 sialyltransferase 5|610134|REc|||| | ||
1.534|4|26|11|1p31.1|TNNI3K|P|TNNI3-interacting kinase||613932|REc|||| | ||
1.535|4|8|13|1p31.1|USP33, VDU1|C|Ubiquitin-specific protease 33||615146|R, REc|||| | ||
1.536|11|1|01|1p31.3|INSL5|P|Insulin-like 5||606413|R|||| | ||
1.537|6|27|08|1p22.3|LPAR3, EDG7, LPA3|P|Lysophosphatidic acid receptor 3||605106|R, H|||| | |3(Edg7)|
1.538|4|27|12|1p31.1-p21.1|SPG29|P|Spastic paraplegia 29, autosomal dominant||609727|Fd|max lod at D1S2865||Spastic paraplegia 29, autosomal dominant (2)| | ||
1.539|6|26|02|1p31.1|ACADM, MCAD|P|Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain||607008|REa,A|||Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)| | |3(Acadm)|
1.540|1|12|07|1p31.1|AK5|P|Adenylate kinase 5||608009|R|||| | ||
1.541|5|8|97|1p31|AIR|P|Acute insulin response||601676|Fd|||Acute insulin response (2)| | ||
1.542|11|19|11|1p31.3|FOXD3, AIS1, VAMAS2|C|Forkhead box D3||611539|Fd, Psh, H|||{Autoimmune disease, susceptibility to, 1}, 607836 (3)| | |4(Foxd3)|
1.543|1|7|11|1p31.3|ANGPTL3, ANGPT5, FHBL2|C|Angiopoietin-like 3||604774|R, H|||Hypobetalipoproteinemia, familial, 2, 605019 (3)| | |4(Angptl3, hypl)|
1.544|4|17|07|1p31|ASRT4|P|Asthma-related traits, susceptibility to, 4||610906|Fd|max lod at D1S2890||{Asthma-related traits, susceptibility to, 4} (2)| | ||
1.545|11|3|09|1p32.3|BSND|P|Barttin||606412|Fd, REc|||Bartter syndrome, type 4a, 602522 (3); Sensorineural deafness with|mild renal dysfunction, 602522 (3) | ||
1.546|11|6|98|1q22|CLK2|C|CDC-like kinase 2||602989|Psh, REn|near GDLD and PRKAA2; conflicting assignment 1q21||| | ||
1.547|6|20|91|1p21.2|DBT, BCATE2|C|Dihydrolipoamide branched chain transacylase (E2 component of|branched chain keto acid dehydrogenase complex)|248610|REa, A|pseudogene on 3q24||Maple syrup urine disease, type II, 248600 (3)| | ||
1.548|12|11|12|1p31.3|LEPR, OBR, LEPRD|P|Leptin receptor||601007|H, REc, R, Fd|||Obesity, morbid, due to leptin receptor deficiency, 614963 (3)| | |4(Lepr)|
1.549|9|7|10|1p31.3|LEPROT, OBRGRP|P|Leptin receptor overlapping transcript||613461|REc|transcribed in same direction as LEPR||| | ||
1.550|6|2|98|1p31.1|MSH4|P|mutS, E. coli, homolog of, 4||602105|A|||| | ||
1.551|3|26|02|1p31|PAOD1|P|Peripheral arterial occlusive disease 1||606787|Fd|||Peripheral arterial occlusive disease 1 (2)| | ||
1.552|10|9|94|1p31.3|PDE4B, DPDE4|C|Phosphodiesterase-4B, cAMP-specific (dunce-like phosphodiesterase E4)||600127|RE, A|||| | |4(Pde4b)|
1.553|11|12|12|1p31.3|PGM1, GSD14, GSD14, CDG1T|C|Phosphoglucomutase-1||171900|F, S, R|distal to ACADM; formerly 1p22.1||Glycogen storage disease XIV, 612934 (3); Congenital disorder of|glycosylation, type It, 614921 (3) | |4(Pgm2)|
1.554|3|9|98|1p31.1|PIN1L|P|Peptidyl-prolyl cis/trans isomerase, NIMA-interacting-like||602051|A|?transcribed pseudogene||| | ||
1.555|8|17|98|1p32.2|PRKAA2, AMPK|P|Protein kinase, AMP-activated, alpha-2 catalytic subunit||600497|Psh, A|||| | ||
1.556|2|12|01|1p31.1|RABGGTB|C|Rab geranylgeranyltransferase, beta subunit||179080|REa, A|||| | |3(Rabggtb)|
1.557|3|10|11|1p31.3-p31.2|RPE65, RP20, LCA2|C|Retinal pigment epithelium-specific protein, 65kD||180069|REa, A, Fd|||Leber congenital amaurosis 2, 204100 (3); Retinitis pigmentosa 20,|613794 (3) | |3(Rpe65)|
1.558|7|9|06|1p22.3|SEP15|P|Selenoprotein, 15kD||606254|REc|||| | ||
1.559|6|18|99|1p22.3|CLCA1|P|Chloride channel, calcium-activated, 1||603906|A|||| | ||
1.560|2|9|00|1p22.3|CLCA2|P|Chloride channel, calcium-activated, 2||604003|R|||| | ||
1.561|2|9|00|1p22.3|CLCA3|P|Chloride channel, calcium-activated, 3||604337|R|||| | ||
1.562|1|11|95|1p31.1|CRYZ|P|Crystallin, zeta (quinone reductase)||123691|REa, A|||| | ||
1.563|8|12|01|1p31-p21|AVSD1, AVCD|P|Atrioventricular septal defect, susceptibility to, 1||606215|Fd|||{Atrioventricular septal defect, susceptibility to, 1} (2)| | ||
1.564|1|30|01|1p31.3|ALG6, CDG1C|P|Alg6, S. cerevisiae, homolog of||604566|REc|||Congenital disorder of glycosylation, type Ic, 603147 (3)| | ||
1.565|5|19|06|1p22.3|COL24A1|P|Collagen, type XXIV, alpha-1||610025|REc, R|||| | ||
1.566|01|26|00|1p22.3|CYR61, IGFBP10|C|Cysteine-rich angiogenic inducer, 61|(insulin-like growth factor-binding protein-10)|602369|A|||| | |3(Igfbp10)|
1.567|3|11|09|1p31.1|DNASE2B, DLAD|P|Deoxyribonuxlease II beta||608057|A|||| | ||
1.568|1|30|01|1p22.3|LMO4|P|LIM domain only 4||603129|A|||| | |3(Lmo4)|
1.569|8|28|09|1p22.3|MCOLN3|P|Mucolipin 3||607400|R, H, REc|||| | |3(Mcoln3)|
1.570|1|28|08|1p22.2|CCBL2, KAT3|P|Cysteine conjugate beta-lyase 2||610656|REc|||| | |3(Kat3)|
1.571|12|23|08|1p22.2|GBP1|C|Guanylate binding protein 1, interferon-inducible, 67kD||600411|REa, REc|||| | |3(Gbp1)|
1.572|12|24|08|1p22.2|GBP2|P|Guanylate-binding protein 2, interferon-inducible||600412|REc|||| | ||
1.573|12|24|08|1p22.2|GBP3|P|Guanylate-binding protein 3||600413|REc|||| | ||
1.574|12|24|08|1p22.2|GBP4|P|Guanylate-binding protein 4||612466|REc|||| | ||
1.575|12|24|08|1p22.2|GBP5|C|Guanylate-binding protein 5||611467|REc|||| | ||
1.576|12|24|08|1p22.2|GBP6|P|Guanylate-binding protein 6||612467|REc|||| | ||
1.577|12|24|08|1p22.2|GBP7|P|Guanylate-binding protein 7||612468|REc|||| | ||
1.578|7|22|09|1p22.2|LRRC8B, TALRRP, KIAA0231|P|Leucine-rich repeat-containing protein 8B||612888|REc|||| | |5(Lrrc8b)|
1.579|7|22|09|1p22.2|LRRC8C, FAD158, AD158|P|Leucine-rich repeat-containing protein 8C||612889|REc|||| | |5(Lrrc8c)|
1.580|7|22|09|1p22.2|LRRC8D, LRRC5|P|Leucine-rich repeat-containing protein 8D||612890|REc|||| | |5(Lrrc8d)|
1.581|11|30|06|1p22.2|PKN2, PRKCL2, PRK2, PAK2|P|Protein kinase N2||602549|REc, R|||| | ||
1.582|4|27|12|1p22.2|ZNF326, ZIRD|P|Zinc finger protein 326||614601|REc|||| | ||
1.583|8|25|11|1p22.2|ZNF644, MYP21|P|Zinc finger protein 644||614159|REc|||Myopia 21, autosomal dominant, 614167 (3)| | ||
1.584|6|7|10|1p22.1|ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2|C|ATP-binding transporter, retina-specific||601691|R, REc, Fd|||Stargardt disease 1, 248200 (3); Retinitis pigmentosa 19, 601718 (3);|Cone-rod dystrophy 3, 604116 (3); Macular degeneration, age-related, 2, 153800 (3); Fundus flavimaculatus, 248200 (3); Retinal dystrophy, early-onset severe,|248200 (3) ||
1.585|1|14|07|1p22.1-p21.3|ARHGAP29, PARG1|P|RHO GTPase-activating protein 29||610496|R, REc|||| | ||
1.586|2|12|13|1p22.1|BRDT|P|Bromodomain, testis-specific||602144|R, REc|||| | ||
1.587|5|23|13|1p22.1|DNTTIP2, ERBP, FCF2|P|DNTT-interacting protein 2||611199|REc|||| | ||
1.588|11|13|96|1p22.1|DR1|P|Down-regulator of transcription 1, TBP-binding (negative cofactor 2)||601482|A|||| | ||
1.589|4|2|12|1p22.1|FAM69A|P|Family with sequence similarity 69, member A||614542|REc|||| | ||
1.590|9|16|12|1p22.1|FNBP1L, TOCA1, C1orf39|P|Formin binding protein 1-like||608848|REc|||| | ||
1.591|11|2|11|1p22.1|GCLM, GLCLR|C|Glutamate-cysteine ligase, modifier subunit||601176|REa, A, REc|||{Myocardial infarction, susceptibility to}, 608446 (3)| | |3(Glclr)|
1.592|3|22|06|1p22.1|MTF2, PCL2, M96|P|Metal-regulatory transcription factor 2||609882|R, REc|||| | ||
1.593|10|13|09|1p22.1|RPAP2, C1orf82|P|RNA polymerase II-associated protein 2||611476|R, REc|||| | ||
1.594|2|3|09|1p22.1|RPL5, DBA6|C|Ribosomal protein L5||603634|R, RE, REc|||Diamond-Blackfan anemia 6, 612561 (3)| | ||
1.595|2|2|01|1p31.1|ZNF265, ZIS|P|Zinc finger protein-265||604347|A, R|||| | ||
1.596|8|17|12|1p22.1-p13.3|DFNB32|P|Deafness, autosomal recessive 32||608653|Fd|max lod at D1S21401||Deafness, autosomal recessive 32 (2)| | ||
1.597|2|19|13|1p22.3|BCL10|P|B-cell leukemia/lymphoma 10||603517|Ch|||Lymphoma, MALT, somatic, 137245 (3); {Lymphoma, follicular, somatic},|613024 (3); {Male germ cell tumor, somatic}, 273300, (3); {Sezary syndrome, somatic}, (3);|{Mesothelioma, somatic}, 156240 (3) ||
1.598|11|24|98|1p22.2|CDC7L1, CDC7|P|Cell division cycle 7, S. Cerevisiae, homolog-like 1||603311|R|||| | |5(Cdc7l1)|
1.599|11|2|04|1p22|CMM4|P|Melanoma, cutaneous malignant, 4||608035|Fd|between D1S430 and D1S2664||{Melanoma, cutaneous malignant, 4} (2)| | ||
1.600|12|5|95|1p22.3|CTBS, CTB|P|Chitobiase, di-N-acetyl-||600873|Psh, A|||| | ||
1.601|9|9|08|1p13.2|CSDE1, D1S155E, UNR|P|Cold-shock domain-containing E1, RNA-binding||191510|REn|130bp 5' to NRAS||| | ||
1.602|11|6|00|1p22.3|DDAH1|P|Dimethylarginine dimethylaminohydrolase-1||604743|R, A|||| | ||
1.603|5|19|09|1p21.3|DPYD, DPD|C|Dihydropyrimidine dehydrogenase||612779|REa, A|||Dihydropyrimidine dehydrogenase deficiency, 274270 (3);|5-fluorouracil toxicity, 274270 (3) | ||
1.604|12|24|08|1p22.1|EVI5, NB4S|P|Ecotropic viral integration site 5||602942|Ch|||| | ||
1.605|11|11|09|1p22.1|GFI1, ZNF163, SCN2|C|Growth factor independent 1||600871|REa, A|||Neutropenia, severe congenital 2, autosomal dominant, 613107 (3);|Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3) | |5(Gfi1)|
1.606|12|5|95|1p22.3|GNG5|P|Guanine nucleotide-binding protein (G protein), gamma 5||600874|Psh, A|||| | ||
1.607|7|17|09|1p22.3|HS2ST1|P|Heparan sulfate 2-O-sulfotransferase 1||604844|R, REc|||| | ||
1.608|2|14|13|1p22|KAZA2|P|Kala-azar, susceptibility to, 2||611381|Fd|||{Kala-azar, susceptibility to, 2} (2)| | ||
1.609|8|28|09|1p22.3|MCOLN2|P|Mucolipin 2||607399|R, H, REc|incorrectly assigned to chr.3||| | |3(Mcoln2)|
1.610|10|25|11|1p21.3|MIR137, MIRN137|P|Micro RNA 137||614304|REc|||| | ||
1.611|7|1|05|1p13.1|TRIM45|P|Tripartite motif-containing protein 45||609318|REc|||| | ||
1.612|1|4|93|1p22|UOX|P|Urate oxidase, pseudogene||191540|REa, A|nonsense mutations responsible for absence of enzyme in man and|hominoid primates|[Urate oxidase deficiency] (1)| | ||
1.613|10|11|12|1p21.3|ABCD3, PXMP1, PMP70|P|ATP-binding cassette, subfamily D, member 3|(peroxisomal membrane protein 1, 70kD)|170995|REa, A|||| | |3(Pmp70)|
1.614|2|20|98|1p21.3|CNN3|P|Calponin 3, acidic||602374|A|||| | ||
1.615|10|7|88|1p21.3|F3, TFA|C|Coagulation factor III||134390|S, REb, Fd, A|||| | ||
1.616|4|22|02|1p22.1|GLML, GVM, VMGLOM|C|Glomulin||601749|Fd, REc|||Glomuvenous malformations, 138000 (3)| | ||
1.617|5|6|09|1p22.2|GTF2B, TFIIB, TF2B|P|General transcription factor IIb||189963|REc|||| | ||
1.618|7|13|09|1p21.3|ALG14|P|Alg14, S. cerevisiae, homolog of||612866|REc|||| | ||
1.619|5|16|06|1p21.2|LPPR4, PRG1, KIAA0455|P|Lipid phosphate phosphatase-related protein type 4||607813|REc|||| | ||
1.620|12|10|12|1p21.3|SNX7|P|Sorting nexin 7||614904|REc|||| | ||
1.621|5|11|07|1p13.2|CHIA, TSA1902, CHIT2|P|Chitinase, acidic||606080|R|||| | ||
1.622|3|1|06|1p21.3-p13.3|RP32|P|Retinitis pigmentosa-32||609913|Fd|max lod at D1S485||Retinitis pigmentosa 32 (2)| | ||
1.623|8|21|07|1p21.2|DPH5, HSPC143|P|DPH5, S. crevisiae, homolog of||611075|R, REc|||| | ||
1.624|12|7|07|1p21.2|FRRS1, SDR2|P|Ferric chelate reductase 1||611578|R, REc|||| | ||
1.625|5|26|13|1p21.2|RTCD1, RPC|P|RNA terminal phosphate cyclase domain-containing protein 1||611286|REc, R|||| | ||
1.626|7|1|05|1p21.2|SAS6|P|Sas6, C. elegans, homolog of||609321|REc|||| | ||
1.627|2|25|08|1p21.2|SLC30A7, ZNT7|C|Solute carrier family 30 (zinc transporter), member 7||611149|REc, H|||| | |3(Slc30a7)|
1.628|6|13|07|1p21.1-p13.3|MRT4|P|Mental retardation, autosomal recessive, 4||611107|Fd|between D2S429 and D1S187||Mental retardation, autosomal recessive, 4 (2)| | ||
1.629|1|11|07|1p13.2|DDX20|C|DEAD/H box 20||606168|R, REc|||| | ||
1.630|7|20|09|1p21.1-q21.3|MUHH2|P|Marie Unna hereditary hypotrichosis 2||612841|Fd|max lod at D1S2881||Hypotrichosis, hereditary, Marie Unna type, 2 (2)| | ||
1.631|3|26|07|1p21.2|AGL, GDE|C|Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen|debranching enzyme)|610860|REc, A|||Glycogen storage disease IIIa, 232400 (3); Glycogen storage disease|IIIb, 232400 (3) | ||Yang (1992); Yang-Feng (1992)
1.632|10|23|87|1p21.1|AMY1A|C|Amylase, salivary, alpha-1A||104700|F, A, REa|multiple amylase genes||| | |3(Amy1)|
1.633|10|31|91|1p21.1|AMY1B|C|Amylase, salivary, alpha-1B||104701|REn|||| | ||
1.634|11|4|91|1p21.1|AMY1C|C|Amylase, salivary, alpha-1C||104702|REn|||| | ||
1.635|9|14|88|1p21.1|AMY2A|C|Amylase, pancreatic, alpha-2A||104650|F, A, REa|||| | |3(Amy2)|
1.636|6|4|90|1p21.1|AMY2B|C|Amylase, pancreatic, alpha-2B||104660|F, A, REa, Fd|distal to NGFB||| | ||
1.637|2|25|11|1p21.1|COL11A1, STL2|C|Collagen XI, alpha-1 polypeptide||120280|REb, A|||Stickler syndrome, type II, 604841 (3); Marshall syndrome, 154780|(3); {Lumbar disc herniation, susceptibility to}, 603932 (3); Fibrochondrogenesis, 228520 (3)| |3(Col11a1)|
1.638|12|22|00|1p13.3|CELSR2, EGFL2, MEGF3|P|Cadherin EGF LAG seven-pass G-type receptor 3|(epidermal growth factor-like 2)|604265|Psh, R|||| | ||
1.639|1|24|02|1p21.2|CDC14A|P|Cell division cycle 14, S. cerevisiae, homolog A||603504|R|?7p11||| | ||
1.640|7|18|12|1q21.1|FAM72D|P|Family with sequence similarity 72, member D||614712|REc|||| | ||
1.641|6|4|99|1p13.3|KCNC4|C|Potassium voltage-gated channel, Shaw-related subfamily, member 4||176265|REa, A|||| | ||
1.642|7|27|09|1p13.3|PROK1, PK1, PRK1, EGVEGF|P|Prokineticin 1||606233|R, REc|||| | ||
1.643|2|16|04|1p21.3|PTBP2, NPTB|P|Polypyrimidine tract-binding protein 2||608449|REc|||| | ||
1.644|9|18|08|1p21.2|S1PR1, EDG1, S1P1|P|Sphingosine-1-phosphate receptor 1||601974|REc|||| | ||
1.645|12|3|01|1p21.2|SLC35A3, AMRS|P|Solute carrier family 35 (UDP-GlcNAc transporter), member 3||605632|A|mutation identified in 1 family||?Arthrogryposis, mental retardation, and seizures, 615553 (3)| | ||
1.646|5|23|06|1p21|STQTL7|P|Stature quantitative trait locus 7||609822|Fd|max lod at D1S1631||{Stature QTL 7} (2)| | ||
1.647|8|9|01|1p13.2|BCAS2, DAM1|P|Breast carcinoma amplified sequence 2||605783|A|||| | ||
1.648|11|4|93|1p13.3|CD53, MOX44|C|CD53 antigen||151525|REa, A|||| | |3(Cd53)|
1.649|1|9|95|1p13.3|KCNA3|C|Potassium voltage-gated channel, shaker-related subfamily, member 3||176263|REa, A|mapped probably in error to chr.13||| | ||
1.650|3|30|00|1p21-p13.3|WS2B|P|Waardenburg syndrome, type 2B||600193|Fd|||Waardenburg syndrome, type 2B (2)| | ||
1.651|5|9|95|1p13.2|ADORA3|C|Adenosine A3 receptor||600445|Fd, REn, H|||| | |3(Adora3)|
1.652|11|3|09|1p13.3|ALX3, FND1|P|Aristaless-like homeobox 3||606014|R|||Frontonasal dysplasia 1, 136760 (3)| | ||
1.653|11|9|13|1p13.2|AMPD1, MMDD|P|Adenosine monophosphate deaminase-1, muscle||102770|REa, A|||Myopathy due to myoadenylate deaminase deficiency, 615511 (3)| | |3(Ampd1)|
1.654|10|27|97|1p13.3|CSF1, MCSF|C|Colony-stimulating factor-1 (macrophage)||120420|A, REa, H|incorrectly assigned to chr.5||| | |3(Csfm)|
1.655|8|28|97|1p13.3|AMPD2|C|Adenosine monophosphate deaminase-2, isoform L||102771|H, REa, A|coamplified with AMPD1 in cancer cell line||| | |3(Ampd2)|
1.656|10|15|09|1p13.3|C1orf59, HEN1|P|Hen1, Drosophila, homolog of||612178|REc|||| | ||
1.657|5|25|13|1p13.3|CHI3L2, YKL39|P|Chitinase 3-like 2||601526|REc|||| | ||
1.658|7|17|09|1p13.3|CYMP|P|Chymosin pseudogene||118943|Psh, REc|||| | ||
1.659|3|14|13|1p13.3|DENND2D|P|DENN/MADD domain-containing protein 2D||615111|REc|||| | ||
1.660|1|9|13|1p13.3|EPS8L3, EPS8R3|P|EPS8-like protein 3||614989|REc|||| | |3(Eps8l3)|
1.661|7|17|09|1p13.3|GPR61|P|G protein-coupled receptor 61||606916|Psh, REc|||| | ||
1.662|9|12|93|1p13.3|GSTM1|C|Glutathione S-transferase M1||138350|A, REa, Fd, Psh, REn|||| | ||
1.663|9|12|93|1p13.3|GSTM2, GST4|C|Glutathione S-transferase M2, muscle||138380|Psh, A, REn|||| | ||
1.664|9|12|93|1p13.3|GSTM3, GST5|P|Glutathione S-transferase M3, brain||138390|Psh, A, REn|||| | ||
1.665|11|4|93|1p13.3|GSTM4|C|Glutathione S-transferase M4||138333|A, REn, Psh|||| | ||
1.666|5|24|13|1p13.3|KIAA1324, EIG121|C|KIAA1324 gene||611298|R, REc|||| | ||
1.667|8|28|09|1p13.3|GSTM5|P|Glutathione S-transferase M5||138385|Psh, A, REn|pseudogene on chr.3||| | ||
1.668|4|20|10|1p13.3|DRAM2, TMEM77|P|Damage-regulated autophagy modulator 2||613360|REc|||| | ||
1.669|8|19|13|1p13.3|MIR197|P|Micro rNA 197||611189|REc|||| | ||
1.670|9|12|08|1p13.3|NTNG1, LMNT1, KIAA0976|P|Netrin G1||608818|R, REc|||| | ||
1.671|3|6|08|1p13.3|PRMT6|P|Protein arginine N-methyltransferase 6||608274|REc|||| | ||
1.672|7|10|93|1p13.2|RAP1A, KREV1|C|RAS-related protein RAP1A||179520|A|pseudogene on 14q24.3||| | ||
1.673|5|24|13|1p13.3|SLC6A17, NTT4|P|Solute carrier family 6 (neurotransmitter transporter), member 17||610299|REc|||| | ||
1.674|1|31|11|1p13.3|SORT1, NT3, LDLCQ6|P|Sortilin||602458|A, REc|||[Low density lipoprotein cholesterol level QTL6], 613589 (3)| | ||
1.675|9|10|07|1p13.3|UBL4B|P|Ubiquitin-like 4B||611127|REc, H|||| | |3(Ubl4b)|
1.676|12|4|09|1p13.3|VAV3|P|Vav3 oncogene||605541|REc|||| | ||
1.677|10|15|13|1p13.2|KCND3, KCND3S, KCND3L, SCA19, SCA22|C|Potassium voltage-gated channel, Shal-related subfamily, member 3||605411|A, R, Fd|||Spinocerebellar ataxia 19, 607346 (3)| | ||
1.678|12|28|08|1p13.2|DCLRE1B, SNM1B, APOLLO|P|DNA cross-link repair protein 1B||609683|REc|||| | ||
1.679|5|4|00|1p12|WARS2|P|Tryptophanyl-tRNA synthetase 2||604733|R|||| | ||
1.680|4|15|08|1p13.1|CASQ2|P|Calsequestrin, fast-twitch, skeletal muscle-2||114251|A|||Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)| | ||
1.681|4|27|12|1p13.2|AP4B1, SPG47, CPSQ5|P|Adaptor-related protein complex 4, beta-1 subunit||607245|R, REc|||Spastic paraplegia 47, autosomal recessive, 614066 (3)| | ||
1.682|9|21|11|1p13.2|C1orf88, PIFO|P|Chromosome 1 open reading frame 88|(pitchfork, mouse, homolog of)|614234|REc|||| | ||
1.683|7|17|09|1p13.2|CAPZA1, CAPPA1|P|Capping protein, muscle Z-line, alpha-1||601580|REc|||| | |3(Capza1)|
1.684|3|14|13|1p13.2|CTTNBP2NL|P|CTTNBP2 N terminus-like protein||615100|REc|||| | ||
1.685|3|15|04|1p13.3|HBXIP|P|Hepatitis B virus X protein-interacting protein||608521|R, REc|||| | ||
1.686|1|31|07|1p13.2|MOV10, KIAA1631|P|Moloney leukemia virus 10, mouse, homolog of||610742|R, REc|||| | ||
1.687|2|19|13|1p13.2|NRAS, ALPS4, NS6|C|Neuroblastoma RAS viral (v-ras) oncogene homolog||164790|REa, A|cen-CD2-NGFB-NRAS||Autoimmune lymphoproliferative syndrome type IV, 614470 (3);|Noonan syndrome 6, 613224 (3); Epidermal nevus, somatic, 162900 (3); Thyroid carcinoma, follicular, somatic, 188470 (3);|Colorectal cancer, somatic, 114500 (3) |3(Nras)|
1.688|5|25|13|1p13.2|OVGP1|P|Oviductal glycoprotein 1||603578|REc|||| | ||
1.689|3|22|06|1p13.2|PPM1J, PP2CZ, PPP2CZ|P|Protein phosphatase, magnesium-dependent, 1J||609957|REc|||| | ||
1.690|8|3|12|1p13.2|RHOC, ARHC, ARH9, RHOH9|P|RAS homolog gene family, member C (oncogene RHO H9)||165380|REa, A|incorrectly assigned to chr.5||| | ||
1.691|12|18|07|1p13.2|SIKE|P|Suppressor of IKK-epsilon||611656|REc|||| | ||
1.692|7|27|09|1p13.2|SYT6|P|Synaptotagmin 6||607718|R, REc|||| | ||
1.693|12|2|09|1p13.2|TSPAN2, NET3|P|Tetraspanin 2||613133|REc|||| | ||
1.694|1|17|08|1p13.2|WDR77, MEP50|P|WD repeat-containing protein 77||611734|R, REc|||| | ||
1.695|11|15|08|1p13.2|SLC16A1, MCT1, HHF7|P|Solute carrier family 16 (monocarboxylic acid transporters),|member 1|600682|Psh, A|||Erythrocyte lactate transporter defect, 245340 (3); Hyperinsulinemic|hypoglycemia, familial, 7, 610021 (3) | ||
1.696|11|20|95|1p13.1|CD2|C|CD2 antigen (p50), sheep red blood cell receptor||186990|REa, A, RE|||| | |3(Ly37)|
1.697|7|13|12|1p13.3|GPSM2, LGN, PINS, DFNB82, CMCS|P|G protein signaling modulator 2||609245|REc|||Chudley-McCullough syndrome, 604213 (3)| | ||
1.698|4|30|93|1p12|HSD3B1|C|Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid|delta-isomerase, type 1 (placental, peripheral)|109715|Fd, A|||| | |3(Hsd3b1)|
1.699|4|15|11|1p12|HSD3B2|C|Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid|delta-isomerase, type 2 (adrenal, gonadal)|613890|A|||3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)| | |3(Hsd3b2)|Lachance (1991); Rheaume (1992)
1.700|4|15|98|1p13.3|KCNA10|P|Potassium voltage-gated channel, shaker-related subfamily, member 10||602420|A|||| | ||
1.701|8|19|13|1p13.2|OLFML3, OLF44|P|Olfactomedin-like 3||610088|REc|||| | ||
1.702|5|27|05|1p13.2|NGFB, HSAN5|C|Nerve growth factor, beta||162030|REa, H, A, Fd, RE|same 310kb fragment as TSHB;|order: cen-CD2-CD58-ATP1A1-NGF-TSHB-NRAS-tel|Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)| | |3(Ngfb)|
1.703|12|2|09|1p13.3|PSRC1, DDA3|P|Proline/serine-rich coiled-coil protein 1||613126|REc, H|||| | |3(Psrc1)|
1.704|3|6|08|1p13.1|SLC22A15, FLIPT1|P|Solute carrier family 22 (organic cation transporter), member 15||608275|REc|||| | ||
1.705|10|2|12|1p13.1|TTF2|P|Transcription termination factor, RNA polymerase II||604718|REc|||| | ||
1.706|3|29|06|1p13.1|VCTN1, B7H4, B7X, B7S1|P|V-set domain containing T cell activation inhibitor 1||608162|REc, H|||| | |3(B7h4)|
1.707|3|20|06|1p34.2|PPCS|P|Phosphopantothenoylcysteine synthetase||609853|REc|||| | ||
1.708|3|20|06|1p12|REG4|P|Regenerating islet-derived family, member 4||609846|REc|||| | ||
1.709|6|30|98|1p13.1|PTGFRN, FPRP|P|Prostaglandin F2 receptor negative regulator||601204|Psh, REc|||| | ||
1.710|10|12|90|1p13.1|CD58, LFA3|C|CD58 antigen (lymphocyte function-associated antigen 3)||153420|S, REa, A, RE|?same as MSK1; gene cloned||| | ||
1.711|6|4|12|1p13.3|GNAI3, ARCND1|C|Guanine nucleotide-binding protein (G-protein), alpha-inhibiting|activity polypeptide-3|139370|REa, A, Fd|||Auriculocondylar syndrome 1, 602483 (3)| | |3(Gnai3)|
1.712|4|6|11|1p13.3|GNAT2, ACHM4|C|Guanine nucleotide-binding protein (G-protein), alpha-transducing|(transducin) activity polypeptide-2|139340|REa, A|||Achromatopsia-4, 613856 (3)| | |3(Gnat2)|
1.713|7|17|09|1p12|HAO2, HAOX2|P|Hydroxyacid oxidase 2||605176|REc|||| | ||
1.714|6|18|99|1p13.1|IGSF3|P|Immunoglobulin superfamily, member 3||603491|A, RE|||| | ||
1.715|3|15|13|1p13.2|LRIG2, LIG2, KIAA0806, UFS2|C|Leucine-rich repeats- and immunoglobulin-like domains-containing|protein 2|608869|A, H|||Urofacial syndrome 2, 615112 (3)| | |3(Lrig2)|
1.716|2|2|01|1p12|MAN1A2|P|Mannosidase, alpha, class 1A, member 2||604345|A|||| | |3(Man1a2)|
1.717|9|10|98|1p13.3|PSMA5, PSC5|P|Proteasome component 5||176844|REc|||| | ||
1.718|5|25|00|1p13.2|PHTF1|P|Putative homeodomain transcription factor 1||604950|A|||| | ||
1.719|3|27|09|1p13.2|PTPN22, PEP, PTPN8, LYP|P|Protein tyrosine phosphatase, nonreceptor-type 22||600716|A|||{Diabetes, type 1, susceptibility to}, 222100 (3); {Rheumatoid|arthritis, susceptibility to}, 180300 (3); {Systemic lupus erythematosus susceptibility to}, 152700 (3)| ||
1.720|6|28|01|1p13.3|RBM15, SPEN, OTT|P|One-twenty two protein (RNA binding motif protein 15; Spen,|Drosophila, homolog of)|606077|Ch|||Megakaryoblastic leukemia, acute (2)| | ||
1.721|7|27|09|1p13.3|SARS, SERS|P|Seryl-tRNA synthetase||607529|R, REc|||| | ||
1.722|6|9|98|1p13.2|SYCP1, SCP1|P|Synaptonemal complex protein-1||602162|A|||| | ||
1.723|12|24|08|1p12|TBX15|P|T-box 15||604127|A|||Cousin syndrome, 260660 (3)| | |3(Tbx15)|
1.724|4|23|08|1p13.2|TRIM33, TIF1G, RFG7, PTC7|P|Tripartite motif-containing protein 33||605769|A|fused with RET to form PTC7||Thyroid carcinoma, papillary, 188550 (3)| | ||
1.725|9|4|08|1p13.2|TSHB, CHNG4|C|Thyroid-stimulating hormone, beta polypeptide||188540|REa, RE, Fd|centromeric to NGFB||Hypothryoidism, congenital, nongoitrous 4, 275100 (3)| | |3(Tshb)|
1.726|5|10|07|1p13.1|VANGL1, STBM2|P|Vang-like 1||610132|REc|||Caudal regression syndrome, 600145 (3); Neural tube defects, 182940|(3) | ||
1.727|5|23|00|1p13|VUR|P|Vesicoureteral reflux||193000|Fd|||Vesicoureteral reflux (2)| | ||
1.728|3|2|98|1p13.2|WNT13, XWNT2|P|Wingless-type MMTV integration site family, member 13||601968|A|||| | ||
1.729|5|9|01|1p12|HMGCS2|C|3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2, mitochondrial||600234|A|||HMG-CoA synthase-2 deficiency, 605911 (3)| | ||
1.730|5|4|00|1p12|WDR3|P|WD repeat-containing protein 3||604737|A|||| | ||
1.731|1|29|01|1p12|ADAM30|P|A disintegrin and metalloproteinase domain 30||604779|R|||| | ||
1.732|4|12|92|1p13.1|ATP1A1|C|ATPase, Na+K+ transporting, alpha-1 polypeptide||182310|REa, REb, A, Fd|||| | |3(Atp1a1)|
1.733|5|16|11|1p12-p11|NOTCH2, AGS2, HJCYS|P|Notch, Drosophila, homolog  of, 2||600275|REa, A|||Alagille syndrome 2, 610205 (3); Hajdu-Cheney syndrome, 102500 (3)| | |3(Notch2)|
1.734|3|10|03|1q21.3|PMVK, PMK|P|Phosphomevalonate kinase||607622|Psh|||| | ||
1.735|6|11|11|1p12|FAM46C|P|Family with sequence similarity 46, member C||613952|REc|||| | ||
1.736|1|6|97|1p11.2|FCGR1B|P|Fc fragment of IgG, high affinity Ib, receptor for (CD64)||601502|REa, A|||| | ||
1.737|8|2|13|1p13.3|LRIF1, RIF1|P|Ligand-dependent nuclear receptor-interacting factor 1||615354|REc|||| | ||
1.738|9|21|11|1p13.3|NBPF4|P|Neuroblastoma breakpoint family, member 4||613994|REc, A|||| | ||
1.739|9|21|11|1p13.3|NBPF5|P|Neuroblastoma breakpoint family, member 5||613995|REc, A|||| | ||
1.740|9|21|11|1p13.3|NBPF6|P|Neuroblastoma breakpoint family, member 6||613996|REc, A|||| | ||
1.741|9|21|11|1p12|NBPF7|P|Neuroblastoma breakpoint family, member 7||613997|REc, A|||| | ||
1.742|7|18|12|1p11.2|SRGAP2C|P|SLIT-ROBO Rho GTPase-activating protein 2C||614704|REc|||| | ||
1.743|3|6|98|1p21.2|EXTL2|P|Exostosin-like 2||602411|A|||| | |3(Extl2)|
1.744|1|9|95|1p13.1|NHLH2, HEN2|P|Nescient helix loop helix 2||162361|REa, A|||| | |3(Nscl2)|
1.745|7|18|12|1p11.2|FAM72B|P|Family with sequence similarity 72, member B||614711|REc|||| | ||
1.746|10|15|02|1p11|MNRI|P|Meningioma, radiation-induced||606190|Ch|||Meningioma, radiation-induced (2)| | ||
1.747|5|4|12|1p|ANON1|P|Anorexia nervosa, susceptibility to, 1||606788|Fd|||{Anorexia nervosa, susceptibility to, 1} (2)| | ||
1.748|5|26|98|1p|CSE, DYT9|P|Choreoathetosis/spasticity, episodic (paroxysmal|choreoathetosis/spasticity)|601042|Fd|||Choreoathetosis/spasticity, episodic (2)| | ||
1.749|2|5|01|1p|PSORS7|P|Psoriasis susceptibility 7||605606|Fd|||{Psoriasis susceptibility 7} (2)| | ||
1.750|1|2|91|1q44|ADSS|P|Adenylosuccinate synthetase (Ade(-)H-complementing)||103060|S|||| | |13(Nid)|
1.751|11|14|91|1q23.3|HSPA6|P|Heat-shock 70kD protein-6 (HSP70B')||140555|REa|||| | ||
1.752|11|14|91|1q23.3|HSPA7|P|Heat-shock 70kD protein-7 (HSP70B)||140556|REa|||| | ||
1.753|8|28|97|1q|LRE2|P|LINE retrotransposable element-2||151628|REa|inserted in DMD gene||| | ||
1.754|5|9|95|1q32.1|SYT2|L|Synaptotagmin-2||600104|H|?near REN||| | |1(Syt2)|
1.755|4|29|02|1p12|PHGDH|P|Phosphoglycerate dehydrogenase||606879|A, R|||Phosphoglycerate dehydrogenase deficiency, 601815 (3)| | ||
1.756|4|19|12|1q21.1|RBM8A, RBM8B, TAR, C1DELq21.1, DEL1q21.1|P|RNA-binding motif protein 8A||605313|Psh, R|pseudogene on chr.14||Thrombocytopenia-absent radius syndrome, 274000 (3)| | ||
1.757|4|17|01|1q21.3|TMOD4|P|Tropomodulin 4, muscle||605834|R|||| | |3(Tmod4)|
1.758|8|24|09|1q22|DPM3, CDG1O|P|Dolichyl-phosphate mannosyltransferase 3||605951|REc|||Congenital disorder of glycosylation, type Io, 612937 (3)| | ||
1.759|7|20|09|1q12-q21.3|GNRHR2|P|Gonadotropin-releasing hormone receptor 2||612875|REc|?processed pseudogene||| | ||
1.760|6|3|94|1q21.3|S100A9, CAGB, CFAG|P|S100 calcium-binding protein A9 (calgranulin B)||123886|REa|||| | |3(Cagb)|
1.761|9|13|89|1q12-q22|TRNL|P|tRNA asparagine-like||189890|REa, RE|||| | ||
1.762|9|12|93|1q24.2|DPT|P|Dermatopontin||125597|REa|||| | ||
1.763|11|9|95|1q22|MEF2D|P|MADS box transcription enhancer factor 2, polypeptide D (myocyte|enhancer factor 2D)|600663|REc|||| | |3(Mef2d)|
1.764|1|16|01|1q12-q24|CORD8|P|Cone-rod dystrophy 8||605549|Fd|||Cone-rod dystrophy 8 (2)| | ||
1.765|7|16|09|1q23.3|DDR2, NTRKR3, TKT|P|Neurotrophic tyrosine kinase, receptor-related 3||191311|Psh|||Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)| | ||
1.766|8|30|07|1q21|AD13|P|Alzheimer disease-13||611152|Fd|max lod D1S498||{Alzheimer disease-13} (2)| | ||
1.767|9|12|13|1q21.3|ADAMTSL4, TSRC1, ECTOL2|P|ADAMTS-like 4||610113|REc, H|||Ectopia lentis, isolated, autosomal recessive, 225100 (3);|Ectopia lentis et pupillae, 225200 (3) | |3(Adamtsl4)|
1.768|6|18|99|1q21.3|ANXA9, ANX31|P|Annexin A9 (annexin XXXI)||603319|A|||| | ||
1.769|9|7|00|1q21.3|ARNT|C|Aryl hydrocarbon receptor nuclear translocator||126110|REa, Fd, A|||Leukemia, acute myeloblastic (3)| | |3(Arnt)|
1.770|5|26|98|1q21.2|BCL9|P|B-cell CLL/lymphoma-9||602597|A, Ch|||| | ||
1.771|5|11|00|1q21.2|CA14|P|Carbonic anhydrase XIV||604832|A|||| | ||
1.772|9|12|93|1q23.2|CASQ1|C|Calsequestrin, fast-twitch, skeletal muscle-1||114250|REa, A|||| | ||
1.773|8|2|13|1q21.3|CELF3, TNRC4, BRUNOL1|P|CUGbp- and ELAV-like family, member 3||612678|REc|||| | ||
1.774|9|28|09|1q21.1|CHD1L, ALC1|P|Chromodomain helicase DNA-binding protein 1-like||613039|A|||| | ||
1.775|9|9|02|1q21.3|CHRNB2, EFNL3|C|Cholinergic receptor, nicotinic, beta polypeptide-2||118507|REa, H, A|linked to AMY in mouse||Epilepsy, nocturnal frontal lobe, 3, 605375 (3)| | |3(Acrb2)|
1.776|11|28|01|1q21.3|CTMP|P|C-terminal modulator protein||606388|REc|||| | ||
1.777|9|2|96|1q21.3|CTSK|P|Cathepsin K||601105|REn, Fd|||Pycnodysostosis, 265800 (3)| | ||
1.778|6|3|94|1q21.3|CTSS|P|Cathepsin S||116845|A|||| | |3(Ctss)|
1.779|6|9|98|1q22|DAP3|P|Death associated protein 3||602074|A|||| | ||
1.780|3|25|13|1q21.3|ECM1, URBWD|C|Extracellular matrix protein-1||602201|REc, A|||Urbach-Wiethe disease, 247100 (3)| | ||
1.781|1|6|97|1q21.2|FCGR1C|P|Fc fragment of IgG, high affinity Ic, receptor for (CD64)||601503|REa, A|||| | ||
1.782|4|18|08|1q21.3|FLG, ATOD2|C|Filaggrin||135940|REa, A, REn, Fd|||Ichthyosis vulgaris, 146700 (3); {Dermatitis, atopic, susceptibility|to, 2}, 605803 (3) | |3(flg)|
1.783|2|17|12|1q22|GBA|C|Glucosidase, acid beta||606463|S, A, D, Fd|pseudogene GBAP ~16kb 3' to GBA||Gaucher disease, type I, 230800(3); Gaucher disease, type II, 230900|(3); Gaucher disease, type III, 231000 (3); Gaucher disease, type IIIC, 231005 (3); Gaucher disease, perinatal lethal, 608013 (3); {Parkinson disease,|late-onset, susceptibility to}, 168600 (3); {Lewy body dementia, susceptibility to}, 127750 (3)|3(Gba)|
1.784|8|28|97|1q22|GENEY|P|Gene Y||600986|REn|||| | |3(GeneY)|
1.785|12|11|07|1q23.1|HDGF|P|Hepatoma-derived growth factor||600339|Psh, A, REc|previously assigned to Chr.X||| | ||
1.786|3|11|03|1q21.2|HIST2H2AA, H2AFO, H2A|P|Histone 2, H2aa||142720|A|||| | ||
1.787|1|14|13|1q21.2|HIST2H2AB, H2AB|P|Histone gene cluster 2, H2A histone family, member B||615014|REc|||| | ||
1.788|3|12|03|1q21.2|HIST2H3C, H3F2|P|Histone 2, H3c||142780|REa, A|||| | ||
1.789|9|13|89|1q21.2|H4FN, H4F2|P|H4 histone, family 2||142750|REa, A|100-200 histone genes; some on chromosome 6 and 12, as well as|perhaps 7|| | ||
1.790|1|15|04|1q21.1|HJV, HFE2A|C|Hemojuvelin||608374|Fd, REc|between D1S442 and D1S2347||Hemochromatosis, type 2A, 602390 (3)| | ||
1.791|4|30|01|1q23.1|IRTA1|P|Immunoglobulin superfamily receptor translocation-associated gene 1||605876|REc|fused with IGHA1 in multiple myeloma||| | ||
1.792|4|30|01|1q23.1|IRTA2|P|Immunoglobulin superfamily receptor translocation-associated gene 2||605877|REc|||| | ||
1.793|11|4|93|1q21.3|IVL|C|Involucrin||147360|REa, A, REn|||| | ||
1.794|3|10|00|1q21.3|JTB, PAR|P|Jumping translocation breakpoint||604671|Ch|||| | ||
1.795|3|4|10|1q21.3|KPRP|P|Keratinocyte proline-rich protein||613260|REc|||| | ||
1.796|2|17|09|1q21.3|LCE1A, LEP1|P|Late cornified envelope protein 1A||612603|REc, H|||| | |3(Lce1a)|
1.797|2|17|09|1q21.3|LCE1B, LEP2|P|Late cornified envelope protein 1B||612604|REc, H|||| | |3(Lce1b)|
1.798|2|17|09|1q21.3|LCE1C, LEP3|P|Late cornified envelope 1C||612605|REc, H|||| | |3(Lce1c)|
1.799|2|17|09|1q21.3|LCE1D, LEP4|P|Late cornified envelope protein 1D||612606|REc, H|||| | |3(Lce1d)|
1.800|2|17|09|1q21.3|LCE1E|P|Late cornified envelope protein 1E||612607|REc, H|||| | |3(Lce1e)|
1.801|2|17|09|1q21.3|LCE1F, LEP6|P|Late cornified envelope protein 1F||612608|REc, H|||| | |3(Lce1f)|
1.802|2|18|09|1q21.3|LCE2A, LEP9|P|Late cornified envelope protein 2A||612609|REc, H|||| | |3(Lce2a)|
1.803|2|18|09|1q21.3|LCE2B, LEP10, XP5|P|Late cornified envelope protein 2B||612610|REc, H|||| | |3(Lce2b)|
1.804|2|18|09|1q21.3|LCE2C, LEP11|P|Late cornified envelope protein 2C||612611|REc, H|||| | |3(Lce2c)|
1.805|2|18|09|1q21.3|LCE2D, LEP12|P|Late cornified envelope protein 2D||612612|REc, H|||| | |3(Lce2d)|
1.806|2|23|09|1q21.3|LCE3A, LEP13|P|Late cornified envelope protein 3A||612613|REc, H|||| | |3(Lce3a)|
1.807|2|23|09|1q21.3|LCE3B, LEP14|P|Late cornified envelope protein 3B||612614|REc, H|||| | |3(Lce3b)|
1.808|2|23|09|1q21.3|LCE3C, LEP15|P|Late cornified envelope protein 3C||612615|REc, H|||| | |3(Lce3c)|
1.809|2|23|09|1q21.3|LCE3D, LEP16|P|Late cornified envelope protein 3D||612616|REc, H|within intron 2 of LCE3C||| | |3(Lce3d)|
1.810|2|23|09|1q21.3|LCE3E, LEP17|P|Late cornified envelope protein 3E||612617|REc, H|||| | |3(Lce3e)|
1.811|2|23|09|1q21.3|LCE4A, LEP8|P|Late cornified envelope protein 4A||612618|REc, H|||| | |3(Lce4a)|
1.812|2|23|09|1q21.3|LCE5A, LEP18|P|Late cornified envelope protein 5A||612619|REc, H|||| | |3(Lce5a)|
1.813|8|20|07|1q21.3|LELP1|P|Late cornified envelope-like proline-rich 1||611042|REc|||| | ||
1.814|10|7|10|1q21.3|LOR|C|Loricrin||152445|REa, A, REn|||Vohwinkel syndrome with ichthyosis, 604117 (3)| | |3(lor)|
1.815|7|4|95|1q21.3|MCL1|P|Myeloid cell leukemia sequence 1 (BCL2-related)||159552|REa, A|||| | |3(Mcl1)|
1.816|7|20|09|1q21.3|MLLT11, AF1Q|P|Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 11||604684|Ch|||Leukemia, acute myelomonocytic (3)| | ||
1.817|2|26|08|1q21.3|MRPL9|P|Mitochondrial ribosomal protein L9||611824|R|||| | ||
1.818|4|24|08|1q21.2|MRPS21|P|Mitochondrial ribosomal protein S21||611984|R, REc|9 pseudogenes||| | ||
1.819|8|3|99|1q22|MTX1, MTXN|P|Metaxin 1||600605|H, REn|between GBA and TSP3||| | |3(Mtxn)|
1.820|7|12|13|1q22|MUC1, PUM, MCKD1|C|Mucin 1, transmembrane||158340|REa, A, Fd|5cM proximal to SPTA1||Medullary cystic kidney disease 1, 174000 (3)| | |3(Muc1)|
1.821|12|13|00|1q21.1|PDZK1|P|PDZ domain-containing 1||603831|Psh, R|||| | ||
1.822|10|29|03|1q21.3|PGRPIA|P|Peptidoglycan recognition protein, intermediate, alpha||608197|REc|||| | ||
1.823|10|29|03|1q21.3|PGRPIB|P|Peptidoglycan recognition protein, intermediate, beta||608198|REc|||| | ||
1.824|7|2|01|1q21.1|PIAS3|P|Protein inhibitor of activated STAT3||605987|Psh, R|||| | ||
1.825|1|14|09|1q22|PKLR, PK1|C|Pyruvate kinase, liver and RBC type||609712|REa, A, REn|||Pyruvate kinase deficiency, 266200 (3); Adenosine triphosphate,|elevated, of erythrocytes, 102900 (3) | |3(Pk1)|
1.826|10|21|96|1q23.1|PRCC, RCCP1|C|Papillary renal cell carcinoma, translocation-associated||179755|Ch|t(X;1)(p11;q21); fuses with TFE3 in RCCP||Renal cell carcinoma, papillary, 605074 (3)| | ||
1.827|2|20|98|1q21.3|PSMB4|P|Proteasome subunit, beta type, 4||602177|A|||| | ||
1.828|4|16|03|1q21|PSORS4|C|Psoriasis susceptibility 4||603935|Fd|||{Psoriasis susceptibility 4} (2)| | ||
1.829|2|14|01|1q21|PTCPRN, PRN1|P|Papillary thyroid carcinoma with papillary renal neoplasia||605642|Fd|||Thyroid carcinoma, papillary, with papillary renal neoplasia (2)| | ||
1.830|10|17|00|1q21|RFH1, AORF|P|Renal failure, progressive, with hypertension||161900|Fd|||Nephropathy-hypertension (2)| | ||
1.831|11|20|98|1q21.3|RORC, RORG, RZRG|P|RAR-related orphan receptor C||602943|Psh, A|||| | |3(Rorc)|
1.832|7|27|09|1q21.3|RPS27, MPS1|P|Ribosomal protein S27||603702|R, RE, REc|||| | ||
1.833|11|17|94|1q21.3|S100A1|C|S100 protein, alpha polypeptide||176940|REb, A, REn|||| | ||
1.834|3|4|10|1q21.3|RPTN|P|Repetin||613259|REc, A, H|||| | |3(Rptn)|
1.835|11|17|94|1q21.3|S100A2, S100L|P|S100 calcium-binding protein A2||176993|REn|||| | ||
1.836|11|17|94|1q21.3|S100A3, S100E|P|S100 calcium-binding protein A3||176992|REn|||| | ||
1.837|11|17|94|1q21.3|S100A4, CAPL|P|S100 calcium-binding protein A4 (calcium protein, calvasculin,|metastasin, murine placental homolog)|114210|REa, H, REn|||| | |3(Capl)|
1.838|11|17|94|1q21.3|S100A5, S100D|P|S100 calcium-binding protein A5||176991|REn, A|||| | ||
1.839|11|17|94|1q21.3|S100A6, CACY|C|S100 calcium-binding protein A6 (calcyclin)||114110|A, REn|||| | |3(Cacy)|
1.840|2|9|95|1q21.3|S100A7|C|S100 calcium-binding protein A7||600353|REc, A, Fd|||| | ||
1.841|11|26|02|1q21.3|S100A8, CAGA, CFAG|C|S100 calcium-binding protein A8 (calgranulin A)||123885|S, REa|over-expressed in 1q21-linked psoriasis||| | |3(Caga)|
1.842|7|11|94|1q21.3|S100A10, CAL1L|C|S100 calcium-binding protein A10 (annexin II ligand, calpactin I,|light polypeptide (p11))|114085|H, REn|on chr.3 in mouse||| | ||
1.843|10|14|98|1q21.3|S100A11|P|S100 calcium-binding protein A11||603114|A|||| | ||
1.844|10|14|98|1q21.3|S100A12, CAAF1, CGRP|P|S100 calcium-binding protein A12||603112|REc|between S100A8 and S100A9||| | ||
1.845|3|9|98|1q21.3|S100A13|P|S100 calcium-binding protein A13||601989|REc|||| | ||
1.846|1|11|07|1q21.3|S100A14, BCMP84|P|S100 Calcium-binding protein A14||607986|A, REn|||| | ||
1.847|5|13|02|1q22|SCAMP3, PROPIN1|P|Secretory carrier membrane protein 3||606913|REc|||| | ||
1.848|9|9|11|1q23.3|SDHC, PGL3|C|Succinate dehydrogenase complex, subunit C, integral membrane protein,|15kD|602413|A, S, M|||Paragangliomas 3, 605373 (3); Paraganglioma|and gastric stromal sarcoma, 606864 (3); Gastrointestinal stromal tumor, 606764 (3)| ||
1.849|1|4|00|1q21.3|SETDB1|C|SET domain protein, bifurcated, 1||604396|REa, A, R|||| | ||
1.850|3|10|00|1q23.1|SH2D2A, TSAD|P|SH2 domain protein 2A||604514|Psh, A|||| | ||
1.851|6|16|95|1q21.3|SHC1|C|SHC (Src homology 2 domain-containing) transforming protein-1||600560|REa, A|||| | ||
1.852|10|4|02|1q23.2|SLAMF8, BLAME|P|SLAM family, member 8||606620|R|||| | ||
1.853|2|15|02|1q21.3|SLC39A1, ZIRTL|P|Solute carrier family 39 (zinc transporter), member 3|(zinc/iron-regulated transporter-like)|604740||REc||| | |3(Zirtl)|
1.854|3|23|06|1q21.3|SMCP, MCSP, MCS|P|Sperm mitochondria-associated cysteine-rich protein||601148|A|||| | ||
1.855|3|11|09|1q23.1|SPTA1, EL2, SPH3, HS3, HPP|C|Spectrin, alpha, erythrocytic-1||182860|REa, A, Fd|17cM proximal to FY||Elliptocytosis-2, 130600 (3); Pyropoikilocytosis, 266140 (3);|Spherocytosis, type 3, 270970 (3) | |1(Spna1)|
1.856|7|4|95|1q22|THBS3, TSP3|L|Thrombospondin 3||188062|H|||| | |3(Thbs3)|
1.857|6|16|99|1q21.3|TUFT1|C|Tuftelin 1||600087|A|?mutant in amelogenesis imperfecta||| | ||
1.858|1|7|02|1q21.1|TXNIP, VDUP1|P|Thioredoxin-interacting protein||606599|R, H|||| | |3(Txnip)|
1.859|6|5|08|1q22|UBQLN4, A1U, C1orf6|P|Ubiquitin 4||605440|REc|||| | ||
1.860|2|25|08|1q21.3|VPS72, CFL1, YL1|P|Vacuolar protein sorting 72, yeast, homolog of||600607|RE|||| | ||
1.861|9|22|08|1q22|ARHGEF2, GEFH1, KIAA0651|P|RHO guanine nucleotide exchange factor 2||607560|R, REc|||| | ||
1.862|8|25|04|1q21-q22|ASPG3|P|Asperger syndrome, susceptibility to, 3||608781|Fd|max lod at D1S484||{Asperger syndrome susceptibility 3} (2)| | ||
1.863|5|11|00|1q23.3|DUSP1, YVH1|P|Dual-specificity phosphatase 12||604835|R|||| | ||
1.864|11|5|97|1q22|EFNA1, EPLG1, TNFAIP4|P|eph-related receptor tyrosine kinase ligand 1 (tumor necrosis factor,|alpha-induced protein 4)|191164|A|||| | |3(Epl1)|
1.865|11|5|97|1q22|EFNA3, EPLG3|P|eph-related receptor tyrosine kinase ligand 3 (ephrin A3)||601381|A|||| | |3(Epl3)|
1.866|11|5|97|1q22|EFNA4, EPLG4|P|eph-related receptor tyrosine kinase ligand 4 (ephrin-A4)||601380|A|||| | |3(Epl4)|
1.867|2|28|08|1q23.1|MRPL24|P|Mitochondrial ribosomal protein L24||611836|R|||| | ||
1.868|1|11|07|1q23.3|NIT1|P|Nitrilase 1||604618|REc, R|||| | |1(Nit1)|
1.869|4|18|94|1q21.3|NPR1, ANPRA|P|Natriuretic peptide receptor A/guanylate cyclase A||108960|REa, A|||| | ||
1.870|6|6|00|1q23.1|NTRK1, TRKA, MTC|C|Neurotrophic tyrosine kinase, receptor, type 1||191315|REa, A|TRK = chimera of TPM3 and NTRK1||Insensitivity to pain, congenital, with anhidrosis, 256800 (3);|Medullary thyroid carcinoma, familial, 155240 (3) | ||
1.871|10|20|99|1q21.3|SELENBP1, SP56|P|Selenium-binding protein 1||604188|A|||| | ||
1.872|7|10|93|1q21.3|SPRR1A|P|Small proline-rich protein 1A||182265|REa, A, REn|||| | ||
1.873|7|10|93|1q21.3|SPRR1B|P|Small proline-rich protein 1B||182266|REa, A|||| | ||
1.874|7|10|93|1q21.3|SPRR2A|P|Small proline-rich protein 2A||182267|REa, A, REn|about 7 SPRR2 genes||| | ||
1.875|7|10|93|1q21.3|SPRR2B|P|Small proline-rich protein 2B||182268|REa, A|||| | ||
1.876|7|10|93|1q21-q22|SPRR2C|P|Small proline-rich protein 2C||182269|REa, A|prob. pseudogene||| | ||
1.877|7|10|93|1q21.3|SPRR3|P|Small proline-rich protein 3||182271|REa, A, REn|||| | ||
1.878|5|1|91|1q21-q22|UGP1|C|Uridyl diphosphate glucose pyrophosphorylase-1||191750|S, R|||| | ||
1.879|7|18|13|1q21.2|VPS45A, VPS45, SCN5|P|Vacuolar protein sorting 45, yeast, homolog of, A||610035|A|||Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)| | ||
1.880|1|11|07|1q23.3|ADAMTS4|C|A disintegrin-like and metalloproteinase with thrombospondin type|1 motif, 4 (aggrecanase 1)|603876|R, REc|||| | ||
1.881|4|30|91|1q23.2|APCS, SAP|C|Amyloid P component, serum||104770|REa, A, Fd|probably close to CRP||{?Amyloidosis, secondary, susceptibility to} (1)| | |1(Sap)|
1.882|2|20|03|1q23.3|APOA2|C|Apolipoprotein A-II||107670|REa, A, Fd, RE|||Apolipoprotein A-II deficiency (3); {Hypercholesterolemia, familial,|modification of}, 143890 (3) | |1(Apoa2)|
1.883|5|2|06|1q23.2|ATP1A2, FHM2, MHP2|C|ATPase, Na+K+ transporting, alpha-2 polypeptide||182340|REa, A, Fd, RE|||Migraine, familial hemiplegic, 2, 602481 (3); Alternating|hemiplegia of childhood, 104290 (3); Migraine, familial basilar, 602481 (3) | |1(Atpa3)|
1.884|1|17|03|1q21-q23|BMND2|C|Bone mineral density QTL 2||605833|Fd|||[Bone mineral density QTL 2] (2)| | ||
1.885|3|21|93|1q23.1|CD1A|C|Thymocyte antigen CD1A||188370|A, REa, REn|genes A, B, C, D in cluster||| | |3(Ly38)|
1.886|3|21|93|1q23.1|CD1B|C|Thymocyte antigen CD1B||188360|A, REa, REn|||| | ||
1.887|3|21|93|1q23.1|CD1C|C|Thymocyte antigen CD1C||188340|A, REa, REn|||| | ||
1.888|3|21|93|1q23.1|CD1D|C|Thymocyte antigen CD1D||188410|A, REa, H, REn|||| | |3(Cd1d)|
1.889|10|9|94|1q23.1|CD1E|C|Thymocyte antigen CD1E||188411|A, REa, REn|||| | ||
1.890|7|2|98|1q23.1|CD5L|P|CD5 antigen-like (scavenger receptor cysteine rich family)||602592|R, A|||| | ||
1.891|5|1|91|1q23.2|CRP|C|C-reactive protein||123260|REa, A|||| | |1(Crp)|
1.892|9|22|96|1q21-q23|DFNA7|P|Deafness, autosomal dominant 7||601412|Fd|||Deafness, autosomal dominant 7 (2)| | ||
1.893|1|27|04|1q21-q23|DFNA49|P|Deafness, autosomal dominant 49||608372|Fd|max lod at D1S3784 and D1S3786||Deafness, autosomal dominant 49 (2)| | ||
1.894|9|8|11|1q21-q23|ERVK-7, HERV-KIII, HERV-K102|P|Endogenous retrovirus group K, member 7||614013|R, REc|||| | ||
1.895|12|5|95|1q23.1|ETV3, PE1|P|ets variant gene 3||164873|REa, A|||| | ||
1.896|9|9|13|1q23.3|FCGR2A, IGFR2, CD32|C|Fc fragment of IgG, low affinity IIa, receptor for (CD32)||146790|REb, REn, Fd, RE|FCG2 and FCG3 within 250kb||{Lupus nephritis, susceptibility to} (3); {Malaria, severe,|susceptibility to}, 611162 (3); {Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)| |1(Ly17, Cd32)|
1.897|11|9|95|1q23.2|GIRK3|P|G protein-coupled inward rectifier potassium channel||600932|A|||| | ||
1.898|3|11|03|1q21.2|HIST2H2BE, H2B|P|Histone 2, H2be||601831|REa, A|||| | ||
1.899|3|11|03|1q21.2|HIST2H2AC, H2AFQ|P|Histone 2, H2ac||602797|REc|||| | ||
1.900|10|24|00|1q23.1|INSRR, IRR|C|Insulin receptor-related receptor||147671|REa, R|||| | ||
1.901|3|23|09|1q23.1|PYHIN1, IFIX|P|Pyrin and Hin domain family, member 1||612677|REc|||| | ||
1.902|12|21|09|1q21-q23|SLEB14|P|Systemic lupus erythematosus, susceptibility to, 14||613145|Fd|associated with rs3093061||{Systemic lupus erythematosus, susceptibility to, 14} (2)| | ||
1.903|12|5|95|1q22|SSR2|P|Signal sequence receptor, beta||600867|A|||| | ||
1.904|6|28|01|1q23.2|VANGL2, LTAP|P|Vang-like 2 (loop-tail, mouse, homolog of)||600533|REc, H|||| | |1(Lp)|
1.905|5|4|00|1q23.2|TAGLN2|P|Transgelin 2||604634|REc, H|||| | |1(Tagln2)|
1.906|2|28|03|1q23.2|ATP1A4, ATP1AL2|P|ATPase, Na+/K+ transporting, alpha-4 polypeptide||607321|REc|||| | |1(Atp1a4)|
1.907|3|15|11|1q21.1|C1orf152, COAS3|P|Chromosome 1 open reading frame 152||608609|REc|||| | ||
1.908|12|17|08|1q21.1|DEL1q21, C1DELq21|P|Chromosome 1q21.1 deletion syndrome||612474|Ch|contiguous gene deletion syndrome||Chromosome 1q21.1 deletion syndrome (4)| | ||
1.909|12|17|08|1q21.1|DUP1q21, C1DUPq21|P|Chromosome 1q21.1 duplication syndrome||612475|Ch|contiguous gene duplication syndrome||Chromosome 1q21.1 duplication syndrome (4)| | ||
1.910|3|9|00|1q21.1|FMO5|C|Flavin-containing monooxygenase 5||603957|Psh, REc, A|||| | ||
1.911|5|3|13|1q21.2|GJA8, CX50, CTRCT1, CZP1, CAE1|C|Gap junction membrane channel protein alpha-8 (connexin 50)||600897|A, F|||Cataract 1, multiple types, 116200 (3)| | |3(Gja8)|
1.912|7|16|09|1q21.1|GPR89A|P|G protein-coupled receptor 89A||612821|REc|||| | ||
1.913|7|16|09|1q21.2|GPR89B, GPHR|P|G protein-coupled receptor 89B||612806|REc|||| | ||
1.914|3|12|07|1q21.1|HYDIN2, KIAA1864|P|Hydin, mouse, homolog of, 2||610813|R, REc|duplicated copy 16q22.2||| | ||
1.915|5|25|13|1q21.1|ITGA10|P|Integrin, alpha-10||604042|REc|||| | ||
1.916|9|22|09|1q21.1|NBLST6|P|Neuroblastoma, susceptibility to, 6||613017|Ch|?contiguous gene deletion or duplication disease||{Neuroblastoma, susceptibility to, 6} (2)| | ||
1.917|9|21|11|1q21.1|NBPF10|P|Neuroblastoma breakpoint family, member 10||614000|REc|||| | ||
1.918|9|21|11|1q21.1|NBPF11|P|Neuroblastoma breakpoint family, member 11||614001|REc, A|||| | ||
1.919|9|21|11|1q21.1|NBPF12, COAS1, KIAA1245|P|Neuroblastoma breakpoint family, member 12||608607|REc, A|||| | ||
1.920|9|21|11|1q21.1|NBPF8|P|Neuroblastoma breakpoint family, member 8||613998|REc, A|||| | ||
1.921|9|21|11|1q21.1|NBPF9|P|Neuroblastoma breakpoint family, member 9||613999|REc, A|||| | ||
1.922|9|21|11|1q21.2|NBPF14|P|Neuroblastoma breakpoint, member 14||614003|REc, A|||| | ||
1.923|2|5|07|1q21.2|NBPF15, MGC8902|P|Neuroblastoma breakpoint family, member 15||610414|REc, A|contains 6 copies of DUF1220 domain||| | ||
1.924|9|21|11|1q21.2|NBPF16|P|Neuroblastoma breakpoint family, member 16||614005|REc, A|||| | ||
1.925|9|21|11|1q21.1|NBPF19|P|Neuroblastoma breakpoint family, member 19||614006|REc|||| | ||
1.926|9|21|11|1q21.1|NBPF20|P|Neuroblastoma breakpoint family, member 20||614007|REc|||| | ||
1.927|9|10|09|1q21.2|NBPF23|P|Neuroblastoma breakpoint family, member 23||612970|REc|||| | ||
1.928|1|20|99|1q23.2|PEA15, HMAT1, PED|C|Phosphoprotein enriched in astrocytes, 15kD||603434|R, A|||| | ||
1.929|12|12|12|1q21.1|PEX11B, PEX14B|P|Peroxisome biogenesis 11B||603867|REc|||Peroxisome biogenesis disorder 14B, 614920 (3)| | ||
1.930|3|15|11|1q21.1|PDE4DIP, MMGL, KIAA0454, KIAA0477|C|Phosphodiesterase 4D-interacting protein||608117|R, REc, A|||| | ||
1.931|3|15|11|1q21.2|PPIAL4A, COAS2|P|Peptidylprolyl isomerase A (cyclophilin A)-like 4A||608608|REc|||| | ||
1.932|7|18|12|1q21.1|SRGAP2B|P|SLIT-ROBO Rho GTPase-activating protein 2B||614703|REc|||| | ||
1.933|7|18|12|1q21.1|SRGAP2D|P|SLIT-ROBO Rho GTPase-activating protein 2D||614705|A|||| | ||
1.934|8|1|12|1q21.1|UAQTL6|P|Uric acid concentration, serum, quantitative trait locus 6||614747|Fd|associated with C/T variant at chr1_142697422||[Uric acid concentration, serum, QTL6] (2)| | ||
1.935|7|13|98|1q21.3|PIK4CB|P|Phosphatidylinositol 4-kinase, catalytic, beta polypeptide||602758|REa, A, R|||| | ||
1.936|10|23|02|1q21.3|RFX5|C|Regulatory factor X, 5 (influences HLA class II expression)||601863|A|||Bare lymphocyte syndrome, type II, complementation group C, 209920|(3); Bare lymphocyte syndrome, type II, complementation group E, 209920 (3) | ||
1.937|12|21|09|1q21.2|BOLA1|P|BolA, E. coli, homolog of, 1||613181|REc|||| | ||
1.938|7|17|09|1q21.3|ENSA|P|Endosulfine, alpha||603061|REc|||| | ||
1.939|9|12|13|1q21.2|GJA5, CX40, ATFB11|C|Gap junction protein, alpha-5, 40kD (connexin 40)||121013|REa, A, REc|||Atrial fibrillation, familial, 11, 614049 (3); Atrial standstill,|digenic, 108770 (3) | |3(Gja5)|
1.940|9|2|08|1q21.3|GOLPH3L, GPP34R|P|Golgi phosphoprotein 3-like||612208|R, REc|||| | ||
1.941|5|22|03|1q21.2-q21.3|HPRP3, RP18|C|RNA splicing factor, U4/U6-associated||607301|Fd, A|||Retinitis pigmentosa 18, 601414 (3)| | ||
1.942|4|16|03|1q22|LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B|C|Lamin A/C||150330|A, Fd, R|||Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3); Cardiomyopathy, dilated, 1A, 115200 (3); Lipodystrophy, familial partial, 2, 151660 (3);|Emery-Dreifuss muscular dystrophy 3, AR, 181350 (3); Charcot-Marie-Tooth disease,|type 2B1, 605588 (3); Muscular dystrophy, congenital, 613205 (3); Muscular dystrophy, limb-girdle, type 1B, 159001 (3); Mandibuloacral dysplasia, 248370 (3); Hutchinson-Gilford progeria, 176670 (3); Restrictive dermopathy, lethal, 275210 (3); Heart-hand syndrome, Slovenian type, 610140 (3); Malouf syndrome, 212112 (3)|3(Lmna)|
1.943|5|25|13|1q21.3|OAZ3, AZ3|P|Ornithine decarboxylase antizyme 3||605138|REc|||| | ||
1.944|1|23|08|1q21.2|OTUD7B, CEZANNE|P|OTU domain-containing protein 7B||611748|R, REc|||| | ||
1.945|6|5|12|1q21.2|SF3B4, SF3B49, SAP49, AFD1|P|Splicing factor 3B, subunit 4||605593|R, REc|||Acrofacial dysostosis 1, Nager type, 154400 (3)| | ||
1.946|5|21|07|1q22|SMG5, EST1B, KIAA1089|P|SMG5, C. elegans, homolog of||610962|R, REc|||| | ||
1.947|6|22|12|1q21.2|SV2A, SV2|P|Synaptic vesicle glycoprotein 2A||185860|REc, R|||| | ||
1.948|7|15|09|1q21.3|TARS2|P|Threonyl-tRNA synthetase 2||612805|REc|||| | ||
1.949|12|13|06|1q21.3|ZNF687, KIAA1441|P|Zinc finger protein 687||610568|REc, Ch|fused with AML1 in t(1;21)||| | ||
1.950|11|4|04|1q23.3|F11R, JAM1|P|F11 receptor (junctional adhesion molecule 1)||605721|REc|||| | ||
1.951|5|27|05|1q21.2|FCGR1A, IGFR1, CD64|C|Fc fragment of IgG, high affinity Ia, receptor for (CD64)||146760|REa, H, A|||[IgG receptor I, phagocytic, familial deficiency of] (3)| | |3(Fcgr1)|
1.952|8|9|99|1q21.2-q21.3|SEC22L1, SEC22B|P|Secretion deficient 22, S. Cerevisiae, homolog-like 1||604029|R|||| | ||
1.953|6|30|08|1q21.3|TNFAIP8L2, TIPE2|P|Tumor necrosis factor-alpha-induced protein 8-like 2||612112|REc, H|||| | |3(Tnfaip8l2)|
1.954|12|21|09|1q23.1|FCRL1, FCRH1|P|Fc receptor-like protein 1||606508|REc|||| | ||
1.955|11|27|01|1q23.1|FCRH3|P|Fc receptor-like protein 3||606510|REc|||| | ||
1.956|12|28|08|1q23.2|IGSF4B, TSLL1, NECL1, SYNCAM3|P|Immunoglobulin superfamily, member 4B||609743|A, H|||| | |1(Igsf4b)|
1.957|11|27|01|1q23.1|SPAP1, SPAP1A, SPAP1B, SPAP1C|P|SH2 domain-containing phosphatase anchor protein 1||606509|REc|||| | ||
1.958|1|30|01|1q22|ADAM15, MDC15|P|A disintegrin and metalloproteinase domain 15||605548|A|||| | ||
1.959|1|14|13|1q21.3|ADAR, DRADA, DSH, DSRAD, IFI4, G1P1, AGS6|C|Adenosine deaminase, RNA-specific||146920|A, REc, REa|||Dyschromatosis symmetrica hereditaria, 127400 (3); Aicardi-Goutieres|syndrome 6, 615010 (3) | |3(Adar)|
1.960|9|22|08|1q21.3|ATP8B2, ATPID|P|ATPase, class I, type 8B, member 2||605867|REc|||| | ||
1.961|7|20|12|1q21.3|BNIPL, BNIPS, BNIPL1, BNIPL2|P|BCL2/adenovirus E1B 19kD protein-interacting protein 2-like||611275|R, REc|||| | ||
1.962|4|19|12|1q21.3|CERS2, LASS2|P|Ceramide synthase 2||606920|R|||| | ||
1.963|9|2|11|1q21.3|CHTOP, C10orf77, SRAG, FOP|P|Chromatin target of PRMT1||614206|REc|||| | ||
1.964|1|13|11|1q21.3|CKS1B, CKS1|P|CDC28 protein kinase 1B||116900|REc|previously to 8q21 by FISH||| | ||
1.965|8|4|97|1q23.1|CRABP2, RBP6|C|Cellular retinoic acid-binding protein-2||180231|A, REc|||| | ||
1.966|6|20|07|1q21.3|CREB3L4, CREB4, AIBZIP|C|cAMP responsive element binding protein 3-like 4||607138|REc, A|||| | ||
1.967|10|27|08|1q21.3|CRTC2, TORC2|P|CREB-regulated transcription coactivator 2||608972|R, REc|||| | ||
1.968|11|30|06|1q21.3|FLAD1, FADS|P|Flavin adenine dinucleotide synthetase, S. cerevisiae, homolog of||610595|REc|||| | ||
1.969|6|7|11|1q21.3|HAX1, SCN3|C|HCLS1-associated protein X1||605998|R, REc|||Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)| | ||
1.970|1|18|06|1q21.3|HORMAD1, NOHMA|P|HORMA domain-containing 1||609824|REc, H|||| | |3(Nohma)|
1.971|2|16|10|1q21.3|HRM2|P|Hair morphology 2 (curly hair)||139450|Fd|associated with rs11803731||Hair, curly (2)| | ||
1.972|8|1|12|1q21.3|IL6R, IL6RQ, IL6Q|C|Interleukin-6 receptor||147880|REa, A|IL6R-like gene on chr.9||[Interleukin-6 receptor, soluble, serum level of, QTL], 614689 (3);|[Interleukin 6, serum level of, QTL], 614752 (3) | ||
1.973|9|10|03|1q21.3|KCNN3, SK3, SKCA3|C|Potassium channel, calcium-activated, intermediate/small conductance,|subfamily N, member 3|602983|A, Psh, R|||| | ||
1.974|9|16|12|1q21.3|LINGO4, LRRN6D|P|Leucine-rich repeat- and Ig domain-containing NOGO|receptor-interacting protein 4|609794|REc|||| | ||
1.975|9|2|12|1q21.3|POGZ, KIAA0461|P|POGO transposable element with ZNF domain||614787|REc|||| | ||
1.976|7|27|09|1q21.3|PYGO2|P|Pygopus, Drosophila, homolog of, 2||606903|R, REc|||| | ||
1.977|2|1|11|1q21.3|RAB13|P|RAB13, member RAS oncogene family||602672|REc|previously assigned to 12q13 by in situ hybridization||| | ||
1.978|7|2|02|1q22|RHBG|P|Rhesus blood group, B glycoprotein||607079|A, H|||| | |3(Rhbg)|
1.979|7|18|12|1q21.3|RPRD2|P|Regulation of nuclear pre-mRNA domain-containing 2||614695|REc|||| | ||
1.980|10|2|12|1q21.3|PSMD4, S5A, RPN10|P|Proteasome 26S subunit, non-ATPase, 4||601648|REc|||| | |3(Psmd4)|
1.981|8|19|09|1q21.3|SCNM1, MGC3180|P|Sodium channel modifier 1||608095|REc|||| | ||
1.982|7|27|09|1q21.3|SLC27A3, FATP3|P|Solute carrier family 27 (fatty acid transporter), member 3||604193|R, REc|||| | ||
1.983|8|21|08|1q21.3|SNX27, MRT1|P|Sorting nexin 27||611541|R, REc|||| | ||
1.984|12|21|09|1q21.3|TCHH, THH, THL, TRHY|C|Trichohyalin||190370|A, RE|cluster = FLG, IVL, LOR, THL||| | ||
1.985|3|21|93|1q23.3|CD48, BCM1, BLAST1|C|CD48 antigen (B-cell membrane protein)||109530|REa, A, REn|||| | |1(Bcm1)|
1.986|4|27|09|1q23.3|ITLN1, INTL, LFR, HL1|C|Intelectin 1||609873|Psh, A, REc|||| | ||
1.987|4|27|09|1q23.3|ITLN2, HL2|P|Intelectin 2||609874|Psh, A|||| | ||
1.988|9|11|95|1q23.3|LY9|P|T-lymphocyte surface antigen Ly-9||600684|REn|within 410kb of CD48||| | |1(Ly9)|
1.989|10|4|05|1q21.2|ANP32E, LANPL|P|Acidic leucine-rich nuclear phosphoprotein 32 family, member E||609611|REc|||| | ||
1.990|10|2|12|1q22|ASH1L, KIAA1420, ASH1|P|ash1 (absent, small, or homeotic), Drosophila, homolog of||607999|REc|||| | ||
1.991|3|3|95|1q23.1|IFI16|C|Interferon, gamma-inducible protein 16||147586|REa, A|||| | ||
1.992|3|8|00|1q23.1|AIM2|P|Absent in melanoma 2||604578|A|||| | ||
1.993|2|12|09|1q23.3|CD244, NAIL, NKR2B4, SLAMF4|P|CD244 antigen||605554|REc|||{Rheumatoid arthritis, susceptibility to}, 180300 (3)| | ||
1.994|7|6|07|1q23.3|FCGR2B, CD32|P|Fc fragment of IgG, low affinity IIb, receptor for||604590|REc|||{Systemic lupus erythematosus, susceptibility to}, 152700 (3);|{Malaria, resistance to}, 611162 (3) | ||
1.995|8|19|13|1q22|GON4L, KIAA1606|P|GON4-like protein||610393|REc|||| | ||
1.996|3|24|06|1q22|HCN3, KIAA1535|P|Hyperpolerization-activated cyclic nucleotide-gated potassium|channel 3|609973|R, REc|||| | ||
1.997|12|4|02|1q21.3|LENEP, LEP503|P|Lens epithelial protein||607377|A|||| | ||
1.998|7|15|13|1q22|LAMTOR2, MAPBPIP, p14|P|Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2||610389|R, REc|||Immunodeficiency due to defect in MAPBP-interacting protein, 610798|(3) | ||
1.999|8|20|07|1q22|MEX3A|P|Mex-3, C. elegans, homolog of, A||611007|REc|||| | ||
1.1000|3|23|09|1q22|MIR9-1, MIRN9-1|P|Micro RNA 9-1||611186|REc|||| | ||
1.1001|3|3|95|1q23.1|MNDA|P|Myeloid cell nuclear differentiation antigen||159553|REa, REn|||| | ||
1.1002|7|25|12|1q23.3|MPZ, CMT1B, CMTDID, CHM, DSS|C|Myelin protein zero||159440|REb, A, F, Fd, D|||Charcot-Marie-Tooth disease, type 1B, 118200 (3); Dejerine-Sottas|disease, 145900 (3); Neuropathy, congenital hypomyelinating, 605253 (3); Charcot-Marie-Tooth disease, type 2J, 607736 (3); Roussy-Levy syndrome,|180800 (3); Charcot-Marie-Tooth disease, type 2I, 607677 (3); Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3)|1(Mpp)|
1.1003|7|12|94|1q23.2|NHLH1, HEN1|P|Nescient helix loop helix 1||162360|H, REa, A|closely linked to Sap in mouse||| | |1(Nscl)|
1.1004|4|19|12|1q22|PAQR6|P|Progestin and ADIPOQ receptor family, member 6||614579|REc|||| | ||
1.1005|9|12|96|1q23.3|PPOX|P|Protoporphyrinogen oxidase||600923|A|||Porphyria variegata, 176200 (3)| | ||
1.1006|10|25|12|1q23.2|PEX19, PXF, HK33, D1S2223E, PBD12A|C|Peroxisome biogenesis factor 19 (peroxisomal farnesylated protein)||600279|REa, A|||Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3)| | ||
1.1007|7|29|09|1q22|RAB25, RAB11C|C|Ras-associated protein RAB25||612942|R, REc|||| | ||
1.1008|8|7|13|1q22|RIT1, RIT, ROC1, NS8|P|Ric-like protein without CAAX motif 1||609591|REc|||Noonan syndrome 8, 615355 (3)| | |3(Rit)|
1.1009|11|30|06|1q22|SEMA4A, SEMB, RP35, CORD10|P|Semaphorin 4A||607292|REc|||Retinitis pigmentosa 35, 610282 (3); Cone-rod dystrophy 10, 610283|(3) | ||
1.1010|9|2|08|1q23.3|SH2D1B, EAT2|P|SH2 domain-containing 1B||608510|A|||| | ||
1.1011|3|12|07|1q22|SLC25A44|P|Solute carrier family 25, member 44||610824|REc|||| | |3(Slc25a44)|
1.1012|1|21|11|1q22|SLC50A1, RAG1AP1|P|Solute carrier family 50 (sugar transporter), member 1||613683|REc|||| | ||
1.1013|4|17|13|1q21.3|SNAPIN, SNAPAP, BLOC1S7, BLOS7|P|SNAP-associated protein||607007|R, REc|||| | ||
1.1014|7|16|02|1q23.3|USP21, USP23|P|Ubiquitin-specific protease 21||604729|R|||| | ||
1.1015|6|23|98|1q24.1|ALDH9A1, ALDH9, E3|P|Aldehyde dehydrogenase 9 family, member A1||602733|A, REa|||| | ||
1.1016|2|28|01|1q23.3|ATF6|P|Activating transcription factor-6||605537|REc|||| | ||
1.1017|6|7|06|1q24.2|CD247, CD3Z, TCRZ|C|CD247 antigen||186780|REa, A, REn|||Immunodeficiency due to defect in CD3-zeta, 610163 (3)| | |1(T3z, Cd3z)|
1.1018|3|17|06|1q23.2|IGSF9, KIAA1355|C|Immunoglobulin superfamily, member 9||609738|REc, REn, H|||| | |1(Igsf9)|
1.1019|8|17|98|1q23.3|LMX1A, LMX1|P|LIM homeo box transcription factor-1, alpha||600298|A|||| | ||
1.1020|2|8|11|1q23.2|NCSTN|P|Nicastrin||605254|REn|||Acne inversa, familial, 1, 142690 (3)| | ||
1.1021|5|9|95|1q24.1-q24.2|OTF1, OCT1|C|Octamer-binding transcription factor-1||164175|REa, REn, A|||| | |1(Otf1)|
1.1022|5|2|94|1q23.3|RXRG|P|Retinoid X receptor, gamma||180247|H, A|||| | |1(Rxrg)|
1.1023|8|24|04|1q23.3|SLAMF1, SLAM, CDW150, CD150|P|SLAM family, member 1||603492|REc|||| | ||
1.1024|8|2|13|1q21.3|TPM3, NEM1, CFTD, CAPM1|C|Tropomyosin 3||191030|REa, A|TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd||Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3);|CAP myopathy 1, 609284 (3); Myopathy congenital, with fiber-type disproportion, 255310 (3)| |1(Tpm3)|
1.1025|4|15|04|1q23.3|USF1, HYPLIP1|C|Upstream stimulatory factor-1||191523|REa, A, Fd|||{Hyperlipidemia, familial combined, susceptibility to}, 602491 (3)| | |1(Usf1)|
1.1026|7|1|05|1q24.1|UCK2, TSA903|P|Uridine/cytidine kinase 2||609329|REc|||| | ||
1.1027|3|22|06|1q23.2|CCDC19, NESG1|P|Coiled-coil domain-containing 19||605152|REc|||| | ||
1.1028|4|19|01|1q21.3|PIP5K1A|P|Phosphatidylinositol-4-phosphate 5-kinase, type I, alpha||603275|A|||| | ||
1.1029|2|2|07|1q24.2|ATP1B1|C|ATPase, Na+K+ transporting, beta-1 polypeptide||182330|REa, A, REn|||[Blood pressure regulation QTL], 145500 (2)| | |1(Atp1b1)|
1.1030|8|9|99|1q23.3|B4GALT3|P|Beta-1,4-galactosyltransferase 3||604014|A|||| | ||
1.1031|6|8|01|1q23|BDET|P|Bleeding disorder, east Texas type||605913|Fd|||Bleeding disorder, east Texas type (2)| | ||
1.1032|1|23|90|1q23|D1S61, D1S111, MS336|P|Minisatellite 33.6||157560|REa, A|||| | ||
1.1033|7|13|99|1q22|CCT3, TRIC5|P|Chaperonin-containing TCP1, subunit 3, gamma|(TCP1 (t-complex-1) ring complex, polypeptide 5)|600114|A|||| | |3(Tric5)|
1.1034|5|4|12|1q24.2|F5, THPH2, RPRGL1|C|Coagulation factor V (proaccelerin, labile factor)||612309|REa, A, Fd, REn|Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment||Factor V deficiency, 227400 (3); {Thrombophilia, susceptibility to,|due to factor V Leiden}, 188055 (3); {Stroke, ischemic, susceptibility to}, 601367 (3); {Budd-Chiari syndrome}, 600880 (3); Thrombophilia due to activated|protein C resistance, 188055 (3); {Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)|1(Cf5)|
1.1035|7|10|91|1q23.2|FCER1A|C|Fc IgE receptor, alpha polypeptide||147140|REa, A|||| | |1(Fcer1a)|
1.1036|8|11|91|1q23.3|FCER1G|P|Fc fragment of IgE, high affinity I, receptor for, gamma polypeptide||147139|H, A|probably on 1q close to CD32||| | |1(Fcer1a)|
1.1037|7|31|08|1q23.3|FCGR2C, CD32C|P|Fc fragment of IgG, low affinity IIc, receptor for||612169|REc|||Thrombocytopenic purpura, autoimmune, 188030 (1)| | ||
1.1038|8|3|12|1q23.3|FCGR3A, CD16, IGFR3|C|Fc fragment of IgG, low affinity III, receptor for (CD16)||146740|REb, REn|FCGR2A and FCGR3A within 250kb; ?same as neutrophil-specific|antigen|{Viral infections, recurrent} (3)| | ||
1.1039|8|3|12|1q23.3|FCGR3B|P|Fc fragment of IgG, low affinity IIIb, receptor for||610665|REc|||Neutropenia, alloimmune neonatal (3)| | ||
1.1040|7|12|02|1q23.3|FREB|P|Fc receptor homolog expressed in B cells||606891|REc|||| | ||
1.1041|4|14|05|1q23|LFS3|P|Li-Fraumeni syndrome 3||609266|Fd|||Li-Fraumeni syndrome 3 (2)| | ||
1.1042|3|8|00|1q24.1|MGST3|P|Glutatione S-transferase, microsomal, 3||604564|A|||| | ||
1.1043|2|2|07|1q23.3|RGS5|P|Regulator of G protein signaling-5||603276|Psh, R|||[Blood pressure regulation QTL], 145500 (2)| | ||
1.1044|8|25|04|1q23.3|NDUFS2|P|NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kD||602985|REc, A|||Mitochondrial complex I deficiency, 252010 (3)| | ||
1.1045|2|6|08|1q23.3|NUF2, NUF2R, CDCA1|P|NUF2, S. cerevisiae, homolog of||611772|R|||| | ||
1.1046|2|9|92|1q23.3|PBX1|C|Pre-B cell leukemia transcription factor-1||176310|Ch, A|t(1;19); pseudogene PBXP1 on chr.3||Leukemia, acute pre-B-cell (2)| | |1(Pbx)|
1.1047|6|5|12|1q24.3|TNFSF6, APT1LG1, FASL, ALPS1B|C|Tumor necrosis factor ligand superfamily, member 6||134638|A|||Autoimmune lymphoproliferative syndrome, type IB, 601859 (3);|{Lung cancer, susceptibility to}, 211980 (3) | |1(Fas1)|
1.1048|6|15|99|1q25.1|TNFSF18, AITRL, GITRL|P|Tumor necrosis factor ligand superfamily, member 18||603898|R|||| | ||
1.1049|8|30|02|1q24.2|XCL1, SCYC1, SCM1, LTN, LPTN|C|Chemokine, C motif, ligand 1|(lymphotactin)|600250|H, REa, A|||| | |1(Lptn)|
1.1050|8|30|02|1q24.2|XCL2, SCYC2, XCL2, SCM1B|P|Chemokine, C motif, ligand 2||604828|A|||| | ||
1.1051|2|4|02|1q23.3|SLAMF7, CRACC, CS1|C|SLAM family, member 7||606625|REc|||| | ||
1.1052|4|17|01|1q24.2|TBX19|P|T-box 19||604614|R|||Adrenocorticotropic hormone deficiency, 201400 (3)| | ||
1.1053|4|7|00|1q23.2|COPA|P|Coatomer protein complex, subunit alpha||601924|A|||| | ||
1.1054|4|30|93|1q24.3|FMO1|P|Flavin-containing monooxygenase 1, fetal liver||136130|Psh, A|||| | ||
1.1055|6|4|08|1q24.3|FMO2|P|Flavin-containing monooxygenase 2, pulmonary||603955|Psh, REc|probably cluster of FMO genes at 1q23-q25||| | ||
1.1056|10|26|97|1q24.3|FMO3, TMAU|P|Flavin-containing monooxygenase 3||136132|Psh|||Trimethylaminuria, 602079 (3)| | ||
1.1057|6|4|08|1q24.3|FMO4|P|Flavin-containing monooxygenase 2, adult liver||136131|REc|||| | ||
1.1058|4|23|08|1q25.1|MRPS14|P|Mitochondrial ribosomal protein S14||611978|R, REc|||| | ||
1.1059|6|9|98|1q24.3|PIGC, GPI2|C|Phosphatidylinositol glycan, class C||601730|REc, A|||| | ||
1.1060|7|14|11|1q24.2|SELE, ELAM1|C|Selectin E (endothelial leukocyte adhesion molecule-1)||131210|REn|||[Blood pressure regulation QTL], 145500 (2)| | |1(Elam)|
1.1061|7|14|11|1q24.2|SELL, LYAM1, LAM1, LNHR|C|Selectin L (lymphocyte adhesion molecule 1)||153240|A, REn|||| | |1(Lnhr)|
1.1062|10|30|03|1q24.2|SELP, GRMP|C|Selectin P (granulocyte membrane protein, 140kD; antigen CD62)||173610|REn, A|in same 300kb segment as LYAM1, ELAM1||Platelet alpha/delta storage pool deficiency (1); {Atopy,|susceptibility to}, 147050 (3) | |1(Grmp)|
1.1063|3|1|12|1q25.1|SERPINC1, AT3, AT3D, THPH7|C|Antithrombin III||107300|F, D, A, REa, Fd|~17cM distal to FY||Thrombophilia due to antithrombin III deficiency, 613118 (3)| | |1(At3)|
1.1064|11|28|01|1q43|FMN2|L|Formin 2||606373|H|||| | |1(Fmn2)|
1.1065|2|22|13|1q21.3|GATAD2B, KIAA1150, p68, MRD18|P|GATA zinc finger domain-containing protein 2B||614998|REc|||Mental retardation, autosomal dominant 18, 615074 (3)| | ||
1.1066|1|30|02|1q23.2|IGSF8, PGRL, CD81P3|C|Immunoglobulin superfamily, member 8||606644|REc, R|||| | ||
1.1067|4|15|08|1q23.1|ISG20L2|P|Interferon-stimulated exonuclease gene 20-kD-like 2||611930|REc|||| | ||
1.1068|6|13|12|1q23.1|KIRREL, NEPH1|P|Kin of IRRE-like||607428|REc|||| | ||
1.1069|8|18|04|1q23.3|KIS|P|Kinase-interacting stathmin||608849|R|||| | ||
1.1070|12|10|13|1q23.3|NR1I3, CAR, MB67|P|Nuclear receptor subfamily 1, group I, member 3||603881|REc|||| | ||
1.1071|8|3|12|1q23.1|PEAR1|P|Platelet endothelial aggregation receptor 1||610278|REc, R|||| | ||
1.1072|8|24|04|1q23.2|SLAMF6, NTBA|P|SLAM family, member 6||606446|R, REc|||| | ||
1.1073|11|19|13|1q22|TMEM79, MATT|P|Transmembrane protein 79||615531|REc, H|||| | |3(Tmem79)|
1.1074|12|21|10|1q23.2|DARC, FY, GPD, WBCQ1|C|Duffy antigen receptor for chemokines (glycoprotein D)||613665|F, Fc, Fd, A|by A, 1q22-q23||[Blood group, Duffy system], 110700 (3); {Malaria, vivax, protection|against}, 611162 (3); [White blood cell count QTL], 611862 (3) | |1(Fy, Darc)|
1.1075|9|1|11|1q23.2|KCNJ10, SESAME|C|Potassium inwardly-rectifying channel, subfamily J, member 10||602208|H, REc|||SESAME syndrome, 612780 (3); Enlarged vestibular aqueduct, digenic,|600791 (3) | |1(Kcnj10)|
1.1076|8|23|06|1q23.2|PIGM|P|Phosphatidylinositol glycan, class M||610273|R, REc|||Glycosylphosphatidylinositol deficiency, 610293 (3)| | ||
1.1077|2|23|08|1q24.2|TIPRL, TIP41, TIP|P|TIP41-like protein||611807|REc|||| | ||
1.1078|10|3|11|1q23.3|ARHGAP30|P|RHO GTPase-activating protein 30||614264|REc|||| | ||
1.1079|1|11|07|1q23.3|DEDD, DEFT|C|Death effector domain-containing protein||606841|R, REc|||| | ||
1.1080|12|5|03|1q25.1|GAS5|P|Growth arrest-specific 5||608280|REc|||| | ||
1.1081|2|10|11|1q23.3|HSD17B7|P|17-beta-hydroxysteroid dehydrogenase VII||606756|REc|||| | ||
1.1082|1|1|10|1q23.3|NOS1AP, CAPON, KIAA0464|P|Nitric oxide synthase 1 (neuronal) adaptor protein||605551|R, REc|||| | ||
1.1083|10|29|03|1q24.2|PACE1|P|Protein associated with the C-terminal domain of ezrin||608192|REc|||| | ||
1.1084|9|9|10|1q23.3|PFDN2|P|Prefoldin 2||613466|REc|||| | ||
1.1085|2|1|11|1q23.3|PVRL4, PRR4, EDSS1|P|Poliovirus receptor-like 4||609607|REc|||Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3)| | ||
1.1086|2|21|10|1q23.3|QTV|P|QT interval, variation in||610141|Fd|associated with rs12143842||[QT interval, variation in] (2)| | ||
1.1087|5|5|09|1q23.3|RGS4|P|Regulator of G protein signaling 4||602516|REc|||| | ||
1.1088|2|13|12|1q24.2|SLC19A2, THTR1, TRMA, THMD1|C|Solute carrier family 19 (thiamine transporter), member 2||603941|Fd, REc|||Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)| | ||
1.1089|5|25|13|1q23.3|UAP1, SPAG2|P|ADP-N-acetylglucosamine pyrophosphorylase 1||602862|REc|||| | ||
1.1090|5|26|13|1q23.3|UFC1|P|Ubiquitin-fold modifier-conjugating enzyme 1||610554|REc|||| | ||
1.1091|1|20|11|1p32.3|ZCCHC11, KIAA0191|C|Zinc finger CCHC domain-containing protein 11||613692|R, REc|||| | ||
1.1092|11|30|00|1q24|DFNM1|P|Deafness, nonsyndromic, modifier 1||605429|Fd|||{Deafness, nonsyndromic, modifier 1} (2)| | ||
1.1093|1|11|07|1q22|FDPS, FPS|P|Farnesyl diphosphate synthase||134629|R, REc|||| | ||
1.1094|3|9|00|1q25.1|GPR52|P|G protein-coupled receptor 52||604106|REc|||| | ||
1.1095|9|9|10|1q24.2|NME7, MN23H7|P|Nonmetastatic cells 7, protein expressed in||613465|REc|||| | ||
1.1096|7|28|11|1q24.2|PRRX1, PMX1, PHOX1, AGOTC|C|Paired-related homeobox gene 1||167420|H, Fd, A|||Agnathia-otocephaly complex, 202650 (3)| | |1(Pmx)|
1.1097|5|26|13|1q24.2|RCSD1, CAPZIP|P|RCSD domain-containing protein 1||610579|REc|||| | ||
1.1098|10|7|02|1q24.2|SAC, HCA2|P|Adenylyl cyclase, soluble||605205|REc|||{Hypercalciuria, absorptive, susceptibility to}, 143870 (3)| | ||
1.1099|3|2|98|1q25.1|TNR|C|Tenascin R (restrictin, janusin)||601995|A, R|||| | |4(Tnr)|
1.1100|3|29|12|1q25.2|TOR1AIP1, LAP1, LAP1B|P|Torsin A-interacting protein 1||614512|REc|||| | ||
1.1101|3|29|12|1q25.2|TOR1AIP2, LULL1|P|Torsin A-interacting protein 2||614513|REc|||| | ||
1.1102|9|19|13|1q25.2|QSOX1|P|Quiescin Q6 sulfhydryl oxidase 1||603120|A|||| | ||
1.1103|2|4|92|1q25.2|ABL2, ABLL, ARG|C|Abelson murine leukemia viral (v-abl) oncogene homolog 2 (arg,|Abelson-related gene)|164690|REa, A, Ch|fused with ETV6 in AML||Leukemia, acute myeloid, with eosinophilia (1)| | |1(Abll)|
1.1104|8|10|05|1q25.3-q31.1|HMCN1, FBLN6, FIBL6, ARMD1|P|Hemicentin (fibulin 6)||608548|REc|||{Macular degeneration, age-related, 1}, 603075 (3)| | ||
1.1105|1|23|01|1q31.1|PRG4, CACP, MSF, SZP, HAPO|C|Proteoglycan 4 (megakaryocyte stimulating factor; hemangiopoietin)||604283|Fd, A|||Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)| | |1(Prg4)|
1.1106|8|28|01|1q25.1|SIP|P|SIAH1-interacting protein||606186|REc|||| | ||
1.1107|5|12|09|1q24.1|TADA1L, STAF42|P|Transcriptional adaptor 1-like||612763|REc|||| | ||
1.1108|5|13|02|1q24.3|VAMP24|P|Vesicle-associated membrane protein 4||606909|R, REc|||| | ||
1.1109|5|6|13|1q24.1|LRRC52|P|Leucine-rich repeat-containing protein 52||615218|REc|||| | ||
1.1110|9|10|09|1q24.1|MAEL|P|Maelstrom, Drosophila, homolog of||611368|REc|||| | ||
1.1111|1|29|08|1q25.1-q25.2|RFWD2, COP1|P|Ring finger- and WD repeat domain-containing protein 2||608067|REc|pseudogenes on chr. 3, 9, 18||| | ||
1.1112|8|3|11|1q24.1|TMCO1, CFSMR|P|Transmembrane and coiled-coil domains protein 1||614123|REc|||Craniofacial dysmorphism, skeletal anomalies, and mental retardation|syndrome, 614132 (3) | ||
1.1113|7|24|12|1q24.2|BRP44, MPC2|P|Brain protein 44||614737|REc|||| | ||
1.1114|3|27|12|1q24.2|DCAF6, IQWD1, NRIP|P|DDB1 and CUL4 associated factor 6||610494|R, REc|||| | ||
1.1115|4|15|11|1q24.2|GORAB, SCYL1BP1, NTKLBP1, GO|P|Golgin, RAB6-interacting||607983|R, REc|||Geroderma osteodysplasticum, 231070 (3)| | ||
1.1116|9|24|08|1q24.2|GPR161|P|G protein-coupled receptor 161||612250|R, REc|||| | ||
1.1117|7|17|09|1q24.2|KIFAP3, SMAP|P|Kinesin-associated protein 3||601836|R, REc|||| | ||
1.1118|6|4|13|1q24.2|METTL18, C1orf156|P|Methyltransferase-like 18||615255|REc|||| | ||
1.1119|1|17|08|1q25.2|C1orf76, NDSP|P|Neuroblastoma-derived secretory protein||611727|REc|||| | ||
1.1120|7|18|12|1q24.3|DNM3, KIAA0820|P|Dynamin 3||611445|REc|||| | ||
1.1121|3|23|09|1q24.3|MIR199A2, MIRN199A2|P|Micro RNA 199A2||610720|REc|||| | ||
1.1122|3|23|09|1q24.3|MIR214, MIRN214|P|Micro RNA 214||610721|REc|||| | ||
1.1123|7|18|11|1q24.3|MIR3120|P|Micro RNA 3120||614722|REc|in intron 13 of DNM3 in sense orientation||| | ||
1.1124|10|24|12|1q24.3|MYOC, TIGR, GLC1A, JOAG, GPOA|C|Myocilin (trabecular meshwork-induced glucocorticoid response protein)||601652|REc, R, Fd, A|||Glaucoma 1A, primary open angle, 137750 (3)| | |1(Tigr)|
1.1125|8|30|07|1q25|AD14|P|Alzheimer disease 14||611154|Fd|max lod at D1S218||{Alzheimer disease-14} (2)| | ||
1.1126|7|13|09|1q25.2|ASTN1, ASTN|P|Astrotactin 1||600904|A|||| | |1(Astn)|
1.1127|12|17|07|1q25.3|C1orf25, TRM1L|P|Trm1-like||611673|REc|||| | ||
1.1128|4|30|09|1q25.3|DHX9, DDX9, NDHII|C|DEAH (Asp-Glu-Ala-His) box polypeptide 9||603115|H|||| | |1(Ddx9)|
1.1129|8|21|07|1q25.2|FAM20B|P|Family with sequence similarity 20, member B||611063|R, REc|||| | ||
1.1130|10|2|09|1q25.2|LHX4, CPHD4|C|LIM homeo box gene 4||602146|A, Ch|fused to IGH in ALL||Pituitary hormone deficiency, combined, 4, 262700 (3)| | ||
1.1131|5|31|05|1q25.3|NCF2|C|Neutrophil cytosolic factor-2, 65kD||608515|REa, A|||Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)| | |1(Ncf2)|
1.1132|9|7|07|1q25.3|NPL, C1orf13, C112|P|N-acetylneuraminate pyruvate lyase||611412|REc|||| | ||
1.1133|5|3|07|1q25|PDON2|P|Periodontitis, aggressive, 2||608526|Fd|between D1S196 and D1S533||Periodontitis, aggressive, 2 (2)| | ||
1.1134|12|24|08|1q31.1|PLA2G4A, PLA2G4|P|Phospholipase A2, group IVA, cytosolic||600522|A|||Phospholipase A2, group IV A, deficiency of (3)| | ||
1.1135|8|20|07|1q25.3|RGSL1|P|Regulator of G protein signaling-like 1||611012|REc|||| | ||
1.1136|8|2|07|1q25|RGSL2|P|Regulator of G protein signaling-like 2||611013|REc|related to AD linked to 1q25||| | ||
1.1137|1|24|02|1q25.3|RNASEL, RNS4, PRCA1, HPC1|C|Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)||180435|A, Fd|||Prostate cancer 1, 601518 (3)| | ||
1.1138|5|21|07|1q25.3|SMG7, EST1C, KIAA0250|C|SMG7, C. elegans, homolog of||610964|R, REc|||| | ||
1.1139|3|12|96|1q25.2|SOAT1, STAT, ACAT|P|Sterol O-acyltransferase 1 (acyl-Coenzyme A: cholesterol|acyltransferase 1)|102642|A, REa|||| | ||
1.1140|4|18|05|1q25.1|TNFSF4, GP34, OX4OL|P|Tumor necrosis factor ligand superfamily, member 4||603594|A, H|||{Myocardial infarction, susceptibility to}, 608446 (3)| | |1(Tnfsf4)|
1.1141|1|1|95|1q31.1|TPR|C|Tumor potentiating region (translocated promoter region)||189940|REa, A|fused with MET in chemically induced tumor||| | ||
1.1142|3|8|91|1q22|BGLAP|P|Bone gamma-carboxyglutamic acid protein||112260|REa, REb|||| | |3(Bglap)|
1.1143|4|29|97|1q25.3|CACNA1E, CACNL1A6|P|Calcium channel, voltage-dependent, alpha 1E subunit||601013|A|||| | ||
1.1144|10|4|04|1q31.2|HRPT2, C1orf28|C|Parafibromin||607393|Fd, REc|||Hyperparathyroidism-jaw tumor syndrome, 145001 (3);|Hyperparathyroidism, familial primary, 145000 (3); Parathyroid adenoma with cystic changes, 145001 (3); Parathyroid carcinoma, 608266 (3)| ||
1.1145|2|21|02|1q25.3|LAMC2, LAMNB2, LAMB2T|C|Laminin, gamma-2 (nicein, 100kD; kalinin, 105kD; BM600, 100kD)||150292|A, Fd|||Epidermolysis bullosa, junctional, Herlitz type, 226700 (3);|Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) | ||
1.1146|10|25|10|1q25.2|PDCN, NPHS2, SRN1|C|Podocin||604766|REc, Fd|modifies phenotype of NPHS1 mutations to FSGS||Nephrotic syndrome, type 2, 600995 (3)| | ||
1.1147|6|19|98|1q25.3|RGS16|P|Regulator of G protein signaling-16||602514|A|||| | ||
1.1148|3|31|03|1q25.2|TOR3A, ADIR|P|Torsin family 3, member A|(ATP-dependent interferon-responsive protein)|607555|REc|||| | ||
1.1149|12|16|93|1q31.1|PDC|C|Phosducin, pineal gland||171490|H, REa, A|||| | |1(Pdc)|
1.1150|7|10|92|1q32.1|ATP2B4, ATP2B2, PMCA4|P|ATPase, Ca++ transporting, plasma membrane, 4||108732|REa, A, Fd|||| | ||
1.1151|10|8|07|1q25.1|CENPL|P|Centromeric protein L||611503|REc|||| | ||
1.1152|6|14|07|1q25.1|DARS2, ASPRS. LBSL|P|Aspartyl-tRNA synthetase 2||610956|R, REc|||Leukoencephalopathy with brain stem and spinal cord involvement and|lactate elevation, 611105 (3) | ||
1.1153|7|17|09|1q25.1|PRDX6|P|Peroxiredoxin 6||602316|REc|||| | ||
1.1154|10|30|06|1q25.1|RC3H1, KIAA2025|P|Roquin||609424|REc|||| | ||
1.1155|9|20|00|1q25.3|XPR1, SYG1|P|Xenotropic and polytropic retrovirus receptor||605237|R|||| | |1(Xpr1)|
1.1156|2|20|98|1q32.1|LAD1|L|Ladinin||602314|H|||| | |1(Lad1)|
1.1157|8|3|12|1q25.2|RASAL2, NGAP|P|Ras protein activator-like 2||606136|REc|||| | ||
1.1158|7|13|09|1q25.2|SEC16B, LZTR2, RGPR, SEC16S|P|Sec16, S. cerevisiae, homolog of, B||612855|REc|||| | ||
1.1159|1|1|95|1q31.1|PTGS2|P|Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and|cyclooxygenase)|600262|REa, A|||| | ||
1.1160|1|16|07|1q25.3|APOBEC4|P|Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 4||609908|REc|||| | ||
1.1161|7|17|09|1q25.3|IER5|P|Immediate-early response gene 5||607177|R, REc|||| | ||
1.1162|5|26|13|1q25.3|IVNS1ABP, NS1BP, ND1|P|Influenza virus NS1A protein-binding protein||609209|REc, R|||| | ||
1.1163|8|17|98|1q25.3|MR1, HLALS|P|Major histocompatibility complex, class I-related||600764|A|||| | ||
1.1164|9|11|12|1q25.3|NMNAT2, PNAT2, KIAA0479|P|Nicotinamide nucleotide adenylyltransferase 2||608701|REc|||| | ||
1.1165|7|27|09|1q25.3|RGL1, RGL|P|Ral guanine nucleotide dissociation stimulator-like 1||605667|R, REc|||| | ||
1.1166|11|2|04|1q25.3|RNF2, RING2, RING1B, HIPI3, DING, BAP1|P|RING finger protein 2||608985|R, REc|||| | ||
1.1167|4|19|06|1q25.3|VDAC4|C|Voltage-dependent anion channel 4||610030|Psh, REc|||| | ||
1.1168|7|31|08|1q31.3|ASPM, MCPH5|C|Abnormal spindle-like, microcephaly-associated||605481|Fd, REc|||Microcephaly 5, primary, autosomal recessive, 608716 (3)| | ||
1.1169|5|23|00|1q31.2|B3GALT2, GLCT2|P|UDP-galactose:beta-N-acetylglucosamine|beta-1,3-galactosyltransferase 2|603018|REc|||| | ||
1.1170|12|13|00|1q31|BOS2|P|Branchiootic syndrome 2||120502|Fd|||Branchiootic syndrome 2 (2)| | ||
1.1171|5|12|09|1q31|CELIAC7|P|Celiac disease, susceptibility to, 7||612005|Fd|associated with rs2816316||{Celiac disease, susceptibility to, 7} (2)| | ||
1.1172|1|24|93|1q32.1|CTSE|C|Cathepsin E||116890|REa, A, Fd|closely linked to REN||| | ||
1.1173|3|29|06|1q25.3|GLUL, GLNS|C|Glutamate-ammonia ligase (glutamine synthase)||138290|Psh, A, REc|pseudogene on chr.9||Glutamine deficiency, congenital, 610015 (3)| | ||
1.1174|11|4|08|1q32.1|KIF14, KIAA0042|C|Kinesin family member 14||611279|Psh, REc, H|||| | |1(Kif14)|
1.1175|10|29|96|1q31.2|RGS2, G0S8|P|G0 to G1 switch regulatory 8, 24kD||600861|A|||| | ||
1.1176|10|15|09|1q25.3|LAMC1, LAMB2|C|Laminin, gamma-1 (formerly LAMB2)||150290|REa, Fd|at least 3 genes, ?linked||| | |1(Lamb2)|
1.1177|3|21|07|1q32.3|LQK1|P|LQK1 protein||610864|REc|||| | ||
1.1178|1|24|03|1q31|MGR6, FHM3|P|Migraine, several forms||607516|Fd|||Migraine, familial hemiplegic (2); Migraine with or without aura,|susceptibility to (2) | ||
1.1179|2|6|08|1q32.1|NAV1, POMFIL3, KIAA1151|P|Neuron navigator 1||611628|R|||| | ||
1.1180|8|17|98|1q32.2|PFKFB2|P|Fructose-2,6-bisphosphatase, cardiac isozyme||171835|REa, A|||| | ||
1.1181|6|27|02|1q32.1|PHLDA3, TIH1|P|Pleckstrin homology-like domain, family A, member 3||607054|REc|||| | |1(Phlda3)|
1.1182|10|15|09|1q31|PVOP1|P|Pelvic organ prolapse, susceptibility to, 1||176780|Fd|associated with rs10911193||{Pelvic organ prolapse, susceptibility to, 1} (2)| | ||
1.1183|6|11|97|1q31.2|RGS1, IER1, IR20|P|Regulator of G-protein signaling 1||600323|A|||| | ||
1.1184|11|3|06|1q32.1|UBE2T, HSPC150|P|Ubiquitin-conjugating enzyme E2T||610538|R, REc|||| | ||
1.1185|3|8|07|1q31.2|TROVE2, RO60, SSA2|C|TROVE domain family, member 2||600063|A|||| | ||
1.1186|4|17|13|1q32.1|CDK18, PCTK3|P|Cyclin-dependent kinase 18||169190|A|||| | ||
1.1187|7|27|11|1q32.1|CHIT, CHITD|C|Chitotriosidase||600031|Fd, A|||[Chitotriosidase deficiency], 614122 (3)| | ||
1.1188|1|1|12|1q32.1|IL10, CSIF, GVHDS|C|Interleukin-10||124092|Psh, R|||{HIV-1, susceptibility to}, 609423 (3); {Graft-versus-host disease,|protection against}, 614395 (3); {Rheumatoid arthritis, progression of}, 180300 (3)| ||
1.1189|7|17|09|1q32.1|KIF21B, KIAA0449|P|Kinesin family member 21B||608322|R, REc|||| | |1(Kif21b)|
1.1190|6|26|01|1q31.3|LHX9|P|LIM homeo box gene 9||606066|REc|||| | |1(Lhx9)|
1.1191|7|22|09|1q31.3-q32.1|PTPRC, CD45, LCA|C|Protein tyrosine phosphatase, receptor type, c polypeptide||151460|A, S|||{Hepatitic C virus, susceptibility to}, 609532 (3); Severe combined|immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3)| |1(Ly5)|
1.1192|3|8|07|1q32.1|SLC41A1|P|Solute carrier family 41, member 1||610801|REc|||| | |1(Slc41a1)|
1.1193|7|22|09|1q31.3|CFHR1, FHR1, HFL1, CFHL1|P|Complement factor H-related 1||134371|R|||{Macular degeneration, age-related, reduced risk of}, 603075 (3);|{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) | ||
1.1194|7|22|09|1q31.3|CFHR2, FHR2, HFL3, CFHL2|C|Complement factor H-related 2||600889|REc, R|in same 165kb YAC as F13B||| | ||
1.1195|7|22|09|1q31.3|CFHR3, FHR3, HLF4, CFHL3|P|Complement factor H-related 3||605336|R|||{Macular degeneration, age-related, reduced risk of}, 603075 (3);|{Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3) | ||
1.1196|7|22|09|1q31.3|CFHR4, FHR4, CFHL4|P|Complement factor H-related 4||605337|R|||| | ||
1.1197|3|28|11|1q31.3|CRB1, RP12, LCA8|C|Crumbs, Drosophila, homolog of, 1||604210|Fd, REc|||Retinitis pigmentosa-12, autosomal recessive, 600105 (3);|Leber congenital amaurosis 8, 613835 (3); Pigmented paravenous chorioretinal atrophy, 172870 (3)| ||
1.1198|3|21|93|1q31.3|F13B|C|Coagulation factor XIII, B polypeptide||134580|Fd, A, RE|||Factor XIIIB deficiency, 613235 (3)| | |1(F13b)|
1.1199|12|3|90|1q32.1|MYOG, MYF4|C|Myogenic factor-4; myogenin||159980|REa, A|||| | |1(Myog)|
1.1200|6|4|97|1q31-q42|PHA2A, PHA2|P|Pseudohypoaldosteronism type IIA||145260|Fd|||Pseudohypoaldosteronism, type IIA (2)| | ||
1.1201|7|14|11|1q32.1|PIGR|C|Polymeric immunoglobulin receptor||173880|REa, A, Fd|||| | ||
1.1202|1|20|11|1q42.13|PSEN2, AD4, STM2, CMD1V|C|Presenilin 2||600759|Psh, REc, REn|||Alzheimer disease-4, 606889 (3); Cardiomyopathy, dilated, 1V, 613697|(3) | ||
1.1203|12|30|05|1q31.1|PSNP2|P|Supranuclear palsy, progressive, 2||609454|Fd|between D1S238 and D1S2823||Supranuclear palsy, progressive, 2 (2)| | ||
1.1204|12|18|08|1q31.2|RGS21|P|Regulator of G protein signaling 21||612407|REc|||| | |1(Rgs1)|
1.1205|4|4|02|1q31.2|GLRX2, GRX2|P|Glutaredoxin 2||606820|REc|||| | ||
1.1206|3|15|10|1q31.3|DENND1B, FAM31B, C1orf18|P|DENN/MADD domain-containing 1B||613292|REc|||| | ||
1.1207|12|21|10|1q32.3|FLVCR1, AXPC1, PCARP|P|Feline leukemia virus subgroup C receptor 1||609144|R|||Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)| | ||
1.1208|4|25|06|1q31.3|KCNT2, SLICK|P|Potassium channel, subfamily T, member 2||610044|REc|||| | ||
1.1209|5|11|09|1q32.1|MIR181A1, MIR213, MIRN181A1|P|Micro RNA 181A1||612742|REc|||| | ||
1.1210|5|11|09|1q32.1|MIR181B1, MIRN181B1|P|Micro RNA 181B1||612744|REc|||| | ||
1.1211|4|15|02|1q31.3|NEK7|P|Never-in-mitosis gene A-related kinase 7||606848|Psh, R|||| | ||
1.1212|7|5|90|1q32.1|TNNI1|C|Troponin-I, skeletal, slow||191042|REa, Psh|||| | |1(Tnni1)|
1.1213|2|11|13|1q31.3-q32.1|NYS7|C|Nystagmus 7, congenital||614826|Fd|between D1S218 and D1S2655||Nystagmus 7, congenital (2)| | ||
1.1214|8|17|98|1q32.1|AVPR1B, AVPR3|P|Arginine vasopressin receptor-1B||600264|A|||| | ||
1.1215|5|9|97|1q32.1|BTG2, PC3|P|B-cell translocation gene 2 (pheochromocytoma cell-3)||601597|REa, A|||| | ||
1.1216|7|9|90|1q32.2|C4BPA|C|Complement component 4-binding protein, alpha polypeptide||120830|F, REa, A, RE|same RE fragment as C4BPB||| | |1(C4bp)|
1.1217|7|9|90|1q32.2|C4BPB|P|Complement component 4-binding protein, beta polypeptide||120831|RE, A|||| | ||
1.1218|4|22|10|1q32.1|CACNA1S, CACNL1A3, CCHL1A3, TTPP1, HOKPP1|C|Calcium channel, voltage-dependent, L type, alpha 1S subunit||114208|H, REa, A, Fd|in mouse, mutation causes muscular dysgenesis||Hypokalemic periodic paralysis, type 1, 170400 (3); {Malignant|hyperthermia susceptibility 5}, 601887 (3); {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)| |1(Cchl1a3, mdg)|
1.1219|3|11|92|1q32.2|CD34|C|CD34 antigen||142230|REa, A|||| | |1(Cd34)|
1.1220|3|10|11|1q32.2|CD55, DAF, CROM|C|CD55 antigen (blood group Cromer)||125240|REa, A|||[Blood group Cromer], 613793 (3)| | ||
1.1221|12|21|12|1q31.3|CFHR5, CFHL5, FHR5, CFHR5D|P|Complement factor H-related 5||608593|A, R, REc|||Nephropathy due to CFHR5 deficiency, 614809 (3)| | ||
1.1222|7|6|07|1q32.2|CR1, C3BR|C|Complement component (3b/4b) receptor-1||120620|F, REa, A, RE|||CR1 deficiency (1); {?SLE susceptibility} (1); [Blood group, Knops|system], 607486 (3); {Malaria, severe, resistance to}, 611162 (3) | ||
1.1223|4|30|01|1q32.2|CR1L|P|Complement component receptor 1-like||605886|REc|||| | ||
1.1224|7|6|12|1q32.2|CR2, C3DR, SLEB9, CVID7|C|Complement component (3d/Epstein-Barr virus) receptor-2||120650|F, REa, A, RE|||{Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3);|Immunodeficiency, common variable, 7, 614699 (3) | |1(Cr2)|
1.1225|5|12|99|1q32.1|CSRP1, CSRP|C|Cysteine and glycine-rich protein-1||123876|REa, A|||| | |3(Csrp)|
1.1226|3|20|09|1q32.1|CYB5BR1, NQO3A2, B5R.1|P|Cytochrome b5 reductase 1||608341|REc|||| | ||
1.1227|11|13|98|1q32.1|ELF3, ESX|P|E74-like factor 3 (ETS domain transcription factor, serine box,|epithelial-specific)|602191|A|||| | ||
1.1228|1|1|95|1q32.1|ELK4, SAP1|P|ELK4, ETS-domain protein (SRF accessory protein 1)||600246|A|||| | |1(Elk4)|
1.1229|7|18|12|1q32.1|FAM72A, LMPIP, UGENE|P|Family with sequence similarity 72, member A||614710|REc|||| | ||
1.1230|9|8|11|1q32|GFND1|P|Glomerulopathy with fibronectin deposits 1||137950|Fd|max lod at D1S2782||Glomerulopathy with fibronectin deposits 1 (2)| | ||
1.1231|5|12|11|1q31.3|HF1, CFH, HUS, ARMD4, AHUS1|C|H factor-1 (complement factor H)||134370|F, REa, RE, H, Fd|||{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400|(3); Complement factor H deficiency, 609814 (3); {Macular degeneration, age-related, 4}, 610698 (3); Basal laminar drusen, 126700 (3)| |1(Cfh)|
1.1232|3|10|05|1q32.2|HHAT, MART2, SKI1|C|Hedgehog acyltransferase||605743|REc|||| | ||
1.1233|2|28|01|1q32.1|IL19|P|Interleukin 19||605687|R|||| | ||
1.1234|2|7|01|1q32.1|IL20|P|Interleukin 20||605619|R|||| | |1(Il20)|
1.1235|6|27|01|1q32.1|IL24, ST16, MDA7|C|Interleukin 24 (suppression of tumorigenicity 16)||604136|R|||| | ||
1.1236|7|22|09|1q32.1|KDM5B, JARID1B, PUT1, PLU1, RBBP2H1A|P|Lysine-specific demethylase 5B||605393|A|||| | ||
1.1237|9|28|12|1q32.1|KISS1, HH13|C|KISS1 metastasis suppressor||603286|A, R|||Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)| | ||
1.1238|8|1|08|1q32.2|LAMB3|P|Laminin, beta-3 (nicein, 125kD; kalinin, 140kD; BM600, 125kD)||150310|Fd|||Epidermolysis bullosa, junctional, Herlitz type, 226700 (3);|Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) | ||
1.1239|2|4|02|1q32.1|LGR6|P|Leucine-rich repeat-containing G protein-coupled receptor-6||606653|A|||| | ||
1.1240|8|17|09|1q32.2|MCP, CD46, AHUS2|C|Membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive|antigen)|120920|REa, A, REn|||{Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922|(3) | ||
1.1241|6|19|98|1q32.1|MDM4|P|Mouse double minute 4, homolog of||602704|A|||| | |1(Mdm4)|
1.1242|5|29|12|1q32.1|NUAK2, SNARK|P|NUAK family, SNF1-like kinase, 2||608131|A|||| | ||
1.1243|2|2|10|1q32|PARK16|P|Parkinson disease 16||613164|Fd|associated with rs823128||{Parkinson disease 16} (2)| | ||
1.1244|7|14|98|1q32.1|PIK3C2B|P|Phosphatidylinositol 3-kinase, class 2, beta polypeptide||602838|A|||| | ||
1.1245|3|6|01|1q32.1|PKP1|C|Plakophilin-1||601975|Psh, A|||Ectodermal dysplasia/skin fragility syndrome, 604536 (3)| | ||
1.1246|10|15|97|1q32.1|PRELP|P|Proline arginine-rich end leucine-rich repeat protein||601914|A|||| | ||
1.1247|1|27|11|1q41|PTPN14, PEZ|C|Protein tyrosine phosphatase, nonreceptor-type, 14||603155|A, REn, Fd|||Choanal atresia and lymphedema, 613611 (3)| | ||
1.1248|3|9|00|1q32.1|RAB7L1|P|RAB7-like 1||603949|A|||| | ||
1.1249|12|18|95|1q32.1|RBBP5, RBQ3|P|Retinoblastoma-binding protein-5||600697|Psh, A|||| | ||
1.1250|11|3|09|1q32.1|REN, HNFJ2|C|Renin||179820|REa, A, D, Fd, Ch|~24cM distal to AT3||[Hyperproreninemia] (3); Renal tubular dysgenesis, 267430 (3);|Hyperuricemic nephropathy, familial juvenile 2, 613092 (3) | |1(Ren1)|
1.1251|2|14|13|1q32.1|SNRPE, HYPT11|C|Small nuclear ribonucleoprotein polypeptide E||128260|REa, A, F|||Hypotrichosis 11, 615059 (3)| | ||
1.1252|5|4|00|1q32.1|SOX13, ICA12|P|SRY-box 13||604748|A|||| | ||
1.1253|7|6|00|1q32.1|TIMM17A, TIM17A|P|Translocase of inner mitochondrial membrane 17, yeast, homolog of, A||605057|A|||| | ||
1.1254|7|26|10|1q32.1|TNNT2, CMH2, CMD1D, RCM3, LVNC6|C|Troponin-T2, cardiac||191045|REa, Fd, A|||Cardiomyopathy, familial hypertrophic, 2, 115195 (3); Cardiomyopathy,|dilated, 1D, 601494 (3); Cardiomyopathy, familial restrictive, 3, 612422 (3); Left ventricular noncompaction 6, 601494 (3)| ||
1.1255|2|18|98|1q32.2-q32.3|TRAF5|P|TNF receptor-associated factor 5||602356|A|||| | |1(Traf5)|
1.1256|12|21|06|1q31.2|UCHL5, UCH37|P|Ubiquitin carboxyl-terminal hydrolase L5||610667|REc|||| | ||
1.1257|1|9|13|1q32.2|CAMK1G, CLICK3|P|Calcium/calmodulin-dependent protein kinase IG||614994|REc|||| | ||
1.1258|1|1|95|1q41|CENPF|P|Centromere autoantigen F, 400kD||600236|A|||| | |1(Cenpf)|
1.1259|1|30|12|1q32.2|G0S2|P|G0/G1 switch gene 2||614447|REc|||| | ||
1.1260|5|29|12|1q32.2|HSD11B1, HSD11, HSD11L, CORTRD2|C|Hydroxysteroid, 11-beta, dehydrogenase 1||600713|REa, REc|digenic triallelic mutations with H6PD||Cortisone reductase deficiency 2, 614662 (3)| | ||Tannin (1991)
1.1261|12|21|12|1q32.2|IRF6, VWS, LPS, PIT, PPS1, OFC6|C|Interferon regulatory factor 6||607199|REc, Fd|||van der Woude syndrome, 119300 (3); Popliteal pterygium syndrome 1,|119500 (3); Orofacial cleft 6, 608864 (3) | ||
1.1262|12|1|98|1q32.2|KCNH1, EAG|P|Potassium voltage-gated channel, subfamily H, member 1|(ether-a-go-go, drosophila, homolog of)|603305|Psh|||| | ||
1.1263|1|20|99|1q32.1|RABIF, RASGFR3, MSS4|P|Rab-interacting factor (Ras-specific guanine-releasing factor-3;|mammalian suppressor of SEC4)|603417|A|||| | ||
1.1264|4|25|12|1q32.1|ADIPOR1, CGI45|C|Adiponectin receptor 1||607945|REc|||| | |1(Adipor1)|
1.1265|5|18|95|1q32.1|ADORA1, RDC7|P|Adenosine A1 receptor||102775|A|||| | ||
1.1266|11|1|13|1q32.1|BLACAT1, LINC00912|P|Bladder cancer-associated transcript 1, noncoding||615480|REc|||| | ||
1.1267|3|24|11|1q32.1|CAMSAP1L, CAMSAP2, KIAA1078|P|Calmodulin-regulated spectrin-associated protein 1-like 1||613775|REc|||| | ||
1.1268|4|23|08|1q32.1|CHI3L1, GP39, YKL40, ASRT7|C|Chitinase 3-like 1 (cartilage glycoprotein-39)||601525|REa, REc|||{Schizophrenia, susceptibility to}, 181500 (3); {Asthma-related|traits, susceptibility to, 7}, 611960 (3) | ||
1.1269|9|9|13|1q32.1|CNTN2, TAX, TAX1, FAME5|C|Contactin 2 (transiently-expressed axonal glycoprotein)||190197|A|1 family identified with mutation||?Epilepsy, familial adult myoclonic, 5, 615400 (3)| | ||
1.1270|11|11|13|1q32.1|DDX59, OFD5|P|DEAD box polypeptide 59||615464|REc|||Orofaciodigital syndrome V, 174300 (3)| | ||
1.1271|8|16|13|1q32.1|DSTYK, KIAA0472, RIP5, DUSTYPK, CAKUT1|P|Dual serine/threonine and tyrosine protein kinase||612666|R, REc|||{Congenital anomalies of kidney and urinary tract, susceptibility|to}, 610805 (3) | ||
1.1272|1|24|10|1q32.1|EIF2D, HCA56|P|Eukaryotic translation initiation factor 2D||613709|REc, H|||| | |1(Eif2d)|
1.1273|3|20|06|1q32.1|ETNK2, EKI2|P|Ethanolamine kinase 2||609859|REc|||| | |1(Etnk2)|
1.1274|1|1|95|1q32.1|FMOD|P|Fibromodulin||600245|Psh, A|||| | ||
1.1275|12|29|00|1q32.1|GAC1|P|Glioma amplification on chromosome 1||605492|A|||| | ||
1.1276|2|20|98|1q32.1|GPR25|P|G protein-coupled receptor-25||602174|A|||| | ||
1.1277|2|12|09|1q32.1|IBD23|C|Inflammatory bowel disease 23||612381|Fd|associated with rs3024505||{Inflammatory bowel disease 23} (2)| | ||
1.1278|7|17|09|1q32.1|IKBKE|P|I-kappa-B kinase-epsilon||605048|R, REc|||| | ||
1.1279|3|29|12|1q32.1|KLHDC8A|P|Kelch domain-containing protein 8A||614503|REc|||| | ||
1.1280|3|30|12|1q32.1|KLHL12, DKIR|P|Kelch-like 12||614522|REc|||| | ||
1.1281|12|10|13|1q32.1|MAPKAPK2, MK2|P|Mitogen-activated protein kinase-activated protein kinase 2||602006|REc|||| | ||
1.1282|11|4|93|1q32.1|MYBPH|C|Myosin-binding protein H||160795|A|||| | ||
1.1283|1|28|00|1q32.1|NR5A2, FTF, HB1F|P|Nuclear receptor subfamily 5, group A, member 2|(fetoprotein transcription factor)|604453|A|||| | ||
1.1284|3|20|08|1q32.1|NUCKS1, NUCKS|P|Nuclear casein kinase and cyclin-dependent kinase substrate 1||611912|REc, H|||| | |1(Nucks1)|
1.1285|7|27|09|1q32.1|PEPP3, KIAA0969|P|Phosphatidylinositol 3-phosphate-binding PH domain protein 3||607771|R, REc|||| | ||
1.1286|8|20|01|1q32.1|PPP1R12B, MYPT2|P|Protein phosphatase 1, regulatory subunit 12B|(myosin phosphatase target subunit 2)|603768|A|||| | ||
1.1287|3|3|10|1q32.1|PPP1R15B, CREP|P|Protein phosphatase 1, regulatory subunit 15B||613257|REc|||| | ||
1.1288|8|16|12|1q32.1|PPFIA4|P|Protein-tyrosine phosphatase, receptor-type, F polypeptide-interacting|protein alpha 4|603145|REc|||| | ||
1.1289|11|27|94|1q32.1|PTPN7|P|Protein tyrosine phosphatase, nonreceptor-type, 7||176889|A, Ch|||| | ||
1.1290|1|17|06|1q32.1|SLC45A3, PRST, PCANAP6, IPCA6|P|Solute carrier family 45, member 3 (prostein)||605097|R|||| | ||
1.1291|4|2|03|1q32.1|RASSF5, NORE1|P|Ras association (RalGDS/AF-6) domain family 5|(Nore1, mouse, homolog of)|607020|REc|||| | |1(Nore1)|
1.1292|8|8|13|1q32.1|SLC26A9|P|Solute carrier family 26 (sulfate transporter), member 9||608481|REc|||| | ||
1.1293|3|14|07|1q32.1|SRGAP2, KIAA0456|P|Slit-robo GTPase-activating protein, rho, 2||606524|R, REc|||| | ||
1.1294|6|5|08|1q32.2|YOD1, OTUD2, DUBA8|P|YOD1 OTU deubiquitinating enzyme 1, S. cerevisiae, homolog of||612023|REc|||| | ||
1.1295|12|15|10|1q32.1|ZBED6|P|Zinc finger BED domain-containing protein 6||613512|REc|in intron 1 of ZC3H11A||| | ||
1.1296|12|15|10|1q32.1|ZC3H11A, KIAA0663|P|Zinc finger CCCH domain-containing protein 11A||613513|REc|||| | ||
1.1297|11|30|06|1q32.3|DTL, RAMP, DCAF2, CDT2|P|Denticleless, Drosophila, homolog of||610617|A|||| | ||
1.1298|6|10|98|1q32.1|RNPEP|P|Arginyl aminopeptidase (aminopeptidase B)||602675|A|||| | ||
1.1299|10|23|87|1q42.13|GUK1|C|Guanylate kinase-1||139270|S, D|||| | ||
1.1300|10|23|87|1q32.1-q42|GUK2|C|Guanylate kinase-2||139280|S, D|genetic independence of GUK1 and GUK2 unproved||| | ||
1.1301|2|3|05|1q32.1|DYRK3|C|Dual-specificity tyrosine phosphorylation-regulated kinase 3||603497|TM, REc|||| | |1(Dyrk3)|
1.1302|9|7|10|1q32.1|FAIM3, TOSO, FCMR|C|Fas apoptotic inhibitory molecule 3||606015|R, REn|||| | ||
1.1303|3|23|09|1q32.2|MIR29C, MIRN29C|P|Micro RNA 29C||610784|REc|||| | ||
1.1304|12|21|09|1q32.2|MIR205, MIRN205|P|Micro RNA 205||613147|REc|||| | ||
1.1305|7|27|09|1q32.2|PLXNA2, OCT, PLXN2|P|Plexin A2 (OCT transmembrane protein)||601054|REa, REc|||| | ||
1.1306|12|17|07|1q32.1-q32.2|SARG, C1orf116|P|Specifically androgen-regulated gene||611680|REc|||| | ||
1.1307|9|21|11|1q32.2|SYT14, SCAR11|P|Synaptotagmin 14||610949|REc|||Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)| | ||
1.1308|12|20|96|1q32.3|PROX1|P|Prospero-related homeo box 1||601546|REc|||| | |(Prox1)|
1.1309|12|27|13|1q32.3|NEK2, RP67|C|Never in mitosis gene a-related kinase 2||604043|A, REc|pseudogenes on chr. 2, 14, and 22; mutation identified in 1 family||?Retinitis pigmentosa 67, 615565 (3)| | ||
1.1310|5|25|10|1q32.3|ATF3|P|Activating transcription factor 3||603148|REc|||| | ||
1.1311|1|30|01|1q32.1|FCAMR|P|Fc fragment of IgA and IgM, receptor for||605484|A|||| | |1(Fcamr)|
1.1312|3|4|08|1q32.3|NENF, CIR2|C|Neuron-derived neurotrophic factor||611874|REc|||| | ||
1.1313|4|3|09|1q32.3|RD3, LCA12, C1orf36|P|Retinal degeneration 3, mouse, homolog of||180040|REc, H|||Leber congenital amaurosis 12, 610612 (3)| | |1(rd3)|
1.1314|2|25|08|1q32.3|SLC30A1, ZNT1|P|Solute carrier family 30 (zinc transporter), member 1||609521|REc|||| | ||
1.1315|7|22|11|1q32.2|TRAF3IP3, T3JAM|P|TRAF3-interacting protein 3||608255|REc|||| | |1(T3jam)|
1.1316|10|30|08|1q41|AIDA|P|Axin interactor, dorsalization-associated||612375|REc|||| | ||
1.1317|9|16|12|1q41|DUSP10, MKP5|P|Dual-specificity phosphatase 10||608867|REc|||| | ||
1.1318|8|24|98|1q41|ESRRG|P|Estrogen-related receptor, gamma||602969|Psh|||| | ||
1.1319|5|30|03|1q42.12|H3F3A, H3F3|P|H3 histone, family 3A||601128|REc|||| | ||
1.1320|7|15|09|1q41|IARS2|P|Isoleucyl-tRNA synthetase 2||612801|REc|||| | ||
1.1321|12|29|06|1q32-q41|SMYD2|P|SET and MYND domain-containing protein 2||610663|R, REc|||| | ||
1.1322|11|16|98|1q41|KCNK2, TREK|P|Potassium channel, subfamily K, member 2||603219|R|||| | ||
1.1323|3|4|10|1q41|KCTD3|P|Potssium channel tetramerization domain-containing protein 3||613272|REc|||| | ||
1.1324|6|1|12|1q32.3|LINC00538, YIYA|P|Long intergenic noncoding RNA 538||614635|REc|||| | ||
1.1325|7|17|09|1q41|MARK1, KIAA1477|P|MAP/microtubule affinity-regulating kinase 1||606511|R, REc|||| | ||
1.1326|3|23|09|1q41|MIR194-1, MIRN194-1|P|Micro RNA 194-1||610940|REc|||| | ||
1.1327|3|23|09|1q41|MIR215, MIRN215|P|Micro RNA 215||610943|REc|||| | ||
1.1328|7|27|11|1q41|MOSC1, MARC1|P|Molybdenum cofactor sulfurase C-terminal domain-containing protein 1||614126|REc|||| | ||
1.1329|7|27|11|1q41|MOSC2, MARC2|P|Molybdenum cofactor sulfurase C-terminal domain-containing protein 2||614127|REc|||| | ||
1.1330|6|4|97|1q32.3|PPP2R5A|P|Protein phosphatase-2, regulatory subunit B (B56), alpha isoform||601643|A|||| | ||
1.1331|9|17|11|1q41|RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2|P|RAB3 GTPase-activating protein, noncatalytic subunit||609275|R, REc, Fd|||Martsolf syndrome, 212720 (3); Warburg micro syndrome 2, 614225 (3)| | ||
1.1332|4|26|12|1q41|RMD1|C|Rippling muscle disease 1||600332|Fd, REc|||Rippling muscle disease-1 (2)| | ||
1.1333|8|19|13|1q41|RRP15|P|Ribosomal RNA-processing 15, S. cerevisiae, homolog of||611193|REc|||| | ||
1.1334|4|19|12|1q41|SLC30A10, ZNT10, HMDPC|P|Solute carrier family 30 (zinc transporter), member 10||611146|REc|||Hypermanganesemia with dystonia, polycythemia, and cirrhosis,|613280 (3) | ||
1.1335|5|23|07|1q41|SPATA17, MSRG11|P|Spermatogenesis-associated protein 17||611032|REc, H|||| | |1(Spata17)|
1.1336|9|14|12|1q41|TGFB2, LDS4|C|Transforming growth factor, beta-2||190220|REa, A, Fd|||Loeys-Dietz syndrome, type 4, 614816 (3)| | |1(Tgfb2)|
1.1337|12|5|13|1q41|TLR5, TIL3, SLEB1, MELIOS|C|Toll-like receptor-5||603031|A|||{Legionaire disease, susceptibility to}, 608556 (3); {Systemic|lupus erythematosus, resistance to}, 601744 (3); {Systemic lupus erythematosus, susceptibility to, 1}, 601744 (2); {Melioidosis, susceptibilty to}, 615557|(3) ||
1.1338|12|8|00|1q42.2|TSNAX, TRAX|C|Translin-associated factor X||602964|A, RE, H|||| | |8(Tsnax)|
1.1339|1|27|04|1q41|USH2A, RP39|C|Usherin||608400|Fd|||Usher syndrome, type 2A, 276901 (3); Retinitis pigmentosa 39, 613809|(3) | |1(Ush2a)|
1.1340|12|21|09|1q41-q42|AUTS11|P|Autism, susceptibility to, 11||610836|Fd|associated with rs12740310, rs3737296, and rs12310279||{Autism susceptibility 11} (2)| | ||
1.1341|9|22|08|1q41|CAPN2|P|Calpain, large polypeptide L2||114230|REa, REb|||| | ||
1.1342|5|22|07|1q42.13|CDC42BPA, PK428, MRCKA|P|CDC42-binding protein kinase alpha||603412|A|||| | ||
1.1343|1|31|11|1q41-q42|DEL1q41q42, C1DELq41q42|P|Chromosome 1q41-q42 deletion syndrome||612530|Ch|contiguous gene deletion of 1.7Mb||Chromosome 1q41-q42 deletion syndrome (4)| | ||
1.1344|8|9|99|1q41|EPRS, PARS|C|Glutamyl-prolyl-tRNA synthetase||138295|REa, A|||| | |1(Eprs)|
1.1345|5|12|99|1q42.13|GALNT2|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 2|602274|A|||| | ||
1.1346|1|29|13|1q42.13|GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C|P|Gap junction protein, gamma-2 (47kD)||608803|REc|||Leukodystrophy, hypomyelinating, 2, 608804 (3); Spastic|paraplegia 44, autosomal recessive, 613206 (3); Lymphedema, hereditary, IC, 613480 (3)| ||
1.1347|3|21|93|1q41|HLX1|C|H2.0 (Drosophilia)-like homeo box-1||142995|A, Fd|||| | |1(Hlx1)|
1.1348|4|16|98|1q42.11|NVL|C|Nuclear valosin-containing protein-like||602426|A, REa|||| | ||
1.1349|10|16|92|1q42.12|ITPKB|P|Inositol 1,4,5-trisphosphate 3-kinase B||147522|A|||| | ||
1.1350|12|19|11|1q43|CHRM3, EGBRS|P|Cholinergic receptor, muscarinic, 3||118494|A, REa|||Eagle-Barrett syndrome, 100100 (3)| | ||
1.1351|1|7|14|1q41-q44|OTSC10|P|Otosclerosis 10||615589|Fd|||Otosclerosis 10 (2)| | ||
1.1352|1|29|01|1q42.13|ABCB10, MTABC2|P|ATP-binding cassette, subfamily B, member 10||605454|REc|pseudogene on 15q13-q14||| | ||
1.1353|9|12|96|1q42.13|ARF1|P|ADP-ribosylation factor-1||103180|A|||| | ||
1.1354|10|6|09|1q42|BCC2|P|Basal cell carcinoma, susceptibility to, 2||613058|Fd|associated with rs801114||{Basal cell carcinoma, susceptibility to, 2} (2)| | ||
1.1355|7|17|09|1q42.2|CAPN9|P|Calpain 9||606401|R, REc|||| | ||
1.1356|3|3|03|1q41|DISPA|P|Dispatched, Drosophila, homolog of, A||607502|R|||| | ||
1.1357|2|21|06|1q42.12|DNAH14, HL18|P|Dynein, axonemal, heavy chain 14||603341|REc|||| | ||
1.1358|12|16|05|1q42|EA3|P|Episodic ataxia, type 3||606554|Fd|max lod at D1S235||Episodic ataxia, type 3 (2)| | ||
1.1359|5|31|05|1q42.2|GNPAT, DHAPAT|P|Glyceronephosphate O-acyltransferase||602744|TM|||Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)| | ||
1.1360|1|14|13|1q42.13|HIST3H2A|P|Histone gene cluster 3, H2A histone||615015|REc|||| | ||
1.1361|1|31|13|1q42.13|HIST3H2BB, H2Bb|P|Histone gene cluster 3, H2B histone family, member B||615046|REc|||| | ||
1.1362|3|11|03|1q42.13|HIST3H3, H3FT, H3T|P|Histone 3, H3||602820|REa, A|||| | ||
1.1363|8|8|91|1q42.13|HRES1|P|HTLV-1 related endogenous sequence||143025|REa, A|||| | ||
1.1364|4|10|00|1q42|MDC1B|P|Muscular dystrophy, congenital, 1B||604801|Fd|||Muscular dystrophy, congenital, 1B (2)| | ||
1.1365|9|7|10|1q41|MIA3, TANGO1, TANGO, KIAA0268|C|Melanoma inhibitory activity family, member 3||613455|REc, R|||| | ||
1.1366|9|2|12|1q42.2|MLK4, KIAA1804|C|Mixed-lineage kinase 4||614793|REc|||| | ||
1.1367|11|19|13|1q42.12|PARP1, ADPRT, PPOL, PARP|C|Poly(ADP-ribose) polymerase 1||173870|REa, A|?processed pseudogenes on chr.13 and 14||| | ||
1.1368|6|8|89|1q42|PEPC|C|Peptidase C||170000|S, R, Fd|1q25, 1q32 = conflicting localizations||| | |1(Pep3)|
1.1369|4|4|07|1q42.13|RHOU, WRCH1|P|Ras homolog gene family, member U||606366|R|||| | ||
1.1370|7|20|01|1q42.13|RNF16|P|RING finger protein-16||606123|REa, R|||| | |11(Rnf16)|
1.1371|2|1|01|1q41|TAF1A, RAFI48, SL1|C|TATA box-binding protein-associated factor 1A||604903|R, A|||| | ||
1.1372|5|26|13|1q42.2|TRIM67|P|Tripartite motif-containing protein 67||610584|REc|||| | ||
1.1373|10|10|01|1q42.13|WNT3A|P|Wingless-type MMTV integration site family, member 3A||606359|A|||| | ||
1.1374|10|10|01|1q42.13|WNT14|C|Wingless-type MMTV integration site family, member 14||602863|REc, A|||| | ||
1.1375|11|22|13|1q43|ACTN2, CMD1AA|C|Actinin, alpha-2||102573|REa, A, Fd|mutation identified in 1 family||?Cardiomyopathy, dilated, 1AA, 612158 (3)| | |13(Actn2)|
1.1376|10|4|05|1q42.2|AGT, SERPINA8|C|Angiotensinogen||106150|A, REa|||{Hypertension, essential, susceptibility to}, 145500 (3);|{Preeclampsia, susceptibility to} (3); Renal tubular dysgenesis, 267430 (3) | |8(Agt)|Jeunemaitre (1992)
1.1377|7|3|06|1q42.2|EGLN1, PHD2, HIFPH2, C1orf12, ZMYND6, SM20, ECYT3|C|Egl9, C. elegans, homolog of, 1||606425|R, REc, A|||Erythrocytosis, familial, 3, 609820 (3)| | ||
1.1378|7|17|01|1q43|EXO1, HEX1|P|Exonuclease 1, S. cerevisiae, homolog of||606063|A|||| | ||
1.1379|7|1|97|1q42.2|KCNK1, TWIK1|P|Potassium channel, subfamily K, member 1||601745|A|||| | ||
1.1380|4|18|05|1q43|LGALS8, PCTA1|P|Lectin, galactoside-binding, soluble, 8||606099|R|||| | ||
1.1381|10|12|90|1q42.13|RAB4, RAB4A|P|Oncogene RAB4||179511|A|||| | |1(Rab4a)|
1.1382|10|25|02|1q42.3|TBCE, KCS, KCS1, HRD|C|Tubulin-specific chaperone E||604934|Fd|||Kenny-Caffey syndrome-1, 244460 (3);|Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3) | ||
1.1383|5|4|00|1q42.3|TM7SF1|P|Transmembrane 7 superfamily, member 1||604658|REa, A|||| | ||
1.1384|7|17|09|1q42.12|ACBD3, GOCAP1, GOLPH1, GCP60|P|Acyl-Coenzyme A binding domain containing 3||606809|R, REc|||| | ||
1.1385|8|2|13|1q42.13|ACTA1, ASMA, NEM3, CFTD1|C|Actin, alpha-1, skeletal muscle||102610|REa, H, A|||Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3);|Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3); Myopathy, actin, congenital, with cores, 161800 (3);|Myopathy, congenital, with fiber-type disproportion 1, 255310 (3) |8(Actsk1)|
1.1386|5|12|06|1q42.2|DISC1, SCZD9|C|Disrupted in schizophrenia 1||605210|Ch, H, RE|||{Schizophrenia, susceptibility to}, 604906 (3); {Schizoaffective|disorder, susceptibility to}, 181500 (3) | |8(Disc1)|
1.1387|9|20|01|1q42.2|DISC2|P|Disrupted in schizophrenia 2||606271|Ch|noncoding antisense RAN||Schizophrenia, 181500 (2)| | ||
1.1388|4|21|99|1q42.12|EBAF, TGFB4, LEFTY2, LEFTA, LEFTYA|C|Transforming growth factor, beta-4 (endometrial bleeding-associated|factor)|601877|A|||Left-right axis malformations (3)| | |1(lefty2)|
1.1389|6|8|05|1q42.12|EPHX1|C|Epoxide hydroxylase 1, microsomal xenobiotic||132810|REa, A|||?Fetal hydantoin syndrome (1); Diphenylhydantoin toxicity (1);|Hypercholanemia, familial, 607748 (3); {Preeclampsia, susceptibility to}, 189800 (3)| |1(Eph1)|
1.1390|8|16|11|1q43|FH, HLRCC, MCUL1|C|Fumarate hydratase||136850|S, R, D, Psh|||Fumarase deficiency, 606812 (3);|Leiomyomatosis and renal cell cancer, 150800 (3) | ||
1.1391|8|17|10|1q42.12|LBR, PHA|C|Lamin B receptor||600024|A, Fd|||Pelger-Huet anomaly, 169400 (3); HEM skeletal dysplasia, 215140 (3);|Reynolds syndrome, 613471 (3) | ||
1.1392|4|21|99|1q42.12|LEFTB, LEFTY1|P|Left-right determination, factor B||603037|REn|||| | |1(lefty1)|
1.1393|3|20|06|1q42.12|MIXL1, MIXL, MIX|C|MIX1 homeobox-like protein 1||609852|R, A, H|||| | |1(Mixl1)|
1.1394|6|4|98|1q41|TP53BP2, ASPP2|P|Tumor protein p53-binding protein-2||602143|A|||| | ||
1.1395|5|9|02|1q42.3|CHS1, LYST|C|Lysosomal trafficking regulator||606897|Fd|||Chediak-Higashi syndrome, 214500 (3)| | |13(Lyst, bg)|
1.1396|12|28|08|1q42.3|ARID4B, SAP180, RBP1L1, RBBP1L1, BRCAA1|P|AT-rich interactive domain-containing protein 4B||609696|REc, A|||| | ||
1.1397|7|20|06|1q43|RYR2, VTSIP, ARVD2, ARVC2|C|Ryanodine receptor-2 (cardiac)||180902|REa, A, Fd|||Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772|(3); Arrhythmogenic right ventricular dysplasia 2, 600996 (3) | |13(Ryr2)|
1.1398|10|15|91|1q42.11-q42.13|RN5S1@|C|RNA, 5S cluster 1||180420|A|25-30% at 1q31 (RN5S3@)||| | ||
1.1399|9|9|08|1q42.11|FBXO28, FBX28, KIAA0483|P|F-box only protein 28||609100|REc|||| | |1(Fbxo28)|
1.1400|6|13|12|1q42.12|ENAH, ENA, MENA, NDPP1|P|Enabled, Drosophila, homolog of||609061|REc|||| | |1(Enah)|
1.1401|8|21|13|1q42.13|IBA57, C1orf69, MMDS3|P|IBA57, S. cerevisiae, homolog of||615316|REc|1 family identified with mutation||?Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)| | ||
1.1402|3|11|08|1q42.13|MRPL55|P|Mitochondrial ribosomal protein L55||611859|REc|||| | ||
1.1403|7|17|09|1q42.13|NUP133|P|Nucleoporin, 133kD||607613|R, REc|||| | ||
1.1404|2|22|11|1q42.13|RNF186, RACO1|P|Ring finger protein 187||613754|REc|||| | ||
1.1405|12|18|07|1q42.2|ARV1|P|ARV1, S. cerevisiae, homolog of||611647|R, REc|||| | ||
1.1406|8|21|12|1q42.2|C1orf31|P|Chromosome 1 open reading frame 31||614772|REc|||| | ||
1.1407|5|24|12|1q42.13|CABC1, COQ8, ADCK3, SCAR9, ARCA2, COQ10D4|C|Chaperone-activity of BC1 complex-like||606980|R, REc, Fd|||Coenzyme Q10 deficiency, primary, 4, 612016 (3)| | ||
1.1408|7|17|09|1q42.2|COG2, LDLC|P|Component of oligomeric golgi complex 2||606974|R, REc|||| | ||
1.1409|7|1|13|1q42.2|EXOC8, EXO84, SEC84|P|Exocyst complex component 8||615283|REc|||| | ||
1.1410|2|19|08|1q42.2|SIPA1L2, KIAA1389|P|SIPA1-like protein 2||611609|R, REc|||| | ||
1.1411|12|17|12|1q42-q43|EDARADD, ED3, EDA3, ECTD11B, ECTD11A|C|EDAR-associated death domain||606603|REc|||Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal|recessive, 614941 (3); Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940 (3)| |13(Edaradd)|
1.1412|10|8|98|1q42.2-q43|PCAP|P|Predisposing for prostate cancer||602759|Fd|||{Prostate cancer, susceptibility to}, 176807 (2)| | ||
1.1413|1|5|07|1q42.2-q43|SHFL1, SHFLD|P|Split-hand/foot malformation with long bone deficiency 1||119100|Fd|between rs1124110 and rs535043||Split-hand/foot malformation with long bone deficiency 1 (2)| | ||
1.1414|10|7|13|1q42.3|ERO1LB|P|Endoplasmic reticulum oxidoreduction 1-like beta||615437|REc|||| | |13(Ero1l)|
1.1415|4|23|13|1q42.3|G3GALNT2, MGC39558, MDDGA11|P|Beta-1,3-N-acetylgalactosaminyltransferase 2||610194|REc|||Muscular dystrophy-dystroglycanopathy (congenital with brain and|eye anomalies, type A, 11, 615181 (3) | ||
1.1416|5|25|13|1q42.3|GNG4|P|Guanine nucleotide-binding protein, gamma 4||604388|REc|||| | ||
1.1417|7|23|13|1q42.3|IRF2BP2|P|Interferon regulatory factor 2-binding protein 2||615332|REc|||| | ||
1.1418|9|18|08|1q42.2|TARBP1, TRP185|P|TAR RNA-binding protein 1||605052|R, REc|||| | ||
1.1419|2|21|02|1q43|CHML, REP2|C|Choroideremia-like||118825|REa, REc|||| | ||
1.1420|5|28|02|1q42.3|GGPS1, GGPPS1|P|Geranylgeranyl diphosphate synthase 1||606982|A|||| | ||
1.1421|9|12|08|1q43|GREM2, PRDC|P|Gremlin 2 homolog, cystine knot superfamily||608832|REc|||| | ||
1.1422|2|21|02|1q43|KMO|P|Kynurenine 3-monooxygenase||603538|REc|||| | ||
1.1423|7|12|13|1q43|MTR, HMAG|C|5-methyltetrahydrofolate-homocysteine methyltransferase 1||156570|S, A|||Homocystinuria-megaloblastic anemia, cblG complementation type,|250940 (3); {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)| |13(Mtr)|
1.1424|6|8|89|1q42.3|NID|P|Nidogen||131390|A|||| | ||
1.1425|2|18|02|1q43|OPN3, ECPN|P|Opsin 3||606695|Psh, A|||| | ||
1.1426|4|20|11|1q43|RGS7|C|Regulator of G protein signaling 7||602517|REc|||| | |1(Rgs7)|
1.1427|12|15|10|1q43|ZP4, ZPB|P|Zona pellucida glycoprotein 4||613514|REc|||| | ||
1.1428|1|14|13|1q43-q44|DEL1q43q44, C1DELq43q44|P|Chromosome 1q43-q44 deletion syndrome||612337|Ch|contiguous gene deletion syndrome||Chromosome 1q43-q44 deletion syndrome (4)| | ||
1.1429|12|4|08|1q43-q44|DFNB45|P|Deafness, autosomal recessive 45||612433|Fd|between D1S547 and D1S2836||Deafness, autosomal recessive 45 (2)| | ||
1.1430|5|4|12|1q43|SDCCAG8, CCCAP SLSN7|P|Serologically defined colon cancer antigen 8||613524|REc|||Senior-Loken syndrome 7, 613615 (3)| | ||
1.1431|3|15|07|1q44|AHCTF1, ELYS|P|AT hook containing transcription factor 1||610853|REc|||| | ||
1.1432|11|29|12|1q43-q44|AKT3, PKBG, MPPH|P|v-Akt murine thymoma viral oncogene homolog 3||611223|A|||Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome,|603387 (3) | |1(Akt3)|
1.1433|9|21|09|1q43|CEP170, KIAA0470|P|Centrosomal protein, 170kD||613023|R, REc|||| | ||
1.1434|9|7|10|1q44|CNST|P|Consortin||613439|REc|||| | ||
1.1435|7|18|12|1q44|COX20, FAM36A|P|Cytochrome c oxidase 20, S. cerevisiae, homolog of||614698|REc|||| | ||
1.1436|9|8|11|1q44|KIF26B|P|Kinesin family member 26B||614026|REc|||| | ||
1.1437|3|4|10|1q44|NLRP3, CIAS1, FCU, FCAS, NALP3, PYPAF1|C|NLR family, pyrin domain containing 3||606416|REn, Fd|||Cold-induced autoinflammatory syndrome, familial, 120100 (3);|Muckle-Wells syndrome, 191900 (3); CINCA syndrome, 607115 (3) | ||
1.1438|12|17|07|1q44|OR13G1|P|Olfactory receptor, family 13, subfamily G, member 1||611677|REc|||| | ||
1.1439|3|23|93|1q44|ZNF124|P|Zinc finger protein-124 (HZF-16)||194631|A|||| | ||
1.1440|11|22|13|1q44|ZBTB18, ZNF238, RP58, MRD22|C|Zinc finger and BTB domain containing 18||608433|A, REc, Psh|mutation identified in 1 family||?Mental retardation, autosomal dominant 22, 612337 (3)| | ||
1.1441|4|19|11|1q44|ZNF496, NIZP1, ZFP496|P|Zinc finger protein 496||613911|REc|||| | |11(Znf496)|
1.1442|11|3|11|Chr.1|SPGF2, ASG|P|Spermatogenic failure 2||108420|Ch|inversion of chromosome 1||Spermatogenic failure 2 (2)| | ||
2.1|7|22|13|2pter-p24|CTRCT29|P|Cataract 29, coralliform||115800|Fd|between D2S297 and D2S2269||Cataract 29, coralliform (2)| | ||
2.2|6|14|10|2p25.3|ADI1, SIPL|P|Acireductone dioxygenase 1||613400|REc|||| | ||
2.3|5|4|12|2p25.3|COLEC11, CLK1, 3MC2|P|Collectin 11||612502|REc|||3MC syndrome 2, 265050 (3)| | ||
2.4|7|22|09|2p25.3|PXDN, D2S448E, KIAA0230, PRG2, PXN|C|Peroxidasin, Drosophila, homolog of||605158|REa, R, A|||| | ||
2.5|2|19|10|2p25.3|TMEM18|P|Transmembrane protein 18||613220|REc|||| | ||
2.6|8|31|12|2p25.3|TRAPPC12, TTC15|P|Trafficking protein particle complex, subunit 12||614139|REc|||| | ||
2.7|2|12|08|2p25.2|CMPK2|P|Cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial||611787|REc|||| | ||
2.8|8|27|09|2p25.1|ITGB1BP1, ICAP1, ICAP1A, ICAP1B|P|Integrin cytoplasmic domain-associated protein 1 beta||607153|R, REc|||| | ||
2.9|12|28|08|2p25.2|RSAD2, VIPERIN|P|Radical S-adenosyl methionine domain containing 2||607810|R, REc|||| | ||
2.10|11|4|04|2p25.3|TSSC1|C|Tumor-suppressing subtransferable fragment candidate gene 1||608998|REc, H|previously assigned to 11p15.5||| | |12(Tssc1)|
2.11|12|23|05|2p25.1|GRHL1, LBP32, MGR|P|Grainyhead-like 1||609786|R, REc|||| | ||
2.12|1|22|08|2p25.1|GREB1|P|GREB1 protein||611736|R, REc|||| | ||
2.13|7|17|09|2p25.1|HPCAL1|P|Hippocalcin-like 1||600207|REa, REc|||| | ||
2.14|10|13|09|2p25.1|MBOAT2, LPCAT4|P|Membrane-bound O-acyltransferase domain-containing 2||611949|R, REc|||| | ||
2.15|8|6|13|2p25.1|NTSR2|P|Neurotensin receptor 2||605538|REc|||| | ||
2.16|6|12|12|2p25.1|TYHAQ|P|Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation|protein, theta isoform|609009|REa, REc|pseudogene on chr.22||| | ||
2.17|3|14|06|2p25.1-p24.3|DFNB47|P|Deafness, neurosensory, autosomal recessive 47||609946|Fd|max lod at D2S1400 and D2S262||Deafness, neurosensory, autosomal recessive 47 (2)| | ||
2.18|7|7|89|2p25.3|ACP1|C|Acid phosphatase 1, soluble||171500|D, S, A|||| | |12(Acp1)|
2.19|11|3|11|2p25.1|ADAM17, TACE, NISBD|P|A disintegrin and metalloproteinase domain 17||603639|R|||Inflammatory skin and bowel disease, neonatal, 614328 (3)| | |12(Tace)|
2.20|12|18|08|2p25|ALLC|P|Allantoicase||612396|Psh, REc|nonfunctional in humans||| | ||
2.21|1|15|96|2p25.1|ID2|P|Inhibitor of DNA binding 2, dominant negative||600386|REa, A|||| | ||
2.22|8|27|09|2p23.3|ITSN2, SH3D1B, SWAP, KIAA1256|P|Intersectin 2||604464|REc|||| | ||
2.23|5|21|99|2p25.1|KCNF1, KH1|P|Potassium voltage-gated channel, subfamily F, member 1||603787|A|||| | ||
2.24|11|30|06|2p25.1|KLF11, TIEG2, FKLF1, FKLF, MODY7|P|Kruppel-like factor 11||603301|Psh|||Maturity-onset diabetes of the young, type VII, 610508 (3)| | ||
2.25|5|27|05|2p25.1|ODC1|C|Ornithine decarboxylase-1||165640|REa, A|pseudogene ODCP on 7q31-qter||{Colonic adenoma recurrence, reduced risk of}, 114500 (3)| | |12(Odc)|
2.26|10|11|05|2p25|PEE2|P|Preeclampsia/eclampsia 2||609402|Fd|||Preeclampsia/eclampsia 2 (2)| | ||
2.27|6|10|02|2p25.3|RNASEH1|C|Ribonuclease H1||604123|Psh|pseudogenes on chr. 17 and chr.1||| | |12(Rnaseh1)|
2.28|2|4|09|2p25.3|RPS7, DBA8|C|Ribosomal protein S7||603658|A|||Diamond-Blackfan anemia 8, 612563 (3)| | ||
2.29|11|5|95|2p25.2|SOX11|P|SRY (sex-determining region Y)-box 11||600898|A|||| | ||
2.30|2|1|01|2p25.1|RAF1B, RAFI63, SL1|C|TATA box-binding protein-associated factor 1B||604904|R, A|||| | ||
2.31|7|11|11|2p23.3|SAP14, SF3B14, P14|P|Spliceosome-associated protein, 14kD||607835|REc|||| | ||
2.32|5|12|09|2p23.3|SUPT7L, SUPT7H, SPT7l, KIAA0764, STAF65G|P|Suppressor of TY 7-like||612762|R, REc|||| | ||
2.33|9|29|09|2p25.3|TPO, TPX, TDH2A|C|Thyroid peroxidase||606765|REa, A, Fd|||Thyroid dyshormonogenesis 2A, 274500 (3)| | |12(Tpo)|
2.34|5|19|06|2p25-p22|ETM2, ETM|P|Tremor, hereditary essential, 2||602134|Fd|max lod at D2S272||Tremor, hereditary essential, 2 (2)| | ||
2.35|6|10|03|2p25-p24|HYT3|P|Hypertension, essential, susceptibility to, 3||607329|Fd|||{Hypertension, essential, susceptibility to, 3}, 145500 (2)| | ||
2.36|8|22|07|2p25.1|PDIA6, ERP5|P|Protein disulfide isomerase, family A, member 6||611099|A|||| | ||
2.37|4|10|90|2p25.1|RRM2|P|Ribonucleotide reductase, M2 polypeptide||180390|REa, A|pseudogenes on 1p, 1q, Xp||| | |12(Rrm2)|
2.38|7|27|09|2p25-p12|PPKP3|L|Keratoderma, palmoplantar, punctate type III||101850|Fd|max lod at ACP1 and IGKC||?Keratoderma, palmoplantar, punctate type 3 (2)| | ||
2.39|12|24|08|2p24.2|GEN1|P|GEN1, Drosophila, homolog of||612449|REc|||| | ||
2.40|8|29|08|2p24.2|MSGN1|P|Mesogenin 1||612209|REc|||| | ||
2.41|5|24|13|2p24.2|NT5C1B, CN1B, AIRP|P|5'-nucleotidase, cytosolic, Ib||610526|REc, R|||| | ||
2.42|10|4|05|2p24.2|SMC6L1, SMC6|P|Structural maintenance of chromosomes 6-like 1||609387|R, REc|||| | ||
2.43|5|19|06|2p24.1|HS1BP3, FLJ14249, ETM2|C|HS1-binding protein 3||609359|REc|||| | ||
2.44|7|21|11|2p24.3|MYCN, NMYC, ODED, MODED|C|Oncogene NMYC||164840|REa, A, Fd|proximal to APOB||Feingold syndrome, 164280 (3)| | |12(Nmyc1)|
2.45|8|27|09|2p24.3|MYCNOS, NCYM|P|Oncogene NCYM, opposite strand||605374|R, REc|||| | ||
2.46|8|3|12|2p24.1|RHOB, ARHB, ARH6, RHOH6|P|RAS homolog gene family, member B (oncogene RHO H6)||165370|REa, A|||| | ||
2.47|6|29|94|2p24.1|SDC1|C|Syndecan 1||186355|REa, H|close to NMYC in mouse||| | |12(Synd1)|
2.48|7|22|11|2p24.1|WDR35, NAOFEN, KIAA1336, CED2|P|WD repeat-containing protein 35||613602|REc|||Cranioectodermal dysplasia 2, 613610 (3); Short rib-polydactyly|syndrome, type V, 614091 (3) | ||
2.49|11|1|10|2p23.3|ZNF513, RP58|P|Zinc finger protein 513||613598|REc|||Retinitis pigmentosa 58, 613617 (3)| | ||
2.50|8|2|13|2p24.1-p23.3|ATAD2B, KIAA1240|P|ATPase family, AAA domain-containing, member 2B||615347|R, REc|||| | ||
2.51|7|8|10|2p23.2|C2orf71|P|Chromosome 2 open reading frame 71||613425|REc|||Retinitis pigmentosa 54, 613428 (3)| | ||
2.52|12|9|13|2p24.1|APOB, FLDB, LDLCQ4|C|Apolipoprotein B (including Ag(x) antigen)||107730|REa, A|1 gene for liver apo-B100 and gut apo-B48; Ag linked||Hypobetalipoproteinemia, 615558 (3);|Hypercholesterolemia, due to ligand-defective apo B, 144010 (3) | |12(Apob)|
2.53|3|8|07|2p24-p22|CLQTL2|P|Cholesterol level quantitative trait locus 2||610760|Fd|max lod at D2S1360||[Cholesterol level QTL 2] (2)| | ||
2.54|5|24|01|2p25.1|DDEF2, PAP|C|Development- and differentiation-enhancing factor 2||603817|R|||| | ||
2.55|5|13|96|2p24.3|DDX1|P|DEAD/H box-1||601257||||| | ||
2.56|1|3|06|2p24|GEFSP4|P|Generalized epilepsy with febrile seizures plus, type 4||609800|Fd|max lod at D2S305||Epilepsy, generalized, with febrile seizures plus, type 4 (2)| | ||
2.57|6|15|99|2p24.2|KCNS3, KV9.3|P|Potassium voltate-gated channel, delayed-rectifier, subfamily S,|member 3|603888|REc|||| | ||
2.58|2|23|05|2p24|KTCN4|P|Keratoconus 4||609271|Fd|between D2S305 and D2S2373||Keratoconus 4 (2)| | ||
2.59|10|13|09|2p25.3|MYT1L, KIAA1106|P|Myelin transcription factor 1-like||613084|Psh, H|||| | |12(Myt1l)|
2.60|9|7|04|2p24.1|ODD, OSR1|P|ODD-skipped, Drosophila, homolog of||608891|REc|||| | ||
2.61|3|9|00|2p25.1|ROCK2|P|RHO-associated coiled-coil-containing protein kinase 2||604002|R, A|||| | ||
2.62|6|9|06|2p11.2|VPS24, CHMP3, NEDF|P|Vacuolar protein sorting 24, yeast, homolog of||610052|R, REc|||| | ||
2.63|7|17|01|2p24.1|GDF7|P|Growth/differentiation factor 7||604651|A|||| | ||
2.64|4|15|09|2p24.1|MATN3, EDM5, HOA, OS2|C|Matrilin 3||602109|A, Fd|||Epiphyseal dysplasia, multiple, 5, 607078 (3); {Osteoarthritis|susceptibility 2}, 140600 (3); Spondyloepimetaphyseal dysplasia, 608728 (3)| |12(Matn3)|
2.65|9|5|12|2p24.3|NBAS, NAG, SOPH|P|Neuroblastoma-amplified sequence||608025|A|||Short stature, optic nerve atrophy, and Pelger-Huet anomaly,|614800 (3) | ||
2.66|10|13|05|2p23.3|TCF23|P|Transcription factor 23||609635|REc|||| | |5(Tcf23)|
2.67|1|11|95|2p23.3|ADCY3|C|Adenylate cyclase-3||600291|REa, A|||| | ||
2.68|6|3|98|2p23.3|CENPA|C|Centromere protein A, 17kD||117139|R, Psh|||| | |5(Cenpa)|
2.69|8|29|08|2p23.3|ABHD1, LABH1|P|Abhydrolase domain-containing 1||612195|REc|||| | |5(Abhd1)|
2.70|9|2|09|2p23.3|ASXL2, KIAA1685|P|Additional sex combs-like 2||612991|REc|||| | ||
2.71|10|08|07|2p23.3|CENPO|P|Centromeric protein O||611504|R, REc|||| | ||
2.72|5|23|11|2p23.3|DNAJC5G|P|DNAJ/HSP40 homolog, subfamily C, member 5, gamma||613946|REc|||| | ||
2.73|8|17|10|2p23.3|DNAJC27, RBJ|P|DNAJ/HSP40 homolog, subfmaily C, member 27||613527|REc|||| | ||
2.74|1|27|04|2p23.3|DPYSL5, CRMP5, CRAM|P|Dihydropyrimidinase-like 5||608383|R, REc|||| | |5(Dpysl5)|
2.75|7|12|13|2p23.3|DRC1, CCDC164, C2orf39, CILD21|P|Dynein regulatory complex, subunit 1, Chlamydomonas, homolog of||615288|REc|||Ciliary dyskinesia, primary, 21, 615294 (3)| | ||
2.76|10|29|03|2p23.3|EIF2B4|P|Eukaryotic translation initiation factor 2B, subunit 4||606687|R|||Leukoencephaly with vanishing white matter, 603896 (3);|Ovarioleukodystrophy, 603896 (3) | ||
2.77|8|27|09|2p23.3|FKBP1B, PKBP1L|P|FK506-binding protein 1B||600620|R, REc|||| | ||
2.78|3|20|08|2p23.3|FNDC4, FRCP1|P|Fibrinectin type III domain-containing protein 4||611905|R, REc, H|||| | |5(Fndc4)|
2.79|8|27|09|2p23.3|IFT172, SLB, KIAA1179|P|Intraflagellar transport 172, Chlamydomonas, homolog of||607386|R, REc|||| | ||
2.80|1|7|09|2p23.3|POMC|C|Proopiomelanocortin (adrenocorticotropin/beta-lipotropin)||176830|REa, A|||Obesity, adrenal insufficiency, and red hair due to POMC deficiency,|609734 (3); {Obesity, early-onset, susceptibility to}, 601665 (3) | |12(Pomc1)|
2.81|3|31|09|2p23.3|RAB10|P|Ras-associated protein||612672|REc|||| | ||
2.82|2|25|08|2p23.3|SLC30A3, ZNT3|P|Solute carrier family 30 (zinc transporter), member 3||602878|REc|||| | |5(Slc30a3)|
2.83|8|3|12|2p23.3|TP53I3, PIG3|P|Tumor protein p53-inducible protein 3||605171|REc|||| | ||
2.84|10|13|09|2p23.3|XAB1, MBDIN|P|XPA-binding protein||611479|REc|||| | ||
2.85|8|27|09|2p23.3|EMILIN1, EMILIN|P|Elastin microfibril interfacer 1||130660|REc|||| | ||
2.86|11|1|10|2p23.3|GCKR, GKRP, FGQTL5|C|Glucokinase (hexokinase 4) regulatory protein||600842|A, Fd, REc|||[Fasting plasma glucose level QTL 5], 613463 (3)| | ||
2.87|6|23|11|2p23.3|KHK|P|Ketohexokinase (fructokinase)||614058|A, Fd, REc, Psh|||[Fructosuria], 229800 (3)| | ||
2.88|8|27|09|2p23.3-p23.2|SLC4A1AP|P|Solute carrier family 4 (anion exchanger), member 1, adaptor protein||602655|REc|||| | ||
2.89|8|27|01|2p23.3|MAPRE3, EB3, RP3, EBF3|C|Microtubule-associated protein, RP/EB family, member 3||605788|A, R|||| | ||
2.90|3|14|06|2p23.3-p22.3|GINGF3, HGF3, GGF3|P|Fibromatosis, gingival, 3||609955|Fd|between D2S2221 and D2S1788||Fibromatosis, gingival, 3 (2)| | ||
2.91|10|13|13|2p23.2|BRE, BRCC4, BRCC45|P|Brain and reproductive organ-expressed protein||610497|REc, R|||| | ||
2.92|8|31|11|2p23.2|FOSL2|P|FOS-like antigen-2||601575|A|||| | ||
2.93|1|27|04|2p23.1|GALNT14|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 14|608225|REc|||| | ||
2.94|6|16|06|2p23.2|PLB1, PLB, FLJ30866|P|Phospholipase B1||610179|R, REc|||| | ||
2.95|9|10|07|2p23.2|RBKS|P|Ribokinase||611132|REc|||| | ||
2.96|9|8|11|2p23.2|SPDYA, SPY1, RINGOA|P|Speedy, xenopus, homolog of, A||614029|REc|||| | ||
2.97|1|31|08|2p23.1|LBH|P|Limb bud and heart development, mouse, homolog of||611763|R, REc|||| | ||
2.98|9|28|11|2p23.1|LCLAT1, ALCAT1, AGPAT8|P|Lysocardiolipin acyltransferase 1||614241|REc|||| | |17(Lclat1)|
2.99|12|28|08|2p23.1|YPEL5|P|Yippee-like 5||609726|REc|||| | |17(Ypel5)|
2.100|9|24|08|2q32.1|DNAJC10, ERDJ5, JPDI|P|DNAJ/HSP40 homolog, subfamily C, member 10||607987|REc|||| | ||
2.101|9|22|09|2p23.2-p23.1|ALK, NBLST3|C|Anaplastic lymphoma kinase (Ki-1)||105590|Ch, H|||{Neuroblastoma, susceptibility to, 3}, 613014 (3)| | |17(Alk)|
2.102|11|22|99|2p23.3|DNMT3A|P|DNA methyltransferase 3A||602769|A|||| | ||
2.103|3|19|08|2p23.3|HADHA, MTPA|C|Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/|enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit|600890|A|||LCHAD deficiency, 609016 (3); Trifunctional protein deficiency,|609015 (3); HELLP syndrome, maternal, of pregnancy, 609016 (3); Fatty liver, acute, of pregnancy, 609016 (3)| ||
2.104|3|19|08|2p23.3|HADHB|C|Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase|/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit|143450|A|||Trifunctional protein deficiency, 609015 (3)| | ||
2.105|8|2|13|2p23.3|KCNK3, TASK, PPH4|P|Potassium channel, subfamily K, member 3||603220|R|||Pulmonary hypertension, primary, 4, 615344 (3)| | |5(Kcnk3)|
2.106|11|20|98|2p23.3|KIF3C|P|Kinesin family member 3C||602845|A|||| | |12(Kif3c)|
2.107|12|29|99|2p23.3|NCOA1, SRC1|P|Nuclear receptor coactivator 1||602691|A|||| | ||
2.108|6|18|01|2p23.3|NRBP|P|Nuclear receptor-binding protein||606010|A|||| | ||
2.109|6|16|95|2p23.2|PPP1CB|P|Protein phosphatase-1, catalytic subunit, beta isoform||600590|REa, A|||| | |12(Ppp1cb)|
2.110|11|28|01|2p23.3|PREB|P|Prolactin regulatory element-binding protein||606395|A|||| | |5(Preb)|
2.111|10|21|02|2p23.1|SRD5A2|C|Steroid-5-alpha-reductase, alpha polypeptide-2 (3-oxo-5 alpha-steroid|delta 4-dehydrogenase alpha-2)|607306|REa, A|||Pseudovaginal perineoscrotal hypospadias, 264600 (3)| | ||Andersson (1991); Thigpen (1992)
2.112|8|17|99|2p23.3|DTNB|P|Dystrobrevin, beta||602415|A|||| | |12(Dtnb)|
2.113|8|4|09|2p23.3|OTOF, DFNB9, NSRD9, AUNB1|C|Otoferlin||603681|Fd, REc|symbolized DFNB6 by authors||Deafness, autosomal recessive 9, 601071 (3); Auditory neuropathy,|autosomal recessive, 1, 601071 (3) | ||
2.114|8|17|98|2p22.1|SLC8A1, NCX1|C|Solute carrier family 8, member 1 (sodium-calcium exchanger-1)||182305|REa, A|||| | ||
2.115|4|18|05|2p23.3|SNX17|P|Sorting nexin 17||605963|R, REc|||| | ||
2.116|3|18|03|2p23.1|XDH|C|Xanthine dehydrogenase (xanthine oxidase)||607633|REb, A|||Xanthinuria, type I, 278300 (3)| | |17(Xd)|
2.117|12|27|10|2p23.3|MPV17, MTDPS6|P|Mpv17 transgene, mouse, glomerulosclerosis, homolog of||137960|REa, A|||Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810|(3) | |5(Mpv17)|
2.118|3|18|08|2p23.3|UCN, UROC|P|Urocortin||600945|REa, REc|||| | ||
2.119|5|16|05|2p22.2-p22.1|ARL3IP2, ATL2|P|ADP-ribosylation-like factor 6-interacting protein 2 (atlastin 2)||609368|REc|||| | ||
2.120|6|9|08|2p22.3|DPY30|P|DPY30, C. elegans, homolog of||612032|REc|||| | ||
2.121|4|26|10|2p22.3-p21|CANDF1, CMCT|P|Candidiasis, familial, 1||114580|Fd|between D2S367 and D2S2240||Candidiasis, familial, 1, autosomal dominant (2)| | ||
2.122|7|16|09|2p22.2|CEBPZ, CBF, NOC1|P|CCAAT/enhancer-binding protein, zeta||612828|REc|||| | ||
2.123|9|23|08|2p22.2|FAM82A1, FAM82A, RMD2|P|Family with sequence similarity 82, member A1||611872|REc|||| | ||
2.124|8|27|09|2p22.2|QPCT, QC|P|Glutaminyl-peptide cyclotransferase||607065|R, REc|||| | ||
2.125|9|17|11|2p22.1-p21|HNFJ3|P|Hyperuricemic nephropathy, familial juvenile, 3||614227|Fd|between rs372139 and rs896986||Hyperuricemic nephropathy, familial juvenile, 3 (2)| | ||
2.126|5|26|13|2p22.1|HNRNPLL, HNRPLL, SRRF|P|Heterogeneous nuclear ribonucleoprotein L-like||611208|REc|||| | ||
2.127|8|21|12|2p22.2|STRN|P|Striatin, calmodulin-binding protein||614765|REc, A|||| | ||
2.128|1|7|09|2p22.3|BIRC6, KIAA1289|P|Baculoviral IAP repeat-containing protein-6||605638|R, REc|||| | ||
2.129|9|25|02|2p22.3|CARD12, CLAN, IPAF|P|Caspase recruitment domain-containing protein 12||606831|REc|||| | ||
2.130|8|28|01|2p22.3-p22.2|CRIM1|P|Cysteine-rich motor neuron protein 1||606189|R, A|||| | ||
2.131|10|24|12|2p22.2|CYP1B1, GLC3A|C|Cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1||601771|REa, REn, A, Fd|||Glaucoma 3A, primary open angle, congenital, juvenile, or adult|onset, 231300 (3); Peters anomaly, 604229 (3) | ||
2.132|1|2|03|2p21|EML4, ROPP120|P|Echinoderm microtubule associated protein like-4||607442|R, A|||| | ||
2.133|2|12|08|2p23.1-p22.3|MEMO1, MEMO, C2orf4|P|Mediator of cell motility 1||611786|REc|||| | ||
2.134|1|16|08|2p21|MSH2, COCA1, FCC1, HNPCC1|C|mutS, E. coli, homolog of, 2||609309|Fd, REa, Ch|||Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3);|Muir-Torre syndrome, 158320 (3); Mismatch repair cancer syndrome, 276300 (3) | ||
2.135|8|27|09|2p24.1|PUM2, KIAA0235|P|Pumilio, Drosophila, homolog of, 2||607205|REa, REc|||| | ||
2.136|12|19|11|2p22.1|SRSF7, SFRS7|P|Splicing factor, arginine/serine-rich 7, 35kD||600572|A|||| | ||
2.137|2|25|08|2p22.3|SLC30A6, ZNT6|P|Solute carrier family 30 (zinc transporter), member 6||611148|REc, H|||| | |17(Slc30a6)|
2.138|11|30|10|2p22.1|SOS1, GINGF, GF1, HGF, NS4|C|Son of sevenless, Drosophila, homolog of, 1||182530|A, Fd, REc|||Fibromatosis, gingival, 135300 (3); Noonan syndrome 4, 610733 (3)| | |17(Sos1)|
2.139|4|27|12|2p22.3|SPAST, SPG4|C|Spastin||604277|Fd|||Spastic paraplegia 4, autosomal dominant, 182601 (3)| | ||
2.140|1|28|08|2p22.1|THUMPD2, C2orf8|P|THUMP domain-containing 2||611751|A|||| | ||
2.141|7|12|92|2p16.3|HTLF|P|Human T-cell leukemia virus enhancer factor||143089|REa, A|||| | ||
2.142|10|23|87|2p22-p11|GLAT|P|Galactose enzyme activator||137030|S|||| | ||
2.143|12|8|00|2p21|ABCG5|P|ATP-binding cassette, subfamily G, member 5||605459|REc|||Sitosterolemia, 210250 (3)| | ||
2.144|1|14|09|2p21|ABCG8, GBD4|P|ATP-binding cassette, subfamily G, member 8||605460|REc|||Sitosterolemia, 210250 (3); Gallbladder disease 4, 611465 (3)| | ||
2.145|11|7|89|2p23.3|CAD|P|CAD trifunctional protein of pyrimidine biosynthesis||114010|REa, A, S, D|proximal to 21.01||| | ||
2.146|7|10|93|2p21|CALM2|P|Calmodulin-2||114182|Psh, A|||| | ||
2.147|6|4|13|2p21|CAMKMT, C2orf34|P|Calmodulin lysine N-methyltransferase||609559|REc|||| | ||
2.148|8|27|09|2p22.2|CDC42EP3, CEP3, BORG2|P|CDC42 effector protein 3||606133|R, REc|||| | ||
2.149|8|27|09|2p21|COX7A2L, COX7RP, EB1|P|Cytochrome c oxidase subunit VIIA, polypeptide 2-like||605771|R, REc|||| | ||
2.150|4|21|10|2p21|DEL2p21, C2DELp21|P|Homozygous 2p21 deletion syndrome||606407|Ch|contiguous gene syndrome disrupting SLC3A1 and PREPL genes||Hypotonia-cystinuria syndrome (4)| | ||
2.151|5|2|01|2p23.1|EHD3|P|EH domain-containing 3||605891|R|||| | ||
2.152|12|19|11|2p21|EPCAM, ACSTD1, TROP1, M4S1, MIC18, DIAR5, HNPCC8|C|Epithelial cellular adhesion molecule||185535|A, REa|previously assigned to 4q||Diarrhea 5, with tufting enteropathy, congenital, 613217 (3);|Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3) | ||
2.153|9|9|08|2p16.3|FBXO11, FBX11, VIT1, PRMT9|P|F-box only protein 11||607871|REc|?2p16||| | |17(Fbxo11)|
2.154|8|27|09|2p21|KCNG3, KV6.3|C|Potassium voltage-gated channel, subfamily G, member 3||606767|REc|||| | ||
2.155|10|7|08|2p21|LEPQTL1, LSL|P|Leptin serum levels quantitative trait locus 1||601694|Fd|||[Leptin serum levels QTL1] (2)| | ||
2.156|4|9|09|2p16.3|LHCGR, LHR, LCGR|P|Luteinizing hormone/choriogonadotropin receptor||152790|A|||Precocious puberty, male, 176410 (3); Leydig cell hypoplasia with|pseudohermaphroditism, 238320 (3); Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3); Luteinizing hormone resistance,|female, 238320 (3); Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)||
2.157|1|22|09|2p25.1|LPIN1|P|Lipin 1||605518|REc|related to LSL||Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)| | |12(Lpin1)|
2.158|8|5|11|2p21|PKDCC, VLK, SGK493|P|Protein kinase domain-containing protein, cytoplasmic, mouse, homolog|of|614150|REc|||| | ||
2.159|4|30|09|2p21|PLEKHH2|P|Pleckstrin homology domain-containing protein, family H, member 2||612723|REc|||| | ||
2.160|10|19|01|2p21|PPM1B|P|Protein phosphatase, magnesium-dependent, 1, beta isoform||603770|R|formerly PP2CB||| | ||
2.161|4|21|10|2p21|PREPL, KIAA0436|C|Prolyl endopeptidase-like||609557|R, REc, D|||| | ||
2.162|8|4|99|2p21|PRKCE, PKCE|P|Protein kinase C, epsilon||176975|REc|||| | ||
2.163|7|1|02|2p22.2|PRKCN|P|Protein kinase C, nu||607077|R|||| | ||
2.164|7|11|93|2p22.2|PRKR|C|Protein kinase, interferon-inducible double stranded RNA dependent||176871|A|||| | |17(Prkr)|
2.165|8|3|12|2p21|RHOQ, ARHQ, TC10|P|Ras-homolog gene family, member Q||605857|R|||| | ||
2.166|4|15|11|2p21|SIX3, HPE2|C|Sine oculis homeo box, Drosophila, homolog of, 3||603714|Ch, REc, A, R, Fd|||Holoprosencephaly-2, 157170 (3); Schizensephaly, 269160 (3)| | |17(Six3)|
2.167|7|12|02|2p21|SOCS5, CIS6, KIAA0671|P|Suppressor of cytokine signaling 5||607094|A|also signals at 3p22||| | ||
2.168|5|1|91|2p16.2|SPTBN1|P|Spectrin, beta, nonerythrocytic-1 (beta-fodrin)||182790|REa, A|||| | ||
2.169|2|18|08|2p21|THADA, KIAA1767|P|Thyroid adenoma-associated gene||611800|REc|||| | ||
2.170|5|30|13|2p21|TTC7A, TTC7, KIAA1140, MINAT|P|Tetratricopeptide repeat domain 7A||609332|R, REc|||Intestinal atresia, multiple, 243150 (3)| | |17(Ttc7a)|
2.171|6|10|08|2p21|ZFP36L2, ERF2, TIS11D|P|Zinc finger protein 36-like 2||612053|REc|incorrectly mapped to 6p21.3||| | ||
2.172|1|27|11|2p21|MCFD2, F5F8D2|P|Multiple coagulation factor deficiency protein 2||607788|REc|||Factor V and factor VIII, combined deficiency of, 613625 (3)| | ||
2.173|2|11|08|2p21|EPAS1, MOP2, HIF2A, ECYT4|C|Endothelial PAS domain protein 1||603349|A, R|||Erythrocytosis, familial, 4, 611783 (3)| | ||
2.174|1|4|11|2p16.3|FSHR, ODG1|C|Follicle stimulating hormone receptor||136435|A, Fd|||Ovarian dysgenesis 1, 233300 (3); Ovarian response to FSH|stimulation, 276400 (3); Ovarian hyperstimulation syndrome, 608115 (3) | ||
2.175|2|15|03|2p21|LRPPRC, LRP130, LSFC|C|Leucine-rich PPR motif-containing protein||607544|R, Fd, Ld|||Leigh syndrome, French-Canadian type, 220111 (3)| | ||
2.176|2|4|96|2p21|PIGF|P|Phosphatidylinositol glycan, class F||600153|A|pseudogene on 5||| | |17(Pigf)|
2.177|8|25|04|2p21-p13|SCA25|P|Spinocerebellar ataxia 25||608703|Fd|||Spinocerebellar ataxia 25 (2)| | ||
2.178|9|9|10|2p16.3|GTF2A1L, ALF|P|General transcription factor IIA, 1-like||605358|Psh, REc|||| | ||
2.179|11|19|11|2p16.3|NRXN1, PTHSL2, SCZD17|P|Neurexin 1||600565|R, REc|||Pitt-Hopkins-like syndrome 2, 614325 (3); {Schizophrenia,|susceptibility to, 17}, 614332 (3) | ||
2.180|4|21|10|2p21|SLC3A1, ATR1, D2H, NBAT|C|Solute carrier family 3 (cystine, dibasic and neutral amino acid|transporters), member 1|104614|REa, Fd, A|||Cystinuria, 220100 (3)| | ||
2.181|10|4|12|2p16.3|STON1, STN1, SBLF, SALF|P|Stonin 1||605357|REc, Psh|||| | ||
2.182|1|26|12|2p16.2|ERLEC1, C2orf30|P|Erlectin (endoplasmic reticulum lectin 1)||611229|REc|||| | ||
2.183|4|28|10|2p16.2|ACYP2, ACYP|P|Acylphosphatase 2, muscle type||102595|REc|||| | ||
2.184|8|27|09|2p16.2|PSME4, PA200, KIAA0077|P|Proteasome activator subunit 4||607705|REa, REc|||| | ||
2.185|7|16|09|2p16.1|BCL11A, CTIP1, EVI9, KIAA1809|P|B-cell CLL/lymphoma 11A||606557|A|||| | ||
2.186|12|28|08|2p16.1|CCDC88A, KIAA1212, HKRP1, GIRDIN, APE, GIV|P|Coiled-coil domain-containing protein 88A||609736|R, REc|||| | |11(Ape)|
2.187|3|23|09|2p16.1|MIR216, MIRN216|P|Micro RNA 216||610944|REc|||| | ||
2.188|3|14|13|2p16.1|MIR217|P|Micro RNA 217||615096|REc|||| | ||
2.189|9|30|03|2p16.1|PHF9, FANCL|P|PHD finger protein 9||608111|R|||Fanconi anemia, complementation group L, 614083 (3)| | ||
2.190|11|29|12|2p16.1|PNPT1, OLD35, COXPD13, DFNB70|C|Polyribonucleotide nucleotidyltransferase 1||610316|R, REc|||Combined oxidative phosphorylation deficiency 13, 614932 (3);|Deafness, autosomal recessive 70, 614934 (3) | ||
2.191|5|19|09|2p16.1|PUS1, DOBI|P|Pseudouridylate synthase 10||612787|REc|||| | ||
2.192|8|19|13|2p16.1|SMEK2, PP4R3B|P|Suppressor of Mek1, Dictyostelium, homolog of, 2||610352|REc, R|||| | ||
2.193|1|20|09|2p16.1-p15|DEL2p16.1-p15, C2DELp161-p15|P|Chromosome 2p16.1-p15 deletion syndrome||612513|Ch|contiguous gene deletion syndrome||Chromosome 2p16.1-p15 deletion syndrome (4)| | ||
2.194|4|19|06|2p16|ASRT3|P|Asthma-related traits, susceptibility to, 3||609958|Fd|max lod at rs2063871||{Asthma-related traits, susceptibility to, 3} (2)| | ||
2.195|9|7|00|2p16|CNC2|P|Carney complex, type II||605244|Fd|||Carney complex, type II (2)| | ||
2.196|6|2|99|2p16.1|EFEMP1, FBNL, DHRD|C|EGF-containing fibulin-like extracellular matrix protein 1|(fibrillin-like)|601548|A, Fd, REc, R|||Doyne honeycomb degeneration of retina, 126600 (3)| | ||
2.197|2|21|02|2p16.2|GPR75|P|G protein-coupled receptor 75||606704|REc|||| | ||
2.198|12|1|11|2p16.3|MSH6, GTBP, HNPCC5|C|MutS, E. coli, homolog of, 6||600678|REc, H|0.5 Mb from MSH2||Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3);|Endometrial cancer, familial, 608089 (3); Mismatch repair cancer syndrome, 276300 (3)| ||
2.199|3|15|96|2p15|MDH1|C|Malate dehydrogenase, soluble||154200|S, D, A|proximal to APOB||| | |11(Mor2)|
2.200|9|3|10|2p16|STQTL24|P|Stature quantitative trait locus 24||613549|Fd|linked to rs1520446||{Stature QTL 24} (2)| | ||
2.201|5|11|98|2p15|XPO1, CRM1|P|Exportin-1 (required for chromosome region maintenance)||602559|A|||| | ||
2.202|11|29|99|2p16-p15|DYX3|P|Dyslexia, susceptibility to, 3||604254|Fd|||{Dyslexia, susceptibility to, 3} (2)| | ||
2.203|7|1|11|2p16-p15|GLC1H|P|Glaucoma 1, open angle, H||611276|Fd|between D2S123 AND D2S2165||Glaucoma 1, open angle, H (2)| | ||
2.204|4|28|97|2p14|PPP3R1, CALNB1|P|Protein phosphatase-3 (formerly 2B), regulatory subunit B (19kD),|alpha isoform (calcineurin B, type I)|601302|REa, A|||| | ||
2.205|1|29|01|2p21|SIX2|P|Sine oculis homeo box, Drosophila, homolog of, 2||604994|R|||| | |17(Six2)|
2.206|5|29|98|2p16.1|VRK2|P|Vaccinia-related kinase-2||602169|R|||| | ||
2.207|9|22|08|2p16.2|ASB3|P|Ankyrin repeat-containing SOCS box protein 3||605760|REc|||| | |11(Asb3)|
2.208|6|16|99|2p16.1|MTIF2|P|Mitochondrial translational initiation factor 2||603766|A, Psh|||| | ||
2.209|11|3|05|2p15|COMMD1, MURR1|P|Copper metabolism Murr1 domain-containing 1||607238|R|||| | ||
2.210|6|26|13|2p15|B3GNT2, B3GNT1, B3GNT|P|Beta-1,3-N-acetylglucosyaminyltransferase 2||605581|REc|||| | ||
2.211|11|17|10|2p15|C2orf86, BBS15|P|Chromosome 2 open reading frame 86||613580|REc|||Bardet-Biedl syndrome 15, 209900 (3)| | ||
2.212|5|26|05|2p15|CCT4, CCTD, SRB|P|Chaperonin containing T-complex polypeptide 1, subunit 4||605142|H, REc|||| | |11(mf)|
2.213|4|23|08|2p15|EHBP1, KIAA0903, HPC12|P|EH domain-binding protein 1||609922|R, REc|||{Prostate cancer, hereditary, 12}, 611868 (3)| | ||
2.214|10|27|10|2p15|FAM161A, RP28|P|Family with sequence similarity 161, member A||613596|REc, Fd|||Retinitis pigmentosa 28, 606068 (3)| | ||
2.215|10|25|12|2p16.1|PEX13, ZWS, NALD, PBD11A, PBD11B|P|Peroxisome biogenesis factor 13 (peroxin 13)||601789|A|||Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3);|Peroxisome biogenesis disorder 11B, 614885 (3) | ||
2.216|12|17|12|2p15|TMEM17|P|Transmembrane protein 17||614950|REc|||| | ||
2.217|7|1|13|2p15|USP34, KIAA0570|P|Ubiquitin-specific protease 34||615295|R, REc|||| | ||
2.218|12|29|09|2p14|ETAA1, ETAA16|P|Ewing tumor-associated antigen 1||613196|REc, A|||| | ||
2.219|10|24|11|2p13.3|NFU1, HIRIP, MMDS1|P|NFU1 iron-sulfur cluster scaffold, S. cerevisiae, homolog of||608100|R, M|||Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)| | ||
2.220|3|13|08|2p15-q14|ANIB5|P|Aneurysm, intracranial berry, 5||610402|Fd|max lod at D2S2293||Aneurysm, intracranial berry, 5 (2)| | ||
2.221|5|23|07|2p13.3|C2orf13, APFL|P|Aprataxin- and PNK-like factor||611035|REc|||| | ||
2.222|4|1|96|2p14|RAB1, RAB1A|P|RAB1, member RAS oncogene family||179508|REa, R|||| | |11(Rab1)|
2.223|2|1|11|2p14|SLC1A4, SATT, ASCT1|P|Solute carrier family 1 (glutamate/neutral amino acid transporter),|member 4|600229|A, REc|||| | ||
2.224|10|11|07|2p14|SPRED2|P|Sprouty-related EVH1 domain-containing protein 2||609292|REc|||| | |11(Spred2)|
2.225|6|1|12|2p14|VPS54, VPS54L, WR|P|Vacuolar protein sorting 54, S. Cerevisiae, homolog of||614633|H, REc|||| | |14(Vps54)|
2.226|7|3|06|2p14-p13.3|HRPT3|P|Hyperparathyroidism 3||610071|Fd|between D2S2368 and D2S358||Hyperparathyroidism 3 (2)| | ||
2.227|12|17|95|2p13.3|ADD2|C|Adducin-2, beta||102681|REa, A|||| | |6(Add2)|
2.228|11|6|94|2p13.2|EMX1|C|Empty spiracles, Drosophila, homolog of, 1||600034|REa, A|close to VAX2||| | |6(Dmx1)|
2.229|4|18|97|2p14|MEIS1|P|Meis1, mouse, homolog of||601739|A|||| | |11(Meis1)|
2.230|7|20|09|2p14-p13|RLS7|P|Restless legs syndrome, susceptibility to, 7||612853|Fd|associated with rs2300478||{Restless legs syndrome 7} (2)| | ||
2.231|11|29|00|2p16.1|RTN4, NOGO|C|Neurite outgrowth inhibitor (reticulon 4)||604475|R|||| | ||
2.232|10|23|87|2p15-p14|UGP2, UGPP2|C|Uridyl diphosphate glucose pyrophosphorylase-2||191760|REa, A|||| | ||
2.233|4|15|09|2p13.2|SPR|P|Sepiapterin reductase||182125|A|||Dystonia, dopa-responsive, due to sepiapterin reductase deficiency,|612716 (3) | |1(Spr)|
2.234|11|29|01|2q21.3|CCNT2|P|Cyclin T2||603862|R|||| | ||
2.235|6|27|05|2p13.3|GKN1, CA11|C|Gastrokine 1||606402|REc|||| | ||
2.236|8|27|02|2p13.1|LOXL3|P|Lysyl oxidase-like 3||607163|REc|||| | ||
2.237|1|6|09|2p13.3|MCEE|P|Methylmalonyl-CoA epimerase||608419|REc|||Methylmalonyl-CoA epimerase deficiency, 251120 (3)| | ||
2.238|8|27|09|2p13.3|NAGK, GNK|P|N-acetylglucosamine kinase||606828|R, REc|||| | ||
2.239|8|20|07|2p13.3|PAIP2B|P|Polyadenylate-binding protein-interacting protein 2B||611018|R, REc|||| | ||
2.240|9|2|12|2p14|PELI1|P|Pellino, Drosophila, homolog of, 1||614797|REc|||| | ||
2.241|5|22|07|2p13.3|PCYOX1, PCL1, KIAA0908|P|Prenylcysteine oxidase 1||610995|R, REc|||| | ||
2.242|9|7|12|2p13.3|PROKR1, PKR1, GPR73|P|Prokineticin receptor 1||607122|REc, R|||| | ||
2.243|5|25|13|2p13.3|SNRPG|P|Small nuclear ribonucleoprotein polypeptide G||603542|REc|||| | ||
2.244|3|21|02|2p13.2|DYSF, LGMD2B, MMD1|C|Dysferlin||603009|Fd, A|||Muscular dystrophy, limb-girdle, type 2B, 253601 (3);|Myopathy, distal, with anterior tibial onset, 606768 (3); Miyoshi muscular dystrophy 1, 254130 (3)| |6(Dysf)|
2.245|4|18|12|2p13.2|CYP26B1, CYP26A2, P450RAI2, RHFCA|P|Cytochrome P450, subfamily XXVIB, polypeptide 1||605207|REc|||Craniosynostosis with radiohumeral fusions and other skeletal and|craniofacial anomalies, 614416 (3) | ||
2.246|9|9|08|2p13.2|FBXO41, FBX41, KIAA1940|P|F-box only protein 41||609108|REc|||| | |6(Fbxo41)|
2.247|8|27|09|2p13.2|EXOC6B, SEC15B, KIAA0919|P|Exocyst complex component 6B||607880|R, REc|||| | ||
2.248|11|19|11|2p13.2|ZNF638, NP220|P|Zinc finger protein 638||614349|REc|||| | ||
2.249|12|7|95|2p13.1|ACTG2, ACTA3|C|Actin, gamma-2, smooth muscle, enteric||102545|REa, A|||| | ||
2.250|9|12|13|2p13.3|ANTXR1, TEM8, ATR, GAPO|P|Anthrax toxin receptor 1||606410|REc|||{Hemangioma, capillary infantile, susceptibility to}, 602089 (3);|GAPO syndrome, 230740 (3) | ||
2.251|1|18|12|2p13.3|ASPRV1, SASP, TAPS, MUNO|P|Aspartic peptidase, retroviral-like 1||611765|REc|||| | ||
2.252|10|24|11|2p13.1|BOLA3, MMDS2|P|BolA, E. coli, homolog of, 3||613183|REc, M|||Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)| | ||
2.253|8|27|09|2p13.1|DUSP11, PIR1|P|Dual specificity phosphatase-11, RNA/RNP complex-interacting||603092|TM, REc|||| | ||
2.254|9|12|13|2p13.1|STAMBP, AMSH, MICCAP|C|STAM binding protein||606247|A, REc|||Microcephaly-capillary malformation syndrome, 614261 (3)| | ||
2.255|6|13|12|2p13.1|TET3, KIAA0401|P|TET oncogene family, member 3||613555|R, REc|||| | ||
2.256|2|26|02|2p13.1|NAT8, TSC510|P|N-acetyltransferase 8||606716|R|||| | ||
2.257|5|25|13|2p13.1|NAT8B, CML2|P|N-acetyltransferase 8B||608190|REc|||| | ||
2.258|7|17|02|2p13.1|TLX2, HOX11L1|P|T-cell leukemia, homeobox 2||604240|REc|||| | ||
2.259|4|10|02|2p13.1|ALMS1, ALSS, KIAA0328|C|Alstrom syndrome gene||606844|LD, Fd, REc|||Alstrom syndrome, 203800 (3)| | ||
2.260|2|9|92|2p13.3|ANXA4, ANX4|P|Annexin A4 (placental anticoagulant protein II)||106491|Psh, A|||| | |6(Anx4)|
2.261|11|30|06|2p13.3|ARHGAP25, KAIA0053|C|RHO GTPase-activating protein 25||610587|Psh, REc|||| | ||
2.262|6|16|99|2p13.1|AUP1|P|Ancient ubiquitous protein 1||602434|REc|||| | |6(Aup1)|
2.263|12|26|13|2p13.2|CCT7|P|Chaperonin containing T-complex polypeptide 1, subunit 7||605140|REc|||| | ||
2.264|5|4|10|2p13.3|CD207, LANGERIN, CLEC4K|P|CD207 antigen||604862|R|||[Birbeck granule deficiency], 613393 (3)| | |6(Langerin)|
2.265|3|3|09|2p13.1|DCTN1, HMN7B|C|Dynactin 1 (p150, glued, Drosophila, homolog of)||601143|A, R|||Neuropathy, distal hereditary motor, type VIIB, 607641 (3);|{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3); Perry syndrome, 168605 (3)| ||
2.266|12|21|10|2p13.1|DGUOK, DGK, MTDPS3|P|Deoxyguanosine kinase, mitochondrial||601465|Fd, REc|||Mitochondrial DNA depletion syndrome 3 (hepatocerebral type),|251880 (3) | ||
2.267|12|15|98|2p13.1|DOK1|P|Downstream of tyrosine kinase 1||602919|R|||| | |6(Dok1)|
2.268|8|24|92|2p13.1|EGR4, NGFIC|P|Early growth response-4||128992|A|||| | |6(Egr4)|
2.269|8|20|12|2p13.3|GFPT1, GFAT1, GFPT1L, MSLG, CMSTA1|C|Glutamine-fructose-6-phosphate transaminase||138292|A|||Myasthenia, congenital, with tubular aggregates 1, 610542 (3)| | ||
2.270|8|27|02|2p13.1|LBX2|P|Lady bird-like homeo box 2||607164|Psh, R|||| | |6(Lbx2)|
2.271|11|27|94|2p13.3|MAD|P|MAD protein (MAX-binding protein)||600021|A|||| | ||
2.272|8|20|98|2p13|OFC2|P|Orofacial cleft-2||602966|Fd|?relation to TGFA||Orofacial cleft-2 (2)| | ||
2.273|11|6|94|2p15|OTX1|P|Orthodenticle, Drosophila, homolog of, 1||600036|REa, A|||| | ||
2.274|10|28|99|2p13|PEE1, PREG1|C|Preeclampsia/eclampsia 1||189800|Fd|?distinct loci at 2p25 and 9p13||Preeclampsia/eclampsia 1 (2)| | ||
2.275|4|23|98|2p13.1|RTKN|P|Rhotekin||602288|Psh|||| | |6(Rtkn)|
2.276|4|30|98|2p13|PARK3|P|Parkinson disease 3||602404|Fd|||Parkinson disease 3 (2)| | ||
2.277|6|28|99|2p13.1|SEMAW|P|Semaphorin W||603706|R|||| | |6(Semawa)|
2.278|12|27|13|2p13.2|SFXN5|P|Sideroflexin 5||615572|REc|||| | ||
2.279|5|6|03|2p13.1|SLC4A5, NBC4|P|Solute carrier family 4, sodium bicarbonate cotransporter, member 5||606757|REc|||| | ||
2.280|7|10|93|2p13.3|TGFA|C|Transforming growth factor, alpha||190170|REa, A|||| | |6(Tgfa)|
2.281|4|17|13|2p13.3|TIA1, WDM|P|TIA1 cytotoxic granule-associated RNA-binding protein||603518|A|||Welander distal myopathy, 604454 (3)| | ||
2.282|12|31|99|2p13.3|VAX2|P|Ventral anterior homeo box 2||604295|R|||| | |6(Vax2)|
2.283|2|4|00|2p13|WDM|P|Welander distal myopathy||604454|Fd|?mutation in DYSF||Welander distal myopathy (2)| | ||
2.284|6|3|02|2p14|C1D, SUNCOR|P|Nuclear DNA-binding protein C1D||606997|REc|pseudogene on chr.10||| | ||
2.285|4|16|10|2p13.1|GCS1, CDG2B|P|Glucosidase I||601336|A, Psh|||Congenital disorder of glycosylation, type IIb, 606056 (3)| | ||
2.286|3|9|98|2p13.3|PCBP1|P|Poly(rC)-binding protein-1||601209|A|||| | ||
2.287|8|27|09|2p13.2|RAB11RIP5, RIP11, KIAA0857|P|Rab11 family-interacting protein 5||605536|R, REc|||| | ||
2.288|5|1|91|2p16.1|REL|P|Oncogene REL, avian reticuloendotheliosis||164910|REa|||| | |11(Rel)|
2.289|7|22|13|2p12|CTRCT27, CCNP|P|Cataract 27, nuclear progressive||607304|Fd|near D2S2333||Cataract 27, nuclear progressive (2)| | ||
2.290|5|27|05|2p11.2|CD8A|C|CD8 antigen, alpha polypeptide  (p32)||186910|REa, A|distal to IGK||CD8 deficiency, familial, 608957 (3)| | |6(Ly2)|
2.291|9|12|93|2p11.2|CD8B1, CD8B|C|CD8 antigen, beta polypeptide 1 (p37)||186730|REa, H|pseudogene, CD8B2, on 2q12||| | |6(Ly3)|
2.292|1|6|11|2p12|DFNA43|P|Deafness, autosomal dominant 43||608394|Fd|max lod at D2S139||Deafness, autosomal dominant 43 (2)| | ||
2.293|8|14|00|2p11.2|EIF2AK3, PEK, PERK, WRS|C|Eukaryotic translation initiation factor 2-alpha kinase 3||604032|A, R, Fd|||Wolcott-Rallison syndrome, 226980 (3)| | ||
2.294|9|23|08|2p13.3|FIGLA, POF6|P|Factor in germline alpha, mouse, homolog of||608697|REc|||Premature ovarian failure 6, 612310 (3)| | ||
2.295|3|13|07|2p11.2|GGCX|P|Gamma-glutamyl carboxylase||137167|REa, A|||Vitamin K-dependent coagulation defect, 277450 (3);|Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3)| ||
2.296|4|11|97|2p12|HK2|P|Hexokinase-2, muscle||601125|Fd|no recombination with TGFA||| | ||
2.297|8|3|11|2p11.2|IGKC, IGKCD|C|Immunoglobulin kappa constant region||147200|REa, A|||[Kappa light chain deficiency], 614102 (3)| | |6(Igkc)|
2.298|4|15|08|2p12|IGKJ@|C|Immunoglobulin kappa light chain joining gene cluster||146970|REa, A|5 genes||| | ||
2.299|4|15|08|2p12|IGKV@|C|Immunoglobulin kappa light chain variable gene cluster||146980|REa, A|25+ genes in 4 classes; orphon gene 1.5Mb telomeric of IGKC||| | |6(Igkv)|
2.300|6|18|91|2p12|IGKDEL|P|Immunoglobulin kappa polypeptide deleting element||146780|RE|||| | |6(Igkrs)|
2.301|3|26|07|2p12|LRRTM1|P|Leucine-rich repeat transmembrane protein 1||610867|REn, H|||| | |6(Lrrtm1)|
2.302|3|26|07|2p12|LRRTM4|P|Leucine-rich repeat transmembrane protein 4||610870|REn, H|||| | |6(Lrrtm4)|
2.303|3|5|08|2p13.1|MRPL53|P|Mitochondrial ribosomal protein L53||611857|R, REc|pseudogene on 1||| | ||
2.304|3|17|94|2p12|PAP|C|Pancreatitis-associated protein||167805|REa, A, REc|||| | ||
2.305|10|7|02|2p12|POLE4|P|Polymerase, DNA, epsilon-4||607269|REc|||| | ||
2.306|1|16|07|2p13.1|HTRA2, OMI, PARK13, PRSS25|C|HTRA serine peptidase 2||606441|REc, A|||Parkinson disease 13, 610297 (3)| | ||
2.307|3|14|96|2p12|REG1A, PSPS1, REG|C|Regenerating islet-derived 1 alpha (pancreatic stone protein,|pancreatic thread protein)|167770|A, Psh, REc|||| | |12(Reg1)|
2.308|2|28|06|2p12|REG3G, PAP1B|P|Regnerating islet-derived 3-gamma||609933|REc|||| | ||
2.309|10|4|93|2p12|REGL, PSPS2|P|Regenerating islet-derived, rat, homolog-like (pancreatic stone|protein-like; pancreatic thread protein-like)|167771|A|||| | |?3(Reg2)|
2.310|5|28|02|2p13.1|WBP1|P|WW domain-binding protein 1||606961|A|||| | ||
2.311|2|1|11|2p12-p11.2|DEL2p12p11.2, C2DELp12p11.2|P|Chromosome 2p12-p11.2 deletion syndrome||613564|Ch|contiguous gene deletion syndrome||Chromosome 2p12-p11.2 deletion syndrome (4)| | ||
2.312|5|21|07|2p11.2|SFTPB, SFTB3, SMDP1|C|Pulmonary surfactant-associated protein B, 18kD||178640|REa, A|||Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)| | |6(Sftp3)|
2.313|5|13|02|2p11.2|VAMP8|P|Vesicle-associated membrane protein 8||603177|R|||| | |6(Vamp8)|
2.314|8|11|98|2p12|CTNNA2, CAPR, CTNR|P|Catenin, alpha-2 (cadherin-associated protein, related)||114025|A|||| | |6(Capr)|
2.315|1|31|00|2p11.2|GNLY, D2S69E, TLA519|P|Granulysin (T-lymphocyte activation gene 519)||188855|A|||| | ||
2.316|3|5|03|2p12-q22|HSR|P|Hand skill, relative||139900|Fd|||[Handedness] (2)| | ||
2.317|5|2|94|2p22.3|LTBP1|P|Latent transforming growth factor beta binding protein 1||150390|REa|||| | ||
2.318|9|29|13|2p11.2|ELMOD3, RBED1, DFNB88|P|ELMO/CED12 domain-containing protein 3||615427|REc|one family identified with mutation||?Deafness, autosomal recessive 88, 615429 (3)| | ||
2.319|2|21|06|2p11.2|DNAH6, HL2|C|Dynein, axonemal, heavy chain 6||603336|A, R, REc|||| | ||
2.320|10|21|08|2p11.2|FOXI3|P|Forkhead box I3||612351|REc|||| | ||
2.321|2|20|09|2p11.2|IMMT, HMP|C|Inner membrane protein, mitochondrial (mitofilin)||600378|REc, R|pseudogene on chr.21||| | ||
2.322|7|18|12|2p11.2|KCMF1, DEBT91, FIGC|P|Potassium channel modulatory factor 1||614719|REc, H|||| | ||
2.323|10|24|11|2p11.2|KDM3A, JMJD1A, JHDM2A, TSGA, KIAA0742|P|Lysine-specific demethylase 3A||611512|R, REc|||| | ||
2.324|8|4|97|2p11.2|MAT2A, MATA2, SAMS2|P|Methionine adenosyltransferase II, alpha||601468|A|||| | ||
2.325|3|5|08|2p11.2|MRPL35|P|Mitochondrial ribosomal protein L35||611841|REc|pseudogenes on 6, 10, and X||| | ||
2.326|12|10|12|2p11.2|PTCD3|P|Pentatricopeptide repeat domain-containing protein 3||614918|REc|||| | ||
2.327|8|20|12|2p11.2|REEP1, C2ORF23, SPG31, HMN5B|P|Receptor expression-enhancing protein 1||609139|Fc, R, REc|||Spastic paraplegia 31, autosomal dominant, 610250 (3); Neuronopathy,|distal hereditary motor, type VB, 614751 (3) | ||
2.328|4|23|09|2p11.2|RGPD1, RGP1|P|RANBP2-like and GRIP domain-containing protein 1||612704|REn|||| | ||
2.329|4|23|09|2p11.2|RGPD2, RGP2|P|RANBP2-like and GRIP domain-containing protein 2||612705|REn|||| | ||
2.330|12|22|08|2p11.2|RNF181|P|Ring finger protein 181||612490|R, REc|||| | ||
2.331|8|25|04|2p11.2|RPIA, RPI|P|Ribose 5-phosphate isomerase A||180430|R, REc|||Ribose 5-phosphate isomerase deficiency, 608611 (3)| | ||
2.332|5|31|05|2p11.2|SIAT9, ST3GALV|C|Sialyltransferase 9||604402|REc, Fd|||Amish infantile epilepsy syndrome, 609056 (3)| | ||
2.333|12|27|10|2p11.2|SUCLG1, SUCLA1, MTDPS9|P|Succinate-CoA ligase, alpha subunit||611224|R, REc|||Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type|with methylmalonic aciduria), 245400 (3) | ||
2.334|6|13|12|2p11.2|TCF7L1|P|Transcription factor 7-like 1||604652|REc|||| | ||
2.335|3|4|10|2p11.2|TGOLN2, TGN46, TGN38|P|Trans-golgi network protein 2, 46kD||603062|A|||| | ||
2.336|8|19|13|2p11.2|THNSL2, THS2|P|Threonine synthase-like 2||611261|REc|||| | ||
2.337|12|10|12|2p11.2|TRABD2A, TIKI1|P|TRAB domain-containing protein 2A||614912|REc|||| | ||
2.338|2|23|08|2p11.2|USP39, SAD1|P|Ubiquitin-specific protease 39||611594|REc|||| | ||
2.339|8|27|09|2p11.2|VAMP5|P|Vesicle-associated membrane protein 5 (myobrevin)||607029|R, REc|||| | ||
2.340|6|24|99|2p11.2|ZFP103, KF1|P|Zinc finger protein 103, mouse, homolog of||602507|A|||| | ||
2.341|9|19|00|2p12|C2orf3, TCF9, GCF|P|GC factor||189901|A|||| | ||
2.342|1|30|07|2q11.2|ANKRD23, DARP|P|Ankyrin repeat domain-containing protein 23||610736|REc|||| | ||
2.343|2|28|08|2p12|MRPL19, MRPL15, KIAA0104|C|Mitochondrial ribosomal protein L19||611832|Psh, R|||| | ||
2.344|4|23|08|2q11.1|MRPS5|P|Mitochonrdial ribosomal protein S5||611972|R, REc|||| | ||
2.345|12|19|11|2p11.1-q12.2|FAME2, BAFME2, ADCME|P|Epilepsy, myoclonic, adult familial, 2||607876|Fd|max lod at D2S2175||Epilepsy, myoclonic, adult familial, 2 (2)| | ||
2.346|1|25|88|2p11.2|FABP1|C|Fatty acid-binding protein, liver||134650|REa, A|||| | |6(Fabpl)|
2.347|7|15|04|2p12|TACR1, TAC1R, NK1R|C|Tachykinin receptor 1 (substance P receptor; neurokinin-1 receptor)||162323|REa, Psh, Fd|||| | ||
2.348|9|2|08|2p11.2|PLGLB1, PLGL, PRGB|P|Plasminogen-like B1||173340|REa, A|||| | ||
2.349|9|20|00|2p14-p13|PLEK|L|Pleckstrin||173570|H|||| | |11(Plek)|
2.350|12|4|95|2p24.2|VSNL1|P|Visinin-like 1||600817|Fd|||| | ||
2.351|1|5|99|2p13.3|ATP6B1, VPP3|C|ATPase, H+ transporting, lysosomal, beta polypeptide, 58kD (vacuolar|proton pump, subunit 3)|192132|REa, R, Fd|||Renal tubular acidosis with deafness, 267300 (3)| | |8(Atp6b1)|
2.352|3|8|91|2q11.2|COX5B|P|Cytochrome c oxidase, subunit Vb||123866|REa|7 pseudogenes on 4, 6, 7, 11, 12, 13, and 22||| | ||
2.353|2|14|02|2cen-q13|GLC1B|P|Glaucoma 1, open angle, B (adult-onset)||606689|Fd|||Glaucoma 1B, primary open angle, adult onset, (2)| | ||
2.354|10|23|87|2q14.2|INHBB|P|Inhibin, beta-2||147390|REa|||| | |1(Inhbb)|
2.355|10|23|87|2q11.1|MAL|P|T-lymphocyte maturation-associated protein||188860|REa|||| | ||
2.356|12|19|90|2q14.2|RALB|P|RAS-like protein B||179551|REa|||| | ||
2.357|1|1|95|2p11.2|CAPG|P|Capping protein (actin filament), gelsolin-like||153615|Psh, A|||| | ||
2.358|3|24|05|2q|AUTS5|P|Autism, susceptibility to, 5||606053|Fd|max lod at D2S188||{Autism susceptibility 5} (2)| | ||
2.359|2|28|06|2q|COPD|P|Pulmonary disease, chronic obstructive, severe early-onset||606963|Fd|?SERPINE2||Pulmonary disease, chronic obstructive, severe early-onset (2)| | ||
2.360|10|7|98|2q11.2|CNGA3, CNG3, ACHM2|P|Cyclic nucleotide-gated channel, alpha-3||600053|Fd, R|||Achromatopsia-2, 216900 (3)| | ||
2.361|10|15|98|2q11.2|DUSP2, PAC1|C|Dual-specificity phosphatase-2||603068|REa, A|||| | ||
2.362|7|26|10|2q11.2|TMEM127|P|Transmembrane protein 127||613403|REc|||{Pheochromocytoma, susceptibility to}, 171300 (3)| | ||
2.363|4|25|08|2q11-q12|CELIAC8|P|Celiac disease, susceptibility to, 8||612006|Fd|associated with rs917997 and rs13015714||{Celiac disease, susceptibility to, 8} (2)| | ||
2.364|12|17|12|2q12.3|EDAR, DL, ED3, EDA3, HRM1, ECTD10A, ECTD10B|C|Ectodysplasin 1, anhidrotic receptor (downless, mouse, homolog of)||604095|Fd, R|||Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal|dominant, 129490 (3); Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3); [Hair morphology 1, hair thickness], 612630|(3) ||
2.365|10|3|11|2q12.3|RANBP2, NUP358, ANE1, IIAE3|P|RAN-binding protein 2||601181|A|||{Encephalopathy, acute, infection-induced, 3, susceptibility to},|608033 (3) | |10(Ranbp2)|
2.366|3|20|08|2q11-q14|NNO3|P|Nanophthalmos 3||611897|Fd|max lod at D2S2265||Nanophthalmos 3 (2)| | ||
2.367|8|17|98|2q13|SLC20A1, GLVR1|P|Solute carrier family 20, phosphate transporter, member 1|(Gibbon ape leukemia virus receptor-1)|137570|REa, A|||| | |2(Slc20a1)|
2.368|9|9|10|2q11.1|KCNIP3, KCHIP3, CSEN, DREAM|P|Potassium channel-interacting protein 3||604662|REc|||| | ||
2.369|1|30|01|2q11.2|ACTR1B, ARP1B, CTRN2|P|Actin-related protein 1B||605144|REa, A|||| | ||
2.370|4|23|98|2q12.3|SULT1C1|P|Sulfotransferase 1C1||602385|Psh|||| | ||
2.371|9|22|08|2q11.1|ADRA2B, ADRA2L1|P|Adrenergic, alpha-2B-, receptor||104260|REa, REc|||| | ||
2.372|12|7|07|2q11.2|ARID5A, MRF1|P|AT-rich interactive domain-containing protein 5A||611583|R, REc|||| | ||
2.373|8|17|98|2q11.2|BRRN1|P|Barren, Drosophila, homolog of, 1||602332|REa, REc, R|||| | ||
2.374|1|14|13|2q11.2|COA5, C2orf64, PET191|P|Cytochrome c oxidase assembly factor 5||613920|REc|||Mitochondrial complex IV deficiency, 220110 (3)| | ||
2.375|8|27|09|2q11.2|CHST10, HNK1ST|P|Carbohydrate sulfotransferase 10||606376|R, REc|||| | ||
2.376|8|31|12|2q11.2|CIAO1, WDR39|P|WD repeat-containing protein CIAO1||604333|A, R|||| | ||
2.377|8|31|09|2q11.2|CNNM3, ACDP3|C|Cyclin M3||607804|R, REc|previously assigned to 2p12-p11.2||| | ||
2.378|8|31|09|2q11.2|CNNM4, ACDP4|C|Cyclin M4||607805|R, Fd, REc|||Jalili syndrome, 217080 (3)| | |1(Cnnm4)|
2.379|9|30|09|2q24.1|CYTIP, PSCDBP, HE|P|Cytohesin 1 interacting protein||604448|Re, R|||| | ||
2.380|2|9|00|2q12.1|IL1RL1|C|Interleukin 1 receptor-like 1||601203|REa, A, R|||| | ||
2.381|10|24|00|2q11.2|INPP4A, INPP4|P|Inositol polyphosphate-4-phosphatase, type I, 107kD||600916|A|||| | ||
2.382|4|21|10|2q11.2|LIPT1|P|Lipoyltransferase 1||610284|A|||| | ||
2.383|2|28|08|2q11.2|MRPL30, MRPL28|P|Mitochondrial ribosomal protein L30||611838|R|||| | ||
2.384|12|17|07|2q11.2|PDCL3, PHLP3, VIAF|P|Phosducin-like 3||611678|R, REc|||| | ||
2.385|8|3|12|2q11.2|REV1L, REV1|P|Rev1, S. cerevisiae, homolog of||606134|REc|||| | ||
2.386|1|1|96|2q12.1|SLC9A2|C|Solute carrier family 9 (sodium/hydrogen exchanger), member 2||600530|REa, A|||| | |1(Slc9a2)|
2.387|2|19|10|2q11.2|SNRNP200, ASCC3L1, KIAA0788, RP33|P|Small nuclear ribonucleoprotein 200kD (U5)||601664|R, REc, Fd|||Retinitis pigmentosa 33, 610359 (3)| | ||
2.388|1|27|04|2q12.3|SULT1C2|P|Sulfotransferase family 1C, member 2||608357|REc|||| | ||
2.389|5|25|13|2p11.2|TMSB10|P|Thymosin, beta-10||188399|REc|||| | ||
2.390|8|27|02|2q11.2|TSGA10|P|Testis-specific protein 10||607166|Psh, A|||| | ||
2.391|2|4|09|2q11.2|TXNDC9, PHLP3|P|Thioredoxin domain-containing protein 9||612564|REc|||| | ||
2.392|3|1|01|2q11.1|ZNF2|C|Zinc finger protein-2||194500|REa, A|||| | ||
2.393|5|5|00|2q12.1|GPR45|P|G protein-coupled receptor 45||604838|A|||| | ||
2.394|10|17|96|2q11.2|LAF4|C|Lymphoid nuclear protein related to AF4||601464|A, Ch|||| | |1(Laf4)|
2.395|2|19|04|2q12.2-q12.3|ST6GALII, KIAA1877|C|Beta-galactoside alpha-2,6-sialyltransferase II||608472|R, REc|||| | ||
2.396|3|1|00|2q12.1|IL18R1, IL1RRP|P|Interleukin 18 receptor 1||604494|R|||| | ||
2.397|3|10|00|2q12.1|IL18RAP, ACPL|P|Interleukin 18 receptor accessory protein||604509|R|||| | ||
2.398|8|17|98|2q11.2-q12.1|IL1R1, IL1RA|P|Interleukin-1 receptor, type I||147810|REa, A|||| | |1(Il1r)|
2.399|2|9|00|2q12.1|IL1RL2, IL1RRP2|P|Interleukin 1 receptor-like 2||604512|R|||| | ||
2.400|3|8|00|2q11.2|MGAT4A|P|Alpha-1,3-mannosyl-glycoprotein|beta-1,4-N-acetylglucosaminyltransferase, isozyme A|604623|A|||| | ||
2.401|5|12|00|2q12.2|NCK2|P|NCK adaptor protein 2||604930|A|||| | ||
2.402|12|23|05|2q12.2|UXS1, UGD|P|UDP-glucuronate decarboxylase 1||609749|R, REc|||| | ||
2.403|10|24|12|2q11.2|ZAP70, SRK, STD, STCD|C|Zeta-chain associated protein kinase, 70kD (syk-related tyrosine|kinase)|176947|A|||Selective T-cell defect, 269840 (3)| | |1(Zap70)|
2.404|8|17|01|2q13|BCL2L11, BIM|P|BCL2-like 11||603827|A|?2p13||| | ||
2.405|7|9|06|2q14.2|MARCO|P|Macrophage receptor with collagenous structure||604870|A|||| | |1(Marco)|
2.406|6|23|98|2q12.1-q12.2|FHL2, DRAL|P|Four and a half LIM domains-2 (Down-regulated in rhabdomyosarcoma|LIM protein)|602633|A|||| | ||
2.407|9|28|00|2q12-q14|IGKV1OR2-108, IGO1|P|Immunoglobulin orphon (transposed element) 1||147185|A|||| | ||
2.408|8|27|01|2q13|PAX8|C|Paired box homeotic gene-8||167415|REa, A|||Hypothyroidism, congenital, due to thyroid dysgenesis or|hypoplasia, 218700 (3) | |2(Pax8)|
2.409|1|5|93|2q14.2|DBI|I|Diazepam-binding inhibitor||125950|A, REa|?on 6q21-qter||| | ||
2.410|12|21|98|2q11.2|IL1R2, IL1RB|P|Interleukin-1 receptor, type II||147811|REa, A|||| | |1(Il1rb)|
2.411|9|10|07|2q37.1|SNORD82, RNU82|P|Small nucleolar RNA, C/D box, 82||611133|REc|||| | ||
2.412|2|26|95|2q37.1|NCL|P|Nucleolin||164035|REa|||| | ||
2.413|9|1|11|2q13|IL37, IL1F7, FIL1Z, IL1H4, IL1RP1|P|Interleukin 37||605510|R|||| | ||
2.414|4|23|08|2q12.1|MRPS9|P|Mitochondrial ribosomal protein S9||611975|R, REc|||| | ||
2.415|4|13|98|2q12.1|POU3F3|P|POU domain, class 3, transcription factor-3||602480|A|previously mapped to 3p14.2||| | |1(Pou3f3)|
2.416|4|30|09|2q12.1|SLC9A4, NHE4|P|Solute carrier family 9 (sodium/hydrogen exchanger), member 4||600531|REa|||| | |1(Slc9a4)|
2.417|8|27|09|2q12.1|TGFBRAP1, TRAP1|P|Transforming growth factor-beta receptor-associated protein 1||606237|REc|||| | ||
2.418|9|2|08|2q12.2|PLGLA, PRGA|P|Plasminogen-like A||612212|R, REc|||| | ||
2.419|4|23|09|2q12.3|GCC2, GCC185, KIAA0336|C|GRIP and coiled-coil domains-containing protein 2||612711|R, REc|||| | ||
2.420|1|28|13|2q12.3|SLC5A7, CHT1, HMN7A|P|Solute carrier family 5 (choline transporter), member 7||608761|REc, R|||Neuronopathy, distal hereditary motor, type VIIA, 158580 (3)| | ||
2.421|4|23|09|2q12.2|RGPD3, RGP3|P|RANBP2-like and GRIP domain-containing protein 3||612706|REn|||| | ||
2.422|4|23|09|2q12.3|RGPD4, RGP4|P|RANBP2-like and GRIP domain-containing protein 4||612707|REn|||| | ||
2.423|4|23|09|2q13|RGPD5, RGP5, BS63|P|RANBP2-like and GRIP domain-containing protein 5||612708|REn|||| | ||
2.424|4|23|09|2q13|RGPD6, RGP6|P|RANBP2-like and GRIP domain-containing protein 6||612709|REn|||| | ||
2.425|4|23|09|2q12.3-q13|RGPD7, RGP7|P|RANBP2-like and GRIP domain-containing protein 7||612710|REn|||| | ||
2.426|4|23|09|2q13|RGPD8, RGP8, RANBP2L1|C|RANBP2-like and GRIP domain-containing protein 8||602752|A, REc|||| | ||
2.427|3|6|08|2q14.1|DPP10, DPRP3, KIAA1492|P|Dipeptidyl peptidase X||608209|REc|||| | ||
2.428|8|8|13|2q13|ANAP1, APC1|P|Anaphase-promoting complex, subunit 1||608473|Psh, A, R|||| | ||
2.429|3|31|03|2q13|COMA|P|Cogan-type congenital oculomotor apraxia||257550|D|independent gene or feature of nephronophthisis||Oculomotor apraxia, congenital, Cogan-type (2)| | ||
2.430|3|17|08|2q13|FBLN7, TM14|P|Fibulin 7||611551|REc|||| | ||
2.431|10|15|97|2q13|MALL, BENE|C|mal, T-cell differentiation protein-like||602022|REn, REc|||| | ||
2.432|9|1|11|2q13|IL36RN, IL1F5, FIL1D, IL1HY1, IL1RP3, PSORP|C|Interleukin 36 receptor antagonist||605507|R, REc|||Psoriasis, generalized pustular, 614204 (3)| | ||
2.433|9|1|11|2q13|IL36A, IL1F6, FIL1E|C|Interleukin 36, alpha||605509|REc, R|||| | ||
2.434|9|1|11|2q13|IL36B, IL1F8, IL1H2, FIL1H|C|Interleukin 36, beta||605508|R, REc|||| | ||
2.435|9|1|11|2q13|IL36G, IL1F9, IL1H1, IL1RP2|C|Interleukin 36, gamma||605542|REc, R|||| | ||
2.436|6|16|99|2q11.2|NPAS2, MOP4|P|Neuronal PAS domain protein 2||603347|R, Psh|||| | |1(Npas2)|
2.437|6|16|04|2q13|NPHP1, NPH1, SLSN1, JBTS4|C|Nephrocystin||607100|Fd|||Nephronophthisis 1, juvenile, 256100 (3); Senior-Loken syndrome-1,|266900 (3); Joubert syndrome 4, 609583 (3) | ||
2.438|1|30|12|2q13|PSD4, EFA6B, TIC|P|Pleckstrin and Sec7 domains-containing protein 4||614442|REc|||| | ||
2.439|11|27|00|2q13-q14|RABL2A|P|RAB-like 2A||605412|A|||| | ||
2.440|1|22|08|2q13|SEPT10|P|Septin 10||611737|REc|pseudogene on 8q22.1-q12||| | ||
2.441|12|4|03|2q13|TTL|P|Tubulin-tyrosine ligase||608291|REc|||| | |2(Ttl)|
2.442|3|1|12|2q14.3|PROC, PC, THPH3, THPH4|C|Protein C (inactivator of coagulation factors Va and VIIIa)||612283|REa, A|||Thrombophilia due to protein C deficiency, autosomal dominant,|176860 (3); Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)| ||
2.443|8|21|07|2q13|CBWD2|P|Cobalamin synthetase W domain-containing protein 2||611079|REc|||| | ||
2.444|8|21|07|2q13|FOXD4L1|P|Forkhead box D4-like 1||611084|REc|||| | ||
2.445|3|22|93|2q14.2|EN1|C|Engrailed-1||131290|REa|||| | |1(En1)|
2.446|10|11|07|2q14.3|BIN1, AMPHL|P|Box-dependent MYC-interacting protein-1 (amphiphysin-like)||601248|Psh, A|||Myopathy, centronuclear, autosomal recessive, 255200 (3)| | |18(Bin1)|
2.447|3|9|00|2q13|BUB1|C|Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of|(mitotic checkpoint gene BUB1)|602452|A, R|||Colorectal cancer with chromosomal instability (3)| | |2(Bub1)|
2.448|8|27|09|2q14.2-q14.3|CLASP1, KIAA0622|P|CLIP-associated protein 1||605852|R, REc|||| | ||
2.449|5|26|13|2q14.3|CNTNAP5, CASPR5|P|Contactin-associated protein-like 5||610519|REc|||| | ||
2.450|1|17|08|2q14.2|EPB41L5, KIAA1548|P|Erythrocyte membrane protein band 4.1-like 5||611730|R, REn|||| | ||
2.451|8|5|11|2q14.2|GLI2, HPE9|C|GLI-Kruppel family member GLI2 (oncogene GLI2)||165230|REa, A|||Holoprosencephaly-9, 610829 (3)| | ||
2.452|6|11|98|2q13|IL1A|C|Interleukin-1, alpha||147760|H, REa, A|within 430kb of IL1B, IL1RN||| | |2(Il1a)|
2.453|5|27|05|2q13|IL1B|C|Interleukin-1, beta||147720|REa, A, H|within 430kb of IL1RN, IL1A||{Gastric cancer risk after H. pylori infection}, 137215 (3)| | |2(Il1b)|
2.454|7|1|13|2q13|IL1F10, IL1HY2|P|Interleukin 1 family, member 10||615296|REc|||| | ||
2.455|12|23|05|2q14.2|TFCP2L1, CRTR1, LBP9|P|Transcription factor CP2-like 1||609785|R, REc|||| | ||
2.456|6|9|08|2p14|WDR92, LOC116143, MONAD|P|WD repeat-containing protein 92||610729|R, REc|||| | ||
2.457|2|28|03|2q14.3|GYPC, GE, GPC|P|Glycophorin C (Gerbich blood group)||110750|A|||{Malaria, resistance to}, 611162 (3); [Blood group, Gerbich] (3)| | ||
2.458|9|14|89|2q14-q21|LCO|P|Liver cancer oncogene||165320|REa, REb, A|||?Hepatocellular carcinoma (1)| | ||
2.459|2|10|95|2q14-q21|VIS1, HIS1|P|Viral integration site 1||164755|A|||| | |2(His1)|
2.460|11|9|99|2q14-q22|CMD1H|P|Cardiomyopathy, dilated, 1H||604288|Fd|||Cardiomyopathy, dilated, 1H (2)| | ||
2.461|4|22|10|2q14.1|ACTR3, ARP3|P|Actin-related protein 3||604222|REc|||| | ||
2.462|12|24|08|2q14.1|BMIQ13|P|Body mass index quantitative trait locus 13||612459|Fd|associated with rs7566605||[Body mass index QTL13] (2)| | ||
2.463|12|4|08|2q14.2|INSIG2|P|Insulin-induced gene 2||608660|REc|||| | ||
2.464|11|8|95|2q14.2|SCTR|P|Secretin receptor||182098|A|||| | ||
2.465|4|6|11|2q13|MERTK, RP38|C|Mer tyrosine kinase protooncogene||604705|A, Fd|||Retinitis pigmentosa 38, 613862 (3)| | ||
2.466|7|9|06|2q14.1|DDX18|P|DEAD/H box 18||606355|R, REc|||| | ||
2.467|1|28|08|2q12.2|C2orf40, ECRG4|P|Esophageal cancer-related gene 4||611752|REc|||| | ||
2.468|11|19|11|2q14.2|C1QL2, CTRP10, C1QTNF10|P|Complement component 1, q subcomponent-like 2||614330|REc|||| | ||
2.469|7|9|09|2q13|IL1RN, MVCD4, DIRA|C|Interleukin-1 receptor antagonist||147679|REa, Fd, A|||{Gastric cancer risk after H. pylori infection}, 137215 (3);|{Microvascular complications of diabetes 4}, 612628 (3); Interleukin 1 receptor antagonist deficiency, 612852 (3)| ||
2.470|4|15|11|2q14.2|RNU4ATAC, U4ATAC, MOPD1, TALS|P|RNA, U4, small nuclear, AT-AC form||601428|REc, Fd|||Microcephalic osteodysplastic primordial dwarfism, type I, 210710|(3) | ||
2.471|5|24|13|2q14.2|STEAP3, TSAP6, AHMIO2|P|Six-transmembrane epithelial antigen of prostate 3||609671|A|1 family identifed with mutation||?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3)| | |1(Steap3)|
2.472|4|23|08|2q14.3|MKI67IP, NIFK, NOPP34|P|MKI67-interacting nucleolar phosphoprotein||611970|R, REc|||| | ||
2.473|12|28|08|2q14.3|SAP130|P|Sin3A-associated protein, 130kD||609697|R, REc|||| | ||
2.474|8|27|09|2q14.3|UGGT1, HUGT1|P|UDP-glucose glycoprotein glucosyltransferase 1||605897|REc|||| | ||
2.475|4|27|12|2q14.3-q21.3|DYT21|P|Dystonia 21||614588|Fd|||Dystonia 21 (2)| | ||
2.476|4|16|03|2q22.1|CXCR4, D2S201E, NPY3R, WHIM|C|Chemokine (C-X-C motif) receptor 4|(neuropeptide Y receptor Y3)|162643|Psh, A|||WHIM syndrome, 193670 (3); Myelokathexis, isolated (3)| | ||
2.477|1|17|07|2q14.3|ERCC3, XPB|C|Excision-repair cross-complementing rodent repair deficiency,|complementation group 3|133510|S, A|||Xeroderma pigmentosum, group B, 610651 (3); Trichothiodystrophy,|601675 (3) | ||Weeda (1991a, 1991b)
2.478|10|15|98|2q14.3|GPR17|C|G protein-coupled receptor-17||603071|REa, A|||| | ||
2.479|10|17|12|2q14.3|HS6ST1, HS6ST, HH15|P|Heparan sulfate 6-O-sulfotransferase 1||604846|R, REc|||{Hypogonadotropic hypogonadism 15 with or without anosmia},|614880 (3) | ||
2.480|1|23|09|2q21.3|LCT, LAC, LPH|C|Lactase (lactase-phlorizin hydrolase)||603202|REa, Fd, A, Psh|||Lactase deficiency, congenital, 223000 (3)| | ||
2.481|2|5|09|2q21.3|MCM6|C|Minichromosome maintenance deficient (mis5, S. pombe) 6||601806|A|mutations in introns 9 and 13||Lactase persistance/nonpersistance, 223100 (3)| | ||
2.482|7|1|97|2q21.2-q21.3|MGAT5|P|Mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-|glucosaminyltransferase|601774|A|||| | ||
2.483|3|23|09|2q21.3|MIR128-1, MIRN128-1, MIR128A|P|Micro RNA 128-1||611774|REc|||| | ||
2.484|8|31|01|2q21|NMTC1|P|Nonmedullary thyroid carcinoma 1||606240|Fd|||Thyroid carcinoma, nonmedullary, 1 (2)| | ||
2.485|11|20|98|2q21.2|GPR39|P|G protein-coupled receptor-39||602886|A|||| | ||
2.486|3|17|94|2q24.3|SCN7A, SCN6A|P|Sodium channel, voltage-gated, type VII, alpha polypeptide||182392|Pcm|||| | ||
2.487|9|23|08|2q21.1|ADHD5|P|Attention deficit-hyperactivity disorder, susceptibility to, 5||612311|Fd|max lod at rs985162||{Attention deficit-hyperactivity disorder, susceptibility to, 5} (2)| | ||
2.488|3|31|11|2q21.1|CFC1, CRYPTIC, HTX2, DTGA2|P|Cryptic protein||605194|R|||Heterotaxy, visceral, 2, autosomal, 605376 (3); Double-outlet right|ventricle, 217095 (3); Transposition of the great arteries, dextro-looped 2, 613853 (3)| ||
2.489|9|7|10|2q21.1|FAM128A, MOZART2A|P|Family with sequence similarity 128, member A||613449|REc|||| | ||
2.490|9|7|10|2q21.1|FAM128B, MOZART2B|P|Family with sequence similarity 128, member B||613450|REc|||| | ||
2.491|9|2|09|2q21.1|IMP4, BXDC4|P|Imp4, S. cerevisiae, homolog of||612981|REc|||| | ||
2.492|12|27|01|2q14.3|MYO7B|P|Myosin VIIb||606541|R, A|||| | |18(Myo7b)|
2.493|6|7|10|2q21.1|POTEE, POTE2|C|POTE ankyrin domain family, member E||608914|REc, A|5 POTE2 genes within 2Mb segment||| | ||
2.494|8|18|12|2q21.1|POTEKP, ACT, ACTBL3, POTEK, FKSG30|P|POTE ankyrin domain family, member K, pseudogene||611266|REc|||| | ||
2.495|8|27|09|2q21.1|PTPN18, BDP1|P|Protein-tyrosine phosphatase, nonreceptor-type, 18||606587|R, REc|||| | ||
2.496|3|2|01|2q14.3|TSN|P|Translin||600575|REa, A|||| | ||
2.497|7|22|09|2q21.1|RAB6C, WTH3|P|Ras-associated protein RAB6C||612909|REc|||| | ||
2.498|5|24|13|2q21.1|SMPD4, NSMASE3, KIAA1418|P|Sphingomyelin phosphodiesterase 4, neutral membrane||610457|REc|||| | ||
2.499|12|4|03|2q21.1-q22|CHDS2|P|Coronary heart disease, susceptibility to, 2||608316|Fd|||{Coronary heart disease, susceptibility to, 2} (2)| | ||
2.500|2|8|11|2q21.1|CCDC115, CCP1|P|Coiled-coil domain-containing protein 115||613734|REc|||| | |1(Ccdc115)|
2.501|5|24|13|2q21.2|LYPD1, PHTS|P|LY6/PLAUR domain-containing protein 1||610450|REc|||| | ||
2.502|3|14|13|2q21.2|NCKAP5, NAP5|P|NCK-associated protein 5||608789|REc|||| | ||
2.503|7|1|13|2q21.3|DARS, HBSL|P|Aspartyl tRNA synthetase||603084|REc|||Hypomyelination with brainstem and spinal cord involvement and|leg spasticity, 615281 (3) | ||
2.504|3|22|06|2q21.3|RAB3GAP1, WARBM1, P130|P|RAB3 GTPase-activating protein, catalytic subunit||602536|REc|||Warburg micro syndrome 1, 600118 (3)| | ||
2.505|5|26|13|2q21.3|UBXD2, KIAA2042, ERASIN|P|UBX domain-containing 2||611216|REc, R|||| | ||
2.506|6|30|08|2q21.1|ARHGEF4, ASEF|P|RHO guanine nucleotide exchange factor 4||605216|A|||| | ||
2.507|7|3|06|2q22.3|GTDC1|P|Glycosyltransferase-like domain containing 1||610165|REc|||| | ||
2.508|12|16|05|2q22.1|HNMT|P|Histamine N-methyltransferase||605238|A, REc|||{Asthma, susceptibility to}, 600807 (3)| | ||
2.509|6|4|98|2q23.3|NEB, NEM2|C|Nebulin||161650|REa, Ch, A, R, Fd|||Nemaline myopathy 2, autosomal recessive, 256030 (3)| | |2(Neb)|
2.510|4|19|07|2q22.3|ZEB2, ZFHX1B, SMADIP1, SIP1|C|Zinc finger E box-binding homeobox 2||605802|Ch|||Mowat-Wilson syndrome, 235730 (3)| | ||
2.511|11|21|02|2p21|KCNK12, THIK2|P|Potassium channel, subfamily K, member 12||607366|REc|||| | ||
2.512|4|6|11|2q23.3|CACNB4, EJM6, EA5, EIG9|C|Calcium channel, voltage-dependent, beta 4 subunit||601949|A, Psh, R|||{Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3);|{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3); Episodic ataxia, type 5, 613855 (3)| |2(Cacnb4)|
2.513|11|16|10|2q24.1|NR4A2, NURR1, NOT, TINUR|P|Nuclear receptor subfamily 4, group A, member 2||601828|A, REa|||| | |2(Nurr1)|
2.514|3|15|11|2q22.3-q23.1|ORC4, ORC4L|P|Origin recognition complex, subunit 4, S. cerevisiae, homolog of||603056|A, REa|||Meier-Gorlin syndrome 2, 613800 (3)| | ||
2.515|8|27|09|2q24.3|GRB14|P|Growth factor receptor-bound protein 14||601524|REc|||| | ||
2.516|5|2|08|2q22-q24|MAFD5|P|Major affective disorder 5||611535|Fd|||{Major affective disorder 5} (2)| | ||
2.517|1|24|09|2q22.3|ACVR2A, ACVR2|P|Activin A receptor, type IIA||102581|A|||| | ||
2.518|5|26|13|2q22.2-q22.3|ARHGAP15, BM046|P|Rho GTPase-activating protein 15||610578|R, REc|||| | ||
2.519|3|27|12|2q31.1|DCAF17, C20orf37|P|DDB1- and CUL4-associated factor 17||612515|REc|||Woodhouse-Sakati syndrome, 241080 (3)| | ||
2.520|1|1|95|2q24.2|DPP4, CD26, ADCP2|C|Dipeptidylpeptidase IV (CD26; adenosine deaminase complexing|protein-2)|102720|S, REa, A|||| | ||
2.521|8|18|98|2q24.2|FAP, FAPA|P|Fibroblast activation protein, alpha subunit||600403|REa, A|||| | ||
2.522|8|1|08|2q23.3|RPRM|P|Reprimo||612171|A|||| | ||
2.523|5|2|06|2q24.1|ACVR1, ACVRLK2, ALK2, FOP|C|Activin A receptor, type I||102576|REa, A|||Fibrodysplasia ossificans progressiva, 135100 (3)| | ||
2.524|2|28|01|2q24.2|BAZ2B|P|Bromodomain adjacent to zinc finger domain, 2B||605683|REa, R|||| | ||
2.525|5|25|00|2q24.2|PLA2R1, PLA2R|P|Phospholipase A2 receptor 1||604939|A|||| | ||
2.526|10|31|08|2q23.3|ARL5|P|ADP-ribosylation factor-like 5||608960|R|||| | ||
2.527|2|11|11|2q24.3|SCN2A, SCN2A1, BFIC3, EIEE11, BFIS3, BFNIS|C|Sodium channel, voltage-gated, type II, alpha subunit||182390|REa, Pcm, A|4 related genes on chr.2||Seizures, benign familial infantile, 3, 607745 (3); Epileptic|encephalopathy, early infantile, 11, 613721 (3) | |2(Scn2a)|
2.528|1|17|01|2q24.2|SLC4A10|C|Solute carrier family 4 (sodium bicarbonate cotransporter-like),|member 10|605556|A, REa, R|||| | ||
2.529|8|9|99|2q23-q24.3|DFNA16|P|Deafness, autosomal dominant 16||603964|Fd|||Deafness, autosomal dominant 16 (2)| | ||
2.530|3|8|00|2q24.2|TBR1|L|T-box, brain, 1||604616|H|||| | |2(Tbr1)|
2.531|4|6|01|2q23-q31|DFNB27|P|Deafness, autosomal recessive 27||605818|Fd|||Deafness, autosomal recessive 27 (2)| | ||
2.532|11|29|99|2q24.1|PKP4|P|Plakophilin-4||604276|A, REa|||| | ||
2.533|8|20|07|2q23.1|EPC2|P|Enhancer of polycomb, Drosophila, homolog of, 2||611000|R, REc|||| | ||
2.534|9|23|13|2q23.1|KIF5C, NKHC2, CDCBM2|P|Kinesin family member 5C||604593|R, REc|mutations identified in 1 family||?Cortical dysplasia, complex, with other brain malformations 2,|615282 (3) | ||
2.535|10|15|07|2q23.1|MBD5, KIAA1461, MRD1|P|Methyl-CpG-binding domain protein 5||611472|R, REc|||Mental retardation, autosomal dominant 1, 156200 (3)| | ||
2.536|4|20|10|2q23.2|LYPD6|P|LY6/PLAUR domain-containing protein 6||613359|REc|||| | ||
2.537|4|8|08|2q23.2|C2orf25, MMADHC|P|Chromosome 2 open reading frame 25||611935|REc|||Homocystinuria, cblD type, variant 1, 277410 (3); Methylmalonic|aciduria, cblD type, variant 2, 277410 (3); Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)| ||
2.538|6|29|99|2q23.3|NMI|P|NMYC interactor||603525|A|previously assigned to 22q13.3||| | ||
2.539|8|17|09|2q23.3|PRPF40A, HYPA, FNBP3, FBP11|P|Precursor mRNA-processing factor 40, S. cerevisiae, homolog of, A||612941|REc|||| | ||
2.540|8|3|12|2q23.3|RND3, RHOE, ARHE|P|RHO family GTPase 3||602924|REc, R|||| | ||
2.541|7|9|06|2q23.3|STAM2|P|Signal-transducing adaptor molecule 2||606244|R, REc|||| | ||
2.542|8|27|09|2q23.3|TNFAIP6|C|Tumor necrosis factor, alpha-induced protein-6||600410|Psh, REc|||| | ||
2.543|1|20|09|2q31.1|ABCB11, BSEP, SPGP, PFIC2, BRIC2|C|ATP-binding cassette, subfamily B, member 11|(bile salt export pump)|603201|Fd, LD, REc|||Cholestasis, progressive familial intrahepatic 2, 601847 (3);|Cholestasis, benign recurrent intrahepatic, 2, 605479 (3) | ||
2.544|9|22|08|2q24.2|CD302, DCL1, KIAA0022|C|CD302 antigen||612246|R, REc|||| | ||
2.545|8|19|13|2q24.3|COBLL1, COBLR1, KIAA0977|P|COBL-like protein 1||610318|REc|||| | |2(Cobll1)|
2.546|2|18|09|2q24.2|IFIH1, MDA5|C|Interferon induced with helicase C domain 1||606951|REc|||| | ||
2.547|12|14|10|2q24.3|SCN1A, GEFSP2, SMEI, FEB3A, EIEE6, FHM3|C|Sodium channel, voltage-gated, type I, alpha polypeptide||182389|REA, A, FD|||Epilepsy, generalized, with febrile seizures plus, type 2, 604403|(3); Dravet syndrome, 607208 (3); Migraine, familial hemiplegic, 3, 609634 (3); Febrile seizures, familial, 3A, 604403 (3)| |2(Scn1a)|
2.548|6|7|94|2q24.3|SCN3A|C|Sodium channel, voltage-gated, type III, alpha polypeptide||182391|H, Psh, A|||| | |2(Scn3a)|
2.549|9|11|12|2q24.3|SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP|C|Sodium channel, voltage-gated, type IX, alpha subunit||603415|REc, Fd|||Erythermalgia, primary, 133020 (3); Insensitivity to pain,|channelopathy-associated, 243000 (3); Paroxysmal extreme pain disorder, 167400 (3); Febrile seizures, familial, 3B, 613863 (3); Epilepsy, generalized,|with febrile seizures plus, type 7, 613863 (3); Small fiber neuropathy, 133020 (3); {Dravet syndrome, modifier of}, 607208 (3)||
2.550|8|24|09|2q31.1|SLC25A12, ARALAR|C|Solute carrier family 25 (mitochondrial carrier, Aralar), member 12||603667|A, REa, R, REc|||Hypomyelination, global cerebral, 612949 (3)| | ||
2.551|11|17|10|2q24.3|GALNT3, HHS, HFTC|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 3|601756|A|||Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)| | ||
2.552|8|21|07|2q31.1|LRP2, DBS|C|Low density lipoprotein-related protein 2||600073|A|||Donnai-Barrow syndrome, 222448 (3)| | ||
2.553|4|15|08|2q31.1|CHRNA1, ACHRD, CMS2A, SCCMS, FCCMS|C|Cholinergic receptor, nicotinic, alpha polypeptide-1, muscle||100690|REa, A|||Myasthenic syndrome, slow-channel congenital, 601462 (3);|Myasthenic syndrome, fast-channel congenital, 608930 (3); Multiple pterygium syndrome, lethal type, 253290 (3)| |2(Acra)|
2.554|7|8|10|2q24-q32|FGQTL1|P|Fasting plasma glucose level QTL 1||612108|Fd|associated with rs560887||[Fasting plasma glucose level QTL 1] (2)| | ||
2.555|7|8|10|2q31.1|G6PC2, IGRP|C|Glucose-6-phosphatase, catalytic, 2||608058|REc, R, H|||| | |2(Igrp)|
2.556|6|15|99|2q24-q32|MMDK, MDK|P|Mesomelic dysplasia, Kantaputra type||156232|Fd|||Mesomelic dysplasia, Kantaputra type (2)| | ||
2.557|1|11|95|2q37.1|NPPC|L|Natriuretic peptide precursor C||600296|H|||| | |1(Nppc)|
2.558|4|22|10|2q24.1|ACVR1C, ALK7|P|Activin A receptor, type IC||608981|A|||| | ||
2.559|8|19|13|2q24.1|ERMN, JN, KIAA1189|P|Ermin||610072|R, REc|||| | ||
2.560|1|27|04|2q23.3-q24.1|GALNT13, KIAA1918|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 13|608369|R, REc|||| | ||
2.561|3|27|09|2q24.1|GPD2|C|Glycerol-3-phosphate dehydrogenase 2 (mitochondrial)||138430|A, Psh, REc|pseudogene on 19||{Diabetes, type 2, susceptibility to}, 125853 (3)| | ||
2.562|12|2|96|2q24.1|KCNJ3, GIRK1|P|Potassium inwardly-rectifying channel, subfamily J, member 3||601534|REa, A, Fd|||| | ||
2.563|5|8|09|2q24.1|SYNSTH|P|Synesthesia||612759|Fd|max lod at D2S142||Synesthesia (2)| | ||
2.564|4|22|10|2q24.1-q31.1|INTLQ2|P|Intelligence quantitative trait locus 3||610295|Fd|||{Intelligence QTL3} (2)| | ||
2.565|4|6|13|2q24.1|GALNT5, GALNACT5|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 5|615129|REc|||| | ||
2.566|8|27|09|2q24.2|GCA|P|Grancalcin||607030|R, REc|||| | ||
2.567|8|27|09|2q24.2|ITGB6|P|Integrin, beta-6||147558|REa, REc|||| | ||
2.568|3|6|08|2q24.2|KCNH7, ERG3, HERG3, Kv11.3|P|Potassium channel, voltage-gated, subfamily H, member 7||608169|R, REc|||| | ||
2.569|6|7|10|2q24.2|MARCH7|P|Membrane-associated RING-CH finger protein 7||613334|REc|||| | ||
2.570|8|27|09|2q24.2|PSMD14, POH1, PAD1|P|Proteasome 26S subunit, non-ATPase, 14||607173|R, REc|||| | ||
2.571|3|18|13|2q24.2|TANK, ITRAF|P|TRAF family member-associated NF-Kappa-B activator||603893|REc|||| | ||
2.572|4|27|09|2q31.1|ZAK, MLTK, MRK|P|Leucine zipper- and sterile alpha motif-containing kinase||609479|R, REc|||| | ||
2.573|8|2|13|2q24.3|CERS6, LASS6|P|Ceramide synthase 6||615336|REc|||| | ||
2.574|12|23|05|2q24.3|CMYA3, XIRP2|P|Cardiomyopathy-associated protein 3||609778|R, REc|||| | ||
2.575|2|18|09|2q24.3|IDDM19|P|Diabetes mellitus, insulin-dependent, 19||610155|Fd|associated with rs1990760||{Diabetes mellitus, insulin-dependent, 19} (2)| | ||
2.576|8|27|09|2q24.3|STK39, SPAK|P|Serine/threonine protein kinase 39||607648|R, REc|||| | ||
2.577|3|31|11|2q24.3|TTC21B, THM1, NPHP12, ATD4|P|Tetratricopeptide repeat domain 21B||612014|REc|||Nephronophthisis 12, 613820 (3); Asphyxiating thoracic dystrophy|4, 613819 (3) | ||
2.578|6|22|99|2q31.2|AGPS, ADHAPS|P|Alkylglycerone-phosphate synthase||603051|A|||Rhizomelic chondrodysplasia punctata, type 3, 600121 (3)| | |2(Agps)|
2.579|6|3|04|2q31.1|BBS5|C|BBS gene 5||603650|REc, Fd|||Bardet-Biedl syndrome 5, 209900 (3)| | ||
2.580|2|28|06|2q31.1|CDCA7, JPO1|P|Cell division cycle-associated 7||609937|A|||| | ||
2.581|7|28|11|2q31.1|GAD1, SCP, CPSQ1|C|Glutamate decarboxylase-1, brain, 67kD||605363|REa, H, A, Psh, Fd, LD|||Cerebral palsy, spastic quadriplegic, 1, 603513 (3)| | |2(Gad1)|
2.582|12|9|98|2q31|IDDM7|P|Insulin-dependent diabetes mellitus-7||600321|H, Fd|||{Diabetes mellitus, insulin-dependent, 7} (2)| | ||
2.583|1|24|01|2q32.1|ITGAV, VNRA|C|Integrin, alpha-V (vitronectin receptor, alpha polypeptide)||193210|REa, A, REc|||| | ||
2.584|5|14|08|2q31.1|LNP, KIAA1715|P|Lunapark||610236|REc, H|||| | |2(Lnp)|
2.585|3|23|09|2q31.1|MIR10B, MIRN10B|P|Micro RNA 10B||611576|REc|||| | ||
2.586|1|7|02|2q33.1|MPP4, DLG6|P|Membrane protein, palmitoylated 4||606575|REc|||| | ||
2.587|5|9|95|2q31.2|NFE2L2, NRF2|P|Nuclear factor, erythroid-derived 2-like 2||600492|A|||| | ||
2.588|10|28|08|2q31|PNKD2|P|Paroxysmal nonkinesigenic dyskinesia 2||611147|Fd|between D2S2188 and D2S364||Paroxysmal nonkinesigenic dyskinesia 2 (2)| | ||
2.589|12|9|09|2q31|SHFM5|P|Split-hand/foot malformation 5||606708|Fd|between EVX2 and D2S294||Split-hand/foot malformation 5 (2)| | ||
2.590|7|1|97|2q31.1|SP3|P|Sp3 transcription factor||601804|Psh, A|||| | ||
2.591|1|18|11|2q31.2|TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC|C|Titin||188840|REa, R|||Cardiomyopathy, familial hypertrophic, 9, 613765 (3); Cardiomyopathy,|dilated, 1G, 604145 (3); Tibial muscular dystrophy, tardive, 600334 (3); Muscular dystrophy, limb-girdle, type 2J, 608807 (3); Myopathy, proximal,|with early respiratory muscle involvement, 603689 (3); Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)|2(Ttn)|
2.592|4|17|01|2q32.1|CALCRL, CGRPR, CRLR|P|Calcitonin receptor-like||114190|R|||| | ||
2.593|1|4|93|2q31.1|EVX2|P|Even-skipped homeo box-2||142991|REn|13kb 5' to HOX4I||| | |2(Evx2)|
2.594|2|26|93|2q31.1|HOXD3, HOX4A|C|Homeo box-D3||142980|RE|||| | |2(Hox4.1)|
2.595|2|26|93|2q31.1|HOXD4, HOX4B|C|Homeo box-D4||142981|A, RE|peak at 2q32.3 by A||{Leukemia, acute lymphoblastic, susceptibility to} (3)| | |2(Hox4.2)|
2.596|2|26|93|2q31.1|HOXD9, HOX4C|C|Homeo box-D9||142982|RE|||| | |2(Hox4.3)|
2.597|7|19|04|2q31.1|HOXD10, HOX4D|C|Homeo box-D10||142984|REa, RE|||Vertical talus, congenital, 192950 (3); Charcot-Marie-Tooth|disease, foot deformity of, 192950 (3) | |2(Hox4.4)|
2.598|2|26|93|2q31.1|HOXD8, HOX4E|C|Homeo box-D8||142985|RE|||| | |2(Hox4.5)|
2.599|2|26|93|2q31.1|HOXD11, HOX4F|C|Homeo box-D11||142986|RE|||| | |2(Hox4.6)|
2.600|2|26|93|2q31.1|HOXD1, HOX4G|C|Homeo box-D1||142987|RE|||| | |2(Hox4.7)|
2.601|2|26|93|2q31.1|HOXD12, HOX4H|P|Homeo box-D12||142988|REc|upstream from HOX4A-G||| | |2(Hox4.8)|
2.602|9|19|09|2q31.1|HOXD13, HOX4I, SPD, BDSD|C|Homeo box-D13||142989|REc, Fd|upstream from HOX4A-G||Synpolydactyly, type II, 186000 (3); Brachydactyly, type E, 113300|(3); Brachydactyly, type D, 113200 (3); Synpolydactyly with foot anomalies, 186000 (3); Syndactyly, type V, 186300 (3); Brachydactyly-syndactyly syndrome,|610713 (3); VACTERL association, 192350 (3) |2(Hox4.9)|
2.603|7|16|92|2q31.3|ITGA4, CD49D|C|Integrin, alpha-4 (antigen CD49D, alpha-4 subunit of VLA-4 receptor)||192975|Psh, A|||| | ||
2.604|9|23|08|2q31.1|CHN1, CHN, ARHGAP2, RHOGAP2, DURS2|C|Chimerin 1 (GTPase-activating protein, rho, 2)||118423|REa, A, Fd|||Duane retraction syndrome 2, 604356 (3)| | ||
2.605|12|30|92|2q32.1|TFPI, LACI|C|Tissue factor pathway inhibitor (lipoprotein-associated coagulation|inhibitor)|152310|REa, A|||| | ||
2.606|4|15|09|2q32.1|FRZB, FRZB1, SRFP3, OS1|P|Frizzled-related protein||605083|REc|||{Osteoarthritis susceptibility 1}, 165720 (3)| | ||
2.607|11|19|11|2q32.2|PMS1, PMSL1, HNPCC3|P|Postmeiotic segregation increased, S. cerevisiae, like 1||600258|REa, A|||| | ||
2.608|9|22|08|2q31.1|ATP5G3|P|ATP synthase, mitochondrial, C subunit-3||602736|REa, REc|||| | ||
2.609|9|10|12|2q31.1|CIR1|P|CBF1-interacting corepressor||605228|REc|||| | ||
2.610|8|18|08|2q31.1|DHRS9, RDHTBE|P|Short-chain dehydrogenase/reductase family, member 9||612131|REc|||| | ||
2.611|1|5|11|2q31.1|DUP2q31.1, C2DUPq31.1|P|Chromosome 2q31.1 duplication syndrome||613681|Ch|duplication of 9 HOXD genes and MTX2||Chromosome 2q31.1 duplication syndrome (4)| | ||
2.612|2|21|06|2q31.1|DYNC1I2, DNCI2, IC2|P|Dynein, cytoplasmic-1, intermediate chain-2||603331|REc, H|||| | |2(Dnci2)|
2.613|1|10|09|2q31.1|ITGA6|P|Integrin, alpha-6||147556|REa, REc|||Epidermolysis bullosa, junctional, with pyloric stenosis, 226730|(3) | ||
2.614|12|26|13|2q31.1|KLHL41, KBTBD10, SARCOSIN|P|Kelch-like family member 41||607701|R, REc|||| | ||
2.615|8|3|12|2q31.1|METAP1D, MAP1D|P|Methionyl aminopeptidase type 1D (mitochondrial)||610267|REc|||| | ||
2.616|4|17|12|2q31.1|MTX2|P|Metaxin 2||608555|REc|||| | ||
2.617|3|3|03|2q24.3-q31.1|NOSTRIN|P|Nitric oxide synthase trafficker||607496|REc|||| | ||
2.618|8|30|11|2q31.1|OLA1, GTBP9|P|OBG-like ATPase 1||611175|REc|||| | ||
2.619|9|9|13|2q31.1|PDK1|P|Pyruvate dehydrogenase kinase, isoenzyme 1||602524|REc|||| | ||
2.620|8|27|09|2q31.1|PPIG|P|Peptidyl-prolyl isomerase G (cyclophilin G)||606093|R, REc|||| | ||
2.621|12|17|12|2q31.1|SCRN3, SES3|P|Secernin 3||614967|REc|||| | ||
2.622|4|28|10|2q31.1|SSB, LARP3|P|Sjogren syndrome antigen B||109090|A, Psh, REc|||| | ||
2.623|3|31|11|2q31.1|UBR3|P|Ubiquitin protein ligase E3 component N-recognin 3||613831|REc|||| | |3(Ubr3)|
2.624|2|24|12|2q31.1|WIPF1, WASPIP, WIP|P|WAS/WASL-interacting protein family, member 1||602357|REc|||Wiskott-Aldrich syndrome 2, 614493 (3)| | ||
2.625|4|24|06|2q31.1|MYO3B|P|Myosin IIIB||610040|REc|||| | ||
2.626|6|30|06|2q31.2|PJVK, DFNB59|P|Pejvakin||610219|Fd|||Deafness, autosomal recessive 59, 610220 (3)| | ||
2.627|2|1|11|2q31.2|HNRPA3, D10S102, FBRNP|P|Heterogeneous nuclear ribonucleoprotein A3||605372|REc, REn|||| | ||
2.628|3|8|07|2q31.2|PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2|P|Phosphodiesterase 11A||604961|REc, Fd|||Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)| | ||
2.629|3|18|08|2q31.2|PLEKHA3, FAPP1|P|Pleckstrin homology domain-containing protein, family A, member 3||607774|REc|||| | ||
2.630|10|27|08|2q31.2-q31.3|ZNF385B, ZFN533|P|Zinc finger protein 385B||612344|REc|||| | ||
2.631|10|27|08|2q31.2|DEL2q31|P|Chromosome 2q31.2 deletion syndrome||612345|Ch|contiguous gene deletion syndrome||Chromosome 2q31.2 deletion syndrome (4)| | ||
2.632|11|4|98|2q31.1|HAT1|P|Histone acetyltransferase-1||603053|TM|||| | ||
2.633|2|27|13|2q31.3|CERKL, RP26|P|Ceramide kinase-like||608381|REc|||Retinitis pigmentosa 26, 608380 (3)| | ||
2.634|5|6|13|2q31.3|CWC2, KIAA1604, NCM|P|CWC22 spliceosome-associated protein, X. cerevisiae, homolog of||615186|REc|||| | ||
2.635|2|21|12|2q31.3|MIR1258|C|Micro RNA 1258||614488|REc|on opposite strand from ZNF385B||| | ||
2.636|2|24|12|2q33.1|NDUFB3|P|NADH-ubiquinone oxidoreductase 1 beta subcomplex, 3||603839|R|pseudogenes on chr. 1, 9, and 14||Mitochondrial complex I deficiency, 252010 (3)| | ||
2.637|6|24|08|2q31.2|PRKRA, PACT, RAX, DYT16|C|Protein kinase, interferon-inducible double-stranded RNA-dependent|activator|603424|REc|||Dystonia 16, 612067 (3)| | ||
2.638|12|27|13|2q31.3|SCHLAP1, PCAT114, LINC00913|P|SWI/SNF complex antagonist associated with prostate cancer 1,|noncoding|615568|REc|||| | ||
2.639|8|8|13|2q31.3|SSFA2, CS1|P|Sperm-specific antigen 2||118990|REc|||| | ||
2.640|11|7|01|2q31.1|ATF2, CREB2|C|Activating transcription factor 2||123811|REa, A|||| | ||
2.641|1|8|95|2q31.1|DLX1|P|Distal-less homeo box-1||600029|REa, A, H|||| | ||
2.642|1|8|95|2q31.1|DLX2, TES1|C|Distal-less homeo box-2||126255|REa, A|||| | |2(Dlx2)|
2.643|1|15|96|2q32.2|INPP1|P|Inositol polyphosphate-1-phosphatase||147263|Psh, A|||| | |1(Inpp1)|
2.644|5|11|00|2q33.3|KLF7, UKLF|P|Kruppel-like factor 7||604865|A|||| | ||
2.645|8|27|09|2q32.3|MYO1B|P|Myosin IB||606537|R, REc|||| | ||
2.646|11|4|99|2q31.3|NEUROD1, NIDDM|C|Neurogenic differentiation 1||601724|A|||{Diabetes mellitus, noninsulin-dependent}, 125853 (3);|Maturity-onset diabetes of the young 6, 606394 (3) | |2(Neurod)|
2.647|11|30|00|2q32.3|PCGEM1|P|Prostate-specific gene PCGEM1||605443|A|||| | ||
2.648|3|17|03|2q32.2|SLC40A1, SLC11A3, FPN1, IREG1, HFE4|C|Solute carrier family 40 (iron-regulated transporter), member 1||604653|A|||Hemochromatosis, type 4, 606069 (3)| | |1(Slc11a3)|
2.649|3|1|02|2q32.3|SDPR, SDR|P|Serum deprivation response phosphatidylserine-binding protein||606728|A|||| | ||
2.650|10|7|08|2q32-q33|DEL2q32q33, C2DELq32q33|P|Chromosome 2q32-q33 deletion syndrome||612313|Ch|contiguous gene deletion syndrome||Chromosome 2q32-q33 deletion syndrome (4)| | ||
2.651|5|29|01|2q32.3|TMEFF2, HPP1, TR|P|Transmembrane protein with EGF-like and 2 follistatin-like domains 2||605734|A|||| | ||
2.652|1|11|89|2q34|RPE|C|Ribulose 5-phosphate 3-epimerase||180480|S, D|||| | ||
2.653|8|8|91|2q32.2|GLS, GLS1|P|Glutaminase||138280|REa, A|||| | |1(Gls)|
2.654|12|5|03|2q32.1|NUP35, NP44|P|Nucleoporin, 35kD||608140|R, REc|||| | ||
2.655|5|7|03|2q31.2|OSBPL6, ORP6|C|Oxysterol-binding protein-like protein 6||606734|REc|||| | ||
2.656|8|30|09|2q32.1|PDE1A|P|Phosphodiesterase-1A||171890|REc|||| | ||
2.657|2|21|10|2q31.3|PPP1R1C, IPP5|P|Protein phosphatase 1, regulatory subunit 1C||613240|REc|||| | ||
2.658|9|10|09|2q32.1|SCZD14|P|Schizophrenia 14||612361|associated with rs1344706|||{Schizophrenia, susceptibility to, 14} (2)| | ||
2.659|10|19|99|2q31.3|UBE2E3, UBCH9|C|Ubiquitin-conjugating enzyme E2E 3||604151|A, REa, R|||| | ||
2.660|9|23|08|2q32.1|ZNF804A, C2orf10|P|Zinc finger protein 804A||612282|REc|||| | ||
2.661|5|11|00|2q32.1|NCKAP1, NAP1|C|NCK-associated protein 1||604891|REa, A|||| | ||
2.662|10|27|97|2q32.1-q32.3|ARVD4|P|Arrhythmogenic right ventricular dysplasia 4||602087|Fd|||Arrhythmogenic right ventricular dysplasia 4 (2)| | ||
2.663|4|10|90|2q34|MYL1|C|Myosin, light polypeptide-1, alkali; skeletal, fast||160780|REa, H|||| | |1(Mylt)|
2.664|3|15|13|2q32.2|C2orf88, SMAKAP|P|Small membrane protein kinase A-anchoring protein||615117|REc|||| | ||
2.665|12|27|13|2q32.2|COL3A1|C|Collagen III, alpha-1 polypeptide||120180|REa, A|in same 35kb segment as COL5A2||Ehlers-Danlos syndrome, type IV, 130050 (3); Ehlers-Danlos syndrome,|type III, 130020 (3) | |1(Col3a1)|
2.666|12|27|13|2q32.2|COL5A2|C|Collagen V, alpha-2 polypeptide||120190|REa, A|very close to COL3A1||Ehlers-Danlos syndrome, type I, 130000 (3)| | ||
2.667|12|23|05|2q32.2|FLJ25415|P|FLJ25415 gene||609803|REc|||| | ||
2.668|8|13|11|2q32.2|GDF8, MSTN, MSLHP|P|Growth differentiation factor-8 (myostatin)||601788|H, R|||Muscle hypertrophy, 614160 (3)| | |1(Cmpt, Gdf8)|
2.669|1|8|07|2q32.2|HIBCH|P|3-hydroxyisobutyryl-CoA hydrolase||610690|REc|||3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)| | ||
2.670|9|29|10|2q32.2|MFSD6, MMR2|P|Major facilitator superfamily domain-containing protein 6||613476|REc|||| | ||
2.671|4|7|10|2q32.2|ORMDL1|P|ORM1-like protein 1||610073|REc|pseudogene on 10p14||| | ||
2.672|1|29|07|2q33.1|SUMO1, UBL1, SMT3, OFC10|C|Small ubiquitin-like modifier 1||601912|A, Ch|||Orofacial cleft 10, 613705 (3)| | |1(Sumo1)|
2.673|8|12|11|2q32.2|STAT1, CANDF7|P|Signal transducer and activator of transcription-1||600555|A|||Mycobacterial infection, atypical, familial disseminated, 209950 (3);|Mycobacterial and viral infections, susceptibility to, autosomal recessive, 613796 (3); Candidiasis, familial, 7, 614162 (3)| |1(Stat1)|
2.674|7|18|12|2q32.2-q32.3|STAT4, SLEB11|P|Signal transducer and activator of transcription-4||600558|A|||{Systemic  lupus erythematosus, susceptitbility to, 11},  612253 (3)| | |1(Stat4)|
2.675|2|3|06|2q32.1-q32.2|GULP1, CED6|P|PTB domain-containing engulfment adaptor protein 1||608165|REc|||| | ||
2.676|6|26|08|2q32.3|OBFC2A, SSB2|P|Oligonucleotide/oligosaccharide-binding fold-containing protein 2A||612103|REc|||| | ||
2.677|5|4|12|2q32.3|STK17B, DRAK2|P|Serine/threonine protein kinase 17b||604727|REc|||| | ||
2.678|4|23|98|2q32.2|NAB1|P|NGFI-A-binding protein, ERG1-binding protein||600800|A|||| | |1(Nab1)|
2.679|7|10|08|2q33.3|CREB1|C|cAMP-response element-binding protein-1||123810|REa, A|fusion gene with EWSR1||Histiocytoma, angiomatoid fibrous, somatic, 612160 (3)| | |1(Creb1)|
2.680|7|1|02|2q33.3|ADAM23, MDC3|P|A disintegrin and metalloproteinase domain 23||603710|R|||| | ||
2.681|9|21|12|2q33.1|ALS2, ALSJ, PLSJ, IAHSP|C|Alsin||606352|Fd, REc|||Amyotrophic lateral sclerosis 2, juvenile, 205100 (3); Primary|lateral sclerosis, juvenile, 606353 (3); Spastic paralysis, infantile onset ascending, 607225 (3)| ||Hentati (1992)
2.682|2|27|03|2q33.2|ALS2CR8, CARF|P|Amyotrophic lateral sclerosis 2 chromosome region, candidate 8|(calcium response factor)|607586|REc|||| | ||
2.683|7|14|98|2q33.1|AOX1|C|Aldehyde oxidase-1||602841|Psh, A|||| | ||
2.684|4|8|13|2q35|BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1|C|bcs1, S. cerevisiae, homolog-like||603647|REc, Fd, LD|||Mitochondrial complex III deficiency, nuclear type 1, 124000 (3);|Leigh syndrome, 256000 (3); Bjornstad syndrome, 262000 (3); GRACILE syndrome, 603358 (3)| ||
2.685|8|2|13|2q33.1-q33.2|BMPR2, PPH1|C|Bone morphogenetic receptor, type II||600799|Fd|||Pulmonary hypertension, familial primary, 1, with or without|HHT, 178600 (3); Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3);|Pulmonary venoocclusive disease, 265450 (3) ||
2.686|7|26|10|2q33.1|BOLL, BOULE|P|BOL-like (Boule, Drosophila, homolog of)||606165|R, A, H|||| | |1(Boule)|
2.687|2|6|12|2q33.1|CASP8, MCH5, ALPS2B|C|Caspase 8, apoptosis-related cysteine protease||601763|A|||Immunodeficiency due to CASP8 deficiency, 607271 (3);|Hepatocellular carcinoma, somatic, 114550 (3); {Breast cancer, protection against}, 114480 (3); {Lung cancer, protection against}, 211980 (3)| |1(Casp8)|
2.688|12|7|07|2q33.1|CFLAR, FLIP, CASPER, FLAME1, CASH|P|CASP8- and FADD-like apoptosis regulator||603599|A, R|||| | ||
2.689|8|16|99|2q33.1|CLK1, CLK, STY|P|CDC-like kinase 1||601951|A|||| | ||
2.690|10|14|09|2q33.2|CTLA4, IDDM12, CELIAC3, GRD4|C|Cytotoxic T-lymphocyte-associated serine esterase-4||123890|A, REn|||{Graves disease, susceptibility to, 4} (3); {Hypothyroidism,|autoimmune}, 140300 (3); {Diabetes mellitus, insulin-dependent, susceptibility to}, 601388 (3); {Celiac disease, susceptibility to, 3}, 609755 (3)| |1(Ctla4)|
2.691|11|6|01|2q32.2|DIRC1|P|Disrupted in renal cancer 1||606423|REc|||| | ||
2.692|1|12|99|2q33.1|FZD7|P|Frizzled, Drosophila, homolog of, 7||603410|A|||| | ||
2.693|1|30|01|2q33.2|ICOS, AILIM, CVID1|P|Inducible costimulator||604558|R|||Immunodeficiency, common variable, 1, 607594 (3)| | ||
2.694|4|19|01|2q33.1|NIF3L1|P|Ngg1 interacting factor 3, S. pombe, homolog of, like 1||605778|REc|||| | |1(Nif3l1)|
2.695|4|9|96|2q33.1|ORC2, ORC2L|P|Origin recognition complex, subunit 2, S. cerevisiae, homolog of||601182|A|||| | ||
2.696|2|18|02|2q33.1|PLDL1, PLCE, PLCL|P|Phospholipase C-like 1||600597|RE|||| | ||
2.697|10|21|96|2q34|PTHR2|P|Parathyroid hormone receptor 2||601469|A|||| | ||
2.698|2|28|07|2q33|RLS4|P|Restless legs syndrome, susceptibility to, 4||610439|Fd|between D2S311 and D2S317||{Restless legs syndrome 4} (2)| | ||
2.699|11|13|07|2q33.1|SATB2, KIAA1034|C|Special AT-rich sequence-binding protein 2||608148|REc|||Cleft palate and mental retardation, 119540 (3)| | ||
2.700|10|29|02|2q33.1|CASP10, MCH4, ALPS2|P|Caspase 10, apoptosis-related cysteine protease||601762|Psh, REc, A|||Autoimmune lymphoproliferative syndrome, type II, 603909 (3);|Non-Hodgkin lymphoma, somatic, 605027 (3); Gastric cancer, somatic, 613659 (3) | ||
2.701|8|24|92|2q33.2|CD28|C|CD28 antigen (Tp44)||186760|A, REn|||| | |1(Cd28)|
2.702|4|15|08|2q37.1|CHRND, ACHRD, SCCMS, CMS2A, FCCMS|C|Cholinergic receptor, nicotinic, delta polypeptide||100720|H, REa, A, LD, RE|linked to Idh-1 in mouse||Myasthenic syndrome, slow-channel congenital, 601462 (3);|Myasthenic syndrome, fast-channel congenital, 608930 (3); Multiple pterygium syndrome, lethal type, 253290 (3)| |1(Acrd)|
2.703|7|18|06|2q37.1|CHRNG, ACHRG|C|Cholinergic receptor, nicotinic, gamma polypeptide||100730|H, REa, LD, RE, Fd|tightly linked to CHRND by RE||Myasthenia gravis, neonatal transient (2); Escobar syndrome, 265000|(3); Multiple pterygium syndrome, lethal type, 253290 (3) | |1(Acrg)|
2.704|5|14|04|2q33.3|EEF1B2, EEF1B1|P|Eukaryotic translation elongation factor-1, beta-2||600655|Psh|pseudogene on chr.15||| | ||
2.705|7|1|97|2q33.3|FZD5|L|Polarity gene 'frizzled,' Drosophila, homolog of||601723|H|||| | |1(Mfz5)|
2.706|12|5|91|2q35|IGFBP2|C|Insulin-like growth factor-binding protein-2, 36kD||146731|REa, A|||| | |1(Igfbp2)|
2.707|1|5|06|2q33.2|NBEAL1, ALS2CR17|P|Neurobeachin-like 1||609816|REc|||| | ||
2.708|8|25|04|2q33.3|NDUFS1|P|NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kD||157655|A|||Mitochondrial complex I deficiency, 252010 (3)| | ||
2.709|1|21|10|2q33-q34|SPAX3, ARSAL|P|Ataxia, spastic 3, autosomal recessive||611390|Fd|between D2S273 and D2S2321||Ataxia, spastic, 3, autosomal recessive (2)| | ||
2.710|5|19|09|2q33.1|STRADB, ILPIP, ALS2CR2|P|STE20-related kinase adaptor beta||607333|REn|pseudogenes on chromosomes 1 and 9||| | ||
2.711|2|28|06|2q33.1|TRAK2, GRIF1, ALS2CR3, KIAA0549, OIP98|C|Gamma-aminobutyric acid receptor-interacting factor 1||607334|REn|||| | ||
2.712|5|22|91|2q33-q35|CHE2|P|Cholinesterase, serum, 2||177500|F|linkage to chr. 16 markers?||| | ||
2.713|4|4|00|2q34|CRYGA, CRYG1|C|Crystallin, gamma A||123660|REa, A|||| | |1(Cryg1)|
2.714|9|12|13|2q34|CRYGB, CRYG2, CTRCT39|C|Crystallin, gamma B||123670|REa, A|||Cataract 39, multiple types, autosomal dominant, 615188 (3)| | |1(Len2)|
2.715|5|3|13|2q33.3|CRYGC, CRYG3, CTRCT2, CCL|C|Crystallin, gamma C||123680|REa, A|||Cataract 2, multiple types, 604307 (3)| | ||
2.716|5|3|13|2q33.3|CRYGD, CRYG4, CTRCT4, CACA, CCA3, PCC|C|Crystallin, gamma D||123690|REa, A|||Cataract 4, multiple types, 115700 (3)| | |1(Crygd, Lop2)|
2.717|1|29|04|2q35|IHH, BDA1|C|Indian hedgehog||600726|REa, A, Fd|||Acrocapitofemoral dysplasia, 607778 (3); Brachydactyly, type A1,|112500 (3) | ||
2.718|2|28|06|2q36.1|PI7, PN1, SERPINE2|P|Protease inhibitor 7 (protease nexin I)||177010|REa, M|near MYL1; ?COPD susceptibility||| | ||
2.719|10|10|11|2q33-q36|EJM9|P|Epilepsy, juvenile myoclonic, susceptiblity to, 9||614280|Fd|max lod at D2S2248||{Epilepsy, juvenile myoclonic, susceptiblity to, 9} (2)| | ||
2.720|10|26|99|2q35|IGFBP5, IBP5|L|Insulin-like growth factor-binding protein 5||146734|H|||| | |1(Igfbp5)|
2.721|1|4|93|2q35|INHA|C|Inhibin, alpha||147380|REa, RE|proximal to PAX3||| | |1(Inha)|
2.722|8|29|02|2q36.3|CCL20, SCYA20, MIP3A, LARC|P|Chemokine, C-C motif, ligand 20||601960|R, Psh|||| | ||
2.723|8|18|98|2q35|CYP27A1, CYP27, CTX|P|Cytochrome P450, subfamily XXVIIA, polypeptide 1 (sterol|27-hydroxylase)|606530|REa|||Cerebrotendinous xanthomatosis, 213700 (3)| | |1(Cyp27)|
2.724|2|18|09|2q33.1|ANIB9|P|Aneurysm, intracranial berry, 9||612586|Fd|associated with rs700651||{Aneurysm, intracranial berry, 9} (2)| | ||
2.725|10|26|11|2q33.1|FONG|P|Formininotransferase N-terminal subdomain-containing gene||614308|REc|||| | ||
2.726|4|27|12|2q33.1|HSPD1, SPG13, HSP60, HLD4|C|Heat-shock 60kD protein 1||118190|Fd, REn, A|||Spastic paraplegia 13, autosomal dominant, 605280 (3);|Leukodystrophy, hypomyelinating, 4, 612233 (3) | ||
2.727|9|4|02|2q33.1|HSPE1, HSP10|C|Heat-shock 10kD protein||600141|REn|||| | ||
2.728|11|28|05|2q33.1|MARS2|P|Methionyl-tRNA synthetase 2||609728|R, REc|||| | ||
2.729|2|1|11|2q33.1|MOBKL3, PREI3, MOB1, MOB3|P|MOB1, Mps One Binder kinase activator-like 3, yeast, homolog of||609361|R, REc|||| | ||
2.730|12|18|07|2q33.1|PGAP1|P|Post GPI attachment to proteins 1||611655|REc|||| | ||
2.731|10|26|11|2q33.1|SF3B1, SF3B155, SAP155, MDS|P|Splicing factor 3B, subunit 1||605590|R, REc|||Myelodysplastic syndrome, somatic, 614286 (3)| | |1(Sf3b1)|
2.732|12|4|08|2q33.1|SGOL2, SGO2, TRIPIN|P|Shugoshin-like 2||612425|REc|||| | ||
2.733|4|15|11|2q33.1|SPATS2L, SGNP|P|Spermatogenesis-associated serine-rich protein 2-like||613817|REc|||| | ||
2.734|1|18|12|2q33.1|TMEM237, ALS2CR4, JBTS14|P|Transmembrane protein 237||614423|REc|||Joubert syndrome 14, 614424 (3)| | ||
2.735|11|4|13|2q33.3|FASTKD2, KIAA0971|P|FAST kinase domains 2||612322|R, REc|mutation identified in 1 family||?Mitochondrial complex IV deficiency, 220110 (3)| | ||
2.736|2|6|07|2q33.3|GPR1|P|G protein-coupled receptor-1||600239|R|conflicting assignment to 15q21.6||| | ||
2.737|6|4|13|2q33.3|METTL21A, FAM119A|P|Methyltransfearse-like 21A||615257|REc|||| | ||
2.738|4|15|09|2q33.3|OS4, GOA1|P|Osteoarthritis susceptibility 4||610839|Fd|max lod at D2S2358||{Osteoarthritis susceptibility 4} (2)| | ||
2.739|1|14|13|2q34|IDH1|C|Isocitrate dehydrogenase, soluble||147700|S, D|||{Glioma, susceptibility to, somatic}, 137800 (3)| | |1(Idh1)|
2.740|1|18|13|2q35|ABCA12, ARCI4A, ARCI4B, ICR2B, LI2|C|ATP-binding cassette, subfamily A, member 12||607800|R, H, Fd|||Ichthyosis, congenital, autosomal recessive 4A, 601277 (3);|Ichthyosis, autosomal recessive 4B (harlequin), 242500 (3) | |1(Abca12)|
2.741|11|22|13|2q34|C2orf80, GONDA1|P|Chromosome 2 open reading frame 80||615536|REc|||| | ||
2.742|8|24|04|2q35|CTDSP1, NLIIF, SCP1|P|C-terminal domain of RNA polymerase II polypeptide A, small|phosphatase of, 1|605323|REc|||| | ||
2.743|11|19|13|2q34|ERBB4, HER4, ALS19|P|Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4||600543|A|||Amyotrophic lateral sclerosis 19, 615515 (3)| | ||
2.744|9|8|11|2q35|FN1, FN, LETS, FNZ, GFND2|C|Fibronectin-1||135600|S, REa, A|||Glomerulopathy with fibronectin deposits 2, 601894 (3);|Plasma fibronectin deficiency, 614101 (1) | |1(Fn1)|
2.745|8|24|12|2q34|KANSL1L, C2orf67, MSL1V2|P|KAT8 regulatory NSL complex subunit 1-like||613833|REc|||| | ||
2.746|9|5|01|2q34|LANCL1, GPR69A|C|LanC-like 1 (G protein-coupled receptor 69A)||604155|R, A|||| | ||
2.747|12|9|98|2q34|IDDM13|P|Insulin-dependent diabetes mellitus-13||601318|Fd|||{Diabetes mellitus, insulin-dependent, 13} (2)| | ||
2.748|2|23|12|2q34|IKZF2, ANF1A2, HELIOS|P|Ikaros family zinc finger 2||606234|REc|||| | ||
2.749|5|25|00|2q33.3|NRP2, VEGF1265R2, NPN2|P|Neuropilin 2||602070|REa, R|||| | ||
2.750|8|1|08|2q34|SPAG16, PF20|P|Sperm-associated antigen 16||612173|A, H|||| | |1(Spag16)|
2.751|1|10|89|2q34|TCL4|P|T-cell leukemia/lymphoma-4||186860|Ch, RE|||Leukemia/lymphoma, T-cell (2)| | ||
2.752|4|27|11|2q34|ACADL, LCAD|P|Acyl-Coenzyme A dehydrogenase, long chain||609576|A|||| | |1(Acadl)|
2.753|9|18|08|2q36.1|ACSL3, FACL3, ACS3|C|Acyl-CoA synthetase long-chain family member 3||602371|Psh, A|||| | ||
2.754|10|4|05|2q35|BARD1|C|BRCA1-associated RING domain 1||601593|Psh, REc|||{Breast cancer, susceptibility to}, 114480 (3)| | ||
2.755|10|23|87|2q34|MAP2|P|Microtubule-associated protein-2||157130|REa, A|||| | ||
2.756|12|11|02|2q34-q35|SLEN2|P|Systemic lupus erythematosus with nephritis, susceptibility to, 2||607966|Fd|||{Systemic lupus erythematosus with nephritis, susceptibility to, 2}|(2) | ||
2.757|6|19|00|2q35|ZNF142|C|Zinc finger protein-142||604083|R, A|||| | ||
2.758|12|7|95|2q35|CRYBA2|P|Crystallin, beta A2||600836|REa|||| | |1(cryba2)|
2.759|9|19|13|2q34-q36|CUP2q35, C2DUPq35, SDTY1, SD1|P|Chromosome 2q35 duplication syndrome (syndactyly, type I)||185900|Fd|||Syndactyly, type 1 (4); Craniosynostosis, Philadelphia type,|185900 (4) | ||
2.760|1|24|02|2q35|SMARCAL1, HARP, SIOD|P|SWI/SNF related, matrix associated, actin dependent regulator of|chromatin, subfamily A-like|606622|REc|||Schimke immunoosseous dysplasia, 242900 (3)| | |1(Smarcal1)|
2.761|1|16|07|2q37.3|AQP12A, AQPX2, AQP12|C|Aquaporin 12A||609789|REc|||| | ||
2.762|5|25|13|2q35|AAMP|P|Angio-associated migratory cell protein||603488|REc|||| | ||
2.763|2|1|11|2q35|ARPC2, ARC34|P|Actin-related protein 2/3 complex, subunit 2||604224|REc|||| | ||
2.764|8|29|08|2q35|ATG9A, APG9L1|P|Autophagy 9, S. cerevisiae, homolog of, A||612204|REc|||| | ||
2.765|6|7|04|2q35|ATIC, PURH, AICAR|P|5-aminoimidazole-4-carboxyamide ribonucleotide formyltransferase/IMP|cyclohydrolase|601731|REc|||AICA-ribosiduria due to ATIC deficiency, 608688 (3)| | ||
2.766|3|3|09|2q34|C2orf21, KIAA1843, UNC80|P|Chromosome 2open reading fram 21||612636|R, REc|||| | ||
2.767|10|5|11|2q35|CCDC108|P|Coiled-coil domain-containing protein 108||614270|REc|||| | ||
2.768|1|24|01|2q35|CDK5R2, NCK5AI|P|Cyclin-dependent kinase 5, regulatory subunit 2||603764|A|||| | ||
2.769|9|12|13|2q34|CPS1, PHN|C|Carbamoyl-phosphate synthetase 1, mitochondrial||608307|REa, Fd, A|urea cycle enzyme||Carbamoylphosphate synthetase I deficiency, 237300 (3); {Pulmonary|hypertension, neonatal, susceptibility to}, 615371 (3); {Venoocclusive disease after bone marrow transplantation} (3)| |1(Cps)|
2.770|7|8|11|2q35|CXCR1, IL8RA|C|Chemokine, CXC motif, receptor 1||146929|REa, A, Psh|||{AIDS, slow progression to}, 609423 (3)| | ||
2.771|2|8|11|2q35|CXCR2, IL8RB, IL8R2|C|Chemokine, CXC motif, receptor 2||146928|A, REa, Psh|||| | |1(Il8r2)|
2.772|8|2|13|2q35|DES, CMD1I, MFM1, SCPNK, ARVD7, ARVC7, LGMD2R|C|Desmin||125660|REa, A|1 family with LGMD2R identified with mutation||Myopathy, myofibrillar, 1, 601419 (3);|Cardiomyopathy, dilated, 1I, 604765 (3); Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3); ?Muscular dystrophy, limb-girdle, type 2R, 615325 (3)| |1(Des)|
2.773|10|2|13|2q35|DNAJB2, HSJ1, HSPF3, DSMA5|P|DnaJ, E. coli, homolog of, subfamily B, member 2|(heat-shock protein, DNAJ-like 1)|604139|R, REc|||Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3)| | ||
2.774|11|19|13|2q35|GMPPA, AAMR|P|GDP-mannose pyrophosphorylase A||615495|REc|||Alacrima, achalasia, and mental retardation syndrome, 615510 (3)| | ||
2.775|6|2|06|2q35|GPBAR1, BG37|P|G protein-coupled bile acid receptor 1||610147|REc|||| | ||
2.776|6|7|10|2q35|MARCH4, RNF174, KIAA1399|P|Membrane-associated RING-CH finger protein 4||608208|R, REc|||| | ||
2.777|3|23|09|2q35|MIR26B, MIRN26B|P|Micro RNA 26B||612152|REc|||| | ||
2.778|3|23|09|2q35|MIR375, MIRN375|P|Micro RNA 375||611173|REc|||| | ||
2.779|5|31|05|2q35|MR1, TAHCCP2, KIPP1184, BRP17, PNKD, FPD1, PDC, DYT8|C|Myofibrillogenesis regulator 1||609023|Fd, REc|||Paroxysmal nonkinesigenic dyskinesia, 118800 (3)| | ||
2.780|1|2|08|2q35|MREG, DSU|P|Melanoregulin||609207|REc, H|||| | |1(Dsu)|
2.781|2|10|04|2q35|MTBS1|P|Mycobacterium tuberculosis, susceptibility to infection by||607949|Fd|||{Tuberculosis, susceptibility to} (2)| | ||
2.782|9|22|09|2q35|NBLST5|P|Neuroblastoma, susceptibility to, 5||613016|Fd|associated with rs6435862, rs3768716||{Neuroblastoma, susceptibility to, 5} (2)| | ||
2.783|1|14|09|2q35|NHEJ1, XLF|P|Nonhomologous end-joining factor 1||611290|REc|||Severe combined immunodeficiency with microcephaly, growth|retardation, and sensitivity to ionizing radiation, 611291 (3) | ||
2.784|8|24|09|2q35|OBSL1, KIAA0657, 3M2|C|Obscurin-like 1||610991|R, REc|||3-M syndrome 2, 612921 (3)| | ||
2.785|8|27|09|2q35|PECR, TERP|P|Peroxisomal trans-2-enoyl-CoA reductase||605843|REc|||| | ||
2.786|1|28|10|2q34|PIKFYVE, PIP5K3|C|Phosphatidylinositol kinase, FYVE-finger containing||609414|Fd, REc|||Corneal fleck dystrophy, 121850 (3)| | ||
2.787|11|19|09|2q35|PRKAG3|P|Protein kinase, AMP-activated, noncatalytic, gamma 3||604976|REc|||| | ||
2.788|5|4|09|2q35|RESP18|P|Regulated endocrine-specific protein 18||612721|REc|||| | ||
2.789|3|29|10|2q35|RPL37A|P|Ribosomal protein L37A||613314|REc|||| | ||
2.790|8|27|08|2q35|RQCD1, RCD1, CNOT9|P|Required for cell differentiation 1, S. pombe, homolog of||612054|REc|||| | ||
2.791|12|21|09|2q35|NRAMP1, NRAMP, SLC11A1|C|Solute carrier family 11 (proton-coupled divalent metal ion|transporter), member 1|600266|REn, REc, Psh, H, Fd|within 220 kb of VIL1||{Mycobacterium tuberculosis, susceptibility to infection by}, 607948|(3); {Buruli ulcer, susceptibility to}, 610446 (3) | |1(Nramp)|
2.792|3|25|03|2q35|STK36, FU, KIAA1278|C|Serine/threonine protein kinase 36||607652|R, REn|||| | ||
2.793|8|19|13|2q35|TMBIM1, RECS1|P|Transmembrane BAX inhibitor motif-containing protein 1||610364|REc, R|||| | ||
2.794|7|19|12|2q35|TUBA4A, TUBA1|P|Tubulin, alpha-4A||191110|REc|||| | |1(Tuba4a)|
2.795|5|5|00|2q35|WNT6|P|Wingless-type MMTV integration site family, member 6||604663|A|||| | |1(Wnt6)|
2.796|7|22|11|2q35|WNT10A, SSPS, STHAG4, OODD|C|Wingless-type MMTV integration site family, member 10A||606268|REc, Fd|||Odontoonychodermal dysplasia, 257980 (3); Schopf-Schulz-Passarge|syndrome, 224750 (3); Tooth agenesis, selective, 4, 150400 (3) | ||
2.797|6|6|94|2q35|XRCC5|C|X-ray repair, complementing defective, repair in Chinese hamster|cells-5|194364|REa, R, A|included in YAC contig spanning 2q33-q34||| | |1(Xrcc5)|
2.798|9|29|10|2q35|ZFAND2B, AIRAPL|P|Zinc finger AN1 domain-containing protein 2B||613474|REc|||| | ||
2.799|1|22|08|2q35|ACCN4, ASIC4, BNAC4|C|Cation channel, amiloride-sensitive, neuronal, 4||606715|R, REc|||| | ||
2.800|5|22|03|2q36.1|KCNE4, MIRP3|P|Potassium channel, voltage-gated, ISK-related subfamily, member 4||607775|REc|||| | ||
2.801|1|11|05|2q35-q36|PSHK2|P|Pseudohyperkalemia, familial, 2, due to red cell leak||609153|Fd|max lod at D2S1338||Pseudohyperkalemia, familial, 2, due to red cell leak (2)| | ||
2.802|2|3|99|2q36.1|SCG2, CHGC|P|Secretogranin II (chromogranin C)||118930|A|||| | |1(Scg2)|
2.803|6|4|90|2q35|TNP1|P|Transition protein-1||190231|REa, A|||| | |1(Tp1)|
2.804|2|18|08|2q35|TNS1, TNS|P|Tensin 1||600076|REa, H|||| | |1(Tns)|
2.805|2|10|04|2q35|VIL1|C|Villin-1||193040|A|||Cholestasis, progressive canalicular (1)| | |1(Vil)|
2.806|6|4|97|2q35|PTPRN, IA2|P|Protein tyrosine phosphatase, receptor type N (islet cell antigen 2)||601773|A, R|||| | |1(Ptprn)|
2.807|3|5|95|2q37.3|GPC1|P|Glypican 1||600395|A|||| | ||
2.808|9|12|13|2q35|ABCB6, MTABC3, MCOPCB7, LAN, DUH3|P|ATP-binding cassette, subfamily B, member 6||605452|A|||Microphthalmia, isolated, with coloboma 7, 614497 (3); [Blood|group, Langereis system], 111600 (3); Dyschromatosis universalis hereditaria 3, 615402 (3)| ||
2.809|4|20|04|2q36|ACRPV|P|Acropectorovertebral dysplasia (F syndrome)||102510|Fd|||Acropectorovertebral dysplasia (2)| | ||
2.810|12|23|05|2q36.1|FARSLB, FRSB|P|Phenylalanine-tRNA synthetase-like, beta subunit||609690|REc|||| | ||
2.811|8|27|09|2q35|FEV|P|Fifth Ewing sarcoma variant||607150|REa, REc|fused with EWS in tumors||| | ||
2.812|4|23|98|2q36.3|HRB, RIP, RAB|P|HIV-1 Rev binding protein||600862|A|||| | ||
2.813|5|23|11|2q36|IGAN2|P|IgA nephropathy, susceptibility to, 2||613944|Fd|between D2S1323 adn D2S362||{IgA nephropathy, susceptibility to, 2} (2)| | ||
2.814|1|11|07|2q36.3|IRS1|P|Insulin receptor substrate-1||147545|REa, A|||{Diabetes mellitus, noninsulin-dependent}, 125853 (3); {Coronary|artery disease, susceptibility to} (3) | |1(Irs1)|
2.815|9|9|13|2q36.1|MRPL44, COXPD16|P|Mitochondrial ribosomal protein L44||611849|R, REc|Mutation identified in 1 family||?Combined oxidative phosphorylation deficiency 16, 615395 (3)| | ||
2.816|10|9|94|2q35|SLC2C, AE3|C|Anion exchanger 3, neuronal||106195|A, Psh, Fd|||| | |1(Ae3)|
2.817|12|18|07|2q36.3|SPHKAP, SKIP, KIAA1678|P|SPHK1 interactor, AKAP domain containing||611646|R, REc|||| | ||
2.818|9|12|02|2q35|STK11IP, KIAA1898, LIP1|P|Serine/threonine kinase 11 interacting protein||607172|R|||| | ||
2.819|11|22|99|2q37.3|AGXT, SPAT|C|Alanine-glyoxylate aminotransferase, liver-specific peroxisomal||604285|A, REa|||Hyperoxaluria, primary, type 1, 259900 (3)| | ||
2.820|5|4|12|2q36.3|COL4A3|C|Collagen IV, alpha-3 polypeptide (Goodpasture antigen)||120070|REa, A, RE|noncollagenous domain = Goodpasture antigen||Alport syndrome, autosomal recessive, 203780 (3); Hematuria,|benign familial, 141200 (3); Alport syndrome, autosomal dominant, 104200 (3) | ||
2.821|5|8|97|2q36.3|COL4A4|C|Collagen IV, alpha-4 polypeptide||120131|REa, A|head-to-head with COL4A4 in same YAC||Alport syndrome, autosomal recessive, 203780 (3); Hematuria,|familial benign (3) | ||
2.822|2|8|13|2q37.1|ECEL1, XCE, DA5D|P|Endothelin-converting enzyme-like 1||605896|A|||Arthrogryposis, distal, type 5D, 615065 (3)| | ||
2.823|2|18|98|2q37.2|GBX2|P|Gastrulation brain homeo box-2||601135|Psh, A|||| | |1(Gbx2)|
2.824|5|12|89|2q24.2|GCG|C|Glucagon||138030|REa, A|||[?Hyperproglucagonemia] (1)| | |2(Gcg)|
2.825|8|15|97|2q37.1|INPP5D, SHIP|P|Inositol polyphosphate-5-phosphatase, 145kD||601582|A|||| | |1(Inpp5d)|
2.826|10|15|98|2q37.1|PDE6D|C|Phosphodiesterase 6D, cGMP-specific, rod, delta||602676|A, R|||| | |1(Pde6d)|
2.827|8|27|09|2q37.1|PTMA, TMSA|P|Prothymosin, alpha (gene sequence 28)||188390|REa, REc|||| | ||
2.828|2|14|01|2q37.3|RAMP1|C|Receptor activity-modifying protein 1||605153|R|||| | |1(Ramp1)|
2.829|4|14|10|2q35|CHPF, CSS2|C|Chondroitin polymerizing factor||610405|REc|||| | ||
2.830|8|3|12|2q36.1|MOGAT1, MGAT1, DGAT2L1|P|Monoacylglycerol O-acyltransferase 1||610268|REc, R|||| | ||
2.831|2|23|12|2q36.1|PAX3, WS1, HUP2, CDHS, WS3|C|Paired box homeotic gene-3||606597|Ch, Fd, H, A, Psh|||Waardenburg syndrome, type 1, 193500 (3); Waardenburg syndrome, type|3, 148820 (3); Craniofacial-deafness-hand syndrome, 122880 (3); Rhabdomyosarcoma 2, alveolar, 268220 (3)| |1(Sp)|Farrer (1992); Tassbehji (1992)
2.832|7|16|09|2q36.1|SGPP2, SPP2|P|Sphingosine-1-phosphate phosphatase 2||612827|REc|||| | ||
2.833|2|21|10|2q36.1-q36.3|SPDA3|P|Spondyloarthropathy, susceptibility to, 3||613238|Fd|max lod at D2S2228||{Spondyloarthropathy, susceptibility to, 3} (2)| | ||
2.834|12|10|10|2q36.2|RJBS|P|Rajab syndrome||613658|Fd|between D2S351 and D2S2390||Rajab syndrome (2)| | ||
2.835|10|13|09|2q36.2|DOCK10, KIAA0694, ZIZ3|P|Dedicator of cytokinesis 10||611518|R, REc|||| | ||
2.836|2|27|12|2q36.2|CUL3, PHA2E|P|Cullin 3||603136|R, REc|||Pseudohypoaldosteronism, type IIE, 614496 (3)| | ||
2.837|8|27|12|2q36.3|MFF, C2orf33|P|Mitochondrial fission factor||614785|REc|||| | ||
2.838|12|10|13|2q36.3|NYPA2, KIAA1486|P|Neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 2||615478|REc, R|||| | ||
2.839|8|17|09|2q36.3|PID1, NYGGF4|P|Phosphotyrosine interaction domain-containing 1||612930|REc|||| | ||
2.840|2|13|12|2q36.3|SLC19A3, THMD2, BBGD|C|Solute carrier family 19 (folate transporter), member 3||606152|A, H, Fd|||Thiamine metabolism dysfunction syndrome 2 (biotin- or|thiamine-responsive encephalopathy type 2), 607483 (3) | |1(Slc19a3)|
2.841|10|15|13|2q36.3|TM4SF20, SLI5|P|Transmembrane 4 L6 family, member 20||615404|REc|||{Specific language impairment 5}, 615432 (3)| | ||
2.842|8|27|09|2q36.3|TRIP12|P|Thyroid hormone receptor interactor 12||604506|REa, REc|||| | ||
2.843|3|14|96|2q37.1|HTR2B|P|5-hydroxytryptamine (serotonin) receptor-2B||601122|A|||| | ||
2.844|4|12|92|2q37.1|ALPP|C|Alkaline phosphatase, placental (Regan isozyme)||171800|REb, REa, A, RE|||| | |4(Akp2)|
2.845|4|12|92|2q37.1|ALPPL2|P|Alkaline phosphatase, placental-like 2||171810|REa, A|||| | ||
2.846|9|22|08|2q37.3|ASB1|P|Ankyrin repeat-containing SOCS box protein 1||605758|R, REc|||| | |1(Asb1)|
2.847|2|20|03|2q37.3|COL6A3|C|Collagen VI, alpha-3 polypeptide||120250|REa, A|close to CRBP1||Bethlem myopathy, 158810 (3); Ullrich congenital muscular dystrophy,|254090 (3) | |1(Col6a3)|
2.848|2|20|07|2q37.3|CXCR7, CMKOR1, GPR159, RDC1|P|Chemokine, CXC motif, receptor 7||610376|A|||| | ||
2.849|4|29|03|2q36.3|DNER|P|Delta-and notch-like egf-related receptor||607299|REc|||| | ||
2.850|3|9|00|2q37.1|GPR55|P|G protein-coupled receptor 55||604107|A|||| | ||
2.851|12|29|99|2q37.3|HDLBP, VGL|P|High-density lipoprotein-binding protein||142695|REa, A|||| | ||
2.852|3|28|12|2q37|IBGC2|P|Basal ganglia calcification, idiopathic, 2||606656|Fd|||Basal ganglia calcification, idiopathic, 2 (2)| | ||
2.853|9|1|05|2q37.1|ITM2C, BRI3|P|Integral membrane protein 2C||609554|REc|||| | ||
2.854|8|25|11|2q37.1|KCNJ13, SVD, LCA16|C|Potassium inwardly-rectifying channel, subfamily J, member 13||603208|R, Fd|||Snowflake vitreoretinal degeneration, 193230 (3); Leber congenital|amaurosis 16, 614186 (3) | ||
2.855|10|3|11|2q37.3|KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9|P|Kinesin family member 1A||601255|Psh, A|incorrectly assigned to chr.9||Spastic paraplegia 30, autosomal recessive, 610357 (3); Neuropathy,|hereditary sensory, type IIC, 614213 (3); Mental retardation, autosomal dominant 9, 614255 (3)| ||
2.856|5|31|05|2q37.3|MLPH|P|Melanophilin||606526|R, H|||Griscelli syndrome, type 3, 609227 (3)| | |1(Mlph)|
2.857|1|8|01|2q37.1|NEU2, SIAL2|P|Neuraminidase 2||605528|A, R|||| | ||
2.858|7|17|01|2q37.1|NGEF|P|Neuronal guanine nucleotide exchange factor||605991|REc, A|||| | |1(Ngef)|
2.859|10|1|07|2q37.3|SEPT2, NEDD5, DIFF6|P|Septin 2||601506|A|||| | ||
2.860|3|26|02|2q37.1|TRPM8, TRPP8|P|Transient receptor potential cation channel, subfamily M, member 8||606678|REc|||| | ||
2.861|6|7|10|2q37.1|UGT1A1, UGT1, GNT1, BILIQTL1|C|UDP glycosyltransferase 1 family, polypeptide A1||191740|REa|||Crigler-Najjar syndrome, type I, 218800 (3); [Gilbert syndrome],|143500 (3); Crigler-Najjar syndrome, type II, 606785 (3); Hyperbilirubinemia, familial transcient neonatal, 237900 (3); [Bilirubin, serum|level of, QTL1], 601816 (3) |1(Ugt1)|Bosma (1992); Ritter (1992)
2.862|11|1|01|2q37.1|UGT1A3, UGT1C|P|UDP-glycosyltransferase 1 family, polypeptide A3||606428|REa, REn|||| | ||
2.863|11|1|01|2q37.1|UGT1A4, UGT1D|P|UDP-glycosyltransferase 1 family, polypeptide A4||606429|REa, REn|||| | ||
2.864|11|1|01|2q37.1|UGT1A5|P|UDP-glycosyltransferase 1 family, polypeptide A5||606430|REa, REn|||| | ||
2.865|11|1|01|2q37.1|UGT1A8|P|UDP-glycosyltransferase 1 family, polypeptide A8||606433|REa, REn|||| | ||
2.866|11|1|01|2q37.1|UGT1A6|P|UDP-glycosyltransferase 1 family, polypeptide A6||606431|REa, REn|||| | ||
2.867|11|1|01|2q37.1|UGT1A7|P|UDP-glycosyltransferase 1 family, polypeptide A7||606432|REa, REn|||| | ||
2.868|11|1|01|2q37.1|UGT1A9|P|UDP-glycosyltransferase 1 family, polypeptide A9||606434|REa, REn|||| | ||
2.869|11|1|01|2q37.1|UGT1A10|P|UDP-glycosyltransferase 1 family, polypeptide A10||606435|REa, REn|||| | ||
2.870|6|10|98|2q37.1|SPP2|P|Secreted phosphoprotein-2, 24kD||602637|R, A|||| | ||
2.871|6|22|01|2q37.1|ALPI|C|Alkaline phosphatase, intestinal||171740|A, REa, RE, REc|close to ALPP; proximal to PAX3||| | |1(Akp3)|
2.872|7|20|12|2q37.1|ARL4C, ARL7|P|ADP-ribosylation factor-like 4C||604787|REc|||| | ||
2.873|5|19|09|2q37.1|ATG16L1, APG16L, IBD10|C|Autophagy 16-like 1||610767|REc|||{Inflammatory bowel disease 10}, 611081 (3)| | ||
2.874|7|22|13|2q37.1|B3GNT7|P|Beta-1,3-N-acetylglucosaminyltransferase 7||615313|REc|||| | ||
2.875|8|1|08|2q37.1|CAB39|P|Calcium-binding protein 39||612174|R, REc|||| | ||
2.876|1|9|07|2q37.1|DGKD|P|Diacylglycerol kinase, delta, 130kD||601826|REc|||| | ||
2.877|2|18|08|2q37.1|EFHD1|P|EF-hand domain family, member D1||611617|REc|||| | ||
2.878|2|21|06|2q37.1|EIF4E2, EIF4EL3, 4EHP|C|Eukaryotic translation initiation factor 4E family, member 2||605895|R, REc|||| | ||
2.879|9|9|08|2q36.3|FBXO36, FBX36|P|F-box only protein 36||609105|REc|||| | |1(Fbxo36)|
2.880|10|3|08|2q37.1|GIGYF2, KIAA0642, PARK11|C|GRB10-interacting GYF protein 2||612003|R, REc, Fd|||Parkinson disease 11, 607688 (3)| | |1(Gigyf2)|
2.881|3|23|09|2q37.1|HJURP|P|Holliday junction recognition protein||612667|REc|||| | ||
2.882|3|23|06|2q37.1|MYP12|P|Myopia 12||609995|Fd|max lod at D2S2344||Myopia 12 (2)| | ||
2.883|5|19|06|2q37.1|NMUR1, GPR66, FM3|P|Neuromedin U receptor 1||604153|REc|||| | ||
2.884|4|15|11|2q37.1|PRSS56, MCOP6|P|Protease, serine, 56||613858|REc, Fd|||Microphthalmia, isolated 6, 613517 (3)| | ||
2.885|7|7|05|2q37.1|SP100|P|Nuclear antigen SP100||604585|R, REc|||| | ||
2.886|10|11|06|2q37.1|SP110, IFI41, IFI75, VODI|C|SP110 nuclear body protein (interferon-induced protein 41, 30kD;|interferon-induced protein 75, 52kD)|604457|R, Fd|||Hepatic venoocclusive disease with immunodeficiency, 235550 (3);|{Mycobacterium tuberculosis, susceptibility to}, 607948 (3) | ||
2.887|4|23|09|2q37.1|SAG, RP47|C|S-antigen; retina and pineal gland (arrestin)||181031|REa, A, Fd|||Oguchi disease-1, 258100 (3); Retinitis pigmentosa 47, 613758 (3)| | |1(Sag)|
2.888|9|7|10|2q37.1|STQTL21|P|Stature quantitative trait locus 21||613440|Fd|associated with rs6717918||{Stature QTL 21} (2)| | ||
2.889|9|10|09|2q37.1|TIGD1|P|TIGGER transposable element-derived gene 1||612972|REc|||| | ||
2.890|5|24|13|2q37.1|USP40|P|Ubiquitin-specific protease 40||610570|REc, R|||| | ||
2.891|2|5|01|2q37.2|SH3BP4, BOG25|P|SH3 domain-binding protein 4||605611|A|||| | ||
2.892|7|20|01|2q37.1-q37.3|HPE6|P|Holoprosencephaly 6||605934|Ch|||Holoprosencephaly-6 (2)| | ||
2.893|3|16|12|2q37.1|DIS3L2, PRLMNS|P|Dis3 mitotic control, S. cerevisiae, homolog-like 2||614184|REc|||Perlman syndrome, 267000 (3)| | ||
2.894|1|25|11|2q37.3|HDAC4, HDACA, BDMR, AHO3|P|Histone deacetylase 4||605314|A, Ch|||Brachydactyly-mental retardation syndrome, 600430 (3)| | ||
2.895|4|17|09|2q37.3|CAPN10, NIDDM1|C|Calpain-10||605286|A, REc|||{Diabetes mellitus, noninsulin-dependent 1}, 601283 (3)| | ||
2.896|10|23|08|2q37.3|D2HGDH, D2HGD|P|D-2-hydroxyglutarate dehydrogenase||609186|REc|||D-2-hydroxyglutaric aciduria, 600721 (3)| | ||
2.897|5|25|13|2q37.3|DTYMK, TYMK, CDC8|P|Deoxythymidylate kinase||188345|REc|||| | ||
2.898|3|14|13|2q37.3|FAM132B, CTRP15|P|Family with sequence similarity 132, member B||615099|REc|||| | |1(Fam132b)|
2.899|2|7|07|2q37.3|GAL3ST2, GP3ST|P|Galactose-3-O-sulfotransferase 2||608237|REc|||| | ||
2.900|6|19|98|2q37.3|GPR35|P|G protein-coupled receptor-35||602646|A|||| | ||
2.901|8|31|06|2q37.3|HES6|P|Hairy/enhancer of split, Drosophils, homolog of, 6||610331|R, REc|||| | ||
2.902|3|15|04|2q37.3|ING5|P|Inhibitor of growth-5||608525|R, REc|||| | ||
2.903|7|1|11|2q37.3|LRRFIP1, GCF2, TRIP, FLAP1|P|Leucine-rich repeat in FLII-interacting protein 1||603256|REc|||| | ||
2.904|5|6|13|2q37.3|MIR149|P|Micro RNA 149||615209|REc|||| | ||
2.905|9|9|13|2q37.3|MTERFD2, MTERF4|P|MTERF domain-containing protein 2||615393|REc|||| | ||
2.906|9|8|11|2q37.3|NDUFA10|P|NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 10||603835|REa, REc|previous assignment to chr. 12||Leigh syndrome, 256000 (3)| | ||
2.907|5|25|13|2q37.3|NEU4|P|Neuraminidase 4||608527|REc|||| | |1(Neu4)|
2.908|6|12|03|2q37.3|OTOSP|P|Otospiralin||607877|A, R|||| | ||
2.909|3|3|03|2q37.3|PASK, KIAA0135|P|Pas domain-containing serine-threonine kinase||607505|REc|||| | ||
2.910|1|6|11|2q37.3|PDCD1, SLEB2|C|Programmed cell death 1||600244|A, Fd|||{Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3);|{Multiple sclerosis, disease progression, modifier of}, 126200 (3) | ||
2.911|5|13|13|2q37.3|PER2, FASPS1, KIAA0347|P|Period, Drosophila, homolog of, 2||603426|Fd, A, REc|||Advanced sleep phase syndrome, familial, 1, 604348 (3)| | ||
2.912|8|20|98|2q37.3|PPP1R7, SDS22|P|Protein phosphatase 1, regulatory subunit 7||602877|REa, REc|||| | ||
2.913|10|28|09|2q37.3|RAB17|P|Ras-associated protein||602206|REc|||| | ||
2.914|9|28|00|2q37.3|RNPEPL1|P|Arginyl aminopeptidase-like 1 (aminopeptidase B-like)||605287|REn|||| | ||
2.915|8|21|07|2q37.3|SCLY, SCL|P|Selenocysteine lyase||611056|R, REc|||| | ||
2.916|1|20|09|2q37.3|THAP4|P|THAP domain-containing protein 4||612533|REc|||| | ||
2.917|1|2|08|2q37.3|TMEM16G, PCANAP5, IPCA5, DTMPP, NGEP|P|Transmembrane protein 16G||605096|REc|||| | ||
2.918|7|22|11|2q37.3|TRAF3IP1, MIPT3|P|TRAF3-interacting protein 1||607380|REc|||| | ||
2.919|1|15|13|2q37.3|TWIST2, DERMO1, SETLSS, FFDD3|P|Twist, Drosophila, homolog of, 2 (dermis-expressed protein 1, mouse,|homolog of)|607556|REc|||Focal facial dermal dysplasia 3, Setleis type, 227260 (3)| | ||
2.920|4|6|00|Chr.2|TSE2|P|Transsuppressor of expression 2||601136|M|||| | ||
3.1|3|10|11|3pter-p25|DEL3pterp25, C3DELpterp25|P|3p- syndrome (chromosome 3pter-p25 deletion syndrome)||613792|Ch|contiguous gene deletion syndrome||3p- syndrome (4)| | ||
3.2|12|22|89|3p22.1|CCK|C|Cholecystokinin||118440|REb, REa|||| | |9(Cck)|
3.3|3|10|11|3p22.2|CX3CR1, GPR13, V28|P|Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13)||601470|REa|||{Rapid progression to AIDS from HIV1 infection}, 609423 (3);|{Coronary artery disease, resistance to}, 607339 (3); {Macular degeneration, age-related, 12}, 613784 (3)| ||
3.4|2|15|96|3p21.31|SEP|P|SEP transmembrane protein||601053|REa|||| | ||
3.5|3|17|05|3p26.2|CRBN, MRT2|C|Cereblon||609262|Fd, REc|between D3S3525 and D3S1560||Mental retardation, autosomal recessive 2, 607417 (3)| | ||
3.6|12|17|07|3p26.1|EGO|P|Eosinophil granule ontogeny||611662|REc|||| | ||
3.7|1|8|01|3p25.3|OGG1|C|8-hydroxyguanine DNA glycosylase||601982|A|||Renal cell carcinoma, clear cell, somatic, 144700 (3)| | |6(Ogg1)|
3.8|3|5|95|3p25.3|OXTR|C|Oxytocin receptor||167055|A, Psh|3p25 by others; within 7-10kb of CAV3||| | ||
3.9|2|28|03|3p26.3|CHL1, CALL, L1CAM2|C|CHL1, mouse, homolog of (L1 cell adhesion molecule 2)||607416|A, D|||| | |6(Chl1)|
3.10|4|3|03|3p26.1|EDEM, KIAA0212|P|ER degradation-enhancing alpha-mannosidase-like protein||607673|R|||| | ||
3.11|4|19|12|3p26.1|GRM7, MGLUR7|P|Glutamate receptor, metabotropic, 7||604101|R, REc|||| | ||
3.12|2|7|13|3p26.1|ITPR1, SCA15, SCA16, SCA29|C|Inositol 1,4,5-triphosphate receptor, type 1||147265|REa, A, Fd, REc|||Spinocerebellar ataxia 15, 606658 (3); Spinocerebellar ataxia 29,|congenital nonprogressive, 117360 (3) | |6(Itpr1)|
3.13|8|24|09|3p26.1-p25.1|ARHI2|P|Age-related hearing impairment 2||612976|Fd|associated with rs11928865, rs779701, and rs779706||{Age-related hearing impairment 2} (2)| | ||
3.14|9|30|10|3p26.1|BHLHE40, HLHB2, STRA13, DEC1|P|Basic helix-loop-helix family, member E40||604256|A|||| | ||
3.15|5|30|00|3p12.3|CNTN3, PANG|P|Contactin 3 (plasmocytoma-associated neuronal glycoprotein)||601325|REa, H|||| | |6(Pang)|
3.16|5|1|08|3p26|HPC5|P|Prostate cancer, hereditary, 5||609299|Fd|between D3S1270 and D3S4559||{Prostate cancer, hereditary, 5}, 176807 (2)| | ||
3.17|3|8|04|3p26|IBD9|P|Inflammatory bowel disease 9||608448|Fd|||{Inflammatory bowel disease 9} (2)| | ||
3.18|3|20|06|3p26.1|SETMAR, METNASE|P|SET and Mariner transposase domains-containing protein||609834|REc|||| | ||
3.19|5|23|06|3p26|STQTL5|P|Stature quantitative trait locus 5||608982|Fd|max lod between D3S1297 and D3S1304||{Stature QTL 5} (2)| | ||
3.20|10|29|03|3p26.1|SUMF1, FGE|P|Sulfatase-modifying factor-1||607939|REc, H|||Multiple sulfatase deficiency, 272200 (3)| | |6(Sumf1)|
3.21|5|25|05|3p25.3|ATP2B2, PMCA2|C|ATPase, Ca++ transporting, plasma membrane, 2||108733|REa|||{Deafness, autosomal recessive 12, modifier of}, 601386 (3)| | ||
3.22|12|12|00|3p25.3|BRPF1, BR140|P|Bromodomain- and PHD finger-containing protein 1, 140kD||602410|A|||| | ||
3.23|6|9|08|3p26.3-p26.2|CNTN4|C|Contactin 4||607280|REc, Fd|||| | ||
3.24|10|17|02|3p26.3|CNTN6, NB3|P|Contactin 6||607220|A|||| | ||
3.25|2|20|03|3p25.3|GHRL|P|Ghrelin||605353|REc|||{Obesity, susceptibility to}, 601665 (3)| | ||
3.26|11|5|02|3p25.3|VHL|C|VHL gene||608537|Fd, D, RE|||von Hippel-Lindau syndrome, 193300 (3); Renal cell carcinoma,|somatic, 144700 (3); Pheochromocytoma, 171300 (3); Hemangioblastoma, cerebellar, somatic (3); Erythrocytosis, familial, 2, 263400 (3)| ||
3.27|9|12|08|3p26-p24.2|MYMY1, MYMY|P|Moyamoya disease||252350|Fd|max lod at D3S3050||Moyamoya disease (2)| | ||
3.28|6|7|94|3p26.2|IL5RA|C|Interleukin-5 receptor, alpha||147851|REa, A|||| | |6(Il5r)|
3.29|5|11|00|3p26.1|LMCD1|P|LIM and cysteine-rich domains 1||604859|R|||| | |6(Lmcd1)|
3.30|5|9|12|3p25.3|ATG7, APG7L, GSA7|P|Autophagy 7, S. cerevisiae, homolog of||608760|REc, R|||| | ||
3.31|8|28|09|3p25.3|CAMK1, CAMKI|P|Calcium/calmodulin-dependent protein kinase I||604998|REa, REc|||| | ||
3.32|4|24|03|3p25.3|CRELD1, AVSD2|C|Cysteine-rich protein with EGF-like domains 1||607170|R, REc, H|||{Atrioventricular septal defect, susceptibility to, 2}, 606217 (3);|Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3) | |6(Creld1)|
3.33|3|14|01|3p25.3|FANCD2, FANCD, FACD, FAD|P|Fanconi anemia, complementation group D2||613984|M|||Fanconi anemia, complementation group D2, 227646 (3)| | ||
3.34|1|9|13|3p25.3|IL17RE|P|Interleukin 17 receptor E||614995|REc|||| | ||
3.35|4|6|10|3p25.3|IRAK2|P|Interleukin 1 receptor-associated kinase 2||603304|REc|||| | ||
3.36|8|22|07|3p25.3|MTMR14, C3orf29, HJUMPY|P|Myotubularin-related protein 14||611089|REc|||{Centronuclear myopathy, autosomal, modifier of}, 160150 (3)| | ||
3.37|2|2|10|3p25.3|SLC6A11, GAT3, GAT4|P|Solute carrier family 6 (neurotransmitter transporter, GABA), member|11|607952|REc|||| | ||
3.38|4|26|10|3p25.3|TADA3, TADA3L, ADA3|P|Transcriptional adaptor 3||602945|R, REc|||| | ||
3.39|4|19|07|3p25.3|IL17RC, IL17RL|P|Interleukin 17 receptor C||610925|REc|||| | ||
3.40|1|27|04|3p22.1|TRAK1, OIP106, KIAA1042|C|Trafficking protein, kinesin-binding 1||608112|R, REc|||| | |9(hyrt)|
3.41|5|7|03|3p23|OSBPL10, ORP10|C|Oxysterol-binding protein-like protein 10||606738|REc|||| | ||
3.42|8|19|13|3p25.2|IQSEC1, KIAA0763|P|IQ motif- and Sec7 domain-containing protein 1||610166|R, REc|||| | ||
3.43|12|17|12|3p25.2|TAMM41, RAM41, C3orf31|P|Translocator assembly and maintenance, mitochondrial, S. cerevisiae,|homolog of|614948|REc|||| | ||
3.44|4|15|03|3p25.2-p25.1|UVM2|C|Melanoma, uveal, susceptibility to, 2||606661|Ch, D|||{Melanoma, uveal, susceptibility to, 2} (2)| | ||
3.45|11|29|04|3p25.1|BTD|P|Biotinidase||609019|A|||Biotinidase deficiency, 253260 (3)| | ||
3.46|11|2|11|3p25.3|CAV3, LGMD1C, LQT9|C|Caveolin-3||601253|A, REc|within 7-10kb of OXTR||Muscular dystrophy, limb-girdle, type IC, 607801 (3); Rippling|muscle disease, 606072 (3); Creatine phosphokinase, elevated serum, 123320 (3); Myopathy, distal, Tateyama type, 614321 (3); Cardiomyopathy, familial|hypertrophic, 192600 (3); Long QT syndrome-9, 611818 (3) ||
3.47|5|23|13|3p25.3|CIDEC, FSP27, CIDE3, FPLD5|P|Cell death-inducing DFFA-like effector C||612120|REc|1 patient identified with mutation||?Lipodystrophy, familial partial, type 5, 615238 (3)| | ||
3.48|12|11|03|3p25.1|COLQ, EAD|C|Collagenic tail of endplate acetylcholinesterase||603033|A, R|||Endplate acetylcholinesterase deficiency, 603034 (3)| | ||
3.49|5|24|13|3p25.3|LHFPL4|P|LHFP-like protein 4||610240|REc|||| | ||
3.50|2|2|04|3p25.2|MKRN2|P|Makorin 2||608426|REc|||| | |6(Mkrn2)|
3.51|4|24|08|3p25.1|MRPS25|P|Mitochondrial ribosomal protein S25||611987|R, REc|||| | ||
3.52|10|21|99|3p25.1|NR2C2, TR4, TAK1|P|Nuclear receptor subfamily 2, group C, member 2||601426|REa, A|||| | ||
3.53|3|27|09|3p25.2|PPARG, PPARG1, PPARG2, CIMT1, GLM1|C|Peroxisome proliferator activated receptor, gamma||601487|REa, Fd, A|PPARG1, PPARG2 from same gene||Obesity, severe, 601665 (3); [Obesity, resistance to] (3);|Insulin resistance, severe, digenic, 604367 (3); Lipodystrophy, familial partial, type 3, 604367 (3);|Carotid intimal medial thickness 1, 609338 (3); {Diabetes, type 2}, 125853 (3) ||
3.54|11|13|07|3p25.2|RAF1, CRAF, NS5|C|Oncogene RAF1||164760|REa, Fd, A|||Noonan syndrome 5, 611553 (3); LEOPARD syndrome 2, 611554 (3)| | |6(Raf1)|
3.55|10|28|02|3p25.3|SRGAP3, KIAA0411, MEGAP|C|Slit-robo GTPase-activating protein, rho, 3||606525|R, Ch|||| | ||
3.56|8|19|99|3p25|ST11, PETS1|P|Suppression of tumorigenicity 11, pancreas||602011|D|||?Pancreatic endocrine tumors (1)| | ||
3.57|11|2|04|3p25.2|SYN2|C|Synapsin II||600755|REa, H, REn|||{Schizophrenia, susceptibility to}, 181500 (3)| | |6(Syn2)|
3.58|10|3|02|3p25.2|TIMP4|P|Tissue inhibitor of metalloproteinase 4||601915|A|||| | |6(Timp4)|
3.59|3|27|13|3p25.1|TMEM43, ARVD5, ARVC5, EDMD7|C|Transmembrane protein 43||612048|REc, Fd|||Arrhythmogenic right ventricular dysplasia 5, 604400 (3);|Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3) | ||
3.60|7|18|06|3p25.1|WNT7A|C|Wingless-type MMTV integration site family, member 7A||601570|A, Fd|||Ulna and fibula, absence of, with sever limb deficiency, 276820 (3);|Fuhrmann syndrome, 228930 (3) | ||
3.61|2|19|10|3p25.1|XPC, XPCC|C|XPC gene||613208|REa, A, RE|||Xeroderma pigmentosum, group C, 278720 (3)| | |6(Xpc)|
3.62|10|5|11|3p24.3|PLCL2, KIAA1092|C|Phospholipase C-like 2||614276|R, REc|||| | ||
3.63|9|19|00|3p25.3|RAD18|P|Rad18, S. cerevisiae, homolog of||605256|A, R|||| | ||
3.64|5|7|97|3p25.3|SEC13L1, D3S1231E, SEC13R|P|SEC13, S. cerevisiae, like 1||600152|Psh, A|||| | |6(Sec13n)|
3.65|10|9|94|3p25.1|FBLN2|P|Fibulin-2||135821|A|||| | |6(Fbln2)|
3.66|12|4|95|3p25.3|SLC6A1, GABATR|P|Solute carrier family 6 (neurotransmitter transporter, GABA), member 1||137165|A|||| | ||
3.67|5|27|05|3p25-p22|OVCAS1|P|Ovarian cancer, susceptibility to, 1||607893|Fd|between D3S1597 and D3S3611||{Ovarian cancer, susceptibility to} (2)| | ||
3.68|3|5|95|3p25.1|SLC6A6, TAUT|C|Solute carrier family 6 (neurotransmitter transporter, taurine),|member 6|186854|REa, A|||| | |6(Slc6a6)|
3.69|9|10|07|3p25.1|ANKRD28, PITK, KIAA0379|C|Ankyrin repeat domain-containing protein 28||611122|R, REc|||| | ||
3.70|8|21|07|3p25.1|CHDH4, MIA40|P|Coiled-coil-helix-coiled-coil-helix domain-containing protein 4||611077|REc|||| | ||
3.71|12|4|03|3p25.1|EAF1|P|ELL-associated factor 1||608315|R, REc|||| | ||
3.72|8|31|12|3p25.1|FGD5|P|FYVE, RhoGEF, and PH domain-containing protein 5||614788|REc|||| | ||
3.73|4|6|13|3p25.1|GALNT15, GALNACT15|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 15|615131|REc|||| | ||
3.74|8|28|09|3p25.1|NUP210, GP210, KIAA0906|P|Nucleoporin, 210kD||607703|R, REc|||| | ||
3.75|11|19|10|3p25.1|SH3BP5, SAB|P|SH3 domain-binding protein 5||605612|REc, A|previously mapped to 1q431||| | |14(Sh3bp5)|
3.76|7|22|09|3p26.2|TRNT1|P|tRNA nucleotidyltransferase, CCA-adding, 1||612907|REc|pseudogenes on chromosomes 1 and 22||| | ||
3.77|11|21|02|3p25.1|LSM3|P|LSM3 protein||607283|REc|||| | ||
3.78|11|15|08|3p25.2|TSEN2, SEN2, PCH2B|P|tRNA splicing endonuclease 2, S. cerevisiae, homolog of||608753|REc|||Pontocerebellar hypoplasia type 2B, 612389 (3)| | ||
3.79|8|20|10|3p25.1-p23|LGMD1H|P|Muscular dystrophy, limb-girdle, type 1H||613530|Fd|between D3S1263 and D3S1277||Muscular dystrophy, limb-girdle, type 1H (2)| | ||
3.80|8|21|07|3p25.1|DPH3, KTI11, ZCSL2, DELGIP1|P|DPH3, S. cerevisiae, homolog of||608959|R, REc|||| | ||
3.81|12|18|08|3p25.1|DVWA, DIVA, LOC344875|P|Dual intracellular von Willebrand factor domain A-containing protein||612397|REc|||| | ||
3.82|4|15|09|3p24.3|OS6|P|Osteoarthritis susceptibility 6||612401|Fd|associated with rs11718863 and rs7639618||{Osteoarthritis susceptibility 6} (2)| | ||
3.83|11|3|08|3p24.3|SGOL1, SGO, SGO1|P|Shugoshin-like 1||609168|REc|||| | ||
3.84|9|4|08|3p24.2|THRB, ERBA2, THR1, PRTH|C|Thyroid hormone receptor, beta (avian erythroblastic leukemia viral|(v-erb-a) oncogene homolog-2)|190160|REa, A, RE, Fd|||Thyroid hormone resistance, 188570 (3); Thyroid hormone resistance,|autosomal recessive, 274300 (3); Thyroid hormone resistance, selective pituitary, 145650 (3)| ||
3.85|8|3|12|3p24.3-p24.2|UBE2E1, UBCH6|P|Ubiquitin-conjugating enzyme E2E 1||602916|REc|||| | ||
3.86|10|2|12|3p24.2|NR1D2, RVR, BD73|P|Nuclear receptor subfamily 1, group D, member 2||602304|REc|||| | ||
3.87|8|31|06|3p24.2|OXSM, KS|P|3-oxoacyl-ACP synthase, mitochondrial||610324|REc|||| | |14(Oxsm)|
3.88|12|27|13|3p24.2|RPL15, DBA12|P|Ribosomal protein L15||604174|REa, R, REc|mutation identified in 1 family||?Diamond-Blackfan anemia 12, 615550 (3)| | ||
3.89|3|5|98|3p24.3|UBE2E2|P|Ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5)||602163|A|||| | ||
3.90|1|2|08|3p24.2-p23|FEB9|P|Febrile seizures, familial, 9||611634|Fd|between D3S3727 and D3S3567||Febrile seizures, familial, 9 (2)| | ||
3.91|3|1|06|3p24.1|AZI2, AZ2, NAP1, TILP|P|5-azacytidine-induced gene 2, mouse, homolog of||609916|REc|||| | ||
3.92|12|22|00|3p21.31|CELSR3, EGFL1, MEGF2|P|Cadherin EGF LAG seven-pass G-type receptor 3|(epidermal growth factor-like 1)|604264|R|||| | ||
3.93|12|30|98|3p24.3|CAF|P|CREBBP-associated factor||602303|A|||| | |17(Caf)|
3.94|11|28|01|3p25.1|CAPN7, PALBH|P|Calpain 7||606400|R|||| | ||
3.95|10|17|00|3p22.3|CCR4, CKR4, CMKBR4|P|Chemokine (C-C) receptor-4||604836|R, REc|||| | ||
3.96|4|17|13|3p24.1|CMC1, C3orf68|P|Cytochrome C oxidase assembly mitochondrial protein 1, S. cerevisiae,|homolog of|615166|REc|||| | ||
3.97|4|15|03|3p24.3|DAZL, DAZH, SPGYLA|P|Deleted in azoospermia-like||601486|A, R|?founding member of DAZ gene family||{Spermatogenic failure, susceptibility to}  (3)| | ||
3.98|7|25|13|3p24.2|NGLY1, PNG1, CDG1V|P|N-glycanase 1||610661|R, REc|mutation reported in 1 family||?Congenital disorder of glycosylation, type Iv, 615273 (3)| | ||
3.99|11|19|13|3p24.2|RARB, HAP, MCOPS12|C|Retinoic acid receptor, beta polypeptide||180220|REa, A|= HAP = HBV-activated protein||Microphthalmia, syndromic 12, 615524 (3)| | |14(Rarb)|
3.100|1|30|01|3p24.2|TOP2B|P|Topoisomerase (DNA) II, beta, 180kD||126431|REa, Fd|||| | ||
3.101|8|27|01|3p24.1|RBMS3|P|RNA-binding motif protein, single strand-interacting, 3||605786|A|||| | ||
3.102|9|22|03|3p24-p22|HSN1B|P|Hereditary sensory neuropathy, type IB||608088|Fd|max lod at D3S2338||Neuropathy, hereditary sensory, type IB (2)| | ||
3.103|8|18|98|3p24.3|RAB5A, RAB5|P|RAS-associated protein RAB5A||179512|A|||| | ||
3.104|4|23|98|3p22.3-p22.2|STAC|P|SRC homology three (SH3) and cysteine-rich domain||602317|R, H|||| | |9(Stac)|
3.105|3|14|06|3p24-p21|ASPG4|P|Asperger syndrome, susceptibility to, 4||609954|Fd|max lod at D3S2432||{Asperger syndrome susceptibility 4} (2)| | ||
3.106|6|9|98|3p24.3|SATB1|P|Special AT-rich sequence binding protein-1||602075|A|||| | ||
3.107|1|8|14|3p23|STT3B, SIMP|P|STT3B, subunit of the oligosaccharyltransferase complex (catalytic)||608605|REc|||| | ||
3.108|12|23|05|3p22.3|UBP1, LBP1A, LBP1B|P|Upstream binding protein 1||609784|R, REc|||| | ||
3.109|8|4|09|3p22.2|ACAA1|P|Acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A|thiolase)|604054|REa, A|||| | ||
3.110|1|17|08|3p21.31|CDCP1, SIMA135|P|CUB domain-containing protein 1||611735|A|||| | ||
3.111|7|11|93|3p22.1|NKTR|P|Natural tumor-killer recognition sequence||161565|REa|mouse gene close to Cck||| | |9(Nktr)|
3.112|1|11|89|3p23-p21|SCLC1|C|Small-cell cancer of lung||182280|Ch, D|centromeric to ERBA2||Small-cell cancer of lung (2)| | ||
3.113|6|16|99|3p21.31|SMARCC1, BAF155|P|SWI/SNF related, matrix-associated, actin-dependent regulator of|chromatin, subfamily C, member 1|601732|R, Psh|||| | ||
3.114|6|28|02|3p21.31|TDGF1|C|Teratocarcinoma-derived growth factor-1||187395|REa, A|||Forebrain defects (3)| | |9(Tdgf1)|
3.115|8|28|09|3p22.3|CLASP2|P|CLIP-associated protein 2||605853|R, REc|||| | ||
3.116|12|5|11|3p22.3|CMTM6, CKLFSF6|P|CKLF-like marvel transmembrane domain-containing 6||607889|REc|||| | |9(Cklfsf6)|
3.117|12|5|11|3p22.3|CMTM7, CKLFSF7|P|CKLF-like marvel transmembrane domain-containing 7||607890|REc|||| | |9(Cklfsf7)|
3.118|12|5|11|3p22.3|CMTM8, CKLFSF8|P|CKLF-like marvel transmembrane domain-containing 8||607891|REc|||| | |9(Cklfsf8)|
3.119|12|21|09|3p22.2|DCLK3, DCK3, CLR|P|Doublecortin-like kinase 3||613167|REc|||| | |9(Dclk2)|
3.120|8|28|09|3p22.3|FBXL2, FBL2|P|F-box and leucine-rich repeat protein 2||605652|R, REc|||| | ||
3.121|2|11|08|3p22.3|GPD1L, KIAA0089|P|Glycerol-3-phosphate dehydrogenase 1-like||611778|REc, Fd|||Brugada syndrome 2, 611777 (3)| | ||
3.122|9|16|03|3p22.3|PDCD6IP, AIP1, ALIX, KIAA1375|P|Programmed cell death 6-interacting protein||608074|R|||| | ||
3.123|12|23|05|3p22.2|CMYA1, XIN|P|Cardiomyopathy-associated protein 1||609777|R, REc|||| | ||
3.124|9|8|11|3p22.2|LRRFIP2|P|Leucine-rich repeat in FLII-interacting protein 2||614043|REc|||| | ||
3.125|3|23|09|3p22.2|MIR26A, MIRN26A1|P|Micro RNA 26A1||612151|REc|||| | ||
3.126|12|4|13|3p22.2|SCN10A, FEPS2|C|Sodium channel, voltage-gated, type X, alpha subunit||604427|Psh, REc|||Episodic pain syndrome, familial, 2, 615551 (3)| | ||
3.127|12|3|13|3p22.2|SCN11A, HSAN7, FEPS3|C|Sodium channel, voltage-gated, type XI, alpha subunit||604385|R, REc|||Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3);|Episodic pain syndrome, familial, 3, 615552 (3) | |9(Scn11a)|
3.128|8|25|04|3p22.2-p21.32|MHB|P|Myopathy, hyaline body||255160|Fd|between D3S3572 and D3S3624||Myopathy, hyaline body (2)| | ||
3.129|8|25|11|3p22.1|ANO10, TMEM16K, SCAR10|P|Anoctamin 10||613726|REc|||Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)| | ||
3.130|2|14|13|3p22.1|CTNNB1, MRD19|C|Catenin (cadherin-associated protein), beta 1, 88kD||116806|A, REn, Psh, REc|||Mental retardation, autosomal dominant 19, 615075 (3); Colorectal|cancer, somatic, 114500 (3); Pilomatricoma, somatic, 132600 (3); Ovarian cancer, somatic, 167000 (3); Hepatocellular carcinoma, somatic, 114550 (3)| |9(Catnb)|
3.131|9|27|12|3p22.1|GTDC2, C3orf39, AGO61, MDDGA8|P|Glycosyltransferase-like domain-containing protein 2||614828|REc|||Muscular dystrophy-dystroglycanopathy (congenital with brain and|eye anomalies, type A, 8, 614830 (3) | ||
3.132|8|2|13|3p22.1|KLHL40, SYRP, KBTBD5, NEM8|P|Kelch-like 40||615340|REc|||Nemaline myopathy 8, autosomal recessive, 615348 (3)| | ||
3.133|9|19|09|3p22.1|SLC25A38|P|Solute carrier family 25, member 38||610819|REc|||Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive,|205950 (3) | |9(Slc25a38)|
3.134|6|22|12|3p22.1|SNORA62, RNU108, RNE2|P|Small nucleolar RNA, H/ACA box, 62||180646|REc|||| | ||
3.135|8|25|11|3p21.31|NBEAL2, KIAA0540, GPS, BDPLT4|P|Neurobeachin-like 2||614169|REc|||Gray platelet syndrome, 139090 (3)| | ||
3.136|11|28|01|3p22.2|AXUD1|P|Axin1 upregulated||606458|R|||| | ||
3.137|9|9|08|3p22.2|CCR8, CMKBR8, CMKBRL2, CKRL1|P|Chemokine (C-C) receptor 8||601834|Psh|||| | ||
3.138|10|6|11|3p22.3|CRTAP, CASP, OI7|C|Cartilage-associated protein||605497|A|||Osteogenesis imperfecta, type VII, 610682 (3)| | |9(Crtap)|
3.139|10|4|12|3p22|HHV8S|P|Human herpesvirus 8, susceptibility to||614836|Fd|||{Human herpesvirus 8, susceptibility to} (2)| | ||
3.140|3|23|09|3p22.3|MIR128-2, MIR128B, MIRN128-2|P|Micro RNA 128-2||611769|REc|||| | ||
3.141|1|29|01|3p24.1|SLC4A7, NBC2, NBC3|P|Solute carrier family 4, sodium bicarbonate cotransporter, member 7||603353|A|||| | ||
3.142|11|19|11|3p24.1|TGFBR2, HNPCC6, AAT3, MFS2, LDS1B, LDS2B|C|Transforming growth factor, beta receptor II, 70-80kD||190182|A, REa, Fd|||Colorectal cancer, hereditary nonpolyposis, type 6, 614331 (3);|Esophageal cancer, somatic, 133239 (3); Loeys-Dietz syndrome, type 1B, 610168 (3); Loeys-Dietz syndrome, type 2B, 610380 (3)| |9(Tgbfr2)|
3.143|5|9|95|3p22.1|VIPR1|P|Vasoactive intestinal peptide receptor 1||192321|A|incorrectly assigned to 2q37||| | |9(Vipr1)|
3.144|7|8|95|3p21.31|TGM4|P|Transglutaminase-4, prostate||600585|A|||| | ||
3.145|11|13|07|3p22.2|ACVR2B, ACTRIIB, HTX4|C|Activin A receptor, type IIB||602730|REc, A|||Heterotaxy, visceral, 4, autosomal, 613751 (3)| | ||
3.146|2|19|02|3p22.1|CYP8B1, CYP12|P|Cytochrome P450, subfamily VIIIB, polypeptide 1||602172|A, R|||| | |9(Cyp8b1)|
3.147|4|17|00|3p22.2|DLEC1, DLC1|P|Deleted in lung and esophageal cancer 1||604050|REn|||Lung cancer, 211980 (1); Esophageal cancer, 133239 (1)| | ||
3.148|8|9|99|3p22.2|GOLGA4|P|Golgi autoantigen, golgin subfamily a, 4||602509|REc|||| | ||
3.149|2|22|11|3p22.2|EXOG, ENDOGL1, ENGL|P|Endo/exonuclease, ENDOG-like||604051|A|||| | ||
3.150|9|18|12|3p22.2|MYD88, MYD88D|P|Myeloid differentiation primary response gene 88||602170|Psh|||Pyogenic bacterial infections, recurrent, due to MYD88 deficiency,|612260 (3); Macroglobulinemia, Waldenstrom, somatic, 153600 (3) | |9(Myd88)|
3.151|8|9|99|3p22.2|OSR1|P|Oxidative stress-responsive 1||604046|REn|||| | ||
3.152|8|25|11|3p22.2|PLCD1, NDNC3|P|Phospholipase C, delta-1||602142|A|||Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)| | ||
3.153|8|5|97|3p21.31|TNA|C|Tetranectin (plasminogen-binding protein)||187520|Psh, R|||| | ||
3.154|8|9|99|3p22.2|XYLB|P|Xylulokinase, H. influenzae, homolog of||604049|REn|||| | ||
3.155|6|9|10|3p21.31|PTHR1, PTHR, PFE|C|Parathyroid hormone receptor-1||168468|REa, A, Psh|||Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3);|Chondrodysplasia, Blomstrand type, 215045 (3); Eiken syndrome, 600002 (3); Failure of tooth eruption, primary, 125350 (3)| ||
3.156|2|28|03|3p22.1|MOBP|C|Myelin-associated oligodendrocyte basic protein||600948|R, H|||| | |9(Mobp)|
3.157|1|30|01|3p21.31|PFKFB4|P|6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4||605320|A|||| | ||
3.158|6|18|90|3p21.31|ZNF35, HF10|P|Zinc finger protein-35 (HF.10)||194533|REa, A|||| | ||
3.159|1|5|12|3p21.31|C3orf77, TOPAZ1|P|Testis- and ovary-specific PAZ domain protein 1||614412|REc|||| | |9(Topaz1)|
3.160|2|2|11|3p22.3|GLB1, MPS4B|C|Galactosidase, beta-1||611458|S, EM, A|3p14.2-p11 excluded||GM1-gangliosidosis, type I, 230500 (3); GM1-gangliosidosis, type II,|230600 (3); GM1-gangliosidosis, type III, 230650 (3); Mucopolysaccharidosis type IVB (Morquio), 253010 (3)| |9(Bgl)|
3.161|8|28|09|3p22.2|GORASP1, GOLPH5, GRASP65, P65|C|Golgi reassembly stacking protein 1, 65kD||606867|R, A|||| | ||
3.162|5|12|09|3p22.1|LYZL4|P|Lysozyme-like 4||612750|REc|||| | ||
3.163|7|31|08|3p22.2|WDR48, KIAA1449|P|WD repeat-containing protein 48||612167|REc|||| | ||
3.164|2|14|08|3p22.1|MYRIP, SLAC2C|P|Myosin VIIA- and RAB-interacting protein||611790|REc|||| | ||
3.165|6|7|10|3p21.32|MIR138-1, MIRN138-1|P|Micro RNA 138-1||613394|REc|||| | ||
3.166|12|18|08|3p21.31|ALS2CL|P|ALS2 C-termina-like protein||612402|REc|||| | |9(Als2cl)|
3.167|3|9|00|3p21.31|BSN, ZNF231|C|Bassoon, mouse, homolog of||604020|A, R, Psh|||| | ||
3.168|1|9|13|3p21.31|CAMKV, 1G5|P|CAM kinase-like vesicle-associated||614993|REc|||| | |9(Camkv)|
3.169|3|7|13|3p21.31|ELP6, TMEM103, C3orf75|P|Elongator acetyltransferase complex, subunit 6||615020|REc|||| | ||
3.170|6|1|12|3p21.31|EXOSC7, RRP42|P|Exosome component 7||606488|REc|||| | ||
3.171|8|7|13|3p21.31|GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14|P|GDP-mannose pyrophosphorylase B||615320|REc|||Muscular dystrophy-dystroglycanopathy (congenital with brain and eye|anomalies), type A, 14, 615350 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3); Muscular dystrophy-dystroglycanopathy|(congenital with mental retardation), type B, 14, 615351 (3) ||
3.172|8|28|09|3p21.31|IHPK1, IP6K1, KIAA0263|C|Inositol hexaphosphate kinase 1||606991|R, Ch|||| | ||
3.173|12|21|09|3p21.31|KLHDC8B|P|Kelch domain-containing protein 8B||613169|A, REc|||Hodgkin lymphoma, 236000 (3)| | ||
3.174|4|25|08|3p21.31|LTF|C|Lactotransferrin||150210|REa, A|||| | |9(Ltf)|
3.175|3|29|13|3p21.31|MIR191|P|Micro RNA 191||615150|REc|||| | ||
3.176|8|24|09|3p21.31|NDUFAF3|P|NADH dehydrogenase 1 alpha subcomplex, assembly factor 3||612911|REc|||Mitochondrial complex I deficiency, 252010 (3)| | ||
3.177|4|25|12|3p21.31|P4HTM, PH4|P|Prolyl 4-hydroxylase, transmembrane||614584|REc|||| | ||
3.178|2|24|12|3p21.31|RNF123, KPC1|P|Ring finger protein 123||614472|REc|||| | ||
3.179|10|30|06|3p21.31|SCAP|P|SREBP cleavage-activating protein||601510|R, REc|||| | ||
3.180|1|19|11|3p21.31|SLC25A20, CACT, CAC|P|Solute carrier family 25 (carnitine/acylcarnitine translocase), member|20 (carnitine-acylcarnitine translocase)|613698|A|pseudogene on 6p12||Carnitine-acylcarnitine translocase deficiency, 212138 (3)| | ||
3.181|2|23|08|3p21.31|TRAIP, TRIP, RNF206|C|TRAF-interacting protein||605958|R, REc|||| | ||
3.182|6|16|99|3p21.31|USP4, UNP|C|Ubiquitin-specific protease-4||603486|A, H, REc|||| | |9(Unp)|
3.183|2|24|12|3p21.31|USP19, KIAA0891|P|Ubiquitin-specific protease 19||614471|REc|||| | ||
3.184|2|1|11|3p21.31|WDR6|P|WD repeat-containing protein 6||606031|REc|previously assigned to 15q21 by FISH||| | ||
3.185|1|5|06|3p21.31|ZD1|P|Zygodactyly 1||609815|Fd|max lod at D3S2409||Zygodactyly 1 (2)| | ||
3.186|11|19|11|3p21.1|BAP1, TPDS|C|BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)||603089|A, R|||Tumor predisposition syndrome, 614327 (3)| | ||
3.187|7|2|02|3p21.31|CACNA2D2, KIAA0558|C|Calcium channel, voltage-dependent, alpha-2/delta subunit 2||607082|R, REc|||| | ||
3.188|3|2|98|3p21.31|CAMP, FALL39|P|Cathelicidin antimicrobial peptide||600474|A|||| | ||
3.189|12|19|11|3p21.2|CISH, BACTS2|P|Cytokine inducible SH2-containing protein||602441|Ch|||{Tuberculosis, susceptibility to}, 607948 (3); {Malaria,|susceptibility to}, 611162 (3); {Bacteremia, susceptibility to}, 614383 (3) | |9(Cish)|
3.190|9|9|08|3p21.31|CCR3, CKR3, CMKBR3|P|Chemokine (C-C) receptor 3||601268|R, REc|||| | ||
3.191|9|9|08|3p21.31|CCR9|P|Chemokine, CC motif, receptor 9||604738|R, A|||| | ||
3.192|8|28|98|3p22.1|CCBP2, CMKBR9, D6, CCR9, CCR10|P|Chemokine binding protein 2 (chemokine, C-C, receptor 9)||602648|R|||| | ||
3.193|7|10|08|3p21.31|COL7A1|C|Collagen VII, alpha-1 polypeptide||120120|REa, A|||Epidermolysis bullosa dystrophica, AD, 131750 (3); Epidermolysis|bullosa dystrophica, AR, 226600 (3); Epidermolysis bullosa, pretibial, 131850 (3); EBD, Bart type, 132000 (3); EBD, localisata variant (3); Transient bullous|of the newborn, 131705 (3); Epidermolysis bullosa pruriginosa, 604129 (3); Toenail dystrophy, isolated, 607523 (3); EBD inversa, 226600 (3)||Al-Imara (1992); Hovnanian (1992)
3.194|4|26|08|3p21.31|CYB561D2, 101F6|P|Cytochrome b-561 domain containing 2||607068|REc|||| | ||
3.195|12|7|98|3p21.1|DNAH1, HL11, DNAHC1, HDHC7|P|Dynein, axonemal, heavy chain-1||603332|Psh, A|||| | |14(Dnah1)|
3.196|9|28|00|3p22.1|ENTPD3, CD39L3|P|Ectonucleoside triphosphate diphosphohydrolase 3||603161|R, Psh|||| | ||
3.197|8|6|13|3p21.31|FYCO1, CATC2, CTRCT18|P|FYVE and coiled-coil domain containing 1||607182|REc, Fd|||Cataract 18, autosomal recessive, 610019 (3)| | ||
3.198|6|27|02|3p21.31|FUS2|P|FUS2 gene||607073|REc|||| | ||
3.199|8|25|11|3p21.31|GPX1, GPXD|C|Glutathione peroxidase-1||138320|S, REa, Psh, A|?pseudogene on 3p11-p12||Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)| | ||
3.200|6|16|99|3p21.31|HYAL2, LUCA2|P|Hyaluronoglucosaminidase 2||603551|REc, H|||| | |9(Hyal2)|
3.201|8|31|99|3p21.31|HYAL3, LUCA3|P|Hyaluronoglucosaminidase 3||604038|REn|||| | ||
3.202|9|9|08|3p21.3|IBD12|P|Inflammatory bowel disease 12||612241|Fd|||{Inflammatory bowel disease 12} (2)| | ||
3.203|9|28|98|3p21.31|IFRD2|P|Interferon-related developmental regulator-2||602725|REc|||| | ||
3.204|3|9|00|3p22.2|ITGA9|P|Integrin, alpha-9||603963|REn|||| | ||
3.205|4|8|98|3p22.1|LAMR1, LAMBR|P|Laminin receptor-1, 67kD||150370|A|||?Arrhythmogenic right ventricular dysplasia 5, 604400 (1)| | |9(Lamr1)|
3.206|7|12|13|3p21.31|LARS2, PRLTS4|P|Leucyl-tRNA synthetase, mitochondrial||604544|REc|||Perrault syndrome 4, 615300 (3)| | ||
3.207|2|22|00|3p21.31|LIMD1|P|LIM domain-containing protein 1||604543|REc|||| | |9(Limd1)|
3.208|9|11|02|3p21.31|LRRC2|P|Leucine-rich repeat-containing 2||607180|REc|||| | ||
3.209|12|19|01|3p21.31|LZTFL1|P|Leucine zipper transcription factor-like 1||606568|REc|||| | |9(Lztfl1)|
3.210|3|10|98|3p21.2|MAPKAP3, 3PK|P|Mitogen-activated protein kinase-activated protein kinase-3||602130|REc|||| | ||
3.211|12|28|08|3q21.3|MGLL, MGL, HUK5|C|Monoglyceride lipase||609699|REc, H, R|||| | |6(Mgll)|
3.212|1|16|08|3p22.2|MLH1, COCA2, HNPCC2|C|mutL, E. coli, homolog of, 1||120436|Fd, A|||Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3);|Mismatch repair cancer syndrome, 276300 (3); Muir-Torre syndrome, 158320 (3)| ||
3.213|4|25|08|3p21.31|NME6|P|Nonmetastatic cells 6, protein expressed in||608294|R|||| | ||
3.214|1|20|95|3p21.31|MST1R, RON|P|Macrophage stimulating 1 receptor (c-met-related tyrosine kinase)||600168|A|||| | ||
3.215|6|27|02|3p21.31|NPR2L, NPRL2|P|Npr2, S. cerevisiae, homolog of||607072|REc|||| | ||
3.216|1|3|02|3p21.31|PTPN23, KIAA1471, HDPTP|P|Protein-tyrosine phosphatase, nonreceptor-type, 23||606584|R, REc|||| | ||
3.217|2|12|07|3p21.31|RASSF1|C|RAS association domain family protein 1||605082|D, REc|epigenetically inactivated||Lung cancer, 211980 (2)| | ||
3.218|8|3|12|3p21.31|RHOA, ARHA, ARH12, RHOH12|C|Ras homolog gene family, member A (oncogene RHO H12)||165390|A, Psh|||| | ||
3.219|4|29|02|3p21.31|RMB5, LUCA15|P|RNA-binding motif protein 5||606884|REc|||| | ||
3.220|4|29|02|3p21.31|RBM6, DEF3|P|RNA-binding motif protein 6||606886|REc|||| | |9(Rbm6)|
3.221|4|30|09|3p21.31|RTP3, TMEM7|P|Receptor-transporting protein 3||607181|REc|||| | ||
3.222|1|14|02|3p21.31|SACM1L, SAC1, KIAA0851|P|SAC1 suppressor of actin mutations 1-like||606569|REc|||| | ||
3.223|3|15|96|3p21.31|SEMA3F, SEMA4|P|Semaphorin III/F||601124|REc|||| | ||
3.224|7|8|96|3p21.31|SEMA5|P|Semaphorin A(V)||601281|REc|||| | ||
3.225|4|26|10|3p21.31|SHISA5, SCOTIN|P|Shisa, Xenopus, homolog of, 5||607290|REc|pseudogene on Xq13.1-q13.3||| | ||
3.226|4|20|10|3p21.31|SLC6A20, XT3|P|X transporter protein 3||605616|REc|||Hyperglycinuria, 138500 (3); Iminoglycinuria, digenic, 242600 (3)| | |9(Xt3)|
3.227|5|2|06|3p21.31|SLC26A6|P|Solute carrier family 26 (anion transporter), member 6||610068|REc|||| | ||
3.228|6|27|02|3p21.31|SLC38A3, SN1, G17|P|Solute carrier family 38, member 3||604437|REc|||| | ||
3.229|12|27|01|3p21.2|TLR9|P|Toll-like receptor 9||605474|REc|||| | ||
3.230|3|9|98|3p21.3|TRR|P|Transfer RNA arginine||601994|REc, A|||| | ||
3.231|3|18|08|3p21.31|UCN2, SRP, UR|P|Urocortin II||605902|REc|||| | ||
3.232|4|4|05|3p21.31|FUS1|P|FUS1 gene||607052|REc|||| | ||
3.233|2|28|94|3p21.31|UQCRC1|P|Ubiquinol-cytochrome c reductase core protein I||191328|REn|close upstream of COL7A1||| | ||
3.234|10|15|13|3p21.31|ZMYND10, BLU|P|Zinc finger MYND domain-containing protein 10||607070|REc|||Ciliary dyskinesia, primary, 22, 615444 (3)| | ||
3.235|6|1|07|3p21.31|ATRIP|C|ATR-interacting protein||606605|REc|||| | ||
3.236|3|8|00|3p24.1|EOMES, TBR2|P|Eomesodermin, Xenopus laevis, homolog of||604615|R|?translocation separating regulatory element from promoter||| | |9(Tbr2)|
3.237|6|26|02|3p21.31|HYAL1|C|Hyaluronoglucosaminidase 1||607071|A|||Mucopolysaccharidosis type IX, 601492 (3)| | |9(Hyal1)|
3.238|6|16|99|3p21.31|PRKAR2A|C|Protein kinase, cAMP-dependent, regulatory, type II, alpha||176910|REa, Psh|||| | ||
3.239|5|19|09|3p21.31|SETD2, SET2, HYPB, HBP231, KIAA1732|P|SET domain-containing protein 2||612778|A, REc|||| | ||
3.240|7|14|09|3p21.31|TREX1, AGS1, CRV, HERNS|C|3' repair exonuclease 1||606609|REc, Fd|||Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3);|Chilblain lupus, 610448 (3); Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3); {Systemic lupus erythematosus, susceptibility to},|152700 (3) ||
3.241|4|19|06|3p21.2|PARP3, ADPRTL3|C|Poly(ADP-ribose) polymerase 3||607726|REc, A, H|||| | |9(Adprtl3)|
3.242|8|28|02|3p21.31|XCR1, CCXCR1, GPR5|P|Chemokine, C motif, receptor 1 (G protein-coupled receptor-5)||600552|A|||| | ||
3.243|2|22|10|3p21.1|TNNC1, CMD1Z, CMH13|C|Troponin-C1, slow||191040|Psh, REa, R|||Cardiomyopathy, dilated, 1Z, 611879 (3); Cardiomyopathy, familial|hypertrophic, 13, 613243 (3) | |7(Tnnc1)|
3.244|2|23|09|3p21.31|IMPDH2, IMPD2|C|Inosine-5'-monophosphate dehydrogenase, type II||146691|Psh, A|||[IMPDH2 enzyme activity, variation in] (3)| | ||
3.245|9|23|13|3p21.2|PCBP4, MGC10|P|Poly(rC)-binding protein 4||608503|REc, A|||| | |9(Pcbp4)|
3.246|9|10|12|3p21.2|POC1A, PIX2, SOFT|P|POC1 centriolar protein, Chlamydomonas, homolog of, A||614783|REc|||Short stature, onychodysplasia, facial dysmorphism, and|hypotrichosis, 614813 (3) | ||
3.247|3|14|06|3p21.2|PPM1M, PP2CE|P|Protein phosphatase 1M|(protein phosphatase 2C, eta isoform)|608979|R, REc|||| | ||
3.248|6|21|01|3p21.31|AMT, NKH, GCE|P|Aminomethyltransferase (glycine cleavage system protein T)||238310|REa|||Glycine encephalopathy, 605899 (3)| | ||
3.249|4|8|02|3p21.2|GRM2, MGLUR2|C|Glutamate receptor, metabotropic, 2||604099|Psh, R|||| | ||
3.250|10|2|09|3p14.3|HESX1, RPX, CPHD5|P|Homeo box gene expressed in ES cells||601802|A|||Septooptic dysplasia, 182230 (3); Pituitary hormone deficiency,|combined, 5, 182230 (3); Growth hormone deficiency with pituitary anomalies, 182230 (3)| |14(Hesx1)|
3.251|10|6|92|3p21.1|ITIH1|C|Inter-alpha (globulin) inhibitor, H1 polypeptide||147270|A, H|||| | |14(Intin1)|
3.252|10|6|92|3p21.1|ITIH3|C|Inter-alpha (globulin) inhibitor, H3 polypeptide||146650|A, H|||| | |14(Intin3)|
3.253|2|7|06|3p14.3|SPATA12, SRG5|P|Spermatogenesis-associated protein 12||609869|REc|||| | ||
3.254|6|19|98|3p14.3|SLAP|P|Sarcolemmal-associated protein||602701|A|||| | ||
3.255|5|27|05|3p21.1|ITIH4, PK120, ITIHL1|P|Inter-alpha (globulin) inhibitor, H4 polypeptide||600564|A|||{Hypercholesterolemia, susceptibility to}, 143890 (3)| | |14(Itih4)|
3.256|2|24|06|3p21.2|ACY1, ACY1D|C|Aminoacylase-1||104620|S, REa, REn|||Aminoacylase 1 deficiency, 609924 (3)| | |9(Acy)|
3.257|7|8|95|3p21.2|ALAS1|C|Aminolevulinate, delta-, synthase-1||125290|REa, A, R, Psh|||| | ||
3.258|7|16|09|3p21.2|ARMET, ARP|P|Arginine-rich protein, mutated in early stage tumors||601916|REc, D|||| | ||
3.259|11|1|13|3p21.1|CACNA1D, CACNL1A2, CCHL1A2, SANDD, PASNA|C|Calcium channel, voltage-dependent, L type, alpha 1D subunit||114206|REa, H, REc|||Sinoatrial node dysfunction and deafness, 614896 (3); Primary|aldosteronism, seizures, and neurologic abnormalities, 615474 (3) | |14(Cch1a2)|
3.260|11|28|01|3p21.1-p14.3|CACNA2D3|P|Calcium channel, voltage-dependent, alpha-2/delta subunit 3||606399|REc|||| | ||
3.261|8|28|09|3p14.2|CADPS, CAPS|P|Ca(2+)-dependent activator protein for secretion||604667|Psh, REc|||| | ||
3.262|3|20|06|3p21.1|DCP1A, SMIF|C|Decapping enzyme 1, X. cerevisiae, homolog of, A||607010|R, REc|||| | ||
3.263|2|21|06|3p14.3|DNAH12, DNAHC3, HL19|P|Dynein, heavy chain-5||603340|REa, REc|||| | ||
3.264|4|26|10|3p14.3-p14.2|FAM107A, DRR1, TU3A|C|Family with sequence similarity 107, member A|(downregulated in renal cell carcinoma 1)|608295|REc, A|||| | ||
3.265|4|19|05|3p21.1|GNL3, NS, E2IG3|P|Guanine nucleotide-binding protein-like 3||608011|R, REc|||| | ||
3.266|5|13|02|3p21.2|GPR62|P|G protein-coupled receptor 62||606917|REc|||| | ||
3.267|1|29|01|3p21.1|IL17RB, IL17BR, IL17RH1|P|Interleukin 17, receptor B||605458|R|||| | ||
3.268|10|13|09|3p21.1|MIRLET7G, LET7G, MIRNLET7G|P|Micro RNA Let7G||612102|REc|||| | ||
3.269|5|24|02|3p21.1|NEK4, STK2, NRK2|P|NIMA (never in mitosis gene a)-related kinase 4|(serine/threonine protein kinase-2)|601959|REa|||| | ||
3.270|11|22|13|3p21.1|NISCH, IRAS, KIAA0975|P|Nischarin||615507|REc|||| | ||
3.271|9|28|12|3p13|PROK2, PK2, BV8, HH4|C|Prokineticin 2||607002|R|||Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3)| | |6(Prok2)|
3.272|2|17|09|3p21.2|RBM15B, OTT3, HUMAGCGB|P|RNA-binding motif protein 15B||612602|REc|||| | ||
3.273|5|15|08|3p21.1|RFT1, CDG1N|C|RFT1, S. cerevisiae, homolog of||611908|REc|||Congenital disorder of glycosylation, type In, 612015 (3)| | ||
3.274|9|9|13|3p21.1|SFMBT1, RU1|P|SCM-like protein with 4 MBT domains 1||607319|REc|||| | ||
3.275|8|19|13|3p21.1|SPCS1, SPC12|P|Signal peptidase complex, subunit 1, S. cerevisiae, homolog of||610358|R, REc|||| | ||
3.276|8|28|09|3p21.2|TWF2, PTK9L, A6RP|P|Twinfilin, actin-binding protein, Drosophila, homolog of, 2||607433|R, REc|||| | ||
3.277|9|9|10|3p21.2-p21.1|WDR82, TMEM113|P|WD repeat-containing protein 82||611059|R, REc|||| | ||
3.278|11|22|99|3p14.3|APPL1, APPL|P|Adaptor protein containing PH domain, PTB domain, and leucine zipper|motif 1|604299|A|||| | ||
3.279|1|18|12|3p14.3|DNASE1L3, SLEB16|P|Deoxyribonuclease I-like 3||602244|A, R|||Systemic lupus erythematosus 16, 614420 (3)| | ||
3.280|1|14|02|3p21.33|ABHD5, CGI58, IECN2, NCIE2|C|Abhydrolase domain containing 5||604780|Fd, REc|||Chanarin-Dorfman syndrome, 275630 (3)| | ||
3.281|6|7|94|3p21.31|APEH, D3S48E|C|N-acylaminoacyl-peptide hydrolase||102645|REa, A, D|||| | ||
3.282|8|28|09|3p21.31|ARIH2, ARI2, TRIAD1|P|Ariadne, Drisophila, homolog of, 2||605615|R, REc|||| | ||
3.283|11|4|93|3p21.31|CDC25A|P|Cell division cycle 25A||116947|REa, Psh, A|||| | ||
3.284|5|28|08|3p21|CELIAC9|P|Celiac disease, susceptibility to, 9||612007|Fd|associated with rs6441961||{Celiac disease, susceptibility to, 9} (2)| | ||
3.285|9|9|08|3p21.31|CCR1, CMKBR1, CKR1, HM145|P|Chemokine (C-C) receptor 1||601159|A|||| | |9(Cmkbr1)|
3.286|9|8|08|3p21.31|CCR2, CMKBR2|C|Chemokine (C-C) receptor 2||601267|REn|||{HIV infection, susceptibility/resistance to} (3)| | ||
3.287|1|27|04|3p21.31|CCRL2|P|Chemokine, CC motif, receptor-like protein 2||608379|REc|||| | ||
3.288|1|13|09|3p21.31|CCR5, CMKBR5, CCCKR5, IDDM22|C|Chemokine (C-C) receptor 5||601373|REc, R|||{HIV infection, susceptibility/resistance to} (3); {West nile virus,|susceptibility to}, 610379 (3); {Hepatitis C virus, resistance to}, 609532 (3); {Diabetes mellitus, insulin-dependent, 22}, 612522 (3)| ||
3.289|9|9|08|3p21.31|CXCR6, STRL33, BONZO|P|Chemokine, CXC motif, receptor 6||605163|REa, Psh|||| | ||
3.290|1|31|13|3p21.31|DAG1, DAG, MDDGC9|P|Dystrophin-associated glycoprotein-1||128239|REa, A|||Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9,|613818 (3) | |9(Dag1)|
3.291|11|20|98|3p21.2|DUSP7, MKPX, PYST2|P|Dual-specificity phosphatase-7||602749|Psh, A|||| | |9(Dusp7)|
3.292|9|9|08|3p21.31|FBXW12, FBW12, FBXO35, FBXO12|P|F-box and WD40 domain protein 12||609075|REc|||| | ||
3.293|4|15|11|3p21.1|GLYCTK, GLYCTK1|P|Glycerate kinase||610516|REc|||D-glyceric aciduria, 220120 (3)| | ||
3.294|8|10|98|3p21.31|GNAI2, GNAI2B, GIP|C|Guanine nucleotide-binding protein (G protein), alpha-inhibiting|activity polypeptide-2|139360|REa, A|on 12p13-p12, GNAI2L||Pituitary ACTH-secreting adenoma (3); Ventricular tachycardia,|idiopathic, 192605 (3) | |9(Gnai2)|
3.295|12|22|09|3p21.31|GNAT1, CSNBAD3|C|Guanine nucleotide-binding protein (G protein), alpha-transducing|(transducin) activity polypeptide-1|139330|REa, A|||Night blindness, congenital stationary, autosomal dominant 3,|610444 (3) | |9(Gnat1)|
3.296|1|25|11|3p21|HSCR6|P|Hirschsprung disease, susceptibility to, 6||606874|Fd|||{Hirschsprung disease, susceptibility to, 6} (2)| | ||
3.297|9|30|02|3p21.31|IHPK2, IP6K2|P|Inositol hexaphosphate kinase 2||606992|REc|||| | ||
3.298|9|6|11|3p21.31|LAMB2, LAMS, NPHS5|C|Laminin, beta-2 (laminin S)||150325|REa, A|||Nephrotic syndrome, type 5, with or without ocular abnormalities,|614199 (3); Pierson syndrome, 609049 (3) | ||
3.299|5|9|97|3p21.31|MAP4|P|Microtubule-associated protein 4||157132|A|||| | |9(Map4)|
3.300|8|27|92|3p21.31|MST1, HGFL|P|Macrophage-stimulating-1 (hepatocyte growth factor-like)||142408|REn, H|||| | |9(Hgfl)|
3.301|7|16|09|3p21.31|NCKIPSD, AF3P21, SPIN90|P|NCK-interacting protein with SH3 domain||606671|Ch|||| | ||
3.302|10|13|09|3p21.31|NICN1|P|Nicolin 1||611516|REc|processed pseudogene on X||| | |9(Nicn1)|
3.303|7|13|09|3p21.1|PBRM1, PB1, BAF180|P|Polybromo 1, chicken, homolog of||606083|R, REc|||| | ||
3.304|4|15|11|3p21|PSC|P|Cholangitis, primary sclerosing||613806|Fd|||Cholangitis, primary sclerosing (2)| | ||
3.305|8|30|09|3p21.31|QARS, GLNRS|P|Glutaminyl-tRNA synthetase||603727|REa, REc|||| | ||
3.306|9|24|09|3p22.2|SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2|C|Sodium channel, voltage-gated, type V, alpha polypeptide||600163|Fd, A|||Long QT syndrome-3, 603830 (3); Brugada syndrome 1, 601144 (3); Heart|block, progressive, type IA, 113900 (3); Heart block, nonprogressive, 113900 (3); Ventricular fibrillation, familial, 1, 603829 (3); Sick sinus|syndrome 1, 608567 (3); Cardiomyopathy, dilated, 1E, 601154 (3); {Sudden infant death syndrome, susceptibility to}, 272120 (3); Atrial fibrillation, familial, 10, 614022 (3)||
3.307|5|12|09|3p22.1|SNRK, KIAA0096|P|SNF-related kinase||612760|REc|||| | ||
3.308|1|11|07|3p22.1|SS18L2|P|SS18-like gene 2||606473|A|||| | ||
3.309|12|7|95|3p21.31|TCTA|P|T-cell leukemia translocation altered gene||600690|Ch|||| | ||
3.310|12|11|02|3p21.31|TMIE, DFNB6|C|Transmembrane inner ear-expressed gene||607237|Fd, H|||Deafness, autosomal recessive 6, 600971 (3)| | |?9(sr)|
3.311|1|6|14|3p21.31|UBE7, UBE1L|P|Ubiquitin-activating enzyme-7||191325|RE|||| | ||
3.312|1|30|01|3p13|GPR27, SREB1|P|G protein-coupled receptor 27||605187|R|||| | ||
3.313|11|8|94|3p25.3|HRH1|P|Histamine receptor, subclass H1||600167|REa, A|||| | |6(Hrh1)|
3.314|8|25|11|3p14.3|WNT5A|P|Wingless-type MMTV integration site family, member 5A||164975|Psh, A|||Robinow syndrome, autosomal dominant, 180700 (3)| | ||
3.315|3|14|96|3p14.1|TMF1|P|TATA element modulatory factor 1||601126|A|||| | ||
3.316|6|30|08|3p14.3|ARHGEF3, XPLN|P|RHO guanine nucleotide exchange factor 3||612115|A|||| | ||
3.317|3|11|09|3p21-p13|MPVQTL2|P|Mean platelet volume quantitative trait locus 2||612574|Fd|associated with rs12485738||[Mean platelet volume QTL2] (2)| | ||
3.318|9|30|98|3p14.3|ACOX2, BRCACOX|C|Acyl-Coenzyme A oxidase 2, branched chain||601641|A, Psh|||| | ||
3.319|1|31|12|3p14.3|FLNB, SCT, AOI, LRS1|C|Filamin B||603381|REa, REc, A, R, Fd|||Spondylocarpotarsal synostosis syndrome, 272460 (3); Larsen syndrome,|150250 (3); Atelosteogenesis, type I, 108720 (3); Atelosteogenesis, type III, 108721 (3); Boomerang dysplasia, 112310 (3)| ||
3.320|7|11|11|3p14.3|HESRG|P|Embryonic stem cell-related protein||611473|REc|||| | ||
3.321|3|17|08|3p14.3|PXK, MONAKA|P|PXK domain-containing serine/threonine kinase||611450|REc|||| | ||
3.322|9|23|13|3p14.3|RPP14|P|Ribonuclease P, 14kD subunit||606112|REc|||| | ||
3.323|8|20|07|3p14.1|SLC25A26, SAMC|P|Solute carrier family 25 (mitochondrial carrier, phosphate carrier),|member 26|611037|REc|||| | ||
3.324|4|23|09|3p21.1|TKT|P|Transketolase||606781|REa, A|||| | ||
3.325|4|18|07|3p14.3|ZLS|L|Zimmermann-Laband syndrome||135500|Ch|t(3;8)||?Zimmermann-Laband syndrome (2)| | ||
3.326|1|29|01|3p14.1|ADAMTS9|P|A disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 9|605421|A, Psh|||| | ||
3.327|6|11|13|3p14.3|IL17RD, SEF, HH18|P|Interleukin 17, receptor D|(Sef, zebrafish, homolog of)|606807|REc|||Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)| | ||
3.328|5|28|13|3p14.2|FAM3D|P|Family with sequence similarity 3, member D||608619|REc, R|||| | ||
3.329|8|5|02|3p14.2|FRA3B, FHIT|C|Fragile histidine triad gene||601153|REf, H|deleted in RCC||| | |14(Fhit, Fra14A2)|
3.330|3|22|93|3p14.2|PTPRG, PTPG|C|Protein tyrosine phosphatase, receptor type, gamma polypeptide||176886|REa, A, Fd|||| | ||
3.331|6|1|09|3p14.2|FEZF2, ZNF312, FEZL, TOF|P|FEZ family zinc finger 2||607414|REc|||| | ||
3.332|1|22|04|3p14.3|ARF4, ARF2|P|ADP-ribosylation factor 4||601177|REc, R|||| | ||
3.333|2|15|12|3p14.1|ATXN7, SCA7, OPCA3|C|Ataxin 7||607640|Fd, REc|||Spinocerebellar ataxia 7, 164500 (3)| | ||
3.334|2|15|12|3p14.1|ATXN7AS1, SCAANT1|P|ATXN7 antisense noncoding transcript 1||614481|REc|||| | ||
3.335|7|12|13|3p14.1|EOGT, EOGT1, C3orf64, AOS4|P|EGF domain-specific O-linked N-acetylglucosamine transferase||614789|REc|||Adams-Oliver syndrome 4, 615297 (3)| | ||
3.336|12|21|10|3p13|FOXP1, QRF1|P|Forkhead box P1||605515|REc|||Mental retardation with language impairment and autistic features,|613670 (3) | ||
3.337|3|3|09|3p14.1|MAGI1, BAIAP1, WWP3, TNRC19|P|Membrane-associated guanylate kinase, WW and PDZ domains-containing, 1||602625|A|||| | ||
3.338|5|25|13|3p14.1|SUCLG2|P|Succinate-CoA ligase, GDP-forming, beta subunit||603922|REc|||| | ||
3.339|4|23|08|3p14.1|THOC7, NIF3L1BP1|P|THO complex, subunit 7||611965|R, REc|||| | ||
3.340|4|23|07|3p14.1-q12.3|HYT7|P|Hypertension, essential, susceptibility to, 7||610948|Fd|||{Hypertension, essential, susceptibility to, 7} (2)| | ||
3.341|5|4|12|3p14-p13|MITF, WS2A, CMM8|C|Microphthalmia-associated transcription factor||156845|REa, A, Fd|||Waardenburg syndrome, type 2A, 193510 (3); Waardenburg|syndrome/ocular albinism, digenic, 103470 (3); Tietz albinism-deafness syndrome, 103500 (3); {Melanoma, cutaneous malignant, susceptibility to, 8},|614456 (3) |6(mi)|
3.342|1|12|11|3p14.1|ARL6IP5|P|ADP-ribosylation-like factor 6-interacting protein 5||605709|REc|||| | ||
3.343|2|16|04|3p21.2|DOCK3|C|Dedicator of cytokinesis 3||603123|R, Ch|||| | ||
3.344|2|21|06|3p13|EIF4E3|P|Eukaryotic translation initiation factor 4E family, member 3||609896|R, REc|||| | ||
3.345|2|25|09|3p14.1|LRIG1, LIG1|C|Leucine-rich repeats- and immunoglobulin-like domains-containing|protein 1|608868|A, H|||| | |6(Lrig1)|
3.346|3|31|11|3p14.1|PRICKLE2, EPM5|P|Prickle-like 2||608501|REc|||Epilepsy, progressive myoclonic 5, 613832 (3)| | ||
3.347|3|3|10|3p13|EBLN2|P|Endogenous Borna-like N element-containing protein 2||613250|REc|||| | ||
3.348|4|20|04|3p14-q13|KTCN3|P|Keratoconus 3||608586|Fd|||Keratoconus 3 (2)| | ||
3.349|8|28|09|3q13.2-q13.3|ATP6V1A1, HO68|P|ATPase, H+ transporting, lysosomal alpha polypeptide, 70-kD, isoform 1||607027|R, REc|||| | ||
3.350|3|29|10|3p13|GXYLT2, GLT8D4|P|Glucoside xylosyltransferase 2||613322|REc|||| | ||
3.351|12|28|08|3p13|PDZRN3, KIAA1095|P|PDZ domain-containing ring finger protein 3||609729|REc|||| | ||
3.352|4|7|11|3p13|PPP4R2, PP4R2|P|Protein phosphatase 4, regulatory subunit 2||613822|REc|||| | ||
3.353|8|30|09|3p13|RYBP, YEAF1|P|Ring1- and YY1-binding protein||607535|R, REc|||| | ||
3.354|12|14|10|3p13|SHQ1|P|Shq1, S. cerevisiae, homolog of||613663|REc|||| | ||
3.355|7|22|11|3p14.3|PDHB, PDHBD|P|Pyruvate dehydrogenase, E1 beta polypeptide||179060|REa|||Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)| | ||
3.356|3|29|07|3p12.3|ROBO2, SAX3, KIAA1568|P|Roundabout, Drosophila, homolog of, 2||602431|REc|||Vesicoureteral reflux 2, 610878 (3)| | |16(Robo2)|
3.357|9|21|12|3p12.2|GBE1, GSD4, APBD|P|Glycogen branching enzyme||607839|REa|||Glycogen storage disease IV, 232500 (3); Polyglucosan body disease,|adult form, 263570 (3) | ||
3.358|8|4|98|3p11.2-p11.1|HTR1F, HTR1EL, MR77|P|5-hydroxytryptamine receptor 1F||182134|R, A, Psh|||| | ||
3.359|3|22|06|3p12.1|IGSF4D, SYNCAM2, NECL3|P|Immunoglobulin superfamily, member 4D||609938|REc|||| | |16(Igsf4d)|
3.360|9|11|02|3p12.3-p12.2|ROBO1, DUTT1, SAX3|P|Roudnabout, Drosophila, homolog of, 1||602430|REc, D|||| | ||
3.361|1|24|04|3p11.1|CGGBP1|C|CGG triplet repeat binding protein 1||603363|REc, REa, A|||| | ||
3.362|9|28|10|3q11.2|ARL6, BBS3, RP55|C|ADP-ribosylation factor-like 6||608845|Fd, REc|||Bardet-Biedl syndrome 3, 209900 (3); {Bardet-Biedl syndrome 1,|modifier of}, 209900 (3); Retinitis pigmentosa 55, 613575 (3) | ||
3.363|4|30|02|3p12-q13|DYX5|P|Dyslexia, susceptibility to, 5||606896|Fd|?same locus as SSD||{Dyslexia, susceptibility to, 5} (2)| | ||
3.364|9|15|04|3q13.12-q13.13|IFT57, ESRRBL1, HIPPI|C|Intraflagellar transport 57, chlamydomonas, homolog of|(HIP1 protein interactor)|606621|R, REc|||| | ||
3.365|2|10|04|3p12-q13|SSD|P|Speech-sound disorder||608445|Fd|?same locus as DYX5||{Speech-sound disorder} (2)| | ||
3.366|1|25|11|3p12-q13.2|PBC1|P|Biliary cirrhosis, primary, 1||109720|Fd|associated with rs6441286||Biliary cirrhosis, primary, 1 (2)| | ||
3.367|5|3|93|3q25.33|IL12A|P|Interleukin-12A (natural killer cell stimulatory factor-1, cytotoxic|lymphocyte maturation factor-1, p35)|161560|REa, Psh|||| | ||
3.368|7|11|93|3q13.31|ZNF80|P|Zinc finger protein-80 (pT17)||194553|REa|||| | ||
3.369|7|18|12|3p11.2|CHMP2B, DMT1, VPS2B, ALS17|C|CHMP family, member 2B||609512|Fd, REc|||Dementia, familial, nonspecific, 600795 (3); Amyotrophic lateral|sclerosis 17, 614696 (3) | ||
3.370|8|18|98|3p11.1|EPHA3, ETK1, HEK|P|Ephrin receptor EphA3 (human embryo kinase 1)||179611|REa, A|||| | ||
3.371|10|2|09|3p11.2|POU1F1, PIT1, CPHD1|C|POU domain, class 1, transcription factor 1 (Pit1, growth hormone|factor 1)|173110|Fd, A|||Pituitary hormone deficiency, combined, 1, 613038 (3)| | |16(Pit1,dw)|
3.372|9|11|02|3p|CRCL|P|Creatinine clearance QTL||607135|Fd|in African Americans||Creatinine clearance QTL (2)| | ||
3.373|8|25|04|3p21.31|MYL3, CMH8|C|Myosin, light polypeptide-3, alkali; ventricular, skeletal, slow||160790|REa, H|||Cardiomyopathy, familial hypertrophic, 8, 608751 (3)| | |9(Mylc)|
3.374|12|9|13|3p21.1|PRKCD, CVID9|P|Protein kinase C, delta||176977|REa, H|mutation identified in 1 family||?Immunodeficiency, common variable, 9, 615559 (3)| | |14(Pkcd)|
3.375|9|8|11|3cen-q13|ERVK-5, HERV-KII|P|Endogenous retrovirus group K, member 5||614012|R, REc|||| | ||
3.376|5|4|00|3q13.11|CBLB|P|CAS-BR-M murine ecotropic retroviral transforming sequence B||604491|Psh, A|||| | ||
3.377|9|18|00|3q13.33|COX17|P|Cytochrome c oxidase assembly protein COX17||604813|R|pseudogene on chr. 13?||| | ||
3.378|5|12|00|3q29|PCYT1A, CTPCT, PCYT1|P|Phosphate cytidylyltransferase 1, choline, alpha isoform||123695|H, R|||| | |16(Ctpct)|
3.379|10|20|99|3q12.3|RPL24|P|Ribosomal protein L24||604180|REa, R|||| | ||
3.380|5|1|91|3q21.3|RPN1|C|Ribophorin I||180470|REa, Ch|||| | |6(Rpn1)|
3.381|9|14|12|3q12.2|TFG, HMSNP|P|TRK-fused gene||602498|A|fused with NR4A3 or NTRK1||Hereditary motor and sensory neuropathy, proximal type, 604484 (3);|Chondrosarcoma, extraskeletal myxoid, 612237 (1) | ||
3.382|11|19|09|3q11.1|ARL13B, ARL2L1, JBTS8|C|ADP-ribosylation factor-like 13B||608922|REc|||Joubert syndrome 8, 612291 (3)| | ||
3.383|5|25|13|3q11.2|EPHA6, HEK12, EHK2|P|Ephrin receptor EphA6||600066|REc|||| | ||
3.384|10|7|10|3q12.3|IMPG2, IPM200, RP56|P|Interphotoreceptor matrix proteoglycan 2||607056|R, A|||Retinitis pigmentosa 56, 613581 (3); Maculopathy, IMPG2-related,|613581 (3) | ||
3.385|3|1|12|3q11.1|PROS1, THPH5, THPH6|C|Protein S, alpha||176880|REa, REc|pseudogene PROSP contiguous on chr.3||Thrombophilia due to protein S deficiency, autosomal dominant,|612336 (3); Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)| ||
3.386|4|1|96|3q11.2|GPR15|P|G protein-coupled receptor-15||601166|A|||| | ||
3.387|3|16|10|3q11.2-q13.12|CAMPD1|P|Camptodactyly 1||114200|Fd|between D3S2465 and D3S3044||Camptodactyly 1 (2)| | ||
3.388|4|30|09|3q11.2-q12.1|CPOX|P|Coproporphyrinogen oxidase||612732|REa, A|||Coproporphyria, 121300 (3); Harderoporphyria, 121300 (3)| | ||
3.389|9|27|01|3q12.2|TARSH|P|Target of Nesh-SH3||606279|R|||| | ||
3.390|8|20|07|3q12.1|TMEM30C, CDC50C|P|Transmembrane protein 30C||611030|REc|||| | ||
3.391|11|28|88|3q13.2|MOX2|C|MRC OX-2 antigen||155970|REa, A|||| | ||
3.392|7|11|91|3q12.1|COL8A1|P|Collagen VIII, alpha-1 polypeptide||120251|A|||| | ||
3.393|2|21|13|3q12.1|DCBLD2, ESDN|P|Discoidin, CUB, and LCCL domain-containing protein 2||608698|REc, Psh|||| | ||
3.394|9|2|09|3q12.1|FILIP1L|P|Filamin A-interacting protein 1-like||612993|REc|||| | ||
3.395|6|10|08|3q11.2|MINA, MINA53, MDIG|P|MYC-induced nuclear antigen||612049|REc|||| | ||
3.396|8|30|09|3q12.1|ST3GAL6, ST3GALVI|P|ST3 beta-galactoside alpha-2,3-sialyltransferase 6||607156|R, REc|||| | ||
3.397|9|22|08|3q12.2|GPR128|P|G protein-coupled receptor 128||612307|REc|||| | ||
3.398|8|19|13|3q21.3|CHST13, C4ST3|P|Carbohydrate sulfotransferase 13||610124|REc|||| | ||
3.399|5|6|13|3q12.3|PCNP|P|PEST-containing nuclear protein||615210|REc|||| | ||
3.400|7|9|09|3q12.3|SENP7, KIAA1707|P|Sentrin-specific protease family, member 7||612846|REc|||| | ||
3.401|10|7|13|3q12.3|TRMT10C, RG9MTD1, MRPP1|P|tRNA methyltransferase 10, S. cerevisiae, homolog of, C||615423|REc|||| | ||
3.402|8|28|09|3q13.31|GAP43|P|Neuron growth-associated protein 43||162060|REa, REc|||| | |16(Gap43)|
3.403|5|22|03|3q13.2|GCET2, HGAL|P|Germinal center-expressed transcript 2||607792|REc|||| | ||
3.404|10|18|10|3q13.33|GOLGB1, GCP372|P|Golgi autoantigen, golgin subfmaily B, 1||602500|REc|||| | ||
3.405|9|29|96|3q13.33|HCLS1|P|Hematopoietic cell-specific Lyn substrate 1||601306|A|||| | ||
3.406|9|21|11|3q21.2|KALRN, HAPIP, DUO, CHDS5|C|Kalirin||604605|Fd, REc|||{Coronary heart disease, susceptibility to, 5}, 608901 (3)| | ||
3.407|4|14|05|3q27.1|MAGEF1|P|Melanoma antigen, family F, 1||609267|Psh, REc|||| | ||
3.408|1|28|00|3q13.13|MORC1|C|MORC family CW-type zinc finger 1|(microrchidia, mouse, homolog of)|603205|H, A|||| | |16(Morc)|
3.409|8|30|09|3q13.13|PVRL3, PRR3|P|Poliovirus receptor-like 3||607147|R, REc|||| | ||
3.410|5|25|00|3q13.13|TRAT1, TRIM|P|T-cell receptor-associated transmembrane adaptor 1||604962|A|||| | ||
3.411|4|16|11|3q21.2|UMPS, OPRT|C|Uridine monophosphate synthetase (orotate phosphoribosyl transferase|and orotidine-5'-decarboxylase)|613891|S, A|||Orotic aciduria, 258900 (3)| | ||
3.412|1|3|02|3q13.33|NR1I2, PXR, SXR, PARq|P|Nuclear receptor subfamily 1, group I, member 2||603065|R, A|||| | ||
3.413|1|13|09|3q13.2|CD200R1, MOX2R, OX2R|P|CD200 receptor 1||607546|REc|||| | ||
3.414|12|13|00|3q13.13|GUCA1C, GCAP3|P|Guanylate cyclase activator 1C||605128|Psh, A|||| | ||
3.415|11|25|96|3q13.1|MHS4|P|Malignant hyperthermia susceptibility 4||600467|Fd|||{Malignant hyperthermia susceptibility 4} (2)| | ||
3.416|7|20|09|3q12.3|NFKBIZ, INAP, MAIL, IKBZ|P|Nuclear factor of kappa light chain gene enhancer in B cells|inhibitor, zeta|608004|REc|||| | |16(Inap)|
3.417|2|19|97|3q13.11|ALCAM|P|Activated leucocyte cell adhesion molecule||601662|A|||| | ||
3.418|3|24|06|3p12.1|VGLL3, VGL3|P|Vestigial-like 3||609980|REc|||| | ||
3.419|1|14|00|3q13.12|CD47, MER6, IAP|C|CD47 antigen (Rh-related antigen; integrin-associated protein)||601028|S, A|||| | ||
3.420|8|25|11|3q13.1-q13.2|CD96, TACTILE|C|CD96 antigen||606037|R, REc, Ch|||C syndrome, 211750 (3)| | ||
3.421|1|30|12|3q13.13|DPPA2, PESCRG1, ECAT15-2|P|Developmental pluripotency-associated gene 2||614445|REc|||| | |16(Dppa2)|
3.422|7|27|11|3q13.13|DPPA4|P|Developmental pluipotency-associated gene 4||614125|REc|||| | ||
3.423|5|25|13|3q13.13|HHLA2|P|Human endogenous retrovirus-H long terminal repeat-associating 2||604371|REc|||| | ||
3.424|1|5|09|3q13.13|KIAA1524, p90|C|KIAA1524 gene||610643|R, REc|||| | ||
3.425|3|1|06|3q13.13|MYH15|P|Myosin, heavy chain 15||609929|REc|||| | ||
3.426|4|23|08|3q13.2|C3orf52, TTMP|P|Chromosome 3 open reading frame 52||611956|REc|||| | ||
3.427|3|6|07|3q13.2|NAT13, NAT5, SAN|P|N-acetyltransferase 13||610834|REc|||| | ||
3.428|5|24|13|3q13.2|PHLDB2|P|Pleckstrin homology-like domain, family B, member 2||610298|REc, R|||| | ||
3.429|4|30|09|3q13.2|SLC9A10|P|Solute carrier family 9, member 10||612738|REc|||| | ||
3.430|11|3|11|3q13.2|SPICE1, CCDC52|P|Spindle- and centriole-associated protein 1||613447|REc|||| | ||
3.431|9|9|13|3q13.2|TAGLN3, NP24, NP22|P|Transgelin 3||607953|REc, R|||| | ||
3.432|12|5|03|3q13.2|URB, SSG1|P|Urb, mouse, homolog of||608298|R, H, REc|||| | |16(Urb)|
3.433|5|28|13|3q13.2|ZBED2|P|Zinc finger BED domain-containing protein 2||615246|REc|||| | ||
3.434|4|7|09|3q13.31|ZBTB20, ZNF288, DPZF|C|Zinc finger and BTB-domain containing 20||606025|A, R|||| | ||
3.435|2|28|03|3q13.33|PLA1A, PSPLA1|P|Phosphatidylserine-specific phospholipase A1-alpha||607460|A, H|||| | |16(Pla1a)|
3.436|6|7|12|3q13.2-q13.33|STUT3|P|Stuttering, familial persistent, 3||614655|Fd|max lod at D3S1310||Stuttering, familial persistent, 3 (2)| | ||
3.437|8|31|12|3q21.1|ADCY5, FDFM|C|Adenylate cyclase-5||600293|REa, A|||Dyskinesia, familial, with facial myokymia, 606703 (3)| | |16(Adcy5)|
3.438|11|3|98|3q13.31|LSAMP, LAMP|P|Limbic system-associated membrane protein||603241|A|||| | |16(Lsamp)|
3.439|5|4|12|3q13.33|ARHGAP31, CDGAP, KIAA1204, AOS1|P|Rho GTPase-activating protein 31||610911|R, REc|||Adams-Oliver syndrome 1, 100300 (3)| | ||
3.440|7|9|07|3q13.33|ARGFX|P|Arginine-fifty homeobox||611164|REc|pseudogenes on 5q23.2 and 17q11.2||| | ||
3.441|8|9|99|3q13.32|B4GALT4|P|Beta-1,4-galactosyltransferase 4||604015|REc|||| | ||
3.442|7|3|06|3q13.31|DRD3, ETM1, FET1|P|Dopamine receptor D3||126451|REb, A|||{Schizophrenia, susceptibility to}, 181500 (3); {Essential tremor,|susceptibility to}, 190300 (3) | ||
3.443|5|3|13|3q13.33|FSTL1, FRP, MIR198|P|Follistatin-like 1||605547|R, REc|FSTL1 mRNA can encode a protein or produce an micoRNA||| | ||
3.444|5|25|00|3q13.33|GSK3B|P|Glycogen synthase kinase 3-beta||605004|A, R, Psh|||| | ||
3.445|8|27|08|3q21.2|MUC13|P|Mucin 13, cell surface-associated||612181|A|||| | ||
3.446|5|4|00|3q13.33|POLQ|P|Polymerase, DNA, theta||604419|R|||| | ||
3.447|10|15|09|3q13.33|POPDC2, POP2|P|Popeye domain-containing protein 2||605823|R, REc|||| | ||
3.448|5|26|05|3q13.33|STXBP5L, LLGL4|P|Syntaxin-binding protein 5-like||609381|REc|||| | ||
3.449|7|13|09|3q13.31|TIGIT|P|T-cell immunoreceptor with immunoglobulin and ITIM domains||612859|REc|||| | ||
3.450|4|15|11|3q22.1|TRH|C|Thyrotropin-releasing hormone||613879|REa, H, A|||Thyrotropin-releasing hormone deficiency, 275120 (1)| | |6(Trh)|
3.451|4|23|98|3q13.32|UPK1B|P|Uroplakin 1B||602380|A|||| | ||
3.452|4|17|13|3q13.33|MAATS1, AAT1, C3orf15|P|MYCBP-associated testis-expressed protein 1||609910|REc|||| | ||
3.453|3|16|04|3q21.3|ZNF9, CNBP1, DM2, PROMM|C|Zinc finger protein-9 (a cellular retroviral nucleic acid-binding|protein)|116955|REa, A, Fd|||Myotonic dystrophy 2, 602668 (3)| | ||
3.454|9|29|13|3q13.31|DEL3q13.31, C13DELq13.31|P|Chromosome 3q13.31 deletion syndrome||615433|Ch|||Chromosome 3q13.31 deletion syndrome (4)| | ||
3.455|6|13|12|3q13.33|ADPRH|P|ADP-ribosylarginine hydrolase||603081|REc|||| | ||
3.456|4|19|12|3q13.33|GPR156, GABABL|C|G protein-coupled receptor 156||610464|REc|||| | ||
3.457|8|8|13|3q13.33|GTF2E1, TF2E1|P|General transcription factor IIE, poypeptide 1||189962|REc|||| | ||
3.458|5|25|13|3q13.33|NDUFB4|P|NADH-ubiquinone oxidoreductase 1 beta subcomplex, 4||603840|REc|||| | ||
3.459|10|2|12|3q13.33|SLC15A2, PEPT2|P|Solute carrier family 15 (H+/peptide transporter), member 2||602339|REc|||| | ||
3.460|11|19|13|3q13.33|TIMMDC1, C3orf1|P|Translocase of inner mitochondiral membrane domain-containing protein|1|615534|REc|||| | ||
3.461|12|4|03|3q21.3|ABTB1, BPOZ|P|Ankyrin repeat and BTB/POZ domain containing 1||608308|R|||| | ||
3.462|4|1|01|3q21|ATOD1|P|Dermatitis, atopic, 1||603165|Fd|max lod at D3S3606||{Dermatitis, atopic, susceptibility to, 1} (2)| | ||
3.463|12|9|95|3q13.33|CD80, CD28LG, LAB7|C|CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)||112203|REa, Psh, A|||| | |3(Cd80)|
3.464|3|2|98|3q13.33|CD86, CD28LG2, LAB72|P|CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)||601020|A|||| | |16(Cd86)|
3.465|4|1|08|3q22.1|COL29A1|P|Collagen, type XXIX, alpha-1||611916|REc|||| | ||
3.466|11|3|11|3q21.1|CSTA, STFA, STF1, AREI|P|Cystatin A (stefin A)||184600|REa, D|||Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of|Siemens-like, 607936 (3) | |16(Stf1)|
3.467|10|30|02|3q21.1|DIRC2, RCC4|C|Disrupted in renal carcinoma 2||602773|Ch, REc|t(2;3)(q35;q21) in renal cell carcinoma||Renal cell carcinoma, 144700 (2)| | ||
3.468|12|21|09|3q21.1|DTX3L, BBAP|P|DTX3-like||613143|REc|head-to-head with PARP9||| | ||
3.469|7|8|10|3q21|FGQTL6, BWQTL3, PGQTL1|P|Fasting plasma glucose level QTL 6; Birth weight QTL 3; Plasma|glucose, 2-hour, QTL 1|613460|Fd|associated wtih rs11708067 and rs11708067||[Fasting plasma glucose level QTL 6] (2); [Birth weight QTL 3] (2);|[Plasma glucose, 2-hour, QTL 1] (2) | ||
3.470|12|19|05|3q21.3|GP9|P|Glycoprotein IX, platelet||173515|REb, REc|||Bernard-Soulier syndrome, type C, 231200 (3)| | ||
3.471|11|3|11|3q21.3|GATA2, DCML, MONOMAC|P|GATA-binding protein-2||137295|REa, REc|||Dendritic cell, monocyte, B lymphocyte, and natural killer|lymphocyte deficiency, 614172 (3); Emberger syndrome, 614038 (3); {Myelodysplastic syndrome, susceptibility to}, 614286 (3); {Leukemia, acute|myeloid, susceptibility to}, 601626 (3) |6(Gata2)|
3.472|6|5|12|3q21.3-q22.1|IFT122, WDR10, CED1|P|Intraflagellar transport 122, homolog of||606045|A|||Cranioectodermal dysplasia 1, 218330 (3)| | ||
3.473|2|14|01|3q21.1|KPNA1, RCH2, SRP1|P|Karyopherin, alpha-1||600686|A|||| | ||
3.474|5|11|06|3q22.2|KY|P|Kyphoscoliosis peptidase||605739|R|||| | |9(ky)|
3.475|8|18|97|3q21.3|MCM2, CDCL1|P|Minichromosome maintenance deficient, S. cerevisiae, 2, homolog of|(mitotin)|116945|A|||| | ||
3.476|3|10|11|3q21.1|MYLK, MLCK, AAT7|C|Myosin-light-polypeptide kinase||600922|Psh, REc|pseudogene on 3p13||Aortic aneurysm, familial thoracic 7, 613780 (3)| | ||
3.477|10|26|98|3q22.3|NCK|C|Non-catalytic region of tyrosine kinase||600508|A, REn, REa|||| | ||
3.478|6|10|08|3q21.1|PARP9, BAL1, BAL|C|Poly(ADP-ribose) polymerase 9||612065|A, REa, REc, REn|||| | ||
3.479|6|24|08|3q21.1|PARP15, BAL3|P|Poly(ADP-ribose) polymerase 15||612066|REc|||| | ||
3.480|12|14|99|3q21|PSORS5|P|Psoriasis susceptibility 5||604316|Fd|||{Psoriasis susceptibility 5} (2)| | ||
3.481|3|3|03|3q21.3|RAB7, CMT2B, PSN|C|Ras-associated protein RAB7||602298|Psh, A, Fd|||Charcot-Marie-Tooth disease, type 2B, 600882 (3)| | |9(Rab7)|
3.482|6|16|99|3q21.3|RUVBL1, NMP238, TIP49|P|RUVB, E. coli, homolog-like 1||603449|A|||| | ||
3.483|1|24|12|3q22.1-q22.2|SLCO2A1, OATP2A1, PGT, SLC21A2, PHOAR2|P|Solute carrier organic anion transporter family, member 2A1||601460|Psh, A|||Hypertrophic osteoarthropathy, primary, autosomal recessive 2,|614441 (3) | ||
3.484|9|1|11|3q22.1|TF, TFQTL1|C|Transferrin||190000|S, H, REa, D, A|||Atransferrinemia, 209300 (3)| | |9(Trf)|
3.485|2|22|07|3q21.3|TXNRD3, TRXR3, TR2|P|Thioredoxin reductase 3||606235|REc|||| | ||
3.486|11|3|11|3q21.2|ZNF148, ZFP148|C|Zinc finger protein-148||601897|REc, A|||| | ||
3.487|12|27|01|3q21.3|KLF15, KKLF|P|Kruppel-like factor 15||606465|A|||| | ||
3.488|11|2|99|3q21.3|MBD4, MED1|P|Methyl-CpG-binding domain protein 4||603574|A|||| | |6(Mdb4)|
3.489|12|13|06|3q21-q22|HCFP1, MBS2|P|Facial paresis, hereditary congenital, 1||601471|Fd|||Facial paresis, hereditary congenital, 1 (2)| | ||
3.490|12|23|05|3q22.1|NEK11|P|Never in mitosis gene A-related kinase 11||609779|REc|||| | ||
3.491|6|21|01|3q22.3|PCCB|C|Propionyl Coenzyme A carboxylase, beta polypeptide||232050|REa, A, D|pccB complementation group||Propionicacidemia, 606054 (3)| | ||
3.492|12|22|89|3q23|RBP1, CRBP1|C|Retinol-binding protein-1, cellular||180260|REa, A|close to CRBP2||| | |9(Crbp)|
3.493|10|4|93|3q22.1|ACPP|C|Acid phosphatase, prostate||171790|REa, A|||| | ||
3.494|11|5|97|3q22.2|EPHB1, EPHT2, NET|P|eph tyrosine kinase 2 (ephrin receptor EphB1)||600600|Psh, A|||| | ||
3.495|5|29|12|3q23|GRK7, GPRK7|P|G protein-coupled receptor kinase 7||606987|R|||| | ||
3.496|1|16|03|3q13.33|HGD, AKU|C|Homogentisate 1,2-dioxygenase (homogentisate oxidase)||607474|Fd, H, Psh, A|||Alkaptonuria, 203500 (3)| | |16(aku)|
3.497|12|29|99|3q22.1|ATP2C1, BCPM, HHD|C|ATPase, Ca(2+)-sequestering||604384|Fd, REc|||Hailey-Hailey disease, 169600 (3)| | ||
3.498|6|4|97|3q21-q24|GLC1C|C|Glaucoma 1, open angle, C||601682|Fd|||Glaucoma 1C, primary open angle (2)| | ||
3.499|6|27|02|3q23|PCOLCE2|P|Procollagen C-endopeptidase enhancer-2||607064|REc|||| | ||
3.500|1|31|13|3q22.1|RHO, RP4, OPN2, CSNBAD1|C|Rhodopsin (opsin 2)||180380|REa, A, Fd|||Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3);|Night blindness, congenital stationary, autosomal dominant 1, 610445 (3); Retinitis punctata albescens, 136880 (3)| |6(Rho)|Rosenfeld (1992)
3.501|10|4|05|3q24|AGTR1, AGTR1A, AT2R1|C|Angiotensin receptor 1||106165|REa|||Hypertension, essential, 145500 (3); Renal tubular dysgenesis,|267430 (3) | ||
3.502|5|24|12|3q22.1|BFSP2, CP49, CP47, CTRCT12|C|Beaded filament structural protein 2 (cytoskeletal protein, 49 kD)||603212|REa|||Cataract 12, multiple types, 611597 (3)| | ||
3.503|8|25|11|3q25.1|CLRN1, USH3A, USH3, RP61|C|Clarin 1||606397|Fd, REc|frequent in Finland; ?digenic interaction with MYO7A||Usher syndrome, type 3A, 276902 (3); Retinitis pigmentosa 61, 614180|(3) | |3(Ush3)|
3.504|1|27|11|3q25.1|MED12L, NOPAR, KIAA1635|C|Mediator complex subunit 12-like||611318|Psh, REc|||| | ||
3.505|2|3|99|3q25.1|TM4SF1, M3S1, TAAL6|P|Transmembrane-4 superfamily, member 1||191155|REa|||| | ||
3.506|9|8|11|3q21-q25.2|ERVK-4, HERV-KI|P|Endogenous retrovirus group K, member 4||614011|R, REc|||| | ||
3.507|7|15|02|3q25.2|MME, CD10, CALLA, NEP|C|Membrane metallo-endopeptidase (common acute lymphocytic leukemia|antigen)|120520|REa, A|||[Neutral endopeptidase deficiency] (1); Membranous|glomerulonephritis, antenatal (1) | |9(Mme)|
3.508|1|1|95|3q27.3|SIAT1|P|Sialyltransferase-1 (beta-galactoside alpha-2,6-sialytransferase)||109675|REa, A|||| | ||
3.509|9|2|12|3q26.2|TERC, TRC3, TR, DKCA1, PFBMFT2|P|Telomerase RNA component||602322|H, Fd|||Dyskeratosis congenita, autosomal dominant 1, 127550 (3); {Aplastic|anemia}, 614743 (3); {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743 (3)| |3(Terc)|
3.510|10|15|97|3q27.1|EPHB3, ETK2|P|EPH-like tyrosine kinase-2||601839|Psh|||| | ||
3.511|12|2|99|3q21.3|PLXNA1, NOVP, NOV, PLXN1|P|Plexin A1 (NOV transmembrane protein)||601055|REa|||| | ||
3.512|12|22|87|3q23|RBP2, CRBP2|P|Retinol-binding protein-2, cellular||180280|REa|close to CRBP1||| | |9(Crbp2)|
3.513|1|12|07|3q21.1|C3orf28, E2IG5|P|E2-induced gene 5||608017|R, REc|||| | ||
3.514|8|13|13|3q21.1|CASR, HHC1, PCAR1, FIH, EIG8, HYPOC1|C|Calcium-sensing receptor||601199|Fd, REa|15cM from RHO||Hypocalciuric hypercalcemia, type I, 145980 (3); Hyperparathyroidism,|neonatal, 239200 (3); Hypocalcemia, autosomal dominant, 601198 (3); Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3); {Epilepsy|idiopathic generalized, susceptibility to, 8}, 612899 (3); Hypercalciuric hypercalcemia (3); {Calcium, serum level of} (3)|16(Gprc2a)|Chou (1992)
3.515|9|9|08|3q13.33|FBXO40, FBX40, KIAA1195|C|F-box only protein 40||609107|R, REc|||| | |16(Fbxo40)|
3.516|3|28|11|3q13.33|ILDR1, DFNB42|P|Immunoglobulin-like domain-containing receptor 1||609739|REc|||Deafness, autosomal recessive 42, 609646 (3)| | ||
3.517|3|31|05|3q13.33|IQCB1, NPHP5, KIAA0036|P|IQ motif-containing protein B1||609237|REc|||Senior-Loken syndrome 5, 609254 (3)| | ||
3.518|11|01|07|3q21.2|OSBPL11, ORP11|P|Oxysterol-binding protein-like protein 11||606739|REc|previously assigned to chr.8||| | ||
3.519|4|19|06|3q21.1|PARP14, KIAA1268|P|Poly(ADP-ribose) polymerase 14||610028|R, REc|||| | ||
3.520|1|28|08|3q21.1|ROPN1, ODF6|P|Rhophilin-associated tail protein 1||611757|REc|||| | ||
3.521|11|25|08|3q21.1|SEC22A, SEC22L2|P|Secretion deficient 22, S. cerevisiae, homolog of, A||612442|R, REc|||| | ||
3.522|9|6|11|3q21.2|HEG1, KIAA1237|P|Heart of glass, zebrafish, homolog of, 1||614182|REc|||| | ||
3.523|3|8|07|3q21.2-q21.3|SLC41A3|P|Solute carrier family 41, member 3||610803|R, REc|||| | ||
3.524|8|30|09|3q21.2|SNX4|P|Sorting nexin 4||605931|R, REc|||| | ||
3.525|1|27|11|3q21.3|ALDH1L1, FTHFD|P|Aldehyde dehydrogenase 1 family, member L1||600249|REc|||| | ||
3.526|11|19|13|3q21.3|COPG1|P|Coatomer protein complex, subunit gamma-1||615525|REc|||| | ||
3.527|6|21|13|3q21.3|DNAJB8, DJ6|P|DNAJ/HSP40 homolog, subfamily B, member 8||611337|REc, R|||| | ||
3.528|9|9|13|3q21.3|EEFSEC, SELB, EFSEC|P|Eukaryotic elongation factor, selenocysteine-tRNA-specific||607695|REc|||| | ||
3.529|5|12|09|3q21.3|ISY1, KIAA1160|P|ISY1 splicing factor, S. cerevisiae, homolog of||612764|R, REc|||| | ||
3.530|9|17|09|3q21.3|UROC1|P|Urocanase domain-containing protein 1||613012|REc|||Urocanase deficiency, 276880 (3)| | ||
3.531|6|4|98|3q25.1|AADAC, DAC|P|Arylacetamide deacetylase (esterase)||600338|R|||| | ||
3.532|7|17|01|3q22.1|CCRL1, PPR1|P|Chemokine (C-C) receptor-like 1||606065|A|||| | ||
3.533|6|19|01|3q22|DFNA18|P|Deafness, autosomal dominant 18||606012|Fd|||Deafness, autosomal dominant 18 (2)| | ||
3.534|9|9|10|3q22.1|NPHP3, NPH3, RHPD1, MKS7|C|Nephrocystin 3||608002|Fd, REc|||Nephronophthisis 3, 604387 (3); Renal-hepatic-pancreatic dysplasia 1,|208540 (3); Meckel syndrome 7, 267010 (3) | ||
3.535|8|28|09|3q22.1|PLXND1|P|Plexin D1||604282|REn, REc|||| | ||
3.536|9|4|02|3q22|SLSN3|P|Senior-Loken syndrome 3||606995|Fd|?allelic with NPHP3||Senior-Loken syndrome 3 (2)| | ||
3.537|11|8|06|3q22.1|UBE1DC1, UBA5|P|Ubiquitin-activating enzyme E1-domain containing 1||610552|REc|||| | ||
3.538|4|13|98|3q23|ATP1B3|P|ATPase, Na+/K+ transporting, beta 3 polypeptide||601867|A|||| | |9(Atp1b3)|
3.539|1|21|97|3q23|RASA2, GAP1M|P|RAS p21 protein activator 2||601589|A|||| | ||
3.540|8|30|07|3q22-q24|AD15|P|Alzheimer disease 15||611155|Fd|max lod at D3S1579||{Alzheimer disease-15} (2)| | ||
3.541|4|12|12|3q23|ATR, FRP1, SCKL1, FCTCS|C|Ataxia-telangiectasia and Rad3-related (FRAP-related protein-1)||601215|A, Fd|||Seckel syndrome 1, 210600 (3); Cutaneous telangiectasia and|cancer syndrome, familial, 614564 (3) | ||
3.542|4|20|11|3q22-q24|DWS, C3DELq22q24, DEL3q22q24|P|Dandy-Walker syndrome||220200|Ch|ZIC1 and ZIC4 good candidate genes||Dandy-Walker syndrome (4)| | ||
3.543|6|12|07|3q22-q24|OTSC5|P|Otosclerosis 5||608787|Fd|max lod at D3S1569||Otosclerosis 5 (2)| | ||
3.544|8|9|99|3q23|RNF7, ROC2, SAG|P|RING finger protein-7 (regulator of cullins 2; sensitive to apoptosis|gene)|603863|A|||| | ||
3.545|4|23|98|3q23|TRPC1, TRP1|P|Transient receptor potential channel 1||602343|A|also called Htrp-1||| | ||
3.546|5|4|00|3q25.31|PABPL1|P|Polyadenylate-binding protein-like 1||173865|A|||| | ||
3.547|10|18|11|3q22.1|ACAD11|P|Acyl-CoA dehydrogenase family, member 11||614288|REc|||| | ||
3.548|5|25|13|3q22.1|CPNE4, CPN4|P|Copine IV||604208|REc|||| | ||
3.549|11|19|11|3q22.1|DNAJC13, RME8, KIAA0678|C|DNAJ/HSP40 homolog, subfamily C, member 13||614334|R, REc|||| | ||
3.550|4|27|12|3q22.1|MRPL3, MRL3, COXPD9|P|Mitochondrial ribosomal protein L3||607118|R, REc|||Combined oxidative phosphorylation deficiency 9, 614582 (3)| | ||
3.551|8|30|09|3q22.1|TOPBP1, KIAA0259|P|DNA topoisomerase II-binding protein 1||607760|R, REc|||| | ||
3.552|5|29|12|3q22.2|AMOTL2, KIAA0989|P|Angiomotin-like 2||614658|REc|||| | ||
3.553|2|23|12|3q22.2|ANAPC13, APC13, SWM1|P|Anaphase-promoting complex, subunit 13||614484|REc|||| | ||
3.554|7|18|12|3q22.2|CEP63|P|Centrosomal protein, 63kD||614724|REc|||Seckel syndrome 6, 614728 (3)| | ||
3.555|10|2|12|3q22.2|RYK, RYK1|P|RYK receptor-like tyrosine kinase||600524|REc, Ch|||| | |9(Ryk1)|
3.556|10|25|11|3q22.3|CEP70|P|Centrosomal protein, 70kD||614310|REc|||| | ||
3.557|2|2|04|3q22.3|MRAS, RRAS3|P|Muscle Ras viral oncogene homolog||608435|REc|||| | ||
3.558|9|9|08|3q22.3|PIK3CB, PI3KCB|P|Phosphatidylinositol 3-kinase, catalytic, beta||602925|R, REc|||| | ||
3.559|9|30|02|3q23|COPB2|P|Coatomer protein complex, subunit beta-2||606990|A|||| | ||
3.560|11|2|04|3q22.3|FOXL2, BPES, BPES1, PFRK, POF3|C|Forkhead transcription factor FOXL2||605597|Ch, Fd|||Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100|(3); Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3); Premature ovarian failure 3, 608996 (3)| ||Alvarado (1987); Fujita (1992)
3.561|1|23|08|3q23|MRPS22, C3orf5, COXPD5|C|Mitochondrial ribosomal protein S22||605810|REc|||Combined oxidative phosphorylation deficiency 5, 611719 (3)| | ||
3.562|8|29|07|3q23|NMNAT3, PNAT3|P|Nicotinamide nucleotide adenylyltransferase 3||608702|R, REc|||| | ||
3.563|4|19|12|3q23|PAQR9|P|Progestin and ADIPOQ receptor family, member 9||614580|REc|||| | ||
3.564|8|28|09|3q23|PLS1|P|Plastin-1||602734|REa, REc|||| | ||
3.565|10|19|99|3q24|PLSCR1, MMTRA1B|P|Phospholipid scramblase 1||604170|A|||| | ||
3.566|3|10|03|3q24|PLSCR2|P|Phospholipid scramblase 2||607610|R|||| | ||
3.567|3|10|03|3q24|PLSCR4|P|Phospholipid scramblase 4||607612|REc|||| | ||
3.568|6|5|00|3q22.3|SOX14|C|SRY-box 14||604747|A, R, REc|||| | ||
3.569|12|18|07|3q23|SPSB4, SSB4|P|SPRY domain- and SOCS box-containing 4||611660|REc|||| | ||
3.570|2|17|09|3q23|STQTL10|P|Stature quantitative trait locus 10||612221|Fd|associated with rs6440003||{Stature QTL 10} (2)| | ||
3.571|3|5|98|3q23|TFDP2, DP2|P|Transcription factor Dp-2 (E2F dimerization partner 2)||602160|A|||| | ||
3.572|2|17|09|3q23|ZBTB38|P|Zinc finger- and BTB domain-containing protein 38||612218|REc|||| | ||
3.573|6|4|02|3q24-q25|CP|C|Ceruloplasmin||117700|F, H, REa, A|~15cM from TF||[Hypoceruloplasminemia, hereditary], 604290 (3);|Cerebellar ataxia, 604290 (3); Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)| |9(Cp)|
3.574|5|31|05|3q24|PLOD2, LH2, TLH|C|Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase)|2|601865|Psh, A|||Bruck syndrome 2, 609220 (3)| | |9(Plod2)|
3.575|8|29|08|3q24|C3orf58, DIA1|P|Chromosome 3 open reading frame 58||612200|REc|||| | ||
3.576|6|2|06|3q24|CHST2|P|Carbohydrate sulfotransferase-2 (GlcNAc-6-O-sulfotransferase;|N-acetylglucosamine-6-O-sulfotransferase)|603798|REc|mapped by FISH to 7q31||| | ||
3.577|8|28|09|3q24|CPA3|P|Carboxypeptidase A3, mast cell||114851|Psh, REc|||| | ||
3.578|2|27|01|3q25.31|GMPS|C|Guanine monophosphate synthetase||600358|A, Ch|fusion gene with MLL in AML||Leukemia, acute myelogenous, 601626 (3)| | ||
3.579|11|28|01|3q25.1|GPR86|P|G protein-coupled receptor 86||606380|REc|||| | ||
3.580|11|28|01|3q25.1|GPR87|P|G protein-coupled receptor 87||606379|REc|||| | ||
3.581|7|16|01|3q24|HPS3|P|HPS gene 3||606118|HZ, Fd|||Hermansky-Pudlak syndrome 3, 614072 (3)| | |3(Hps3)|
3.582|12|27|13|3q24|SLC9A9, AUTS16|C|Solute carrier family 9 (sodium/hydrogen exchanger), member A9||608396|Ch, REc|mutation identified in 1 family||?{Autism susceptibility 16}, 613410 (3)| | ||
3.583|7|11|11|3q25.1|SELT|P|Selenoprotein T||607912|REc|||| | ||
3.584|7|17|12|3q25.1|WWTR1, TAZ|P|WW domain-containing transcription regulator 1||607392|R|||| | ||
3.585|11|2|04|3q24|ZIC4|C|Zinc finger protein of cerebellum, 4||608948|R, D|||| | |9(Zic4)|
3.586|11|2|04|3q24|ZIC1|C|Zic family member-1||600470|A, D|||| | |9(Zic1)|
3.587|9|15|11|3q25.1|P2RY12, P2Y12, BDPLT8|P|Purinergic receptor P2Y, G protein-coupled, 12||600515|R|||Bleeding disorder, platelet-type, 8, 609821 (3)| | ||
3.588|9|9|08|3q25.31-q25.32|VEPH1, MELT, KIAA1692|P|Ventricular zone-expressed PH domain-containing protein, zebrafish,|homolog of, 1|609594|R, REc|||| | ||
3.589|11|28|01|3q25.1|GPR91|P|G protein-coupled receptor 91||606381|REc|||| | ||
3.590|12|15|10|3q24|GYG1, GSD15|P|Glycogenin 1||603942|A|||Glycogen storage disease XV, 613507 (3)| | ||
3.591|3|8|07|3q24-q26|HDLCQ5|P|High density lipoprotein cholesterol level QTL 5||610761|Fd|max lod at D3S3053||[High density lipoprotein cholesterol level QTL 5] (2)| | ||
3.592|8|30|07|3q25.33|IFT80, KIAA1374, WDR56, ATD2|C|Intraflagellar transport 80, Chlamydomonas, homolog of||611177|R, REn|||Asphyxiating thoracic dystrophy 2, 611263 (3)| | ||
3.593|1|30|02|3q24-q26|UVM1|P|Melanoma, uveal, susceptibility to, 1||606660|Ch|||{Melanoma, uveal, susceptibility to, 1} (2)| | ||
3.594|2|3|13|3q26.1|B3GALT3, GLCT3, GLOB|P|UDP-galactose:beta-N-acetylglucosamine|beta-1,3-galactosyltransferase 3|603094|REc|||[Blood group, globoside system], 615021 (3); [Blood group, P1PK|system, P(k) phenotype], 111400 (3) | ||
3.595|2|6|08|3q25.32|IQCJ|P|IQ motif-containing protein J||611622|REc|||| | ||
3.596|12|27|01|3q25.1-q25.2|MBNL1, KIAA0428, EXP|P|Muscleblind-like protein||606516|R, REc|||| | ||
3.597|6|23|98|3q25.2|P2RY1, P2Y1|C|Purinergic receptor P2Y, G-protein coupled, 1||601167|Psh, REc|||| | ||
3.598|5|5|98|3q25.32|PTX3|C|Pentraxin-3||602492|REa, A|||| | ||
3.599|5|28|98|3q25.1|SIAH2|P|Seven in absentia, Drosophila, homolog of, 2||602213|A|||| | ||
3.600|8|30|09|3q25.1|TM4SF4, ILTMP|P|Transmembrane 4 superfamily, member 4||606567|R, REc|||| | ||
3.601|5|28|08|3q25-q26|CELIAC10|P|Celiac disease, susceptibility to, 10||612008|Fd|associated with rs17810546||{Celiac disease, susceptibility to, 10} (2)| | ||
3.602|8|12|98|3q25.32|SHOX2, SHOT, OG12|P|Short stature homeo box 2||602504|A, R|||| | |3(Og12)|
3.603|2|3|06|3q26.1|SI|C|Sucrase-isomaltase||609845|REa, A, Fd|||Sucrase-isomaltase deficiency, congenital, 222900 (3)| | |3(Sis)|
3.604|8|18|04|3q23|XRN1, SEP1|P|Exoribonuclease 1||607994|R|||| | ||
3.605|6|7|04|3q25-q27|ASPG1|P|Asperger syndrome, susceptibility to, 1||608638|Fd|max lod with D3S3037||{Asperger syndrome susceptibility 1} (2)| | ||
3.606|5|16|07|3q25-q27|AUTS8|P|Autism, susceptibility to, 8||607373|Fd|||{Autism susceptibility 8} (2)| | ||
3.607|8|27|01|3q26.2|EIF5A2|P|Eukaryotic translation initiation factor 5A2||605782|R|||| | ||
3.608|5|31|05|3q27.1|MCCC1, MCCA|C|3-Methylcrotonyl-CoA carboxylase 1||609010|R, A|||3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)| | ||
3.609|8|26|04|3q26.2|PRKCI|P|Protein kinase C, iota||600539|H, REc|pseudogene on X||| | |3(Prkci)|
3.610|3|19|09|3q25.1|EIF2A|P|Eukaryotic translation initiation factor 2A||609234|REc|||| | ||
3.611|8|29|96|3q25.32|MLF1|P|Myeloid leukemia factor-1||601402|Ch|||Leukemia, acute myeloid, 601626 (1)| | ||
3.612|8|19|13|3q25.1|P2RY14, BPR105, KIAA0001|C|Purinergic receptor P2Y, G protein-coupled, 14||610116|Psh, REn|||| | ||
3.613|2|20|97|3q25.1|PFN2, PFL, D3S1319E|P|Profilin-2||176590|REc|mapped previously to chr.1||| | ||
3.614|11|16|98|3q24|SMARCA3, SNF2L3, HIP116|P|SWI/SNF related, matrix associated, actin dependent regulator of|chromatin, subfamily a, member 3|603257|Psh, A|||| | ||
3.615|4|30|09|3q25.2|DHX36, G4R1, RHAU, KIAA1488|P|DEAH (Asp-Glu-Ala-His) box polypeptide 36||612767|REc|||| | ||
3.616|8|8|13|3q25.2|RAP2B|P|Ras-related protein 2B||179541|R, REc|||| | ||
3.617|8|16|10|3q25.3|BWQTL2|P|Birth weight quantitative trait locus 2||613459|Fd|associated wtih rs900400||[Birth weight QTL 2] (2)| | ||
3.618|4|7|05|3q25.32|LXN, ECI, TCI|P|Latexin||609305|R, REc|||| | |3(Lxn)|
3.619|8|30|09|3q25.32|RARRES1, TIG1|P|Retinoic acid receptor responder 1||605090|R, REc|||| | ||
3.620|5|5|10|3q25.31|CCNL1, ANIA6A|P|Cyclin L1||613384|REc|||| | ||
3.621|7|9|09|3q25.31|PLCH1, PLCL3, KIAA1069|P|Phospholipase C, eta-1||612835|REc|||| | ||
3.622|4|27|12|3q25.31|SLC33A1, ACATN, AT1, SPG42, CCHLND|C|Solute carrier family 33 (acetyl-CoA transporter), member 1||603690|A, R, REc|||Spastic paraplegia 42, autosomal dominant, 612539 (3);|Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3) | |3(Acatn)|
3.623|6|13|12|3q25.31|SSR3, TRAPG|p|Signal sequence receptor, gamma||606213|R, REc|||| | ||
3.624|12|17|08|3q25.31|TIPARP|P|TCDD-inducible poly(ADP-ribose) polymerase||612480|REc|||| | ||
3.625|10|15|13|3q25.32|GFM1, EFG1, GFM, COXPD1|C|Mitochondrial elongation factor G1||606639|R, M, Fd, REc|||Combined oxidative phosphorylation deficiency 1, 609060 (3)| | ||
3.626|6|7|10|3q25.32|RSRC1, SRRP53|P|Arginine/serine-rich coiled-coil protein 1||613352|REc|||| | ||
3.627|1|30|12|3q25.33|ARL14, ARF7|P|ADP-ribosylation factor-like 14||614439|REc|||| | ||
3.628|7|9|07|3q21.3|ACAD9|C|Acyl-CoA dehydrogenase family, member 9||611103|REc|||ACAD9 deficiency, 611126 (3)| | ||
3.629|5|15|08|3q26|AFA1, MPB|P|Alopecia, androgenetic, 1||109200|Fd|||Alopecia, androgenetic, 1 (2)| | ||
3.630|10|9|09|3q27.1|CLCN2, EGMA, ECA2, EGI11, EJM8|C|Chloride channel-2||600570|Psh|||{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3);|{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3); {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3)| ||
3.631|3|20|08|3q26.31|FNDC3B, FAD104|P|Fibronectin domain III-containing protein 3B||611909|REc|||| | |3(Fndc3b)|
3.632|10|9|94|3q26|MDS1|P|Myelodysplasia syndrome-1||600049|Ch, REc, A|cen--EVI1--MDS1--EAP--tel||Myelodysplasia syndrome-1 (3)| | ||
3.633|4|17|13|3q26.2|MECOM, EVI1|C|MDS1 and EVS1 complex locus||165215|A, Ch, REc|||3q21q26 syndrome (1)| | |3(Evi1)|
3.634|4|13|05|3q26|MYP8|P|Myopia 8||609257|Fd|||Myopia 8 (2)| | ||
3.635|8|3|12|3q28|OSTN|P|Osteocrin||610280|REc, H|||| | |16(Ostn)|
3.636|3|14|06|3q26.31|PLD1|C|Phospholipase D1, phosphatidylcholine-specific||602382|REa, A|||| | |3(Pld1)|
3.637|10|7|99|3q26.1|SERPINI1, PI12|P|Protease inhibitor 12||602445|A|||Encephalopathy, familial, with neuroserpin inclusion bodies, 604218|(3) | ||
3.638|12|28|08|3q26.1|SLITRK3, KIAA0848|C|SLIT- and NTRK-like family, member 3||609679|R, REc, H|||| | |3(Slitrk3)|
3.639|6|16|99|3q26.31|TNFSF10, TRAIL, APO2L|P|Tumor necrosis factor ligand superfamily, member 10||603598|A|||| | ||
3.640|1|24|01|3q25.33|CAPC|P|Chromosome-associated protein C||605575|A|||| | ||
3.641|11|4|98|3q25.31|KCNAB1, KCNA1B|C|Potassium voltage-gated channel, shaker-related subfamily, beta member|1|601141|Psh, A, REc|||| | |3(Kcna1b)|
3.642|2|1|11|3q25.33|KPNA4, QIP1|P|Karyopherin alpha-4||602970|REc|||| | ||
3.643|8|20|07|3q26.1|NMD3|P|NMD3, S. cerevisiae, homolog of||611021|R, REc|||| | ||
3.644|1|25|05|3q26.1|PDCD10, TFAR15, CCM3|P|Programmed cell death 10||609118|REc, Fd|||Cerebral cavernous malformations 3, 603285 (3)| | ||
3.645|4|8|08|3q25.3-q26.1|PPM1L, PP2CE|P|Protein phosphatase 1-like||611931|REc|||| | ||
3.646|9|7|12|3q26.1|SPTSSB, C3orf57, SSSPTB, ADMP|C|Serine palmitoyltransferase, small subunit B||610412|REc, R|||| | ||
3.647|8|8|91|3q26.1|BCHE, CHE1|C|Butyrylcholinesterase||177400|F, D, A|distal to CP, TF||Apnea, postanesthetic (3)| | ||
3.648|6|13|95|3q26.31|ECT2|P|Epithelial cell transforming sequence 2 oncogene||600586|A, Psh|||| | |3(Ect2)|
3.649|2|5|01|3q26.1|SERPIN12, PI14, MEPI|C|Protease inhibitor 14||605587|REn, A|||| | ||
3.650|8|7|01|3q26.1-q26.3|MNG3|P|Multinodular goiter-3||606082|Fd|||Goiter, multinodular, 3 (2)| | ||
3.651|12|5|13|3q26.2|SLC2A2, GLUT2|C|Solute carrier family 2 (facilitated glucose transporter), member 2||138160|REa, A, Fd|||{Diabetes mellitus, noninsulin-dependent}, 135853 (3); Fanconi-Bickel|syndrome, 227810 (3) | ||
3.652|7|11|11|3q26.2|ARPM1|P|Actin-related protein M1||608534|REc|||| | ||
3.653|8|28|09|3q26.2|GOLIM4, GOLPH4, GPP130|P|Golgi integral membrane protein 4||606805|R, REc|||| | ||
3.654|9|12|13|3q26.2|MYNN|P|Myoneurin||606042|REc|||| | ||
3.655|2|2|11|3q26.2|SEC62, TLOC1, HTP1|P|Sec62, S. cerevisiae, homolog of||602173|REc|||| | ||
3.656|5|29|13|3q26.2|SKIL, SNO|P|SKI-like||165340|REc|||| | ||
3.657|7|22|13|3q26.2|TRNAV24|P|Transfer RNA valine 24||615310|REc|||| | ||
3.658|1|26|01|3q26.2|CLDN11, OTM, OSP|P|Claudin 11 (oligodendrocyte transmembrane protein)||601326|REa, A|||| | ||
3.659|6|16|99|3q26.33|USP13, ISOT3|C|Ubiquitin-specific protease-13||603591|R, Psh, REc|||| | ||
3.660|3|24|06|3q26.2-q26.3|TNIK, KIAA0551|P|TRAF2-and NCK-interacting kinase||610005|R, REc|||| | ||
3.661|11|26|12|3q26.2-q26.31|APMR2|P|Alopecia-mental retardation syndrome 2||610422|Fd|between D3S1564 and D3S2427||Alopecia-mental retardation syndrome 2 (2)| | ||
3.662|3|19|09|3q26.2-q26.33|FEB10|P|Febrile seizures, familial, 10||612637|Fd|between D3S3656 and D3S1232||Febrile seizures, familial, 10 (2)| | ||
3.663|8|21|07|3q26.33|PEX5L, PEX5R, PXR2B|P|Peroxisome biogenesis factor 5-like||611058|REc|||| | ||
3.664|11|1|13|3q27.2|TRA2B, SFRS10|P|Splicing factor, arginine/serine-rich, 10 (transformer 2,|drosophila, homolog of, beta)|602719|R|||| | ||
3.665|5|1|91|3q29|APOD|P|Apolipoprotein D||107740|REb, A|||| | |16(Apod)|
3.666|8|20|07|3q26.33|ACTL6A, BAF53, BAF53A|P|Actin-like 6A||604958|REc|||| | ||
3.667|3|15|11|3q26.33|CCDC39|P|Coiled-coil domain-containing protein 39||613798|REc|||Ciliary dyskinesia, primary, 14, 613807 (3)| | ||
3.668|4|21|10|3q26.3-q27.1|DCUN1D1, RP42|P|DCN1 domain-containing protein 1||605905|REc|previously mapped to 6q16||| | ||
3.669|7|3|06|3q26.33|DNAJC19, TIM14|P|DnaJ (Hsp40) homolog, subfamily C, member 19|(translocase of inner mitochondrial membrane 14, yeast, homolog of)|608977|R, REc|||3-methylglutaconic aciduria, type V, 610198 (3)| | ||
3.670|5|6|13|3q26.33|GNB4, CMTD1F|P|Guanine nucleotide-binding protein, beta-4||610863|R, REc|||Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)| | ||
3.671|5|19|06|3q26.31|GHSR|P|Growth hormone secretagogue receptor||601898|REc|||Short stature, 604271 (3)| | ||
3.672|3|5|08|3q26.33|MRPL47|P|Mitochondrial ribosomal protein L47||611852|R, REc|||| | ||
3.673|8|19|04|3q26.31|NAALADL2|P|N-acetylated alpha-linked acidic dipeptidase-like 2||608806|Ch, REc|?involved in Cornelia de Lange syndrome||| | ||
3.674|2|21|10|3q26.31|NCEH1, NCEH, KIAA1363|P|Neutral cholesterol ester hydrolase 1||613234|REc|||| | ||
3.675|8|28|09|3q26.31|NLGN1|P|Neuroligin 1||600568|R, REc|||| | ||
3.676|11|29|12|3q26.32|PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5|P|Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide||171834|REa, A|||Ovarian cancer, somatic, 167000 (3); Breast cancer, somatic, 114480|(3); Colorectal cancer, somatic, 114500 (3); Gastric cancer, somatic, 613659 (3); Hepatocellular carcinoma, somatic, 114550 (3); Nonsmall cell lung cancer, somatic, 211980 (3); Keratosis, seborrheic, somatic, 182000 (3); Nevus,|epidermal, somatic, 162900 (3); CLOVE syndrome, somatic, 612918 (3); Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3); Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic, 603387 (3); Cowden syndrome 5, 615108 (3)||
3.677|11|3|11|3q26.31|SPATA16, SPGF6|C|Spermatogenesis-associated protein 16||609856|R, REc, Fd|||Spermatogenic failure 6, 102530 (3)| | ||
3.678|4|30|01|3q27.1|DCLAMP|P|Lysosome-associated membrane glycoprotein, dendritic cell-specific||605883|A|||| | ||
3.679|1|22|07|3q26.33|SOX2, MCOPS3|C|SRY (sex determining region Y)-box 2||184429|A, D|||Microphthalmia, syndromic 3, 206900 (3); Optic nerve hypoplasia|and abnormalities of the central nervous system, 206900 (3) | ||
3.680|3|9|12|3q27.1|THPO, MGDF, MPLLG, TPO, THCYT1|C|Thrombopoietin (megakaryocyte growth and development factor)||600044|A|||Thrombocythemia 1, 187950 (3)| | |16(Thpo)|
3.681|11|13|01|3q26.32|WIG1|P|Wildtype p53-induced gene||606452|A|||| | ||
3.682|1|29|01|3q26.32|KCNMB3|C|Potassium large conductance calcium-activated channel, subfamily M,|beta member 3|605222|A, Psh, R|||| | ||
3.683|11|26|12|3q26.3-q27.3|APMR1|P|Alopecia-mental retardation syndrome 1||203650|Fd|max lod at D3S3583||Alopecia-mental retardation syndrome 1 (2)| | ||
3.684|5|24|13|3q29|ATP13A3, AFURS1|P|ATPase, type 13A3||610232|REc|||| | ||
3.685|1|11|13|3q26.32|TBL1XR1, TBLR1, IRA1, C21|P|Transducin-beta-like 1 receptor 1||608628|REc, R|||| | ||
3.686|3|27|13|3q26.32-q28|FAME4, FCMTE4|P|Epilepsy, familial adult myoclonic, 4||615127|Fd|between D3S3730 and D3S1580||Epilepsy, familial adult myoclonic, 4 (2)| | ||
3.687|9|20|00|3q27.1|ABCC5, MRP5, MOATC|C|ATP-binding cassette, subfamily C, member 5||605251|R, A|||| | ||
3.688|2|17|09|3q27.3|ADIPOQ, APM1, GBP28, ADIPQTL1|P|Adipocyte-, C1q-, and collagen domain-containing||605441|A, REc|||Adiponectin deficiency, 612556 (3)| | |16(Apm1)|
3.689|7|8|95|3q27.3|AHSG|C|Alpha-2HS-glycoprotein||138680|F, S, D, REa, A, REn|linked to TF, CHE1; ?order = cen-TF-CHE1-AHSG||| | ||
3.690|6|22|04|3q27.1|ALG3, NOT56L, CDGS4, CDG1D|P|Alg3, S. cerevisiae, homolog of||608750|R|||Congenital disorder of glycosylation, type Id, 601110 (3)| | ||
3.691|1|22|01|3q27|AOMS1, SYNX|P|Abdominal obesity-metabolic syndrome QTL1||605552|Fd|epistatic gene on 17p12||Abdominal obesity-metabolic syndrome (2)| | ||
3.692|8|28|09|3q26.33|ATP11B, ATPIR|C|ATPase, class VI, type 11B||605869|REc|||| | ||
3.693|4|3|01|3q27.3|BCL6|P|B-cell CLL/lymphoma-6||109565|Ch, A|||Lymphoma, B-cell (2)| | |16(Bcl6)|
3.694|6|16|99|3q27.1|CHRD|C|Chordin||603475|R, REc, REn|near THPO, CLCN2, EIF4G1||| | |16(Chrd)|
3.695|6|13|07|3q28|CLDN16, PCLN1, HOMG3|C|Claudin 16 (paracellin 1)||603959|Fd|||Hypomagnesemia 3, renal, 248250 (3)| | ||
3.696|8|6|13|3q27.3|CRYGS, CRYG8, CTRCT20|C|Crystallin, gamma S||123730|REa, Fd|||Cataract 20, multiple types, 116100 (3)| | ||
3.697|8|15|96|3q27.1|DVL3|C|Dishevelled 3 (homologous to Drosophila dsh)||601368|Psh, A|||| | ||
3.698|6|18|02|3q27.2|EHHADH, PBFE, LBFP|C|Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase||607037|A, REn|Order: cen-EHHADH-[KNG(HRG/AHSG)]-BCL6-tel||| | ||
3.699|10|29|03|3q27.1|EIF2B5, LVWM, CACH, CLE|C|Eukaryotic translation initiation factor 2B, subunit 5||603945|Fd,R|||Leukoencephalopathy with vanishing white matter, 603896 (3);|Ovarioleukodystrophy, 603896 (3) | ||
3.700|10|3|11|3q27.1|EIF4G1, EIF4G, PARK18|C|Eukaryotic translation initiation factor 4 gamma, 1||600495|Psh|amplified in squamous cell lung cancer||Parkinson disease 18, 614251 (3)| | ||
3.701|7|5|01|3q27.3|FETUB|P|Fetuin B||605954|REc|||| | ||
3.702|3|1|12|3q27.3|HRG, THPH11|C|Histidine-rich glycoprotein||142640|REa, A, Fd, REn|||Thrombophilia due to HRG deficiency, 613116 (3); Thrombophilia due|to elevated HRG, 613116 (1) | ||
3.703|7|3|06|3q27.1|HTR3C|P|5-hydroxytryptamine receptor 3C||610121|A, REn|||| | ||
3.704|7|3|06|3q27.1|HTR3D|P|5-hydroxytryptamine receptor 3, subunit D||610122|A, REn|||| | ||
3.705|7|3|06|3q27.1|HTR3E|P|5-hydroxytryptamine receptor 3, subunit E||610123|A, REn|||| | ||
3.706|10|28|08|3q27.3|KNG1, KNG|C|Kininogen 1||612358|Psh, A, REn|||[Kininogen deficiency], 228960 (3); [High molecular weight kininogen|deficiency], 228960 (3) | ||
3.707|11|30|06|3q27.1|MAPO6D1, SL21|P|MAP6 domain-containing protein 1||610593|REc|||| | ||
3.708|1|19|07|3q27.2|MAP3K13, LZK|C|Mitogen-activated protein kinase kinase kinase 13 (leucine|zipper-bearing kinase)|604915|R, REc|||| | ||
3.709|5|22|07|3q27.1|PARL|P|Presenilin-associated rhomboid-like protein||607858|R, REc|||| | ||
3.710|3|5|95|3q27.3|RFC4|P|Replication factor C4, 37kD (activator 1, 37kD)||102577|Psh, A|||| | ||
3.711|2|28|03|3q27.3|RPL39L|P|Ribosomal protein L39-like||607547|REc|||| | ||
3.712|7|1|05|3q27.3|RTP4|P|Receptor-transporting protein 4||609350|R, REc|||| | ||
3.713|1|19|07|3q27.2|SENP2, SMT3IP2, AXAM2, KIAA1331|P|Sentrin-specific protease family, member 2||608261|R, REc|||| | ||
3.714|9|22|08|3q28|TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8|C|Tumor protein p63 (tumor protein p73-like)||603273|A, R|||Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome|3, 604292 (3); Split-hand/foot malformation 4, 605289 (3); Hay-Wells syndrome, 106260 (3); ADULT syndrome, 103285 (3); Limb-mammary syndrome,|603543 (3); Rapp-Hodgkin syndrome, 129400 (3); Orofacial cleft 8, 129400 (3) |16(Trp63)|
3.715|6|16|99|3q27.2-q27.3|DGKG, DAGK3|P|Diacylglycerol kinase, gamma, 90-kD||601854|A|||| | ||
3.716|7|29|10|3q27.2|LIPH, LAH2, ARWH2|C|Lipase H||607365|REc|||Hypotrichosis, localized, autosomal recessive 2, 604379 (3);|Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3) | ||
3.717|5|4|12|3q27.3|MASP1, CRARF, 3MC1|P|Manan-binding lectin serine protease-1 (C4/C2 activating component of|Ra-reactive factor)|600521|A|||3MC syndrome 1, 257920 (3)| | |16(Crarf)|
3.718|9|7|00|3q27-q28|SPG14|P|Spastic paraplegia 14, autosomal recessive||605229|Fd|||Spastic paraplegia 14, autosomal recessive (2)| | ||
3.719|8|19|13|3q27.1|B3GNT5|P|Beta-1,3-N-acetylglucosaminyltransferase 5||615333|REc|||| | ||
3.720|1|28|08|3q27.1|CAMK2N2, CAMKIIN|P|Ccium/calmodulin-dependent protein kinase II inhibitor 2||608721|R, REc|||| | ||
3.721|5|24|13|3q27.1|KLHL24, KRIP6|P|Kelch-like 24||611295|REc|||| | ||
3.722|8|28|09|3q27.1|MIR1224, MIRN1224|P|Micro RNA 1224||611620|REc|||| | ||
3.723|8|28|09|3q27.1|PSMD2, S2, TRAP2|P|Proteasome 26S subunit, non-APTase, 2||606223|R, REc|||| | ||
3.724|4|26|10|3q27.1|YEATS2, KIAA1197|P|YEATS domain-containing protein 2||613373|REc|||| | ||
3.725|9|7|11|3q27.1|KLHL6, FLJ00029|P|Kelch-like 6||614214|REc|||| | ||
3.726|5|3|11|3q27.3|SNORA63, RNU107, RNE3|P|Small nucleolar RNA, H/ACA box, 63||180647|REc|||| | ||
3.727|9|28|00|3q27.1|AP2M1, CLAPM1|P|Adaptor-related protein complex 2, mu 1 subunit||601024|REa, A|||| | ||
3.728|5|31|07|3q28|CCDC50, C3orf6, DFNA44|C|Coiled-coil domain-containing protein 50||611051|Fd, REc|||Deafness, autosomal dominant 44, 607453 (3)| | ||
3.729|5|28|08|3q28|CELIAC11|P|Celiac disease, susceptibility to, 11||612009|Fd|associated with rs1464510||{Celiac disease, susceptibility to, 11} (2)| | ||
3.730|8|28|09|3q27.3|EIF4A2|P|Eukaryotic translation initiation factor-4A, isoform 2||601102|R, REc|previously 18p11.2 by FISH||| | |16(Eif4a2)|
3.731|1|26|97|3q27.2|ETV5, ERM|C|ets variant gene 5 (ets-related molecule)||601600|A|||| | ||
3.732|2|24|97|3q28-q29|FGF12, FHF1|C|Fibroblast growth factor-12||601513|REa, H, A|||| | |16(Fhf1)|
3.733|5|4|99|3q26.33|FXR1|P|Fragile X mental retardation, autosomal homolog||600819|REa, A|pseudogene on 12q12||| | ||
3.734|1|30|12|3q28|GMNC, GEMC1|P|Geminin coiled-coil domain-containing protein||614448|REc|||| | ||
3.735|8|6|07|3q27.2|IGF2BP2, IMP2|C|Insulin-like growth factor 2 mRNA-binding protein 2||608289|R, Fd|||{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853|(3) | ||
3.736|11|4|98|3q28|IL1RAP|P|Interleukin 1 receptor accessory protein||602626|A, R|||| | ||
3.737|9|2|11|3q28|LNCR5|P|Lung cancer susceptibility 5||614210|Fd|associated with rs4488809||{Lung cancer susceptibility 5} (2)| | ||
3.738|10|1|95|3q27-q28|LPP|P|Lipoma-preferred-partner gene||600700|Ch, RE|fused with HMGIC in lipoma; fused with MLL in leukemia||Lipoma (3); Leukemia, acute myeloid, 601626 (3)| | ||
3.739|3|23|09|3q28|MIR28, MIRN28|P|Micro RNA 28||612154|REc|||| | ||
3.740|6|19|01|3q27.1|POLR2H, RPB8|P|Polymerase II, RNA, subunit H||606023|R|||| | ||
3.741|10|23|87|3q27.3|SST|C|Somatostatin||182450|REa|||| | |16(Smst)|
3.742|8|27|12|3q28|TMEM207|P|Transmembrane protein 207||614786|REc|||| | ||
3.743|7|19|06|3q28|CLDN1, SEMP1, ILVASC|C|Claudin 1||603718|REa, R, Fd|||Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis,|607626 (3) | ||
3.744|1|10|02|3q29|HRASLS|P|HRAS-like suppressor||606487|A|||| | ||
3.745|1|7|03|3q29|HES1, HRY|P|Hairy and enhancer of split, Drosophila, homolog of||139605|A|||| | ||
3.746|7|2|13|3q29|OPA1, NTG, NPG|C|Optic atrophy 1 gene||605290|Fd, REc|||Optic atrophy 1, 165500 (3); {Glaucoma, normal tension,|susceptibility to}, 606657 (3); Optic atrophy plus syndrome, 125250 (3) | |?16(Bst)|
3.747|1|24|13|3q29|BDH1, BDH|P|3-hydroxybutyrate dehydrogenase 1||603063|REc|||| | ||
3.748|8|28|09|3q29|CENTB2, KIAA0041, ACAP2|P|Centaurin, beta-2||607766|Psh, REc|||| | ||
3.749|1|6|14|3q29|CEP19, C3orf34|P|Centrosomal protein, 19kD||615586|REc|||| | ||
3.750|8|22|05|3q29|CPN2|P|Carboxypeptidase N, polypeptide 2, 83-KD||603104|A, H, Ch|conflicting assignment to chr.8||| | |16(Cpn2)|
3.751|6|22|05|3q29|DLG1|C|Discs, large, Drosophila, homolog of, 1||601014|REc|deleted in 3q29 microdeletion syndrome||| | |16(Dlgh1)|
3.752|9|9|08|3q29|FBXO45, FBX45|P|F-box only protein 45||609112|REc|||| | |16(Fbxo45)|
3.753|8|8|13|3q29|GP5|P|Glycoprotein V, platelet||173511|A|||| | ||
3.754|12|17|08|3q29|IQCG|P|IQ motif-containing protein G||612477|REc|||| | ||
3.755|2|22|07|3q29|LSG1|P|Large subunit GTPase 1, S. cerevisiae, homolog of||610780|R, REc|||| | ||
3.756|10|23|87|3q29|MFI2, MAP97|P|Melanoma-associated antigen p97||155750|S, A|||| | ||
3.757|4|15|08|3q29|DEL3q29, MICRODEL3q29|P|Chromosome 3q29 microdeletion syndrome||609425|Ch|contiguous gene deletion syndrome||Chromosome 3q29 microdeletion syndrome (4)| | ||
3.758|5|24|13|3q29|MUC20|P|Mucin 20, cell surface-associated||610360|REc|||| | ||
3.759|4|15|08|3q29|DUP3q29, MICRODUP3q29|P|Chromosome 3q29 microduplication syndrome||611936|Ch|contiguous gene duplication syndrome||Chromosome 3q29 microduplication syndrome (4)| | ||
3.760|10|18|11|3q28|LEPREL1, P3H2, MCVD|P|Leprecan-like 1||610341|REc, H|||Myopia, high, with cataract and vitreoretinal degeneration, 614292|(3) | |16(Leprel1)|
3.761|3|30|12|3q29|MIR570|P|Micro RNA 570||614538|REc|||| | ||
3.762|8|8|91|3q29|MUC4|P|Mucin 4, tracheobronchial||158372|REa, A|||| | ||
3.763|7|22|13|3q29|NRROS, LRRC33|P|Negative regulator of oxygen species||615322|REc|||| | ||
3.764|6|25|08|3q29|OSTA|P|Organic solute transporter, alpha||612084|REc|||| | |16(Osta)|
3.765|6|22|05|3q29|PAK2, PAK65|P|p21-activated kinase 2||605022|REc|deleted in 3q29 microdeletion syndrome||| | ||
3.766|9|9|10|3q29|PIGX|P|Phosphatidylinositol glycan, class X||610276|REc|||| | ||
3.767|12|17|07|3q29|PIGZ, SMP3|P|Phosphatidylinositol glycan, class Z||611671|REc|||| | ||
3.768|5|8|97|3q29|PPP1R2, IPP2|P|Protein phosphatase-1, regulatory (inhibitor) subunit 2||601792|A|pseudogenes on chr. 5 and 6||| | ||
3.769|4|1|09|3q29|RNF168|P|RING finger protein 168||612688|REc|||RIDDLE syndrome, 611943 (3)| | ||
3.770|7|9|09|3q29|SENP5|P|Sentrin-specific protease family, member 5||612845|REc|||| | ||
3.771|10|23|87|3q29|TFRC, TFR, CD71|C|Transferrin receptor||190010|S, H, REa, A, R, F|||| | |16(Trfr)|
3.772|8|28|09|3q29|TNK2, ACK, ACK1|P|Tyrosine kinase, non-receptor, 2||606994|R, REc|||| | ||
3.773|3|14|13|3q29|WDR53|P|WD repeat-containing protein 53||615110|REc|||| | ||
3.774|4|2|12|3q29|XXYLT1, C3orf21|P|Xyloside xylosyltransferase 1||614552|REc|||| | ||
3.775|5|28|98|3p21.2|RPL29, HIP|P|Ribosomal protein L29||601832|Psh, R, A|||| | |9(Rpl29)|
3.776|1|13|09|3q29|RPL35A, DBA5|P|Ribosomal protein L35A||180468|REa, A|previous assignment to chr.18 in error||Diamond-Blackfan anemia 5, 612528 (3)| | ||
4.1|1|7|02|4p16.3|ADD1|C|Adducin-1, alpha||102680|REa, REb|||{Hypertension, essential, salt-sensitive}, 145500 (3)| | |5(Add1)|
4.2|9|8|11|4p16.3|ATP5I, ATP5K|P|ATP synthase, H+ transporting, mitochondrial FO complex, subunit E||601519|REc|||| | |5(Atp5k)|
4.3|7|20|12|4p16.3|C4orf48|P|chromosome 4 open reading frame 48||614690|REc|||| | ||
4.4|8|17|09|4p16.3|CPLX1, CPX1|P|Complexin 1||605032|REc|||| | ||
4.5|12|10|13|4p16.3|CRIPAK, FLJ3443|P|Cysteine-rich inhibitor of PAK1||610203|REc|||| | ||
4.6|3|25|03|4p16.3|D4S234E, D4S234|P|D4S234E gene||607645|REc|||| | ||
4.7|10|15|98|4p16.3|DGKQ, DAGK4|P|Diacylglycerol kinase, theta, 110kD||601207|REc, H|||| | |5(Dagk4)|
4.8|10|11|06|4p16.3|FGFR3, ACH|C|Fibroblast growth factor receptor-3||134934|REn, Fd|||Achondroplasia, 100800 (3); Hypochondroplasia, 146000 (3); Thanatophoric dysplasia, type I, 187600 (3);|Crouzon syndrome with acanthosis nigricans, 612247 (3); Muenke syndrome, 602849 (3); Bladder cancer, somatic,|109800 (3); Colorectal cancer, somatic, 114500 (3); Cervical cancer, somatic, 603956 (3); LADD syndrome, 149730 (3); CATSHL syndrome, 610474 (3); Nevus, epidermal, somatic, 162900 (3); Thanatophoric dysplasia, type II, 187601 (3); Spermatocytic seminoma, somatic, 273300 (3) |5(Fgfr3)|
4.9|5|29|12|4p16.3|GRK4, GPRK2L, GPRK4|P|G protein-coupled receptor kinase 4||137026|RE, H|||| | |5(Gprk2l)|
4.10|11|1|10|4p16.3|HAUS3, DGT3, C4orf15|P|HAUS augimn-like complex, subunit 3||613430|REc|||| | ||
4.11|9|17|09|4p16.3|HTT, HD, IT15|C|Huntingtin||613004|Fd|distal to D4S10||Huntington disease, 143100 (3)| | |5(Hdh)|
4.12|10|29|03|4p16.3|IDUA, IDA|P|Iduronidase, alpha-L-||252800|REa, A, S|||Mucopolysaccharidosis Ih, 607014 (3); Mucopolysaccharidosis Is,|607016 (3); Mucopolysaccharidosis Ih/s, 607015 (3) | |5(Idua)|
4.13|2|1|00|4p16.3|LETM1|P|Leucine zipper/EF-hand-containing transmembrane protein 1||604407|A|||| | ||
4.14|9|30|13|4p16.3|LRPAP1, A2MRAP, MYP23|C|Low density lipoprotein-related protein-associated protein 1|(alpha-2-macroglobulin receptor-associated protein 1)|104225|A, REn|||Myopia 23, autosomal recessive, 615431 (3)| | ||
4.15|8|30|09|4p16.3|MAEA, EMP|P|Macrophage erythroblast attacher||606801|R, REc|||| | ||
4.16|11|30|11|4p16.3|MDCMP|P|Muscular dystrophy, congenital, merosin-positive||609456|Fd|max lod at D4S432||Muscular dystrophy, congenital, merosin-positive (2)| | ||
4.17|3|22|93|4p16.3|MYL5|P|Myosin, light polypeptide-5, regulatory||160782|RE|||| | ||
4.18|7|1|11|4p16.3|NAT8L, CML3, NACED|P|N-acetyltransferase 8-like||610647|REc|||N-acetylaspartate deficiency, 614063 (3)| | ||
4.19|7|13|09|4p16.3|NOP14, NOL14, NOP14, RES425|P|Nop14, S. cerevisiae, homolog of||611526|REc|||| | ||
4.20|12|22|09|4p16.3|PDE6B, PDEB, RP40, CSNBAD2|C|Phosphodiesterase-6B, cGMP-specific, rod, beta||180072|REa, A, Fd|||Night blindness, congenital stationary, autosomal dominant 2, 163500|(3); Retinitis pigmentosa-40, 613801 (3) | |5(Pdeb, rd)|
4.21|11|20|98|4p16.3|RNF4|P|RING finger protein-4||602850|REn|||| | ||
4.22|6|9|08|4p16.3|RNF212, ZHP3|P|Ring finger protein 212||612041|REn|||Recombination rate QTL 1, 612042 (3)| | ||
4.23|5|30|01|4p16.3|SH3BP2, CRPM|C|SH3-domain binding protein 2||602104|REn, Fd|||Cherubism, 118400 (3)| | ||
4.24|3|27|01|4p16.3|SLBP, HBP|P|Histone stem-loop binding protein||602422|REc|||| | ||
4.25|8|19|13|4p16.3|SLC25A1, SAT1|P|Solute carrier family 26 (sulfate transporter), member 1||610130|R|||| | ||
4.26|5|11|01|4p16.3|SPON2|P|Spondin 2||605918|R|||| | ||
4.27|6|18|10|4p16.3|TACC3|P|Transforming, acidic, coiled-coil-containing protein 3||605303|Psh, R|||{?Bladder cancer susceptibility}, 109800 (2)| | |5(Tacc3)|
4.28|5|22|07|4p16.3|TETRAN, TPO1|P|Tetracycline transporter-like protein||610977|REc|||| | ||
4.29|12|29|06|4p16.3|TNIP2, ABIN2, FLIP1|P|TNFAIP3-interacting protein 2||610669|R, REc|||| | ||
4.30|5|26|12|4p16.3|UVSSA, KIAA1530, UVSS3|C|UV-stimulated scaffold protein A||614632|R, REc|||UV-sensitive syndrome 3, 614640 (3)| | ||
4.31|6|10|10|4p16.3|WHS|C|Wolf-Hirschhorn syndrome||194190|Ch|contiguous gene syndrome; critical region 200kb region 1.9Mb from|telomere|Wolf-Hirschhorn syndrome (4)| | ||
4.32|6|10|10|4p16.3|WHSC1|P|WHS candidate 1 gene||602952|REc, Ch|||| | ||
4.33|6|10|10|4p16.3|WHSC2|P|WHS candidate 2 gene||606026|REc|||| | ||
4.34|5|13|13|4p16.3|ZNF141, D4S90, PAPA6|P|Zinc finger protein-141 (clone pHZ-44)||194648|Psh, A, Ch|1 family identified with mutation||?Polydactyly, postaxial, type A6, 615226 (3)| | ||
4.35|1|18|12|4p16.2|CYTL1, C17|P|Cytokine-like protein 1||607930|R, REc|||| | ||
4.36|7|16|09|4p16.3|DOK7, C4orf25, CMS1B|C|Downstream of tyrosine kinase 7||610285|REc|||Myasthenia, limb-girdle, familial, 254300 (3); Fetal akinesia|deformation sequence, 208150 (3) | ||
4.37|5|23|13|4p16.1|JAKMIP1, JAMIP1, MARLIN1|P|Janus kinase and microtubule-interacting protein 1||611195|REc|||| | ||
4.38|4|17|07|4p16.3|POLN|P|Polymerase, DNA, nu||610887|REc, H|||| | |5(Poln)|
4.39|7|16|13|4p16.3|RGS12|P|Regulator of G protein signaling 12||602512|REc, H|||| | |5(Rgs12)|
4.40|2|23|09|4p16.3|ADRA2C, ADRA2L2|C|Adrenergic, alpha-2C-, receptor||104250|REa, Fd|linked to D4S10||{Congestive heart failure and beta-blocker response, modifier of} (3)| | ||
4.41|1|5|12|4p16.1|AFAP1, AFAP, AFAP110|P|Actin filament-associated protein 1||608252|REc|||| | ||
4.42|4|17|13|4p16.1|BLOC1S4, BLOS4, CNO|P|Biogenesis of lysosome-related organelles complex 1, subunit 4||605695|R, REc, H|||| | |5(cno)|
4.43|6|19|12|4p16.1|CPZ|P|Carboxypeptidase Z||603105|REc|||| | ||
4.44|8|30|09|4p16.1|GPR78|P|G protein-coupled receptor 78||606921|REc|||| | ||
4.45|6|27|08|4p16.1|HMX1, H6|P|Homeo box (H6 family) 1||142992|Psh, Fd|||Oculoauricular syndrome, 612109 (3)| | |5(Hmx1)|
4.46|1|16|07|4p16.1|HTRA3, PRSP|P|HTRA serine peptidase 3||608785|REc|||| | ||
4.47|12|17|12|4p16.2|MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3|C|Muscle segment homeo box, Drosophila, homolog of, 1|(homeo box 7)|142983|REa, A, D, Fd|||Tooth agenesis, selective, 1, with or without orofacial cleft, 106600|(3); Orofacial cleft 5, 608874 (3); Ectodermal dysplasia 3, Witkop type, 189500 (3)| |5(Hox7)|
4.48|4|13|10|4p15.33|NKX3-2, BAPX1, SMMD|C|Bagpipe homeo box, Drosophila, homolog of||602183|Fd|||Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)| | |5(Bapx1)|
4.49|8|30|09|4p16.1|SORCS2, KIAA1329|P|SORCS receptor 2||606284|R, REc|||| | ||
4.50|4|26|10|4p16.1|TADA2B, ADA2B|P|Transcriptional adaptor 2B||608790|REc|||| | ||
4.51|10|11|12|4p16.1|TBC1D14, KIAA1322|P|TBC1 domain family, member 14||614855|R, REc|||| | ||
4.52|6|13|02|4p16.1|USP17|P|Ubiquitin-specific protease 17||607011|A|||| | ||
4.53|10|25|11|4p16.1|WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL|C|Wolframin||606201|Fd|multiple mtDNA deletions||Wolfram syndrome, 222300 (3); Deafness, autosomal dominant 6/14/38,|600965 (3); Wolfram-like syndrome, autosomal dominant, 614296 (3); {Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)| ||
4.54|4|8|98|4p16.2|CRMP1, DPYSL1, DRP1|P|Collapsin response mediator protein-1||602462|REc|||| | ||
4.55|2|10|04|4p16.1|DRD5, DRD1B, DRD1L2|C|Dopamine receptor D5||126453|REa, A, REc, R, Psh, Fd|pseudogenes on 2p11 and 1q21||{Blepharospasm, primary benign}, 606798 (3); Dystonia, primary|cervical (3); {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)| |5(Drd5)|
4.56|1|24|09|4p16.1|ABLIM2, KIAA1808|P|Actin-binding LIM protein family, member 2||612544|REc, H|||| | |5(Ablim2)|
4.57|7|8|95|4p16|CRSA, CRS3|P|Craniosynostosis, Adelaide type||600593|Fd|||Craniosynostosis, Adelaide type (2)| | ||
4.58|11|4|98|4p16.3|CTBP1|P|C-terminal binding protein 1||602618|R|||| | ||
4.59|3|22|00|4p16.2|EVC|P|Ellis-van Creveld syndrome gene||604831|Fd|||Ellis-van Creveld syndrome, 225500 (3); Weyers acrodental dysostosis,|193530 (3) | ||
4.60|4|26|01|4p16.3|FGFRL1|P|Fibroblast growth factor receptor-like 1||605830|A|||| | ||
4.61|3|9|98|4p16.3|GAK|P|Cyclin G associated kinase||602052|A|||| | ||
4.62|3|11|09|4p16.1|GRPEL1, HMGE|P|GrpE, E. coli, homolog of||606173|REc|||| | ||
4.63|5|4|00|4p16.3|HGFAC, HGFA|P|Hepatocyte growth factor activator||604552|A, REa|||| | ||
4.64|5|7|03|4p15.32|KSP37|P|Killer-specific secretory protein, 37kD||607713|REc|||| | ||
4.65|3|3|03|4p16.2|LBN, EVC2|C|Limbin||607261|H, REc, Fd|||Ellis-van Creveld syndrome, 225500 (3)| | |5(Lbn)|
4.66|1|13|09|4p16|PLSA1, PLSA|P|Primary lateral sclerosis, adult, 1||611637|Fd|max lod at D4S2936||Primary lateral sclerosis, adult, 1 (2)| | ||
4.67|7|2|01|4p16.1|PPP2R2C, PR52|P|Protein phosphatase 2A, regulatory subunit B, gamma isoform||605997|R|||| | ||
4.68|7|8|95|4p16.1|S100P|P|S100 calcium-binding protein P||600614|A|||| | ||
4.69|9|6|11|4p16.3|ZFYVE28, LST2, KIAA1643|P|Zinc finger FYVE domain-containing protein 28||614176|R, REc|||| | ||
4.70|1|24|09|4p16.1|SLC2A9, GLUT9, UAQTL2|P|Solute carrier family 2 (facilitated glucose transporter), member 9||606142|Psh, R|||{Uric acid concentration, serum, QTL 2}, 612076 (3); Hypouricemia,|renal, 2, 612076 (3) | ||
4.71|12|21|00|4p16-p15.2|SLEB3|P|Systemic lupus erythematosus, susceptibility to, 3||605480|Fd|||{Systemic lupus erythematosus, susceptibility to, 3} (2)| | ||
4.72|2|26|08|4p16-p15|MNDEC|P|Microtia with nasolacrimal duct imperforation and eye coloboma||611863|REn|copy number variant (CNV) association||Microtia with nasolacrimal duct imperforation and eye coloboma (1)| | ||
4.73|4|27|12|4p16-p15|SPG38|P|Spastic paraplegia 38, autosomal dominant||612335|Fd|between D4S432 and D4S1599||Spastic paraplegia 38, autosomal dominant (2)| | ||
4.74|4|22|10|4p16-q34|INTLQ1|P|Intelligence quantitative trait locus 1||603783|Fd|associated with D4S2943, MSX1, and D4S1607||{Intelligence QTL1} (2)| | ||
4.75|8|30|09|4p15.32|FBXL5, FBL5|P|F-box and leucine-rich repeat protein 5||605655|R, REc|||| | ||
4.76|9|9|13|4p15.33|RAB28, CORD18|P|Ras-associated protein 28||612994|REc|||Cone-rod dystrophy 18, 615374 (3)| | ||
4.77|1|13|11|4p15.32|BST1|P|Bone marrow stromal cell antigen 1||600387|REc|previously assigned to 14q32.3||| | ||
4.78|5|24|13|4p15.32|MED28, EG1, MAGICIN|P|Mediator complex subunit 28||610311|REc|||| | ||
4.79|5|12|09|4p15.32|TAPT1, CMVFR|P|Transmembrane anterior posterior transformation 1||612758|REc|||| | |5(Tapt1)|
4.80|1|13|09|4p15.2|GBA3, CBGL1|C|Glucosidase, beta, acid 3||606619|R, REc|||| | ||
4.81|4|15|09|4p15.32|QDPR, DHPR|C|Quinoid dihydropteridine reductase||612676|S, A, REa, D|||Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)| | |5(Qdpr)|
4.82|2|28|07|4p15.2|SLC34A2|C|Solute carrier family 34 (sodium/phosphate cotransporter), member 2||604217|REc, Fd|||Pulmonary alveolar microlithiasis, 265100 (3); ?Testicular|microlithiasis, 610441 (3) | ||
4.83|1|12|99|4p16.1|ACOX3|P|Acyl-coenzyme A oxidase 3, pristanoyl||603402|A|||| | ||
4.84|7|8|10|4p15.32|CC2D2A, KIAA1345, MKS6|C|Coiled-coil and C2 domains-containing protein 2A||612013|REc|||Joubert syndrome 9, 612285 (3); Meckel syndrome 6, 612284 (3);|COACH syndrome, 216360 (3) | ||
4.85|4|30|09|4p15.2|DHX15, DDX15, DBP1, HRH2|P|DEAH (Asp-Glu-Ala-His) box polypeptide 15||603403|A|||| | ||
4.86|8|30|09|4p15.32|FGFBP1, FGFBP, HBP17|P|Fibroblast growth factor-binding protein 1||607737|R, REc|||| | ||
4.87|11|13|01|4p15.3|HDL3, HLN2|P|Huntington disease-like 3||604802|Fd|||Huntington disease-like 3 (2)| | ||
4.88|10|29|03|4p15.3-p15.2|KCNIP4, KCHIP4|P|Kv channel-interacting protein 4||608182|REc|||| | ||
4.89|8|30|09|4p15.31|NCAPG, CAPG|P|Non-SMC condensin I complex subunit G||606280|R, REc|||| | ||
4.90|2|17|09|4p15.31|LCORL, MLR1|C|Ligand-dependent nuclear receptor corepressor-like protein||611799|R, REc|||| | ||
4.91|3|23|09|4p15.32|PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4|C|Prominin 1||604365|Fd, REc|||Retinitis pigmentosa 41, 612095 (3); Cone-rod dystrophy 12, 612657|(3); Stargardt disease 4, 603786 (3); Macular dystrophy, retinal, 2, 608051 (3) | ||
4.92|2|17|09|4p15.3|STQTL13|P|Stature quantitative trait locus 13||612226|Fd|associated with rs16896068||{Stature QTL 13} (2)| | ||
4.93|12|1|03|4p15.2|SOD3|C|Superoxide dismutase-3, extracellular||185490|REa, R, Fd, A|||[Superoxide dismutase, elevated extracellular] (3)| | ||
4.94|8|30|09|4p15.2|ANAPC4, APC4|P|Anaphase-promoting complex, subunit 4||606947|R, REc|||| | ||
4.95|9|23|08|4p15.2|GPR125|P|G protein-coupled receptor 125||612303|REc|||| | ||
4.96|12|4|03|4p15.2|LGI2, KIAA1916|P|Leucine-rich gene, glioma-inactivated, 2||608301|REc|||| | ||
4.97|6|27|08|4p15.2|PI4K2B|P|Phosphatidylinositol 4-kinase, type 2, beta||612101|R, REc|||| | ||
4.98|9|10|12|4p15.2|RBPJ, RBPSUH, IGKJRB1, AOS3|P|Recombination signal-binding protein 1 for kappa J region||147183|REc|pseudogenes at 9q13, 9p13, and 3q25||Adams-Oliver syndrome 3, 614814 (3)| | |5(Rbpsuh)|
4.99|3|28|11|4p15.2|SEPSECS, SLA, LP, PCH2D|P|O-phosphoserine tRNA-selenocysteine tRNA synthase||613009|R, REc|||Pontocerebellar hypoplasia type 2D, 613811 (3)| | ||
4.100|2|2|01|4p15.31|SLIT2|P|Slit, Drosophila, homolog of, 2||603746|A|||| | ||
4.101|2|14|08|4p15.2|ZCCHC4|P|Zinc finger CCHC domain-containing protein 4||611792|R, REc|||| | ||
4.102|6|15|99|4p15.2|CCKAR|C|Cholecystokinin A receptor||118444|Psh, H, A|||| | |5(Cckar)|
4.103|3|27|09|4p15.2|PPARGC1A, PPARGC1|P|Peroxisome proliferator-activated receptor-gamma, coactivator 1, alpha||604517|R|||| | ||
4.104|3|12|07|4p15.2|STIM2, KIAA1482|P|Stromal interaction molecule 2||610841|REc, R, H|||| | |5(Stim2)|
4.105|3|1|01|4p14|UGDH, UDPGDH|P|UDP-glucose dehydrogenase||603370|H, R|||| | |5(Udgh)|
4.106|9|9|03|4p14|KLHL5|P|Kelch-like 5||608064|REc|||| | ||
4.107|4|23|08|4p15.1-q12|NPC1, NPCA1|P|Nasopharyngeal carcinoma 1||607107|Fd|?associated with acyl-CoA thioesterase 7-like||{Nasopharyngeal carcinoma 1} (2)| | ||
4.108|5|22|03|4p14|CHRNA9|P|Cholinergic receptor, neuronal nicotinic, alpha polypeptide 9||605116|A, R|||| | ||
4.109|3|20|06|4p14|TBC1D1, KIAA1108|P|TBC1 domain family, member 1||609850|REa, H|||| | |5(Tbc1d1)|
4.110|5|9|95|4p15.32|CD38|C|CD38 antigen (p45); ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase||107270|S, A|||| | ||
4.111|10|7|02|4p15|EPPS|P|Epilepsy, partial, with pericentral spikes||607221|Fd|||Epilepsy, partial, with pericentral spikes (2)| | ||
4.112|2|4|99|4p15.32|LDB2, CLIM1|C|LIM domain-binding factor-2||603450|R|||| | ||
4.113|10|26|11|4p16.1|METTL19|P|Methyltransferase-like 19||614309|REc|||| | ||
4.114|11|20|98|4p15.1|PCDH7, BHPCDH|P|Protocadherin-7||602988|Psh|||| | ||
4.115|10|08|08|4p15-p14|BMIQ7|P|Body mass index quantitative trait locus 7||608410|near D4S2912|||{Obesity, susceptibility to, BMIQ7} (2)| | ||
4.116|4|14|05|4p14-p13|APBB2, FE65L1|C|Amyloid beta A4 precursor protein-binding, family B, member 2|(Fe65-like 1)|602710|R, REc|||{Alzheimer disease, late-onset}, 104300 (3)| | ||
4.117|8|30|09|4p14|ARAP2, CENTD1, KIAA0580|P|ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2||606645|R, REc|||| | ||
4.118|11|20|98|4p14|HIP2|P|Huntingtin-interacting protein-2||602846|A|||| | ||
4.119|9|10|07|4p14|KLB, BKL|P|Klotho, beta||611135|REc|||| | ||
4.120|2|23|12|4p14|LIAS, PDHLD|P|Lipoic acid synthase||607031|REc|||Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3)| | ||
4.121|12|10|13|4p14|MIR574, MIR574-3p|P|Micro RNA 574||615469|REc|||| | ||
4.122|10|3|11|4p14|PDS5A, KIAA0648, SCC112|C|PDS5, regulator of cohesion maintenance, S. Cerevisiae, homolog of, A||613200|R, REc|||| | ||
4.123|5|26|13|4p14|RELL1|P|Relt-like 1||611212|R, REc|||| | ||
4.124|2|21|10|4p14|TLR1, TIL. LPRS5|P|Toll-like receptor-1||601194|A|||{Leprosy, protection against}, 613223 (3); {Leprosy, susceptibility|to, 5}, 613223 (3) | ||
4.125|8|30|09|4p14|TLR6|P|Toll-like receptor 6||605403|REc|||| | |5(Tlr6)|
4.126|12|27|13|4p13|UCHL1, PARK5, NDGOA|C|Ubiquitin C-terminal esterase L1||191342|A, Psh|mutation identified in 1 NDGOA family and 1 PARK5 family||?{Parkinson disease 5, susceptibility to}, 613643 (3);|?Neurodegeneration with optic atrophy, childhood onset, 615491 (3) | ||
4.127|1|9|13|4p14|UCH1LAS|P|Ubiquitin carboxyl-terminal esterase L1, antisense||614991|REn|||| | ||
4.128|3|5|95|4p14|RFC1, RECC1|C|Replication factor C1, 145kD (activator 1, 145kD)||102579|A|||| | |5(Rfc1)|
4.129|4|23|08|4p14|LOC344967|P|Acyl-CoA thioesterase 7-like||611963|REc|?associated with nasopharyngeal carcinoma||| | ||
4.130|12|19|11|4p14|WDR19, ATD5, NPHP13, CED4|P|WD repeat-containing protein 19||608151|R|||Asphyxiating thoracic dystrophy 5, 614376 (3); Nephronophthisis 13,|614377 (3); Cranioectodermal dysplasia 4, 614378 (3) | ||
4.131|5|16|95|4p12|GABRA4|P|Gamma-aminobutyric acid (GABA) A receptor, alpha-4||137141|Psh|cluster with GABRA2, B1, G1; ?involved in autism||| | |7(Gabra4)|
4.132|10|23|87|4p14|PGM2|C|Phosphoglucomutase-2||172000|S|||| | |5(Pgm1)|
4.133|1|30|91|4q21.21|BMP3|P|Bone morphogenetic protein-3||112263|H, REa|||| | |5(Bmp3)|
4.134|8|21|92|4p12|GABRG1|P|Gamma-aminobutyric acid (GABA) A receptor, gamma-1||137166|Psh, REl|||| | ||
4.135|3|5|98|4p14|ARHH, TTF|P|Ras homolog gene family, member H||602037|A|||| | ||
4.136|2|19|10|4p12|GNPDA2, GNP2|P|Glucosamine-6-phosphate deaminase 2||613222|REc|||| | ||
4.137|2|25|10|4p13|GRXCR1|P|Glutaredoxin, cysteine-rich, 1||613283|REc, H|||Deafness, autosomal recessive 25, 613285 (3)| | |5(Grxcr1)|
4.138|6|15|99|4p14|RPL9|P|Ribosomal protein L9||603686|Psh, A|pseudogene on Xpter-p21||| | ||
4.139|3|8|00|4p13|C4orf1, HUEL|P|Chromosome 4 open reading frame 1||604604|A|||| | ||
4.140|1|25|12|4p12|GABRA2|P|Gamma-aminobutyric acid (GABA) A receptor, alpha-2||137140|A|||{Alcohol dependence, susceptibility to}, 103780 (3)| | |5(Gabra2)|
4.141|7|11|93|4p12|GABRB1|P|Gamma-aminobutyric acid (GABA) A receptor, beta-1||137190|A, Fd|||| | |5(Gabrb1)|
4.142|1|6|09|4p13-q21|NRCLP2|P|Narcolepsy 2||605841|Fd|max lod at D4S2987||Narcolepsy 2 (2)| | ||
4.143|4|27|12|4p12|CORIN, CRN, TMPRSS10, ATC2, PEE5|P|Corin, serine peptidase||605236|A, REc|||Preeclampsia/eclampsia 5, 614595 (3)| | ||
4.144|4|21|10|4p12|COX7B2|P|Cytochrome C oxidase subunit VIIb2||609811|REc|||| | ||
4.145|2|14|11|4p13|PMX2B, NBPHOX, PHOX2B, NBLST2|P|Paired mesoderm homeo box 2B||603851|R|||Central hypoventilation syndrome, congenital, with or without|Hirschsprung disease, 209880 (3); {Neuroblastoma, susceptibility to, 2}, 613013 (3); Neuroblastoma with Hirschsprung disease, 613013 (3)| ||
4.146|10|22|99|4p14|PTTG2|P|Pituitary tumor-transforming gene 2||604231|R|||| | ||
4.147|12|13|95|4p12-p11|TEC|P|tec protein tyrosine kinase||600583|A|||| | ||
4.148|10|12|94|4p12|TXK, BTKL|C|TXK tyrosine kinase||600058|A|||| | |5(Txk)|
4.149|3|10|11|4p12|CNGA1, CNCG1, RP49|C|Cyclic nucleotide gated channel, alpha 1||123825|REa, Psh|||Retinitis pigmentosa 49, 613756 (3)| | |5(Cncg)|
4.150|8|31|09|4p11|ZAR1|P|Zygote arrest 1||607520|REc|||| | |5(Zar1)|
4.151|10|23|87|4p15.32|PEPS|C|Peptidase S||170250|S, EM|||| | |5(Pep7)|
4.152|6|16|99|4p|MHW1|P|Mental health wellness 1||603663|Fd|at D4S2949||{Mental health wellness-1} (2)| | ||
4.153|5|13|99|4p|STGD4|P|Stargardt disease 4||603786|Fd|||Stargardt disease 4 (2)| | ||
4.154|12|14|00|4p16.1|WDR1|P|WD repeat-containing protein 1||604734|R|||| | ||
4.155|6|16|99|4q|MHW2|P|Mental health wellness 2||603664|Fd|at D4S397||{Mental health wellness-2} (2)| | ||
4.156|10|8|96|4q|PSORS3|P|Psoriasis susceptibility 3||601454|Fd|||{Psoriasis susceptibility 3} (2)| | ||
4.157|9|20|00|4q25|RRH|L|Rhodopsin homolog, retinal pigment epithelium-derived (peropsin)||605224|H|||| | |3(Rrh)|
4.158|2|28|07|4q|WM2|P|Macroglobulinemia, Waldenstrom, susceptibility to, 2||610430|Fd|between D4S2910 and D4S1539||{Macroglobulinemia, Waldenstrom, susceptibility to, 2} (2)| | ||
4.159|12|17|07|4q12|PDCL2|P|Phosducin-like 2||611676|REc|||| | |5(Pdcl2)|
4.160|5|5|00|4q12|CHIC2, BTL|P|Cysteine-rich hydrophobic domain 2 (Brx-like gene translocated in|leukemia)|604332|Ch|||{Leukemia, acute myeloid}, 601626 (3)| | ||
4.161|8|30|09|4q12|HOPX, HOP|P|HOP homeobox||607275|R, REc|||| | ||
4.162|7|15|09|4q12|SPATA18, SPETEX1|P|Spermatogenesis-associated protein 18||612814|REc|||| | ||
4.163|10|12|94|4q13.3|AFM, ALBA, ALB2|C|Afamin||104145|REn, Psh|10kb 3' of AFP||| | ||
4.164|11|16|90|4q13.3|AFP, HPAFP|C|Alpha-fetoprotein||104150|H, A, Fd, F|order: 5'-ALB-3'--5'-AFP-3'||[AFP deficiency, congenital] (1); [Hereditary persistence of|alpha-fetoprotein] (3) | |5(Afp)|
4.165|1|17|01|4q13.3|ALB|C|Albumin||103600|F, A, REa|linked to GC||Analbuminemia (3); [Dysalbuminemic hyperthyroxinemia] (3);|[Dysalbuminemic hyperzincemia], 194470 (1) | |5(Alb1)|
4.166|10|23|87|4q13.3|STATH|P|Statherin||184470|REa|||| | ||
4.167|12|5|11|4q12|AASDH, ACSF4|P|Aminoadipate-semialdehyde dehydrogenase||614365|REc|||| | ||
4.168|12|18|08|4q12|ARL9|P|ADP-ribosylation factor-like 9||612405|REc|||| | ||
4.169|6|7|12|4q12|CEP135, KIAA0635, MCPH8|P|Centrosomal protein, 135kD||611423|REc|||Microcephaly 8, primary, autosomal recessive, 614673 (3)| | ||
4.170|8|27|01|4q12|CLOCK|P|Circadian locomotor output cycles kaput||601851|R, H|||| | |5(Clock)|
4.171|6|1|12|4q12|DANCR, ANCR, KIAA0114|P|Differentiation-antagonizing noncoding RNA||614625|REc, R|||| | ||
4.172|9|9|09|4q12|DCUN1D4, KIAA0276|P|DCN1 domain-containing protein 4||612977|R, REc|||| | ||
4.173|7|7|09|4q12|EXOC1, SEC3|P|Exocyst complex component 1||607879|R, REc|||| | ||
4.174|5|28|03|4q12|FIP1L1|P|Fip1-like 1||607686|REn, REc|fused to PDGFRA in hypereosinophilic syndrome||| | ||
4.175|10|14|09|4q13.3|GC, DBP, GRD3|C|Group-specific component (vitamin D-binding protein)||139200|F, Fc, H, D, Ch, REa, A|4q13-q21.1 by in situ hybridization||{Graves disease, susceptibility to, 3} (3)| | |5(Gc)|
4.176|12|4|03|4q13.2|GRINL1B|P|Glutamate receptor, ionotropic, N-methyl D-aspartate-like 1B||608311|A|||| | ||
4.177|9|14|11|4q12|IGFBP7, MAC25, RAMSVPS|P|Insulin-like growth factor-binding protein-7||602867|A, Psh|||Retinal arterial macroaneurysm with supravalvular pulmonic stenosis,|614224 (3) | ||
4.178|12|28|08|4q12|LNX1, LNX, PDZRN2|P|Ligand of numb protein X1||609732|R|||| | ||
4.179|6|1|12|4q12|MIR4449|P|Micro RNA 4449||614627|REc|||| | ||
4.180|7|18|06|4q12|MYP9|P|Myopia 9||609258|Fd|||Myopia 9 (2)| | ||
4.181|11|9|99|4q12|SGCB, LGMD2E|C|Sarcoglycan, beta (43kD dystrophin-associated glycoprotein)||600900|Psh, A, Fd, LD|||Muscular dystrophy, limb-girdle, type 2E, 604286 (3)| | ||
4.182|12|24|08|4q12|KDR|C|Kinase insert domain receptor||191306|REa, A, REn|?mutant in TAPVR1||Hemangioma, capillary infantile, somatic, 602089 (3); {Hemangioma,|capillary infantile, susceptibility to}, 602089 (3) | ||
4.183|10|4|12|4q12|KIT, PBT|C|Hardy-Zuckerman 4 feline sarcoma (v-kit) oncogene||164920|REa, A, H, Ch, H, REn|same 700bp segment as PDGFRA||Piebaldism, 172800 (3); Gastrointestinal stromal tumor, familial,|606764 (3); Mast cell disease, 154800 (3); Leukemia, acute myeloid, 601626 (3); Germ cell tumors, 273300 (3)| |5(Kit; W)|
4.184|12|12|12|4q12|NOA1, C4orf14|P|Nitric oxide-associated protein 1||614919|REc|||| | ||
4.185|6|16|94|4q12|PAICS, AIRC|P|Phosphoribosylaminoimidazole carboxylase||172439|S, REn|bifunctional enzyme; ade-D; 625bp from PPAT||| | ||
4.186|4|11|03|4q12|PDGFRA|C|Platelet-derived growth factor receptor, alpha polypeptide||173490|A, REa, REn|same 700bp segment as KIT; fused to BCR or FIP1L1||Gastrointestinal stromal tumor, somatic, 606764 (3);|Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3) | |5(Pdgfra)|
4.187|5|2|94|4q12|POL2RB|P|Polymerase (RNA) II (DNA directed) polypeptide B, 140kD||180661|A|||| | ||
4.188|6|16|94|4q12|PPAT, GPAT|P|Phosphoribosylpyrophosphate amidotransferase||172450|S, H, A|||| | ||
4.189|12|18|08|4q12|RASL11B|P|RAS-like, family 11, member B||612404|REc|||| | ||
4.190|8|30|09|4q12|REST, NRSF|P|RE1-silencing transcription factor||600571|R, REc|||| | ||
4.191|6|1|12|4q12|SNORA26|P|Small nucleolar RNA, H/ACA box, 26||614626|REc, R|||| | ||
4.192|11|19|11|4q12|SPINK2|P|Serine protease inhibitor, Kazal-type, 2||605753|Psh, REc|||| | ||
4.193|1|5|12|4q12|SRD5A3, SRD5A2L, CDG1Q, KRIZI|C|Steroid 5-alpha-reductase 3||611715|REc, Fd|||Congenital disorder of glycosylation, type Iq, 612379 (3);|Kahrizi syndrome, 612713 (3) | ||
4.194|6|7|12|4q12|SRP72, BMFF|P|Signal recognition particle, 72kD||602122|R, REc|||Bone marrow failure, familial, 614675 (3)| | ||
4.195|1|22|07|4q12|TAPVR1|C|Total anomalous pulmonary venous return 1||106700|Fd|between D4S1630 and D4S3019; ?mutation in KDR||Total anomalous pulmonary venous return (2)| | ||
4.196|7|18|12|4q12|TMEM165, FT27, CDG2K|P|Transmembrane protein 165||614726|REc|||Congenital disorder of glycosylation, type IIk, 614727 (3)| | ||
4.197|7|9|09|4q12|USP46|P|Ubiquitin-specific peptidase 46||612849|REc|||| | ||
4.198|8|28|02|4q13.3|CXCL1, GRO1, MGSA|C|Chemokine, C-X-C, ligand 1|(GRO1 oncogene; melanoma growth stimulating activity, alpha)|155730|REa, A|apparently cluster of 3 GRO genes||| | |5(Mgsa)|
4.199|8|29|02|4q13.3|CXCL2, GRO2, MIP2A|P|Chemokine, C-X-C motif, ligand 2 (GRO2 oncogene)||139110|REa, A|||| | |5(Mip2a)|
4.200|8|29|02|4q13.3|CXCL3, GRO3, MIP2B|P|Chemokine, C-X-C motif, ligand 3 (GRO3 oncogene)||139111|REa, A|||| | |5(Mip2b)|
4.201|8|30|02|4q13.3|CXCL5, SCYB5, ENA78|P|Chemokine, C-X-C motif, ligand 5|(epithelial-derived neutrophil-activating peptide 78)|600324|Psh, REc|||| | ||
4.202|8|30|02|4q13.3|CXCL6, SCYB6, GCP2|P|Chemokine, C-X-C motif, ligand 6|(granulocyte chemotactic protein-2)|138965|Psh, REc|||| | ||
4.203|4|30|97|4q13.3|IL8|P|Interleukin-8||146930|REa, A|||| | ||
4.204|10|6|92|4q13.3|PF4|C|Platelet factor 4||173460|REa, A, REn|6kb from PF4V1||| | ||
4.205|10|6|92|4q13.3|PF4V1|C|Platelet factor 4, variant 1 (PF4-like)||173461|A, REa, REn|same region as PF4 and IP10||| | ||
4.206|8|25|11|4q13.3|PPBP, CXCL7, SCYB7, CTAP3, TGB|C|Pro-platelet basic protein||121010|Psh, A, REn|less than 7kb from PF4||| | ||
4.207|6|18|04|4q13.3|PPBPL1, TGB2|P|Pro-platelet basic protein-like 1|(thromboglobulin, beta-2)|188035|REn|in cluster with PPBP, PF4, and PF4V1||| | ||
4.208|11|19|11|4q12-q13.1|MRT31|P|Mental retardation, autosomal recessive 31||614329|Fd|between rs11944876 and rs6551838||Mental retardation, autosomal recessive 31 (2)| | ||
4.209|12|4|08|4q12-q13.1|DFNA27|P|Deafness, autosomal dominant 27||612431|Fd|max lod at D4S398||Deafness, autosomal dominant 27 (2)| | ||
4.210|3|13|06|4q12-q13.2|DFNB55|P|Deafness, autosomal recessive 55||609952|Fd|max lod at D4S2638||Deafness, autosomal recessive 55 (2)| | ||
4.211|8|18|98|4q13.2|CENPC1, CENPC|C|Centromere autoantigen C1||117141|A|?pseudogene on chr.12||| | |5(Cenpc)|
4.212|3|30|12|4q21.21|RASGEF1B, GPIG4|P|RASGEF domain family, member 1B||614532|REc|||| | ||
4.213|3|13|06|4q13.1|EPHA5, TYRO4, HEK7|P|Ephrin receptor EphA5||600004|A|||| | ||
4.214|7|9|06|4q13.3|GRSF1|P|G-rich RNA sequence-binding factor 1||604851|A|||| | ||
4.215|3|29|90|4q13.3|HTN1|P|Histatin-1||142701|REa, A|3 genes in a 15kb segment||| | ||
4.216|6|16|97|4q13.3|HTN3, HTN2, HIS2|P|Histatin-3||142702|REa, A|||| | ||
4.217|12|13|00|4q13.2-q13.3|UGT2A1|P|Uridine diphosphate glycosyltransferase 2 family, member A1||604716|A|||| | ||
4.218|6|23|98|4q13.2|UGT2B4, UGT2B11|C|UDP-glucuronyltransferase, family 2, beta-4||600067|Psh, REn, A|cluster in order B7--B4--B15 in 195kb||| | |5(Ugt2b4)|
4.219|6|23|98|4q13.2|UGT2B7, UGT2B9|P|UDP-glucuronyltransferase, family 2, beta-7||600068|Psh, REn, A|||| | ||
4.220|6|23|98|4q13.2|UGT2B15, UGT2B8|C|UDP-glucuronyltransferase, family 2, beta-15||600069|Psh, REn, A|||| | ||
4.221|5|25|13|4q13.2|UGT2B17, BMND12|P|UDP-glucuronyltransferase, family 2, beta-17||601903|A|||{Bone mineral density QTL 12, osteoporosis}, 612560 (3)| | ||
4.222|11|19|11|4q13-q21|AIS4, VAMAS5|P|Autoimmune disease, susceptibility to, 4||609400|Fd|between D4S392 and D4S3042||{Autoimmune disease, susceptibility to, 4} (2)| | ||
4.223|6|8|89|4q13.3|AREG|P|Amphiregulin||104640|REa, A|||| | |5(Areg)|
4.224|10|1|95|4q13.3|BTC|L|Betacellulin||600345|H|tightly linked to Areg in mouse||| | |5(Btc)|
4.225|6|12|97|4q13.3|CSN10, CSN3|C|Casein, kappa||601695|REc, A|||| | ||
4.226|10|4|02|4q21.22|HNRPDL, JKTBP|P|Heterogeneous nuclear ribonucleoprotein D-like protein||607137|A|||| | ||
4.227|10|5|06|4q13.3|MUC7|P|Mucin 7, salivary||158375|A, Psh|||{Asthma, protection against}, 600807 (3)| | ||
4.228|9|22|11|4q21.1|SCARB2, CD36L2, LIMPII, AMRF, EPM4|C|Scavenger receptor class B, member 2||602257|Psh, Fd|||Epilepsy, progressive myoclonic 4, with or without renal failure,|254900 (3) | ||
4.229|3|3|03|4q31.21|GAB1|P|Grb2-associated binding protein 1||604439|A|||| | |8(Gab1)|
4.230|11|20|95|4q13.3|STE, EST|P|Sulfotransferase, estrogen-preferring||600043|Psh, A|||| | |5(Ste)|
4.231|5|5|98|4q21.21|PRKG2, PRKGR2|P|Protein kinase, cGMP-dependent, type II||601591|Psh|||| | ||
4.232|5|2|07|4q13.2|SYT14L, SYTDEP, CHR415SYT|P|Synaptotagamin 14-like protein||610892|REc|||| | ||
4.233|1|9|08|4q13.2|TMPRSS11A, ECRG1|P|Transmembrane protease, serine 11A||611704|REc|||| | ||
4.234|4|4|05|4q13.2|UGT2B28|P|Uridine diphosphate glycosyltransferase 2 family, member B28||606497|REc|||| | ||
4.235|6|19|12|4q13.2|UGT2B11|P|Uridine diphosphate glycosyltransferase 2 family, member B11||603064|REc|||| | ||
4.236|2|28|03|4q13.3|GPR74, NPFF2, NPGPR|P|G protein-coupled receptor 74||607449|R|||| | ||
4.237|1|2|08|4q13.2-q21.3|FMTLE, ETL3|P|Epilepsy, familial mesial temporal lobe||611630|Fd|max lod at D4S1517||Epilepsy, familial mesial temporal lobe (2)| | ||
4.238|4|17|07|4q13.3|AMTN|P|Amelotin||610912|REc, H|||| | |5(Amtn)|
4.239|9|8|11|4q13.3|MTHFD2L|P|Methylenetetrahydrofolate dehydrogenase 2-like, NADP(+)-dependent||614047|REc|||| | ||
4.240|2|23|08|4q13.3|PPBPL2|P|Pro-platelet basic protein-like 2||611591|R, REc|||| | ||
4.241|2|18|09|4q13.3|RASSF6|P|Ras association domain family, member 6||612620|REc|||| | ||
4.242|8|19|13|4q13.3|RUFY3, SINGAR1, RIPX|P|FUN and FYVE domains-containing protein 3||611194|REc|||| | ||
4.243|2|23|08|4q13.3|SMR3B, SMR1B, PRL3, PBII|P|Submaxillary gland androgen-regulated protein 3,mouse, homolog of, B||611593|REc|||| | ||
4.244|8|8|13|4q13.3|SULT1B1, ST1B2|P|Sulfotransferase family 1B, member 1||608436|REc|||| | ||
4.245|8|19|13|4q13.2|TMPRSS11E, DESC1|P|Transmembrane protease, serine 11E||610399|REc|||| | |5(Tmprss11e)|
4.246|9|12|93|4q13.3|DCK|C|Deoxycytidine kinase||125450|Psh, A|||| | ||
4.247|1|29|01|4q13.3|ADAMTS3|C|A Disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 3|605011|R, REa|||| | ||
4.248|7|16|09|4q21.3-q22.1|AFF1, MLLT2, AF4|C|AF4/FMR2 family, member 1||159557|Ch, H|fuses with ALL1||| | |5(Af4)|
4.249|4|18|97|4q13.3|AMBN|C|Ameloblastin||601259||||| | |5(Ambn)|
4.250|1|18|13|4q21.21|ANTXR2, CMG2, HFS|P|Anthrax toxin receptor 2||608041|Fd, REc|||Hyaline fibromatosis syndrome, 228600 (3)| | ||
4.251|6|6|91|4q21.21|ANXA3, ANX3|P|Annexin A3 (lipocortin III)||106490|Psh, REa, A|||| | ||
4.252|11|30|06|4q21.2-q21.3|ARHGAP24, RCGAP72, FILGAP|P|RHO GTPase-activating protein 24||610586|REc|||| | ||
4.253|12|15|10|4q21|DEL4q21, C4DELq21|P|Chromosome 4q21 deletion syndrome||613509|Ch|contigous gene deletion if at least 30 genes||Chromosome 4q21 deletion syndrome (4)| | ||
4.254|6|15|99|4q21.23|CDS1|P|CDP-diacylglycerol synthase 1||603548|R, A|||| | ||
4.255|8|29|02|4q21.1|CXCL9, MIG, SCYB9|P|Chemokine, C-X-C motif, ligand 9||601704|A, REn|close to INP10||| | ||
4.256|8|29|02|4q21.1|CXCL10, INP10|C|Chemokine, C-X-C motif, ligand 10|(interferon-inducible cytokine IP-10)|147310|A, REa, F|?involved in monocytic leukemia with t(4;11)(q21;q23)||| | ||
4.257|8|30|02|4q21.1|CXCL13, SCYB13, BCA1, BLC|P|Chemokine, C-X-C motif, ligand 13||605149|REc|||| | ||
4.258|1|23|09|4q22.1|DMP1, ARHR, ARHP|C|Dentin matrix acidic phosphoprotein||600980|Fd, REn, Psh, A|||Hypophosphatemic rickets, AR, 241520 (3)| | ||
4.259|8|4|09|4q13.3|ENAM, AIH2, AI1C|C|Enamelin||606585|REc|||Amelogenesis imperfecta, type IB, 104500 (3);|Amelogenesis imperfecta, type IC, 204650 (3) | ||
4.260|7|5|92|4q21.21|FGF5|C|Fibroblast growth factor-5||165190|REa, A|||| | |5(Fgf5)|
4.261|5|28|03|4q21.21|FRAS1|P|FRAS1 gene||607830|Fd|||Fraser syndrome, 219000 (3)| | |5(bl, Fras1)|
4.262|7|16|09|4q22.1|HSD17B11, RETSDR2, PAN1B|P|17-beta-hydroxysteroid dehydrogenase XI||612831|R, REc|||| | ||
4.263|3|30|00|4q13.3|IGJ|P|Immunoglobulin J polypeptide, linker protein for||147790|REa, A|||| | |5(Igj)|
4.264|4|9|05|4q21|LGMD1G|P|Limb-girdle muscular dystrophy, type 1G||609115|Fd|max lod at D4S2964||Limb-girdle muscular dystrophy, type 1G (2)| | ||
4.265|11|2|99|4q13.3|SLC4A4, NBC1, KNBC, SLC4A5|P|Solute carrier family 4, sodium bicarbonate cotransporter, member 4||603345|Psh|||Renal tubular acidosis, proximal, with ocular abnormalities,|604278 (3) | ||
4.266|1|18|11|4q22.1|SNCA, NACP, PARK1, PARK4|C|Synuclein, alpha (non A4 component of amyloid precursor)||163890|Psh, A, Fd|||Parkinson disease 4, 605543 (3); Dementia, Lewy body, 127750 (3);|Parkinson disease 1, 168601 (3) | ||
4.267|2|18|08|4q13.3|UTP3, CRL1, CRLZ1|P|UTP3, S. crevisiae, homolog of||611614|REc|||| | |5(Utp3)|
4.268|8|7|13|4q21.23|COQ2, COQ10D1, MSA1|P|CoQ2, S. cerevisiae, homolog of|(parahydroxybenzoate-polyprenyltransferase, mitochondrial)|609825|REc|||Coenzyme Q10 deficiency, primary, 1, 607426 (3); {Multiple system|atrophy, susceptibility to}, 146500 (3) | ||
4.269|9|22|09|4q22.3|HPGDS, PGDS|P|Prostaglandin D2 synthase, hematopoietic||602598|A|||| | |3(Pgds)|
4.270|8|29|08|4q22.1|NAP1L5, DRLM|P|Nucleosome assembly protein 1-like 5||612203|REc|||| | ||
4.271|11|3|09|4q22.1|PKD2|C|Polycystin-2||173910|Fd|||Polycystic kidney disease 2, 613095 (3)| | |5(Pkd2)|
4.272|8|9|99|4q22.3|UNC5C, UNC5H3|P|UNC5, C. elegans, homolog of, C||603610|R|||| | |3(Unc5c)|
4.273|9|9|90|4q23|ADH5, FDH|C|Alcohol dehydrogenase (class III), chi polypeptide||103710|S, REa|||| | ||
4.274|3|14|13|4q23|EIF4E, EIF4EL1, AUTS19|C|Eukaryotic translation initiation factor 4E||133440|Psh|pseudogene on 20||{Autism, susceptibility to, 19}, 615091 (3)| | ||
4.275|9|12|93|4q21-q25|FECB|L|Fecundity gene, Boorla, of sheep, homolog of||134720|H|sheep chr.6||| | ||
4.276|2|18|96|4q22.1|IBSP|C|Integrin-binding sialoprotein (bone sialoprotein II)||147563|REa, A|||| | |5(Ibsp)|
4.277|2|4|00|4q23|RAP1GDS1|P|RAP1, GTP-GDP dissociation stimulator 1||179502|A, REa, Ch|fusion partner with NUP98 in ALL||Lymphocytic leukemia, acute T-cell (3)| | ||
4.278|1|27|97|4q22.1|SPP1, OPN|C|Secreted phosphoprotein-1 (osteopontin, bone sialoprotein)||166490|REa, REc|||| | |5(Spp1)|
4.279|8|25|04|4q21-q31|OFC4|P|Orofacial cleft 4||608371|Fd, Ch|||Orofacial cleft 4 (2)| | ||
4.280|7|27|12|4q21.1|ART3|P|ADP-ribosyltransferase 3||603086|REa, A, REc|||| | ||
4.281|9|25|12|4q21.1|C4orf26|P|Chromosome 4 open reading frame 26||614829|REc|||Amelogenesis imperfecta, hypomaturation type, IIA4, 614832 (3)| | ||
4.282|7|20|12|4q21.1|CCNG2|P|Cyclin G2||603203|REc|||| | ||
4.283|5|25|13|4q21.1|CDKL2, KKIAMRE, P56|P|Cyclin-dependent kinase-like 2||603442|REc|||| | ||
4.284|5|24|13|4q13.3|COX18|P|Cytochrome c oxidase assembly protein COX18||610428|REc|||| | ||
4.285|8|3|97|4q13.3|CSN1|C|Casein, alpha||115450|REa, A|||| | ||
4.286|8|3|97|4q13.3|CSN2|C|Casein, beta||115460|Psh, A|||| | |5(Csn2)|
4.287|5|7|01|4q22.1|MEPE|P|Matrix, extracellular, phosphoglycoprotein||605912|REa, R|||| | ||
4.288|2|26|08|4q21.1|MRPL1|P|Mitochondrial ribosomal protein L1||611821|REc|||| | ||
4.289|12|26|13|4q21.1|NAAA, ASAHL|P|N-acylethanolamine acid amidase||607469|A|||| | ||
4.290|8|30|09|4q21.1|NUP54|P|Nucleoporin, 54kD||607607|R, REc|||| | ||
4.291|10|15|13|4q21.21|PCAT4, GDEP|P|Prostate cancer-associated transcript 4||609717|R|||| | ||
4.292|8|30|09|4q21.1|PPEF2|P|Protein phosphatase, EF hand calcium-binding domain-2||602256|Psh, REc|||| | ||
4.293|1|27|04|4q21.22|SCD4, ACOD4|P|Stearoyl-CoA desaturase 4||608370|A, REc|||| | ||
4.294|7|20|09|4q21.1|SEPT11|P|Septin 11||612887|REc|||| | ||
4.295|4|18|07|4q21.1|SHROOM3, SHRM, KIAA1481|P|Shroom family member 3||604570|REa, REc|||| | ||
4.296|1|20|09|4q21.1|THAP6|P|THAP domain-containing protein 6||612535|REc|||| | ||
4.297|7|20|12|4q21.1|USO1, TAP, p115|P|USO1 vesicle docking protein, S. cerevisiae, homolog of||603344|REc|||| | ||
4.298|12|1|98|4q21.22|HNRPD, AUF1, AUF1A|P|Heterogeneous nuclear ribonucleoprotein D||601324|REa, A|||| | |3(Hnrpd)|
4.299|2|25|08|4q21.23|CCDC98, ABRAXAS, ABRA1|P|Coiled-coil domain-containing protein 98||611143|REc|||| | ||
4.300|8|30|02|4q21.1|CXCL11, SCYB11, IP9, CXCL11, SCYB9B|C|Chemokine, C-X-C motif, ligand 11||604852|Psh, A, REc|||| | |5(Scyb11)|
4.301|9|28|12|4q13.2|GNRHR, LHRHR, HH7|C|Gonadotropin-releasing hormone receptor||138850|REa, A, Psh|placed at 4q12 or 4q13 by some||Hypogonadotropic hypogonadism 7 with or without anosmia, 146110 (3);|Fertile eunuch syndrome, 228300 (3) | |5(Gnrhr)|
4.302|4|19|01|4q32.3|KLHL2, MAYVEN|P|Kelch-like 2||605774|REa|||| | |8(Klhl2)|
4.303|5|5|98|4q21.23|NKX6A|P|NK homeo box, family 6, member A||602563|A|||| | ||
4.304|4|19|12|4q21.21|PAQR3, RKTG|P|Progestin and ADIPOQ receptor family, member 3||614577|REc|||| | ||
4.305|4|20|10|4q21.22|LIN54|P|Lin54, C. elegans, homolog of||613367|REc|||| | ||
4.306|3|30|12|4q21.22|SEC31A, SEC31L1, KIAA0905|P|Sec31, yeast, homolog of, A||610257|R, REc|||| | ||
4.307|1|20|09|4q21.22|THAP9|P|THAP domain-containing protein 9||612537|REc|||| | ||
4.308|9|21|11|4q21.23|AGPAT9, GPAT3, MAG1|P|1-acylglycerol-3-phosphate O-acyltransferase 9||610958|REc|||| | ||
4.309|3|30|12|4q21.23|HELQ, HEL308|P|Helicase, POLQ-like||606769|H, REc|||| | |5(Hel308)|
4.310|4|24|08|4q21.23|MRPS18C, MRPS18-1|P|Mitochondrial ribosomal protein S18C||611983|REc|6 pseudogenes||| | ||
4.311|4|27|00|4q21.23|HPSE, HSE1, HPA|P|Heparanase||604724|A, R|||| | ||
4.312|1|22|97|4q21.3|PTPN13|C|Protein tyrosine phosphatase, nonreceptor-type, 13 (APO-1/CD95|(Fas)-associated phosphatase)|600267|A, Psh|633bp upstream of JNK3||| | |5(Ptpn13)|
4.313|6|21|05|4q22.1|DSPP, DPP, DGI1, DFNA39, DTDP2|C|Dentin sialophosphoprotein||125485|REa, A, F, Fd|||Dentinogenesis imperfecta, Shields type II, 125490 (3); Deafness,|autosomal dominant 36, with dentinogenesis, 605594 (3); Dentinogenesis imperfecta, Shields type III, 125500 (3); Dentin dysplasia, type II, 125420|(3) ||
4.314|9|23|13|4q21.3|MAPK10, PRKM10, JNK3|C|Mitogen-activated protein kinase 10||602897|REa, A, REn|||| | ||
4.315|4|20|10|4q21.3|SLC10A6, SOAT|P|Solute carrier family 10 (sodium/bile acid cotransporter family),|member 6|613366|REc|||| | ||
4.316|3|29|12|4q22.1|ABCG2, BCRP, ABCP, UAQTL1, GOUT1|P|ATP-binding cassette, subfamily G, member 2||603756|R|||[Junior blood group system], 614490 (3); [Uric acid concentration,|serum, QTL1], 138900 (3) | |6(Abcp)|
4.317|8|26|02|4q23|ADH1A, ADH1|C|Alcohol dehydrogenase IA (class I), alpha polypeptide||103700|REa|||| | ||
4.318|1|26|12|4q23|ADH1B, ADH2|C|Alcohol dehydrogenase IB (class I), beta polypeptide||103720|REa|||{Alcohol dependence, protection against}, 103780 (3);|{Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} (3)| ||
4.319|11|14|10|4q23|ADH1C, ADH3|C|Alcohol dehydrogenase IC (class I), gamma polypeptide||103730|REa|||{Alcohol dependence, protection against}, 103780 (3); {Parkinson|disease, susceptibility to}, 168600 (3) | |3(Adh3)|
4.320|11|6|89|4q23|ADH4|P|Alcohol dehydrogenase (class II), pi polypeptide||103740|REa, A|||| | ||
4.321|8|28|97|4q22.2|ATOH1, ATH1|P|Atonal, Drosophila, homolog of, 1||601461|REa, A|||| | ||
4.322|9|5|03|4q22.3|COX7A3|L|Cytochrome c oxidase, subunit VIIa, polypeptide-3, liver||123997|REa|possibly on chr.14 or chr.6||| | ||
4.323|8|9|01|4q22.3|ENH|P|Enigma-like LIM domain protein||605904|Psh|||| | ||
4.324|5|5|98|4q22.1-q22.2|GRID2|C|Glutamate receptor, ionotropic, delta-2||602368|R, REc|||| | |6(Grid2)|
4.325|10|27|08|4q22|MUSQTL1|P|Musical aptitude quantitative trait locus 1||612343|Fd|near D4S423 and D4S2460||[Musical aptitude QTL 1] (2)| | ||
4.326|1|2|91|4q22.3|PDHA2|P|Pyruvate dehydrogenase, E1-alpha polypeptide, testis specific|form|179061|REa|||| | |19(Pdhal)|
4.327|9|12|11|4q22.3|SMARCAD1, KIAA1122, ETL1, HEL1, ADERM|P|SWI/SNF-related, matrix-associated actin-dependent regulator of|chromatin, subfamily A, DEAD/H box-containing, 1|612761|A|||Adermatoglyphia, 136000 (3)| | ||
4.328|9|1|09|4q24|BANK1, FLJ20706, BANK|P|B-cell scaffold protein with ankyrin repeats 1||610292|REc|associated with rs10516487||{Systemic lupus erythematosus, association with}, 152700 (3)| | ||
4.329|12|18|07|4q24|CXXC4, IDAX|P|CXXC finger protein 4||611645|R, REc|||| | ||
4.330|12|29|06|4q23|MTP|P|Microsomal triglyceride transfer protein, 88kD||157147|Psh, A|||Abetalipoproteinemia, 200100 (3); {Metabolic syndrome, protection|against}, 605552 (3) | |3(Mtp)|
4.331|10|8|07|4q24|CISD2, WFS2, ZCD2, ERIS|C|CDGSH iron sulfur domain protein 2||611507|Fd, REc|||Wolfram syndrome 2, 604928 (3)| | ||
4.332|8|9|05|4q24|MANBA, MANB1|C|Mannosidase, beta A, lysosomal||609489|H, REa|linked in mouse to Adl-3||Mannosidosis, beta, 248510 (3)| | |3(Bmn)|
4.333|3|17|06|4q25|HADHSC, SCHAD, HHF4|C|L-3-hydroxyacyl-CoA dehydrogenase, short chain||601609|A|||3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3);|Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3) | ||
4.334|3|23|06|4q22-q27|MYP11|P|Myopia 11||609994|Fd|max lod at D4S1564||Myopia 11 (2)| | ||
4.335|3|16|10|4q22.1|FAM13A, FAM13A1, KIAA0914|C|Family with sequence similarity 13, member A||613299|R, REc|overlaps with FAM13AOS||| | ||
4.336|3|16|10|4q22.1|FAM13AOS, FAM13A1OS|P|FAM13A opposite strand||613300|REc|overlaps with FAM13A||| | ||
4.337|5|26|13|4q22.1|GPRIN3, GRIN3|P|G protein-regulated inducer of neurite outgrowth 3||611241|REc|||| | ||
4.338|8|18|08|4q22.1|HSD17B13, SCDR9|P|17-beta-hydroxysteroid dehydrogenase XIII||612127|REc|||| | ||
4.339|4|23|08|4q22.1|KLHL8, KIAA1378|P|Kelch-like 8||611967|REc|||| | ||
4.340|1|31|13|4q22.1|PIGY|P|Phosphatidylinositol glycan, class Y||610662|REc|||| | ||
4.341|3|8|13|4q22.1|PPM1K, PP2CM, PTMP, MSUDMV|P|Protein phosphatase, PP2C domain-containing, 1K||611065|R, REc|||Maple syrup urine disease, mild variant, 615135 (3)| | ||
4.342|9|10|09|4q22.1|TIGD2|P|TIGGER transposable element-derived gene 2||612973|REc|||| | ||
4.343|3|10|05|4q22.1|HERC5, CEB1|C|HECT domain and RCC1-like domain 5||608242|A, REa|||| | ||
4.344|7|18|12|4q23|LAMTOR3, MP1, MAPBP|P|Late endocomal/lysosomal adaptor, mitogen-activated protein kinase and|mammalian target of rapamycin activator 3|603296|REc|||| | ||
4.345|12|21|09|4q23|TSPAN5, NET4|P|Tetraspanin 5||613136|REn|||| | ||
4.346|3|1|00|4q23|TYS, HRZ|P|Sclerotylosis||181600|F, Fd|||Huriez syndrome (2)| | ||
4.347|8|26|02|4q23|ADH6|P|Alcohol dehydrogenase 6 (aldehyde reductase)||103735|REn|||| | ||
4.348|12|19|96|4q23|ADH7|C|Alcohol dehydrogenase-7||600086|A|||| | ||
4.349|1|16|09|4q22.3|BMPR1B, ALK6|P|Bone morphogenetic protein receptor, type IB||603248|A, R|||Brachydactyly, type A2, 112600 (3); Chrondrodysplasia, acromesomelic,|with genital anomalies, 609441 (3) | ||
4.350|10|4|93|4q24|NFKB1|C|Nuclear factor of kappa light chain gene enhancer in B-cells 1 (p105)||164011|REa, A|||| | ||
4.351|7|9|06|4q25|LEF1|P|Lymphoid enhancer-binding factor-1||153245|REa, A|||Sebaceous tumors, somatic (3)| | |3(Lef1)|
4.352|2|16|11|4q24|AIMP1, SCYE1, EMAP2, EMAPII, HLD3|P|ARS-interacting multifunctional protein 1||603605|REc, R|||Leukodystrophy, hypomyelinating, 3, 260600 (3)| | ||
4.353|4|7|94|4q23|H2AZ|P|H2AZ histone||142763|REa, A|||| | ||
4.354|4|4|02|4q24|MGR1, MA|C|Migraine with or without aura, susceptibility to, 1||157300|Fd|||{Migraine with or without aura, susceptibility to, 1} (2)| | ||
4.355|2|12|08|4q24|NHEDC2, NHA2|P|NA+/H+ exchanger domain-containing protein 2||611789|REc, H|||| | |3(Nhedc1)|
4.356|10|13|09|4q24|NHEDC1|P|Na+/H+ exchanger domain-containing protein 1||611527|REc|||| | ||
4.357|5|24|13|4q24|NPNT, POEM|P|Nephronectin||610306|REc|||| | ||
4.358|10|8|13|4q24|OCA5|P|Albinism, oculocutaneous, type V||615312|Fd|max lod at D4S961||Albinism, oculocutaneous, type V (2)| | ||
4.359|6|11|02|4q25|PAPSS1, ATPSK1|C|3'-phosphoadenosine 5'-phosphosulfate synthase 1|(ATP sulfurylase/APS kinase-1)|603262|R, A|||| | |3(Atpsk1)|
4.360|10|26|11|4q24|TET2, KIAA1546, MDS|P|TET oncogene family, member 2||612839|REc|||Myelodysplastic syndrome, somatic, 614286 (3)| | ||
4.361|1|2|95|4q24|CENPE|P|Centromere autoantigen E, 312kD||117143|A|||| | ||
4.362|8|30|09|4q24|DDIT4L, REDD2|P|DNA damage-inducible transcript 4-like||607730|R, REc|||| | ||
4.363|8|30|09|4q24|PPP3CA, PPP2B, CALNA, CNA1|C|Protein phosphatase-3 (formerly 2B), catalytic subunit, alpha isoform|(calcineurin A alpha)|114105|REa, REc|||| | ||
4.364|4|14|10|4q24-q28|HWE2|P|Epilepsy, hot water, 2||613340|Fd|between D4S1572 and D4S2277||Epilepsy, hot water, 2 (2)| | ||
4.365|7|20|12|4q25|AGXT2L1|P|Alanine-glyoxylate aminotransferase 2-like 1||614682|REc|||| | ||
4.366|1|28|08|4q25|ALPK1, LAK, KIAA1527|C|Alpha-kinase 1||607347|REc|||| | ||
4.367|10|08|07|4q25|ATFB5|P|Atrial fibrillation, familial, 5||611494|Fd|association with rs2200733 and rs10033464||{Atrial fibrillation, familial, 5} (2)| | ||
4.368|3|15|07|4q25|C4orf16, GBAR, 2C18|P|Gamma-1 adaptin brefeldin-A resistance protein||610851|REc|||| | ||
4.369|10|15|13|4q25|CFI, FI, AHUS3, ARMD13|C|Complement factor I||217030|REa, Fd, A, RE|40kb distal to EGF||Complement factor I deficiency, 610984 (3); {Hemolytic uremic|syndrome, atypical, susceptibility to, 3}, 612923 (3); {Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)| ||
4.370|3|24|06|4q25|COL25A1, CLAC|P|Collagen, type XXV, alpha-1 polypeptide||610004|REc|||| | ||
4.371|1|28|13|4q25|CYP2U1, SPG56|P|Cytochrome P450, family 2, subfamily U, polypeptide 1||610670|R, REc|||Spastic paraplegia 56, autosomal recessive, 615030 (3)| | ||
4.372|1|9|08|4q25|EGF, URG, HOMG4|C|Epidermal growth factor (urogastrone)||131530|REa, H, F, RE|linked to ADH3; cen-ADH3-EGF-IL2-qter||Hypomagnesemia 4, renal, 611718 (3)| | |3(Egf)|
4.373|11|5|97|4q25|ENPEP|P|Glutamyl aminopeptidase (aminopeptidase A)||138297|Psh, A, R, H|||| | ||
4.374|8|20|08|4q25|ELOVL6, LCE, FACE|P|Elongation of very long chain fatty acids-like 6||611546|REc|||| | ||
4.375|4|27|09|4q25|NOLA1, GAR1|P|Nucleolar protein family A, member 1||606468|R, REc|||| | ||
4.376|2|12|13|4q25|LARP7, PIP7S, ALAZS|P|La ribonucleoprotein domain family, member 7||612026|R, REc|||Alazami syndrome, 615071 (3)| | ||
4.377|7|23|09|4q25|LGV1|P|Longevity 1, QTL||152430|Fd|maximum lod at D4S1564||[Longevity 1] (2)| | ||
4.378|1|31|13|4q25|LRIT3, FIGLER4, CSNB1F|P|Leucine-rich repeat, immunoglobulin-like, and transmembrane|domains-containing protein 3|615004|REc|||Night blindness, congenital stationary (complete), 1F, autosomal|recessive, 615058 (3) | ||
4.379|11|19|13|4q25|MIR297|P|Micro RNA 297||615520|REc|||| | ||
4.380|4|27|12|4q25|MIR302A|P|Micro RNA 302A||614596|REc|||| | ||
4.381|4|27|12|4q25|MIR302B|P|Micro RNA 302B||614597|REc|||| | ||
4.382|4|27|12|4q25|MIR302C|P|Micro RNA 302C||614598|REc|||| | ||
4.383|4|27|12|4q25|MIR302D|P|Micro RNA 302D||614599|REc|||| | ||
4.384|4|27|12|4q25|MIR367|P|Micro RNA 367||614600|REc|||| | ||
4.385|6|21|12|4q25|NEUROG2, NGN2, ATOH4|P|Neurogenin 2||606624|REc|||| | ||
4.386|3|23|06|4q24|PPA2|P|Pyrophosphatase, inorganic, 2||609988|REc|||| | ||
4.387|12|07|07|4q25|SGMS2, SMS2|P|Sphingomyelin synthase 2||611574|R|||| | ||
4.388|9|28|12|4q24|TACR3, NK3R, HH11|P|Tachykinin receptor 3||162332|REc|||Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3)| | ||
4.389|6|4|97|4q25|CASP6, MCH2|C|Caspase 6, apoptosis-related cysteine protease||601532|A, R|||| | ||
4.390|12|18|07|4q25|PLA2G12A, GXII, ROSSY|P|Phospholipase A2, Group XIIA||611652|REc|||| | ||
4.391|1|29|13|4q26|NDST4|P|N-deacetylase/N-sulfotransferase 4||615039|A, REn|||| | ||
4.392|3|4|09|4q25|PITX2, IDG2, RIEG1, RGS, IGDS2|C|Paired-like homeodomain transcription factor-2||601542|Ch, Fd, RE|||Axenfeld-Rieger syndrome, type 1, 180500 (3); Iridogoniodysgenesis,|type 2, 137600 (3); Ring dermoid of cornea, 180550 (3); Peters anomaly, 604229 (3)| ||
4.393|2|21|06|4q26|PRSS12, BSSP3, MRT1|P|Protease, serine, 12||606709|A|||Mental retardation, autosomal recessive 1, 249500 (3)| | ||
4.394|9|12|08|4q25-q26|ANK2, LQT4|C|Ankyrin-2, nonerythrocytic||106410|REa, A, Fd|||Long QT syndrome-4, 600919 (3); Cardiac arrhythmia,|ankyrin-B-related, 600919 (3) | ||
4.395|8|27|01|4q23|DAPP1, BAM32|P|Dual adaptor of phosphotyrosine and 3-phosphoinositides 1||605768|A|||| | ||
4.396|7|5|92|4q27-q28|FGF2, FGFB|C|Fibroblast growth factor-2 (basic)||134920|REa, A|many alternate names||| | |3(Fgf2)|
4.397|2|28|03|4q21.1|GENEX3414|P|Genethonin 1||607406|R|||| | ||
4.398|5|19|06|4q26|ARSJ|P|Arylsulfatase J||610010|REc|||| | ||
4.399|8|30|09|4q26|CAMK2D|P|Calcium/calmodulin-dependent protein kinase II-delta||607708|R, REc|||| | ||
4.400|11|24|98|4q26|PDE5A|C|Phosphodiesterase 5A||603310|A, REc|||| | ||
4.401|5|22|03|4q28.2|PGRMC2|P|Progesterone receptor membrane component 2||607735|REc|||| | ||
4.402|1|22|13|4q26|UGT8, CGT|P|UDP glycosyltransferase 8 (cerebroside synthase)||601291|Psh, A|||| | ||
4.403|7|9|90|4q27|IL2|C|Interleukin-2||147680|REa, A, F|||Severe combined immunodeficiency due to IL2 deficiency (1)| | |3(Il2)|
4.404|11|6|00|4q27|IL21|P|Interleukin 21||605384|R|||| | |3(Il21)|
4.405|3|28|11|4q26|MYOZ2, CMH16|P|Myozenin 2||605602|REc|||Cardiomyopathy, familial hypertrophic, 16, 613838 (3)| | ||
4.406|5|4|12|4q27|ANXA5, ENX2, RPRGL3|C|Annexin A5 (endonexin II)||131230|REa, A, D|||{Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3)| | |3(Anx5)|
4.407|7|27|11|4q27|ADAD1, TENR|P|Adenosine deaminase domain-containing protien 1, testis-specific||614130|REc|||| | ||
4.408|2|28|03|4q27|BBS7|C|BBS7 gene||607590|REc, REn|||Bardet-Biedl syndrome 7, 209900 (3)| | ||
4.409|1|7|06|4q27|BBS12, FLJ35630, C4orf24|C|BBS12 gene||610683|Fd, REc|1Mb centromeric to BBS||Bardet-Biedl syndrome 12, 209900 (3)| | ||
4.410|8|24|92|4q27|CCNA, CCN1|C|Cyclin A||123835|A|||| | |3(Cyca)|
4.411|2|23|08|4q27|CELIAC6, AIS5|P|Celiac disease, susceptibility to, 6||611598|Fd|||{Celiac disease, susceptibility to, 6} (2); {Autoimmune disease,|susceptibility to, 5} (2) | ||
4.412|8|30|09|4q27|EXOSC9, PMSCL1|P|Exosome component 9||606180|R, REc|||| | ||
4.413|2|18|09|4q27|IDDM23|P|Diabetes mellitus, insulin-dependent, 23||612622|Fd|associated with rs6534347||{Diabetes mellitus, insulin-dependent, 23} (2)| | ||
4.414|12|17|07|4q27|KIAA1109|C|KIAA1109 gene||611565|R, REc|||| | ||
4.415|6|19|98|4q27|MAD2L1|C|Mitotic arrest deficient, yeast, homolog-like 1||601467|REa, R, A|previously mapped to 5q23-q31||| | ||
4.416|8|25|11|4q27|PRDM5, BCS2|P|PR domain-containing protein 5||614161|REc|||Brittle cornea syndrome 2, 614170 (3)| | ||
4.417|8|9|99|4q31.3|PET112L|P|Pet112, S. cerevisiae, homolog-like||603645|TM|||| | ||
4.418|1|29|01|4q28.2|PLK4, STK18, SAK|P|Polo-like kinase 4|(serine/threonine protein kinase-18)|605031|A|||| | |13(Sak)|
4.419|11|19|11|4q27-q28.2|MRT29|P|Mental retardation, autosomal recessive 29||614333|Fd|between rs843571 and rs318539||Mental retardation, autosomal recessive 29 (2)| | ||
4.420|4|10|03|4q28|DFNA52|P|Deafness, autosomal dominant 52||607683|Fd|||Deafness, autosomal dominant 52 (2)| | ||
4.421|5|28|02|4q31.3|FGA|C|Fibrinogen, alpha polypeptide||134820|RE, REa, H, D, LD, A|||Dysfibrinogenemia, alpha type, causing bleeding diathesis (3);|Dysfibrinogenemia, alpha type, causing recurrent thrombosis (3); Amyloidosis, hereditary renal, 105200 (3); Afibrinogenemia, congenital, 202400 (3)| ||
4.422|1|18|01|4q31.3|FGB|C|Fibrinogen, beta polypeptide||134830|RE, REa, D, LD, A|4q31 by A; proximal to GYPB/GYPA||Dysfibrinogenemia, beta type (3); Afibrinogenemia, congenital,|202400 (3); Thrombophilia, dysfibrinogenemic (3) | ||
4.423|1|18|01|4q31.3|FGG|C|Fibrinogen, gamma polypeptide||134850|F, REa, H, RE, D, LD, A|linked to MN||Dysfibrinogenemia, gamma type (3); Hypofibrinogenemia, gamma|type (3); Thrombophilia, dysfibrinogenemic (3) | |3(Fgg)|
4.424|11|30|06|4q28.1|INTU, KIAA1284, PDZK6|C|Inturned, Drosophila, homolog of||610621|R, REc|||| | ||
4.425|8|2|13|4q31.21|SMAD1, MADH1, MADR1, BSP1|P|Mothers against decapentaplegic, Drosophila, homolog of, 1||601595|Psh|||| | ||
4.426|3|8|07|4q31.1|SETD7, SET7, KIAA1717|P|SET domain-containing protein 7||606594|R|||| | ||
4.427|12|21|87|4q26|FABP2|P|Fatty acid-binding protein, intestinal||134640|REa, A|||| | |3(Fabpi)|
4.428|2|28|13|4q31.21|GYPB, SS, MNS|C|Glycophorin B (includes Ss blood group)||111740|F, Fc, AAS, EM|||[Blood group, Ss] (3); {Malaria, resistance to}, 611162 (3)| | ||
4.429|4|30|91|4q31.21|GYPE, GPE|P|Glycophorin E||138590|REn, A|tandem: 5'-GYPA-GYPB-GYPE-3'; ?4q31.1||| | ||
4.430|3|2|98|4q31.1|MGST2, GST2|P|Microsomal glutathione S-transferase 2||601733|A|||| | ||
4.431|10|23|87|4q28-q31|SF|C|Stoltzfus blood group||111800|F|~25cM from MNSs||[Blood group, Stoltzfus system] (2)| | ||
4.432|2|17|09|4q31.21|HHIP, HIP|P|Hedgehog-interacting protein||606178|R, H|||| | |8(Hip)|
4.433|12|5|13|4q28.1|FAT4, VMLDS2|P|FAT tumor suppressor, Drosophila, homolog of, 4||612411|REc|||Van Maldergem syndrome 2, 615546 (3)| | ||
4.434|3|8|07|4q28.1|SLC25A31, ANT4, AAC4|P|Solute carrier family 25 (mitochondrial carrier, adenine nucleotide|translocator), member 31|610796|REc|||| | ||
4.435|5|16|11|4q28.1|SPATA5, SPAF|P|Spermatogenesis-associated protein 5||613940|REc|||| | ||
4.436|5|25|09|4q28.1|SPRY1|C|Sprouty, Drosophila, homolog of||602465|R, REc|||| | ||
4.437|1|5|12|4q28.2|MFSD8, MGC33302, CLN7|P|Major facilitator superfamily domain-containing protein 8||611124|REc, Fd|||Ceroid lipofuscinosis, neuronal, 7, 610951 (3)| | ||
4.438|5|26|13|4q28.2|PHF17, JADE1|P|PHD finger protein 17||610514|R, REc|||| | ||
4.439|5|26|13|4q28.2|SCLT1, CAP1A|P|Sodium channel and clathrin linker 1||611399|REc|||| | ||
4.440|7|6|07|4q31.21|GYPA, MN, GPA|C|Glycophorin A (includes MN blood group)||111300|F, Fc, AAS, EM, A, D, Fc|male lod = 3.79 at theta 0.32 vs. GC||[Blood group, MN] (3); {Malaria, resistance to}, 611162 (3)| | ||
4.441|6|4|99|4q31.1|NDUFC1|P|NADH-ubiquinone oxidoreductase 1, subcomplex C1||603844|R|||| | ||
4.442|11|2|04|4q31.1|MAML3, MAM2, KIAA1816|C|Mastermind-like 3||608991|R, REc|||| | ||
4.443|12|5|03|4q28.3|PCDH10, KIAA1400|P|Protocadherin 10||608286|R, REc|||| | ||
4.444|10|5|10|4q31|AAA2|P|Aortic aneurysm, familial abdominal 2||609782|Fd|max lod at D4S1644||Aortic aneurysm, familial abdominal 2 (2)| | ||
4.445|11|1|99|4q31.21|ABCE1, RNASELI, RNS4I|P|ATP-binding cassette, subfamily E, member 1|(ribonuclease L inhibitor)|601213|A|||| | ||
4.446|11|30|00|4q31|DFNB26|P|Deafness, autosomal recessive 26||605428|Fd|||Deafness, autosomal recessive 26 (2)| | ||
4.447|8|28|02|4q34.1|HMGB2, HMG2|P|High-mobility group box 2|(high-mobility group (nonhistone chromosomal) protein 2)|163906|A|||| | ||
4.448|6|13|95|4q31.21|IL15|P|Interleukin-15||600554|A|||| | ||
4.449|4|8|10|4q32.1|LRAT, LCA14|C|Lecithin retinol acyltransferase||604863|A|||Retinal dystrophy, early-onset severe, 613341 (3); Leber congenital|amaurosis 14, 613341 (3); Retinitis pigmentosa, juvenile, 613341 (3) | ||
4.450|2|20|97|4q32.1|NPY2R|P|Neuropeptide Y receptor Y2||162642|REa, A|||| | |3(Npy2r)|
4.451|12|5|03|4q28.3|PCDH18, KIAA1562|P|Protocadherin 18||608287|R, REc|||| | ||
4.452|5|5|09|4q31|STQTL12|P|Stature quantitative trait locus 12||612224|Fd|associated with rs6854783||{Stature QTL 12} (2)| | ||
4.453|5|26|05|4q31.1|UCP1|P|Uncoupling protein 1 (mitochondrial, proton carrier)||113730|A|||{Obesity, susceptibility to}, 601665 (3)| | |8(Ucp)|
4.454|2|18|98|4q32.2|NPY5R|C|Neuropeptide Y receptor Y5||602001|REa, REc, REn|||| | |8(Npy5r)|
4.455|10|2|89|4q32.1|TDO2, TPH2, TRPO|C|Tryptophan oxygenase||191070|REa, A|||| | ||
4.456|3|22|06|4q31-q34|PAND3|P|Panic disorder 3||609985|max lod at D4S413|||Panic disorder 3 (2)| | ||
4.457|7|21|03|4q31-q34|PSORS9|P|Psoraisis susceptibility 9||607857|Fd|max lod at D4S1597||{Psoraisis susceptibility 9} (2)| | ||
4.458|9|9|08|4q31.1|CCRN4L, CCR4L, CCR4|P|Carbon catabolite repression 4-like||608468|REc, H|||| | |3(Ccrn4l)|
4.459|3|11|09|4q31.1|ELMOD2|P|ELMO domain-containing protein 2||610196|REc|||| | ||
4.460|1|29|01|4q34.1|GALNT7|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 7|605005|REc|||| | ||
4.461|3|10|09|4q31.1|LOC152586|P|LOC152586 gene||610310|REc|||| | ||
4.462|6|24|13|4q31.1|NAA15, NARG1, NATH|P|N-alpha-acetyltransferase 15, NatA auxiliary subunit||608000|REc|||| | ||
4.463|7|7|00|4q31.23|NR3C2, MLR, MCR|C|Nuclear receptor subfamily 3, group C, member 2|(mineralocorticoid receptor; aldosterone receptor)|600983|REa, M, A|||Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3);|Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)| ||
4.464|5|3|13|4q31.1|RAB33B, SMC2|P|Ras-associated protein RAB33B||605950|REc|||Smith-McCort dysplasia 2, 615222 (3)| | ||
4.465|3|11|03|4q31.21|MMAA|P|MMAA gene||607481|REc|||Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)| | ||
4.466|1|12|99|4q31.21|SMARCA5, SNF2H|P|SWI/SNF-related, matrix-associated, actin-dependent regulator of|chromatin, subfamily A, member 5|603375|A|||| | ||
4.467|9|1|05|4q31.21|ZNF330, NOA36|P|Zinc finger protein 330||609550|A, REc|||| | ||
4.468|1|6|09|4q31.23|ARHGAP10, GRAF2, PSGAP|P|RHO GTPase-activating protein 10||609746|R, REc|||| | ||
4.469|2|28|94|4q31.22|BRN3B|P|Brn3b POU domain transcription factor||113725|REa, A|||| | ||
4.470|5|26|05|4q31.22|EDNRA|C|Endothelin receptor type A||131243|REa|||Migraine, resistance to, 157300 (3)| | ||
4.471|10|1|09|4q31.21|FREM3|P|FRAS1-related extracellular matrix protein 3||608946|REc|||| | ||
4.472|8|30|09|4q31.22|LSM6|P|LSM6 protein||607286|R, REc|||| | ||
4.473|1|22|08|4q31.21|OTUD4, KIAA1046, HIN1|P|OTD domain-containing protein 4||611744|REc|||| | ||
4.474|6|15|99|4q31.3|RPS3A|C|Ribosomal protein S3a||180478|REa, A, R|||| | ||
4.475|8|24|09|4q31.3|PLRG1, PRL1|P|Pleiotropic regulator 1||605961|R, REc|||| | ||
4.476|2|17|11|4q31.21|ANAPC10, DOC1, APC10|P|Anaphase-promoting complex, subunit 10||613745|REc|||| | |8(Anapc10)|
4.477|4|26|11|4q31.23|TMEM184C, TMEM34|C|Transmembrane protein 184C||613937|REc|||| | ||
4.478|12|21|09|4q31.2-q31.3|DCLK2, DCK2, CLIK2, CL2|P|Doublecortin-like kinase 2||613166|REc|||| | |3(Dclk2)|
4.479|10|13|09|4q31.3|DCHS2, CDHJ, PCDHJ|P|Dachsous, Drosophila, homolog of, 2||612486|REc, H|||| | |3(Dchs2)|
4.480|9|9|08|4q31.3|FBXW7, AGO, CDC4|P|F-box and WD40 domain protein 7||606278|R|||| | ||
4.481|5|10|12|4q32.1|GLRB, HKPX2|C|Glycine receptor, beta subunit||138492|A|||Hyperekplexia 2, autosomal recessive, 614619 (3)| | |3(Glrb)|
4.482|7|6|12|4q31.3|LRBA, LBA, CDC4L, CVID8|P|Lipopolysaccharide-responsive, biege-like anchor protein||606453|REc, R|||Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)| | ||
4.483|2|11|98|4q32.1|PPID|C|Peptidylprolyl isomerase D (cyclophilin D)||601753|REa, A|||| | ||
4.484|10|19|99|4q31.3|SFRP2, SARP1|C|Secreted frizzled-related protein 2||604157|REa, R, H|||| | |3(Sfrp2)|
4.485|12|13|06|4q31.3|SH3D19, EBP|P|SH3 domain protein 19||608674|REc, Ch|fused with AML1 in t(4;21)||| | ||
4.486|11|11|13|4q31.3|TRIM2, KIAA0517, CMT2R|C|Tripartite motif-containing protein 2||614141|R, REc|mutation identified in 1 family||?Charcot-Marie-Tooth disease, type 2R, 615490 (3)| | ||
4.487|6|10|94|4q32.2|NPY1R|P|Neuropeptide Y receptor||162641|A|||| | |8(Npy1r)|
4.488|12|18|07|4q31.3-q32.3|HSCR9|P|Hirschsprung disease, susceptibility to, 9||611644|Fd|between D4S3049 and D4S1566||{Hirschsprung disease, susceptibility to, 9} (2)| | ||
4.489|4|22|09|4q32.1|ASAP|P|Aster-associated protein||610070|REc|||| | ||
4.490|8|18|98|4q32.1|GUCY1A3, GUC1A3, GUCSA3|P|Guanylate cyclase 1, soluble, alpha 3||139396|A|||| | ||
4.491|8|18|98|4q32.1|GUCY1B3, GUC1B3, GUCSB3|P|Guanylate cyclase 1, soluble, beta 3||139397|A|||| | ||
4.492|2|4|02|4q32.1|LGR7|P|Leucine-rich repeat-containing G protein-coupled receptor-7||606654|A|||| | ||
4.493|2|16|04|4q32.1|PDGFC|P|Platelet-derived growth factor C||608452|R, REc|||| | ||
4.494|4|5|13|4q31.3|TLR2, TIL4|C|Toll-like receptor-2||603028|A|||{Leprosy, susceptibility to}, 246300 (3); {Colorectal cancer,|susceptibility to}, 114500 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)| ||
4.495|2|21|10|4q34.3|AGA|C|Aspartylglucosaminidase||613228|S, F, D, A|||Aspartylglucosaminuria, 208400 (3)| | |8(Aga)|
4.496|11|30|06|4p15.33|CPEB2|P|Cytoplasmic polyadenylation element-binding protein 2||610605|REc|||| | |5(Cpeb2)|
4.497|3|1|94|4q32.1|GRIA2, GLUR2|C|Glutamate receptor, ionotropic, AMPA 2||138247|Psh, A|||| | |3(Glur2)|
4.498|10|15|09|4q32.3|TLL1, TLL, ASD6|P|Tolloid-like 1||606742|A|||Atrial septal defect 6, 613087 (3)| | |8(Tll1)|
4.499|7|31|08|4q32-q34|RP29|P|Retinitis pigmentosa 29||612165|Fd|maximum lod at D4S415||Retinitis pigmentosa 29 (2)| | ||
4.500|2|28|03|4q32.3|SC4MOL, ERG25|P|Sterol C4-methyloxidase-like||607545|A|||| | ||
4.501|8|25|03|4q32.1|ETFDH, MADD|C|Electron transfer flavoprotein:ubiquinone oxidoreductase||231675|REa, A|||Glutaric acidemia IIC, 231680 (3)| | |3(Etfdh)|
4.502|10|2|12|4q32.1|CTSO|P|Cathepsin O||600550|REc|||| | ||
4.503|5|19|09|4q32.1|FNIP2, FNIPL, KIAA1450|C|Folliculin-interacting protein 2||612768|R, REc|||| | ||
4.504|1|27|11|4q32.1-q32.2|TRIP4q32.1q32.2, C4TRIPq32.1q32.2|P|Chromosome 4q32.1-q32.2 triplication syndrome||613603|Ch|||Chromosome 4q32.1-q32.2 triplication syndrome (4)| | ||
4.505|1|28|08|4q33|AADAT, KAT2|C|Alpha-aminoadipate aminotransferase||611754|A, REc, H|||| | |8(Aadat)|
4.506|6|7|10|4q32.2-q32.3|MARCH1|P|Membrane-associated RING-CH finger protein 1||613331|REc|||| | ||
4.507|8|30|09|4q32.3|ANP32C, PP32R1|P|Acidic leucine-rich nuclear phosphoprotein 32 family, member C||606877|Psh, REc|||| | ||
4.508|8|30|07|4q32.3|CINN|P|Cinnamon odor, pleasantness of||611109|Fd|max lod at AFM295YES||[Cinnamon odor, pleasantness of] (2)| | ||
4.509|8|30|09|4q32.3|CPE|P|Carboxypeptidase E||114855|REa, H, REc|||| | |8(Cpe)|
4.510|6|11|11|4q32.3|DDX60|P|DEAD box polypeptide 60||613974|REc|||| | ||
4.511|12|17|07|4q32.3|HDLCQ4|P|High density lipoprotein cholesterol level QTL 4||610239|Fd|between D4S1597 and D4S1539||[High density lipoprotein cholesterol level QTL 4] (2)| | ||
4.512|1|9|07|4q32.3|PALLD, KIAA0992, PNCA1|C|Palladin, mouse, homolog of||608092|R, REc, Fd|||{Pancreatic cancer, susceptibility to, 1}, 606856 (3)| | ||
4.513|1|11|07|4q32.3|SPOCK3|P|SPARC/osteonectin, CWCV, and KAZAL-like domains proteoglycan 3||607989|REc|||| | ||
4.514|1|12|07|4q32.3|ANXA10|P|Annexin A10||608008|A|||| | |8(Anxa10)|
4.515|4|8|98|4q33|CLCN3|C|Chloride channel-3||600580|REc, Fd, A|||| | |8(Clcn3)|
4.516|11|10|05|4q34.1|HAND2, DHAND2, DHAND|P|Heart- and neural crest derivative-expressed 2||602407|R|||| | ||
4.517|2|21|13|4q33|NEK1, SRPS2A|P|Never in mitosis gene A-related kinase 1||604588|REc|||Short rib-polydactyly syndrome, type IIA, 263520 (3)| | ||
4.518|10|20|98|4q34.1|GLRA3|P|Glycine receptor, alpha-3 polypeptide||600421|A|||| | |8(Glra3)|
4.519|4|3|03|4q34.1|MORF4, SEN1, CSRB|P|Mortality factor 4|(senescence-related, cellular, 1)|116960|M, A|||| | ||
4.520|10|7|02|4q33-qter|HCA1|P|Hypercalciuria, absorptive, 1||607258|Ch|||Hypercalciuria, absorptive (2)| | ||
4.521|1|29|01|4q34.1|ADAM29|C|A disintegrin and metalloproteinase domain 29||604778|R|||| | ||
4.522|9|28|96|4q34.2|GPM6A, M6A|C|Glycoprotein M6A||601275|A|||| | ||
4.523|11|2|04|4q34.2|WDR17|P|WD repeat-containing protein 17||609005|A|||| | ||
4.524|4|20|10|4q34.3-q35.1|SCA30|L|Spinocerebellar ataxia 30||613371|Fd|between rs1397413 and rs2175476; max lod 3.0||?Spinocerebellar ataxia 30 (2)| | ||
4.525|10|16|12|4q34.3-q35.2|HMSN5|P|Hereditary motor and sensory neuropathy V||600361|Fd|D4S1552 and D4S2930||Hereditary motor and sensory neuropathy V (2)| | ||
4.526|9|18|08|4q35.1|ACSL1, FACL2, FACL1, LACS, ACS1|C|Acyl-CoA synthetase long-chain family member 1||152425|REb, A|||| | ||
4.527|2|18|96|4q35.2|FAT1, FAT|P|FAT tumor suppressor, Drosophila, homolog of, 1||600976|A|||| | ||
4.528|1|24|12|4q34.1|HPGD, PGDH1, PHOAR1|P|Hydroxyprostaglandin dehydrogenase 15-(NAD)||601688|REa, A|||Cranioosteoarthropathy, 259100 (3); Hypertrophic osteoarthropathy,|primary, autosomal recessive 1, 259100 (3); Digital clubbing, isolated congenital, 119900 (3)| ||
4.529|9|9|08|4q34.1|FBXO8, FBX8, FBS|P|F-box only protein 8||605649|REc|||| | |8(Fbxo8)|
4.530|4|6|13|4q34.1|GALNTL6, GALNACT20|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase-like 6|615138|REc|||| | ||
4.531|7|20|12|4q34.1|SAP30|P|SIN3-associated polypeptide, 30kD||603378|REc|||| | ||
4.532|8|16|12|4q34.1|SCRG1|P|Scraptie-responsive gene 1||603163|REc|||| | ||
4.533|3|22|06|4q34.2|SPATA4, TSARG2|P|Spermatogenesis-associated protein 4||609879|REc|||| | ||
4.534|1|31|13|4q34.2|ASB5|P|Ankyrin repeat- and SOCS box-containing protein 5||615050|REc|||| | ||
4.535|5|7|01|4q35.1|ALP|P|Actinin-associated LIM protein||605889|A|||| | ||
4.536|4|21|99|4q35|BHD, BFHD|P|Beukes familial hip dysplasia||142669|Fd|||Hip dysplasia, Beukes type (2)| | ||
4.537|5|8|97|4q35.1|CASP3, CPP32|P|Caspase 3, apoptosis-related cysteine protease||600636|A, REc|||| | ||
4.538|10|25|12|4q35|DBET|P|D4A4 binding element transcript, noncoding||614865|REc|||| | ||
4.539|3|19|03|4q35.1|DCTD|P|Deoxycytidylate deaminase||607638|A|||| | ||
4.540|3|22|01|4q35|DKBI|P|Dyskeratosis, hereditary benign intraepithelial||127600|Fd|||Dyskeratosis, hereditary benign intraepithelial (2)| | ||
4.541|6|18|01|4q35.2|DUX4|P|Double homeo box protein 4||606009|REc|||| | ||
4.542|12|27|13|4q35.2|DUX4L9, DUX4C|P|Double homeobox 4-like 9||615581|REc|||| | ||
4.543|12|22|08|4q35.2|F11|C|Coagulation factor XI (plasma thromboplastin antecedent)||264900|A, H, Fd|not closely linked to MNS||Factor XI deficiency, autosomal recessive, 612416 (3); Factor XI|deficiency, autosomal dominant, 612416 (3) | |8(cf11)|
4.544|8|18|98|4q35.2|FRG1, FSG1|P|Facioscapulohumeral muscular dystrophy region gene-1||601278|REn|||| | ||
4.545|11|22|05|4q35.2|FRG2|P|Facioscapulohumeral muscular dystrophy region gene 2||609032|REn|||| | ||
4.546|7|19|04|4q35|FSHD1, FSHD1A|C|Facioscapulohumeral muscular dystrophy 1||158900|Fd, REc|due to D4Z4 macrosatellite repeat on 4q35||Facioscapulohumeral muscular dystrophy 1 (4)| | |?8(myd)|
4.547|12|4|08|4q35.2|KLKB1, KLK3|P|Kallikrein B plasma 1 (Fletcher factor)||229000|A|similar to F11||Fletcher factor deficiency, 612423 (3)| | |8(Kal3)|
4.548|10|7|13|4q35.1|SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12|C|Solute carrier family 25 (mitochondrial carrier) member 4|(adenine nucleotide translocator-1, skeletal muscle)|103220|REa, REb, A, Fd|||Progressive external ophthalmoplegia with mitochondrial DNA|deletions 3, 609283 (3); Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 (3)| |8(Ant1)|
4.549|4|3|13|4q35.1|TLR3, IIAE2|P|Toll-like receptor-3||603029|A|||{Herpes simplex encephalitis, susceptibility to, 2} 613002 (3);|{HIV1 infection, resistance to}, 609423 (3) | ||
4.550|9|27|01|4q35-qter|DFNA24|P|Deafness, autosomal dominant 24||606282|Fd|||Deafness, autosomal dominant 24 (2)| | ||
4.551|9|23|13|4q35.1|CCDC111, MYP22|P|Coiled-coil domain containing 111||615421|REc|||Myopia 22, autosomal dominant, 615420 (3)| | ||
4.552|5|31|05|4q35.2|CYP4V2, BCD|C|Cytochrome P450, family 4, subfamily V, poypeptide 2||608614|Fd, REc|||Bietti crystalline corneoretinal dystrophy, 210370 (3)| | ||
4.553|3|2|06|4q35.1|ING2, ING1L|P|Inhibitor of growth 2||604215|A, R|||| | ||
4.554|11|4|93|4q35.1|IRF2|P|Interferon regulatory factor-2||147576|A|||| | ||
4.555|8|1|05|4q35.1|KMHN1|P|Cancer/testis antigen KM-HN-1||609488|REc|||| | ||
4.556|10|8|07|4q35.1|MLF1IP, CENPU, CENP50|P|MLF1-interacting protein (centromere protein U)||611511|REc, H|||| | |8(Mlf1ip)|
4.557|10|22|95|4q35.2|MTNR1A|P|Melatonin receptor 1A||600665|REa, Psh|||| | |8(Mtnr1a)|
4.558|4|8|13|4q34.3-q35.1|ODZ3, TNM3, KIAA1455, MCOPCB9|P|ODZ, Drosophila, homolog of, 3||610083|REc, R|||Microphthalmia, isolated, with coloboma 9, 615145 (3)| | ||
4.559|8|7|13|4q35.1|TRAPPC11, C4orf41, LGMD2S|P|Trafficking protein particle complex, subunit 11||614138|REc|||Muscular dystrophy, limb-girdle, type 2S, 615356 (3)| | ||
4.560|10|13|09|4q35.1|UFSP2, C4orf20|P|UFM1-specific protease 2||611482|REc|||| | ||
4.561|10|2|12|4q35.2|DUX2|P|Double homeobox protein 2||611442|REc|?10q26.3||| | ||
4.562|4|19|12|4q35.2|ZFP42, REX1|P|Zinc finger protein 42||614572|REc, H|||| | |8(Zfp42)|
4.563|1|7|14|4q32.3|ELA, LOC100506013|P|Elabela||615594|REc|||| | ||
4.564|1|9|94|Chr.4|LAG5|P|Leukocyte antigen group 5||151450|S|||Neutropenia, neonatal alloimmune (1)| | ||
4.565|12|21|09|4p16.1|MIR95, MIRN95|P|Micro RNA 95||613185|REc|||| | ||
4.566|10|23|87|Chr.4|TS13|P|Temperature sensitivity complementation, ts13||187320|S|||| | ||
5.1|5|31|05|5p15.33|NDUFS6|P|NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kD||603848|R|||Complex I, mitochondrial respiratory chain, deficiency of, 252010 (3)| | ||
5.2|10|23|87|5q34|RARS|P|Arginyl-tRNA synthetase||107820|S|very close to LARS||| | ||
5.3|1|11|93|5p15.31|ADCY2|C|Adenylyl cyclase-2, brain||103071|A, REa|||| | |13(Adcy2)|
5.4|12|27|01|5p15.33|AHRR, KIAA1234|C|Arylhydrocarbon receptor repressor||606517|R, A|||| | |13(Ahrr)|
5.5|8|17|01|5p15.33|IRX1|P|Iroquois homeo box protein 1||606197|A|||| | ||
5.6|8|17|01|5p15.33|IRX2|P|Iroquois homeo box protein 2||606198|A|||| | ||
5.7|7|3|06|5p15.33|IRX4|P|Iroquois homeobox protein 4||606199|REa, R, H|||| | |13(Irx4)|
5.8|3|5|08|5p15.33|MRPL36|P|Mitochondrial ribosomal protein L36||611842|REc|||| | ||
5.9|5|12|00|5p15.33|SLC12A7, KCC4|P|Solute carrier family 12 (potassium/chloride transporters), member 7||604879|R, REa|||| | ||
5.10|1|31|13|5p15.33|SLC6A3, DAT1, PKDYS|C|Solute carrier family 6 (neurotransmitter transporter, dopamine),|member 3|126455|Psh, A, Fd|||{Nicotine dependence, protection against}, 188890 (3);|Parkinsonism-dystonia, infantile, 613135 (3) | |13(Dat1)|
5.11|3|28|95|5p15.33|SLC9A3, NHE3|C|Solute carrier family 9 (sodium/hydrogen exchanger), member 3||182307|REa, Fd|pseudogene on chr.10||| | |13(Slc9a3)|
5.12|7|22|09|5p15.33|TPPP, P25, P24|P|Tubulin polymerization-promoting protein||608773|Psh, R|||| | ||
5.13|10|6|09|5p15.33|BCC3|P|Basal cell carcinoma, susceptibility to, 3||613059|Fd|||{Basal cell carcinoma, susceptibility to, 3} (2)| | ||
5.14|5|26|13|5p15.33|CEI|P|Coordinated expression to IRXA2||610522|REc|||| | ||
5.15|2|17|09|5p15.33|CLPTM1L, CRR9|P|CLPTM1-like protein||612585|REc|||| | ||
5.16|9|8|11|5p15.33|EXOC3, SEC6|P|Exocyst complex component 3||608186|REc|||| | ||
5.17|11|26|09|5p15.33|GLM8|P|Glioma susceptibility 8||613033|Fd|associated with rs2736100||{Glioma susceptibility 8} (2)| | ||
5.18|2|18|09|5p15.33|LNCR3|P|Lung cancer susceptibility 3||612571|Fd|associated with rs402710 and rs2736100||{Lung cancer susceptibility 3} (2)| | ||
5.19|9|9|09|5p15.33|SLC6A18, XTRP2|P|Solute carrier family 6 (neurotransmitter transporter), member 18||610300|REc|||| | ||
5.20|4|20|10|5p15.33|SLC6A19, HND|C|Solute carrier family 6 (neurotransmitter transporter), member 19||608893|REc, Fd|||Hartnup disorder, 234500 (3); Iminoglycinuria, digenic, 242600 (3);|Hyperglycinuria, 138500 (3) | |13(Slc6a19)|
5.21|4|6|13|5p15.33|TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9|C|Telomerase reverse transcriptase||187270|R, D|deleted in cri du chat||{Bone marrow failure, telomere-related, 1}, 614742 (3); {Dyskeratosis|congenita, autosomal recessive 4}, 613989 (3); {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3); {Coronary artery disease} (3);|{Pulmonary fibrosis, telomere-related, 1}, 614742 (3); {Leukemia, acute myeloid}, 601626 (3); {Melanoma, cutaneous malignant, 9}, 615134 (3)||
5.22|1|27|09|5p15.33-p15.2|MYP16|P|Myopia 16||612554|Fd|max lod at D5S2505||Myopia 16 (2)| | ||
5.23|8|29|08|5p15.33-p13.1|MCDR3|P|Macular dystrophy, retinal, 3||608850|Fd|maximum lod at D5S630||Macular dystrophy, retinal, 3 (2)| | ||
5.24|10|30|08|5p15.31|MED10, NUT2|P|Mediator complex subunit 10||612382|REc|||| | ||
5.25|6|7|12|5p15.31|NSUN2, TRM4, SAKI, MISU, MRT5|P|NOL1/NOP2/SUN domain family, member 2||610916|REc|||Mental retardation, autosomal recessive 5, 611091 (3)| | |13(Nsun2)|
5.26|12|19|11|5p15.31-p15.1|FAME3, FCMTE3|P|Epilepsy, myoclonic, familial adult, 3||613608|Fd|between D5S580 and D5S2096||Epilepsy, myoclonic, familial adult, 3 (2)| | ||
5.27|7|31|06|5p15.31|MTRR|P|Methionine synthase reductase||602568|Psh, A|||Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3);|{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) | ||
5.28|5|30|06|5p15.2|CCT5, KIAA0098, CCTE|P|chaperonin containing TCP1, subunit 5 (epsilon)||610150|REc, Fd|||Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)| | ||
5.29|4|26|10|5p15.2|CMBL|P|Carboxymehtylenebutenolidase-like protein||613379|REc|||| | |15(Cmbl)|
5.30|4|6|00|5p15.2|CTNND2, NPRAP|P|Catenin, delta-2||604275|Psh, A|||Mental retardation in cri-du-chat syndrome, 123450 (2)| | ||
5.31|1|4|96|5p15.2|DAP|P|Death-associated protein||600954|REa|||| | ||
5.32|3|16|10|5p15.2|MARCH6, TEB4, DOA10, KIAA0597|C|Membrane-associated RING-CH finger protein 6||613297|REc|||| | ||
5.33|1|28|08|5p15.2|ROPN1L, ASP|P|ROPN1-like protein||611756|R, REc|||| | ||
5.34|10|14|09|5p15.31|SEMA5A, SEMF|P|Semaphorin 5a||609297|REc|||| | |15(Sema5a)|
5.35|7|1|02|5p14.3|CDH18, CDH14|P|Cadherin 18||603019|R, Fd|||| | ||
5.36|2|17|09|5p15.2-p14|ADIPQTL2, CAQ5|P|Adiponectin, serum level of, QTL 2||606770|Fd|near D5S817||{Adiponectin, serum level of, QTL2} (2)| | ||
5.37|11|2|02|5p15.2|ANKH, HANK, ANK, CMDJ, CCAL2, CPPDD|C|Ank, mouse, homolog of||605145|R, Fd|||Craniometaphyseal dysplasia, 123000 (3); Chondrocalcinosis 2,|118600 (3) | |15(ank)|
5.38|7|14|06|5p15.2-p14.3|ANIB4|P|Aneurysm, intracranial berry, 4||610213|Fd|max lod at D5S1954||Aneurysm, intracranial berry, 4 (2)| | ||
5.39|8|31|09|5q11.2|CCNO, UNG2|P|Cyclin O||607752|Psh, REc|||| | ||
5.40|10|8|07|5q12.3|CEMPK, SOLT|P|Centromeric protein K||611502|REc|||| | ||
5.41|11|13|09|5p15.1|FAM134B, HSAN2B|P|Family with sequence similarity 134, member B||613114|REc|||Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)| | ||
5.42|8|31|09|5p15.1|FBXL7, FBL7|C|F-box and leucine-rich repeat protein 7||605656|R, REc|||| | |15(Fbxl7)|
5.43|6|7|10|5p15.1|MARCH11|P|Membrane-associated RING-CH finger protein 11||613338|REc|||| | ||
5.44|10|31|13|5p15.1|PVNH3|P|Periventricular nodular heterotopia 3||608098|A, Ch|||Periventricular nodular heterotopia 3 (2)| | ||
5.45|5|7|01|5p15.1|BASP1, CAP23, NAP22|P|Brain-abundant signal protein, membrane-attached, 1||605940|A|||| | ||
5.46|7|1|02|5p13.3|CDH6|P|Cadherin 6||603007|R, Fd|||| | ||
5.47|6|30|05|5p13.2|RLN3R1, SALPR, GPCR135|P|Relaxin 3 receptor 1||609445|R|||| | ||
5.48|8|5|97|5p15.2|TRIO|P|Triple functional domain(PTPRF interacting)||601893|A|||| | ||
5.49|11|12|96|5p15.1|MYO10|P|Myosin X||601481|A|||| | |15(Myo10)|
5.50|6|11|11|5p15.1-p13.3|MYP19|P|Myopia 19, autosomal dominant||613969|Fd|highest lod at D5S419||Myopia 19 (2)| | ||
5.51|4|3|09|5p15.32|ADAMTS16|P|A disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 16|607510|REc|||| | ||
5.52|9|27|01|5p15.31|POLS, TRF4, POLK|P|Polymerase, DNA, sigma||605198|REc|||| | ||
5.53|8|25|11|5p15.33|SDHA, SDH1, SDHF, CMD1GG, PGL5|C|Succinate dehydrogenase complex, subunit A, flavoprotein||600857|A|copy on 3q29||Leigh syndrome, 256000 (3); Mitochondrial respiratory chain complex|II deficiency, 252011 (3); Cardiomyopathy, dilated, 1GG, 613642 (3); Paragangliomas 5, 614165 (3)| ||
5.54|12|9|91|5p15.31|SRD5A1|P|Steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid|delta 4-dehydrogenase alpha 1)|184753|REa, A|pseudogene on X||| | |13(Srd5a1)|
5.55|4|5|00|5p15.31|TRB7, T2R1|P|Taste receptor, family B, member 7||604796|REc|||| | |15(T2R19)|
5.56|11|22|10|5p15|TST2|P|Tuberculin skin test reactivity quantative trait locus||613637|Fd|max lod at 16:2.70Mb||[Tuberculin skin test reactivity QTL] (2)| | ||
5.57|12|4|08|5p15.2|DNAH5, HL1, PCD, CILD3|C|Dynein, axonemal, heavy chain 5||603335|REn, Fd|||Ciliary dyskinesia, primary, 3, with or without situs inversus,|608644 (3) | |15(Dnahc5)|
5.58|3|24|06|5p14.1|CDH9|P|Cadherin 9||609974|REc|||| | ||
5.59|8|15|90|5p14|MLVI2|P|Moloney leukemia virus integration site-2||157960|REa, A|||| | |15(Mlvi2)|
5.60|3|18|94|5p14.3|PMCHL1|P|Pro-melanin-concentrating hormone-like 1||176793|REa, A|||| | ||
5.61|2|18|10|5p14.2|PRDM9|P|PR domain-containing protein 9||609760|REc|||| | ||
5.62|3|8|00|5p14.2-p14.1|CDH10|P|Cadherin 10||604555|A|||| | ||
5.63|9|14|95|5p14.3|CDH12, CDHB|P|Cadherin-12 (N-cadherin 2)||600562|A|pseudogene on 5q13 in SMA region||| | ||
5.64|10|23|87|5p12|HMGCS1|C|3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1||142940|S, REa, A|like HMGCR, regulated transcriptionally by steroid||| | ||
5.65|11|9|05|5p13.3|RNASEN, DROSHA, RANSE3L, RN3|P|Ribonuclease III, nuclear||608828|A|||| | |15(Rnasen)|
5.66|1|1|96|5p13.3|NPR3, ANPRC|P|Natriuretic peptide receptor C||108962|REa, A|||?Hypertension, salt-resistant (1)| | ||
5.67|9|2|08|5p13.3|GOLPH3, GPP34, MIDAS|P|Golgi phosphoprotein 3||612207|R, REc|||| | ||
5.68|8|31|09|5p13.3|MTMR12, 3PAP, KIAA1682|P|Myotubularin-related protein 12||606501|R, REa, REc|||| | ||
5.69|8|9|13|5p13.2|SLC45A2, MATP, AIM1, SHEP5, OCA4|P|Solute carrier family 45, member 2||606202|REc|||Albinism, oculocutaneous, type IV, 606574 (3); [Skin/hair/eye|pigmentation 5, black/nonblack hair], 227240 (3); [Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3); [Skin/hair/eye pigmentation 5, dark/light|eyes], 227240 (3) ||
5.70|10|2|12|5p13.3|SUB1, PC4, p15|P|Sub1, S. cerevisiae, homolog of||600503|REc|||| | ||
5.71|6|3|02|5p13.3-p13.2|BDA1B|P|Brachydactyly, type A1, locus B||607004|Fd|||Brachydactyly, type A1, 112500 (2)| | ||
5.72|12|10|98|5p13.2|RAD1|P|RAD1, S. pombe, homolog of||603153|A|||| | ||
5.73|12|27|01|5p13.2|RAI14, KIAA1334|P|Retinoic acid-induced 14||606586|REa, A|||| | ||
5.74|5|4|12|5p13.2|C5orf42, JBTS17|P|Chromosome 5 open reading frame 42||614571|REc|||Joubert syndrome 17, 614615 (3)| | ||
5.75|2|23|09|5p13.2|MS3|P|Multiple sclerosis, susceptibility to, 3||612595|Fd|associated with rs6897932||{Multiple sclerosis, susceptibility to, 3} (2)| | ||
5.76|1|17|07|5p13.3|PDZD2, PAPIN, PIN1, AIPC|C|PDZ domain containing 2||610697|R, REc|||| | ||
5.77|12|27|13|5p13.2|PRLR, MFAB, HPRL|P|Prolactin receptor||176761|REa, A, REc|mutation identified in 1 family with HPRL||Multiple fibroadenomas of the breast, 615554 (3);|?Hyperprolactinemia, 615555 (3) | ||
5.78|8|19|13|5p13.2|SPEF2, KPL2, KIAA1770|P|Sperm flagellar 2||610172|Psh, REc|||| | ||
5.79|10|26|11|5p13.2|AMACR, CBAS4, AMACRD|P|Alpha-methylacyl-CoA racemase||604489|TM|||Alpha-methylacyl-CoA racemase deficiency, 614307 (3);|Bile acid synthesis defect, congenital, 4, 214950 (3) | ||
5.80|9|24|08|5p13.1|IBD18|P|Inflammatory bowel disease 18||612262|Fd|associated with rs1373692||{Inflammatory bowel disease 18} (2)| | ||
5.81|2|10|04|5p13.1|LIFR, STWS, SWS, SJS2|C|Leukemia inhibitory factor receptor||151443|REa, Fd|||Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)| | |15(Lifr)|
5.82|2|26|08|5p13.1|OSMR, OSMRB, PLCA1|C|Oncostatin M receptor||601743|REc, Fd|||Amyloidosis, primary localized cutaneous, 1, 105250 (3)| | ||
5.83|5|19|04|5p13.2|NIPBL, CDLS1|C|Nipped-B-like (delangin)||608667|Ch, REc|||Cornelia de Lange syndrome 1, 122470 (3)| | |15(Nipbl)|Wilson (1983)
5.84|12|14|99|5p13.1|PTGER4|P|Prostaglandin E receptor 4, EP4 subtype||601586|A|||| | ||
5.85|3|23|06|5p13.1|CARD6, CINCIN1|C|Caspase recruitment domain-containing protein 6||609986|REc, H|||| | |15(Card6)|
5.86|1|25|11|5p13.2|GDNF, HSCR3|C|Glial cell line derived neurotrophic factor||600837|A, Psh|||Central hypoventilation syndrome, 209880 (3); {Pheochromocytoma,|modifier of}, 171300 (3); {Hirschsprung disease, susceptibility to, 3}, 613711 (3)| ||
5.87|7|20|12|5p12|NNT, GCCD4|P|Nicotinamide nucleotide transhydrogenase||607878|A|||Glucocorticoid deficiency 4, 614736 (3)| | |13(Nnt)|
5.88|9|22|04|5p13|ADHD4|P|Attention deficit-hyperactivity disorder, susceptibility to, 4||608906|Fd|||{Attention deficit-hyperactivity disorder}, 143465 (2)| | ||
5.89|12|17|08|5p13.2|AGXT2, AGT2|P|Alanine-glyoxylate aminotransferase 2||612471|REc|||| | ||
5.90|6|9|08|5p13.2|C1ATNF3, CTRP3, CORS26|P|C1q- and tumor necrosis factor-related protein 3||612045|A, H|||| | |15(C1qtnf3)|
5.91|12|4|08|5p13.1|C6|C|Complement component-6||217050|A, H, RE, Fd, LD|||C6 deficiency, 612446 (3); Combined C6/C7 deficiency (3)| | |15(C6)|
5.92|7|3|06|5p13.1|C7|C|Complement component-7||217070|A, H, RE, Fd, LD|||C7 deficiency, 610102 (3)| | |15(C7)|
5.93|1|7|14|5p13.1|C9, C9D, ARMD15|C|Complement component-9||120940|REa, A, Fd, LD|||C9 deficiency, 613825 (3); Macular degeneration, age-related,|15, suscepbitility to, 615591 (3) | ||
5.94|12|18|98|5p13.1|DAB2, DOC2|P|Disabled, Drosophila, homolog of, 2 (differentially expressed in|ovarian cancer-2)|601236|A, REa|||| | ||
5.95|2|16|10|5p13|DUP5p13, C5DUPp13|P|Chromosome 5p13 duplication syndrome||613174|Ch|||Chromosome 5p13 duplication syndrome (4)| | ||
5.96|1|20|09|5p13.2|IL7R, IL7RA, CD127|C|Interleukin-7 receptor||146661|REa, A|||Severe combined immunodeficiency, T-cell negative, B-cell/natural|killer cell-positive type, 608971 (3) | ||
5.97|7|3|06|5p13|KYPSC1|P|Kyphoscoliosis 1||610170|Fd|||Kyphoscoliosis 1 (2)| | ||
5.98|2|20|02|5p13.2|NUP155, KIAA0791|C|Nucleoporin, 155kD||606694|A, R|||| | ||
5.99|8|25|06|5p13.1|OXCT1, OXCT, SCOT|C|3-oxoacid CoA transferase 1||601424|A|||Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)| | ||
5.100|9|23|96|5p13.2|SKP2|P|S-phase kinase-associated protein 2 (p45)||601436|A|||| | ||
5.101|3|31|09|5p13.2|SLC1A3, EAAT1, EA6|C|Solute carrier family 1 (glial high affinity glutamate transporter),|member 3|600111|A|||Episodic ataxia, type 6, 612656 (3)| | |15(Eaat1)|
5.102|5|2|06|5p12|FGF10|C|Fibroblast growth factor-10||602115|A|||Aplasia of lacrimal and salivary glands, 180920 (3); LADD syndrome,|149730 (3) | ||
5.103|7|16|09|5p13-p12|GHR|C|Growth hormone receptor||600946|REa, A|||Laron dwarfism, 262500 (3); Short stature, 604271 (3);|{Hypercholesterolemia, familial, modification of}, 143890 (3); Increased responsiveness to growth hormone (3)| |15(Ghr)|
5.104|10|23|87|5p13.3|TARS|P|Threonyl-tRNA synthetase||187790|S|linked to LARS||| | ||
5.105|7|18|06|5p13-q12|HYT6|P|Hypertension, essential, susceptibility to, 6||610262|Fd|||{Hypertension, essential, susceptibility to, 6}, 145500 (2)| | ||
5.106|5|24|13|5p12|ANXA2R, C5orf39, AX2R, AXIIR|P|Annexin A2 receptor||611296|Psh|||| | ||
5.107|9|9|08|5p12|CCL28|P|Chemokine, C-C motif, ligand 28||605240|REc|||| | |13(Ccl28)|
5.108|9|9|08|5p13.1|FBXO4, FBX4|C|F-box only protein 4||609090|A, REc|||| | |15(Fbxo4)|
5.109|8|20|07|5p12|PAIP1|P|Polyadenylate-binding protein-interacting protein 1||605184|REc|||| | ||
5.110|11|20|98|5p13.1|PRKAA1|P|Protein kinase, AMP-activated, catalytic, alpha-1||602739|A|||| | ||
5.111|5|4|00|5p12|ZNF131|P|Zinc finger protein -31||604073|A|||| | ||
5.112|4|24|08|5p12|MRPS30|P|Mitochondrial ribosomal protein S30||611991|R, REc|||| | ||
5.113|5|30|03|5p12|SEPP1|P|Selenoprotein P, plasma, 1||601484|REa, A, R|||| | ||
5.114|9|12|08|5p|ASD1|P|Atrial septal defect 1||108800|Fd|max lod at D5S406||Atrial septal defect 1 (2)| | ||
5.115|8|4|97|5p|MHS6|P|Malignant hyperthermia susceptibility 6||601888|Fd|||{Malignant hyperthermia susceptibility 6} (2)| | ||
5.116|10|20|99|5p13.1|RPL37|P|Ribosomal protein L37||604181|REa, R|||| | ||
5.117|5|19|06|5q|BSZQTL2|P|Bone size quantitative trait locus 2||609657|Fd|||{Bone size QTL} (2)| | ||
5.118|3|5|95|5q11.1|ISL1|P|ISL1 transcription factor, LIM/homeodomain (islet-1)||600366|Fd|between D5S395 and D5S407; proximal 5q||| | ||
5.119|10|2|09|5q35.3|PROP1, CPHD2|P|Prophet of Pit1, paired-like homeodomain transcription factor||601538|H, R|||Pituitary hormone deficiency, combined, 2, 262600 (3)| | |11(df, Prop1)|
5.120|5|6|13|5q11.2|ANKRD55|P|Ankyrin repeat domain-containing protein 55||615189|REc|||| | ||
5.121|10|1|95|5q11.2|IL6ST|C|Interleukin-6 signal transducer (gp130, oncostatin M receptor)||600694|A|||| | ||
5.122|11|4|13|5q11.2|MOCS2, MPTS, MOCODB|P|Molybdenum cofactor synthesis-2||603708|R|||Molybdenum cofactor deficiency B, 252160 (3)| | ||
5.123|8|13|98|5q11.2|GZMA, CTLA3, HFSP|C|Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3;|Hanukah factor serine protease)|140050|REa|||| | |13(Ctla3)|
5.124|10|22|96|5q14.1|MSH3|P|mutS, E. coli, homolog of, 3||600887|REn|5' to DHFR||Endometrial carcinoma (3)| | |13(Msh3)|
5.125|2|1|11|5q14.1|ARSB, MPS6|C|Arylsulfatase B||611542|S|||Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)| | |13(As1)|
5.126|11|16|00|5q13.3|IQGAP2|P|IQ motif-containing GTPase-activating protein-2||605401|Psh|||| | ||
5.127|7|3|01|5q11.2|NDUFS4, AQDQ|P|NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kD (NADH-coenzyme Q|reductase)|602694|REa, R|||Leigh syndrome, 256000 (3); Mitochondrial complex I deficiency,|252010 (3) | ||
5.128|10|4|12|5q11.2|ACTBL2|P|Actin, beta-like, 2||614835|REc|||| | ||
5.129|4|30|09|5q11.2|DHX29|P|DEAH (Asp-Glu-Ala-His) box polypeptide 29||612720|REc|||| | ||
5.130|2|20|01|5q11.2|FST, FS|P|Follistatin||136470|A|||| | ||
5.131|8|18|08|5q11.2|GPBP1, GPBP|P|GC-rich promotor-binding protein 1||608412|REc|||| | ||
5.132|5|4|10|5q11.2|HSPB3, HSPL27, HMN2C, DHMN2C|P|Heat-shock 27kD protein 3||604624|A|||Neuronopathy, distal hereditary motor, type IIC, 613376 (3)| | ||
5.133|7|22|11|5q11.2|IDAS|P|IDAS||614086|REc|||| | ||
5.134|5|6|11|5q11.2|IL31RA, GLMR, GPL, PLCA2|P|Interleukin 31 receptor A||609510|REc, H|||Amyloidosis, primary localized cutaneous, 2, 613955 (3)| | |13(Il31ra)|
5.135|8|31|09|5q11.2|ITGA1, VLA1|P|Integrin, alpha-1||192968|H, REc|||| | |13(Vla1)|
5.136|1|20|11|5q11.2|KFS2, KFM|L|Klippel-Feil syndrome 2, autosomal recessive||214300|Ch|or 17q23||?Klippel-Feil syndrome 2, autosomal recessive (2)| | ||Ohashi (1992)
5.137|8|29|11|5q11.2|MAP3K1, MEKK1, MEKK, SRXY6|P|Mitogen-activated protein kinase kinase kinase 1||600982|REa, REc|||46XY sex reversal 6, 613762 (3)| | |13(Mekk)|
5.138|12|2|09|5q11.2|MIR449A, MIRN449A|C|Micro RNA 449A||613131|REc|||| | ||
5.139|12|2|09|5q11.2|MIR449B, MIRN449B|P|Micro RNA 449B||613132|REc|||| | ||
5.140|3|22|01|5q11.2|PELO|P|Pelota, Drosophila, homolog of||605757|A|||| | ||
5.141|12|28|08|5q13.1-q13.2|SLC30A5, ZNT5, ZTL1|C|Solute carrier family 30 (zinc transporter), member 5||607819|REc|||| | ||
5.142|7|16|02|5q11.2|DDX4, VASA|P|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4|(vasa, Drosophila, homolog of)|605281|R, A|||| | |13(Ddx4)|
5.143|12|19|11|5q12.3|SREK1, SFRS12, SRRp508|P|Splicing regulatory glutamine/lysine-rich protein 1||609268|REc|||| | ||
5.144|6|7|12|5q12.3|HTR1A, ADRB2RL1, PFMCD|C|5-hydroxytryptamine (serotonin) receptor-1A||109760|REa, A, Fd|||Periodic fever, menstrual cycle dependent, 614674 (3)| | |13(Htr1a)|
5.145|12|4|01|5q11.2-q13.1|TAF9, TAF2G, TAFII32|C|TAF9 RNA polymerase II, TATA box-binding protein-associated factor,|32kD|600822|REa, Psh, A|||| | ||
5.146|3|31|11|5q14.1|DHFR|C|Dihydrofolate reductase||126060|S, REa, H, D|||Megaloblastic anemia due to dihydrofolate reductase deficiency,|613839 (3) | |13(Dhfr)|
5.147|3|5|95|5q13.3|CRHBP|C|Corticotropin releasing hormone-binding protein||122559|Psh|||| | |13(Crhbp)|
5.148|8|31|09|5q12.3|ADAMTS6|P|A disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 6|605008|REa, REc|||| | ||
5.149|8|24|92|5q13.2|CCNB1|C|Cyclin B1||123836|A, REa|||| | |13(Cycb4)|
5.150|1|23|13|5q12.3|CD180, LY64, RP105|P|CD180 antigen||602226|A|||| | |13(Ly64)|
5.151|6|11|02|5q12.3|ERBB2IP, ERBIN|C|ERBB2 interacting protein||606944|R, REc|||| | ||
5.152|5|25|12|5q12.1|ERCC8, CKN1, CSA, UVSS2|C|Excision repair cross-complementing rodent repair deficiency,|complementation group 8|609412|Psh|||Cockayne syndrome, type A, 216400 (3); UV-sensitive syndrome 2,|614621 (3) | ||
5.153|6|1|00|5q12.1|PART1|P|Prostate androgen-regulated transcript 1||604991|R, A|||| | ||
5.154|5|4|12|5q11.2-q12.1|PDE4D, DPDE3, STRK1, ACRDYS2|C|Phosphodiesterase-4D, cAMP-specific (dunce, Drosophila, homolog of,|phosphodiesterase-E3)|600129|REa, A, Fd|||{Stroke, susceptibility to, 1}, 606799 (3); Acrodysostosis 2,|with or without hormone resistance, 614613 (3) | |13(Pde4D)|
5.155|8|27|01|5q13.2|ANKRA2, ANKRA|P|Ankyrin repeat-containing protein, family A, member 2||605787|R, Psh|||| | ||
5.156|8|29|08|5q14.1|CMYA5, MYOSPRYN, TRIM76|P|Cardiomyopathy-associated protein 5||612193|REc|||| | |13(Cmya5)|
5.157|4|24|96|5q13.2|FOXD1, FKHL8|P|Forkhead box D1||601091|A|||| | ||
5.158|5|31|05|5q13.2|MCCC2, MCCB|C|3-Methylcrotonyl-CoA carboxylase 2||609014|R|||3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)| | ||
5.159|8|9|05|5q11.2|PLK2, SNK|P|Polo-like kinase 2||607023|R|||| | ||
5.160|3|18|94|5q13.2|PMCHL2|P|Pro-melanin-concentrating hormone-like 2||176794|REa, A|||| | ||
5.161|10|11|07|5q12-q14|EJM4|P|Myoclonic epilepsy, juvenile, 4||611364|Fd|max lod at D5S459||Myoclonic epilepsy, juvenile, 4 (2)| | ||
5.162|10|12|10|5q14.2-q14.3|VCAN, CSPG2, WGN, WGN1, ERVR|C|Versican (chondroitin sulfate proteoglycan-2)||118661|REa, A, H, Fd|||Wagner syndrome 1, 143200 (3)| | |13(Cspg2)|
5.163|2|1|11|5q12.1|DIMT1L, DIM1, HUSSY5|P|Dimethyladenosine transferase 1-like||612499|REc|previously assigned to 8p12||| | ||
5.164|1|30|12|5q12.1|ELOVL7|P|Elongation of very long chain fatty acids-like 6||614451|REc|||| | ||
5.165|3|29|07|5q12.1|IPO11, RANBP11, SLRN|P|Importin 11||610889|REc|||| | ||
5.166|9|23|13|5q12.1|KIF2A, CDCBM3|P|Kinesin, heavy chain, 2||602591|R|||Cortical dysplasia, complex, with other brain malformations 3,|615411 (3) | ||
5.167|4|24|08|5q13.2|MRPS36|P|Mitochondrial ribosomal protein S36||611996|REc|6 pseudogenes||| | ||
5.168|1|27|11|5q12.1|NDUFAF2, NDUFA12L, MMTN, B17.2L|P|NADH dehydrogenase 1 alpha subcomplex, assembly factor 2||609653|REc|pseudogene on chr.2||Mitochondrial complex I deficiency, 252010 (3); Leigh syndrome,|256000 (3) | ||
5.169|2|28|03|5q13.2|BIRC1, NAIP|C|Baculoviral IAP repeat-containing 1|(neuronal apoptosis inhibitory protein)|600355|REn, H|?involved in SMA||| | |13(Naip)|
5.170|4|19|01|5q14.1|DMGDH, DMGDHD|P|Dimethylglycine dehydrogenase||605849|A|||Dimethylglycine dehydrogenase deficiency, 605850 (3)| | ||
5.171|4|21|97|5q13.2|GTF2H2|P|General transcription factor IIH, polypeptide 2 (44kD subunit)||601748|REc|2 copies||| | ||
5.172|9|28|00|5q13.2|SERF1A, H4F5, SMAM1|P|Small EDRK-rich factor 1A||603011|REc, D|||| | |13(M4f5)|
5.173|9|30|03|5q13.2|SMN1, SMA1, SMA2, SMA3, SMA4|C|Survival of motor neuron 1, telomeric||600354|REn|||Spinal muscular atrophy-1, 253300 (3); Spinal muscular atrophy-2,|253550 (3); Spinal muscular atrophy-3, 253400 (3); Spinal muscular atrophy-4, 271150 (3)| |13(Smn)|
5.174|10|13|09|5q12.3|NLN, KIAA1226, AGTBP|P|Neurolysin||611530|R, REc|||| | ||
5.175|3|29|07|5q12.3|RGS7BP, R7BP|P|Regulator of G protein signaling 7-binding protein||610890|REc|||| | |13(Rgs7bp)|
5.176|10|12|09|5q13.2|SMN2|P|Survival of motor neuron 2, centromeric||601627|REn|||{Spinal muscular atrophy, type III, modifier of}, 253400 (3)| | ||
5.177|9|30|02|5q13.2|BDP1, TFNR|P|B double prime 1, subunit of RNA polymerase III transcription|initiation factor IIIB|607012|A|||| | ||
5.178|12|11|01|5q13.3|EFG2|P|Elongation factor G2||606544|REc|||| | ||
5.179|9|20|00|5q13.3|ENC1, PIG10|P|Ectodermal-neural cortex 1||605173|A|||| | |13(Enc1)|
5.180|11|4|93|5q13.3|F2R, CF2R, PAR1|C|Coagulation factor II (thrombin) receptor||187930|A, R, REc|within 900kb of GPR11||| | |13(Cf2r)|
5.181|6|28|00|5q13.3|F2RL1, GPR11, PAR2|C|Cooagulation factor II, thrombin, receptor-like 1 (G protein-coupled|receptor-11)|600933|A, R, REc|within 900kb of F2R||| | ||
5.182|8|24|98|5q13.3|F2RL2, PAR3|P|Coagulation factor II receptor-like 2 (protease-activated receptor 3)||601919|REn|order: PAR2-PAR1-PAR3||| | ||
5.183|11|23|09|5q13.3|HEXB|C|Hexosaminidase B, beta polypeptide||606873|S, Ch, D|||Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)| | |13(Hex2)|
5.184|3|22|93|5q13.2|MAP1B|C|Microtubule-associated protein-1B||157129|A, Fd|||| | ||
5.185|8|25|11|5q13.3|PDE8B, PPNAD3, ADSD|C|Phosphodiesterase 8B||603390|R, Fd|||Pigmented nodular adrenocortical disease, primary, 3, 614190 (3);|Striatal degeneration, autosomal dominant, 609161 (3) | ||
5.186|9|9|13|5q13.1|PIK3R1, GRB1, AGM7, SHORT|P|Phosphatidylinositol 3-kinase, regulatory, 1||171833|REa, A|||Agammaglobulinemia 7, autosomal recessive, 615214 (3); SHORT|syndrome, 269880 (3) | |13(Pik3r1)|
5.187|7|16|09|5q11.2|RAB3C|P|Ras-associated protein RAB3C||612829|REc|||| | ||
5.188|10|20|99|5q13.2|RAD17|C|RAD17, S. pombe, homolog of||603139|A, H|||| | |13(Rad17)|
5.189|12|11|02|5q14.1|RASGRF2|P|Ras protein-specific guanine nucleotide-releasing factor 2||606614|A|||| | |13(Rasgrf2)|
5.190|9|22|08|5q13|TSHQTL1|P|Thyroid-stimulating hormone level QTL 1||612306|Fd|associated with rs4704397||[Thyroid-stimulating hormone level QTL 1] (2)| | ||
5.191|7|12|02|5q13-q14|AAT2, FAA2|P|Aortic aneurysm, familial thoracic 2||607087|Fd|||Aortic aneurysm, familial thoracic 2 (2)| | ||
5.192|7|8|95|5q14.2|XRCC4|C|X-ray repair, complementing defective, repair in Chinese hamster|cells-4|194363|S, REa, R|between D5S427 and D5S401||| | ||
5.193|6|3|02|5q13-q22|CMAL|P|Capillary malformations, hereditary||163000|Fd|?same as HCI||Capillary malformations, hereditary (2)| | ||
5.194|4|24|02|5q13-q22|GINGF2, GGF2, HGF2|P|Fibromatosis, gingival, 2||605544|Fd|formerly GINGF2 used for a locus on 2p16-p13||Fibromatosis, gingival, 2 (2)| | ||
5.195|9|21|11|5q14.3|HAPLN1, CRTL1|P|Hyaluronan and proteoglycan link protein 1||115435|A|||| | ||
5.196|9|5|91|5q21.3|RPS20A|P|Ribosomal protein S20A||180463|REa|?pseudogene||| | ||
5.197|12|29|06|5q13.2|MARVELD2, MARVD2, TRIC, DFNB49|C|Marvel domain-containing protein 2 (tricellulin)||610572|REc, Fd, REc|||Deafness, autosomal recessive 49, 610153 (3)| | |13(tric)|
5.198|1|27|11|5q13.2|OCLN, BLCPMG|C|Occludin||602876|R, REc|||Band-like calcification with simplified gyration and|polymicrogyria, 251290 (3) | ||
5.199|2|20|01|5q13.3|POLK, POLQ, DINB1|P|Polymerase, DNA, kappa||605650|REa, A|||| | ||
5.200|4|30|09|5q14.1|BHMT|P|Betaine-homocysteine methyltransferase||602888|REn|||| | ||
5.201|5|7|01|5q14.1|BHMT2|P|Betaine-homocysteine methyltransferase 2||605932|A, R|||| | |13(Bhmt2)|
5.202|9|14|05|5q13.2|CART|P|Cocaine- and amphetamine-regulated transcript||602606|REc|||{Obesity, susceptibility to}, 601665 (3)| | ||
5.203|3|24|11|5q13.2|CCDC125, KENAE|P|Coiled-coil domain-containing protein 125||613781|REc|||| | ||
5.204|2|24|98|5q13.2|CDK7, STK1, CAK1|P|Cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating|kinase)|601955|REa, REc|previously mapped to 2p15-cen||| | ||
5.205|9|7|10|5q13.2|FCHO2|P|FCH domain-only protein 2||613438|REc|||| | ||
5.206|11|5|99|5q14.1|JMY|P|Junction-mediating and regulatory protein||604279|A|||| | ||
5.207|4|24|08|5q13.2|MRPS27, KIAA0264|P|Mitochondrial ribosomal protein S27||611989|R, REc|||| | ||
5.208|11|10|13|5q13.2|PTCD2|P|Pentatricopeptide repeat domain-containing protein 2||615484|REc|||| | ||
5.209|5|26|09|5q13.2|RGNEF, p190RHOGEF|P|Rgnef, mouse, homolog of||612790|REc|||| | ||
5.210|12|10|12|5q13.2|TMEM174|P|Transmembrane protein 174||614909|REc|||| | ||
5.211|4|19|06|5q13.2|TNPO1, KPNB2, MIP1|P|Transportin 1||602901|R|||| | ||
5.212|1|8|07|5q13.3|AGGF1, VG5Q, HUS84971, FLJ10283|P|Angiogenic factor with G patch and FHA domains 1||608464|Ch|||| | ||
5.213|1|2|95|5q14.1|CKMT2|C|Creatine kinase, mitochondrial-2 (sarcomeric)||123295|Psh, A|||| | ||
5.214|3|8|00|5q14.1|OTP|C|Orthopedia, Drosophila, homolog of||604529|R, A|||| | ||
5.215|10|29|09|5q14.3|RASA1, GAP, CMAVM, PKWS|C|RAS p21 protein activator 1 (GTPase activating protein)||139150|REa, A|||Parkes Weber syndrome, 608355 (3); Capillary|malformation-arteriovenous malformation, 608354 (3); Basal cell carcinoma, somatic, 605462 (3)| |13(Gap)|
5.216|7|3|06|5q13.3|S100Z|P|S100 calcium-binding protein, zeta||610103|REc|||| | ||
5.217|12|4|02|5q14.1|SSBP2|P|Single-stranded DNA-binding protein 2||607389|REc|||| | ||
5.218|8|3|12|5q13.3|SV2C|P|Synaptic vesicle glycoprotein 2C||610291|REc|||| | ||
5.219|12|22|08|5q13.3|TINP1, NSA2, HUSSY29|P|Transforming growth factor-beta-inducible nuclear protein 1||612497|REc|||| | ||
5.220|5|31|13|5q13.3|ZBED3|P|Zinc finger BED domain-containing protein 3||615250|REc|||| | ||
5.221|6|19|98|5q14.3|CCNH, CAK|P|Cyclin H||601953|REa, A, REc|||| | ||
5.222|5|18|09|5q13.3|HMGCR, LDLCQ3|C|3-hydroxy-3-methylglutaryl-Coenzyme A reductase;|HMG CoA reductase|142910|REa, A|||[Statins, attenuated cholesterol lowering by] (3); [Low density|lipoprotein cholesterol level QTL 3] (3) | |13(Hmgcr)|
5.223|5|13|02|5q14.1|SCAMP1, SCAMP37|P|Secretory carrier membrane protein 1||606911|R|||| | ||
5.224|6|15|99|5q14.3|COX7C|P|Cytochrome C oxidase, subunit VII C||603774|A, R|pseudogene on 13q14-q21||| | ||
5.225|4|1|96|5q15|GLRX, GRX|P|Glutaredoxin (thioltransferase)||600443|REa, A|||| | ||
5.226|6|5|13|5q14|HBT|P|Telangiectasia, hereditary benign||187260|Fd|max lod at D5S641||Telangiectasia, hereditary benign (2)| | ||
5.227|7|8|10|5q14.3|MEF2C, C5DELq14.3, DEL5q14.3|C|MADS box transcription enhancer factor 2, polypeptide C (myocyte|enhancer factor 2C)|600662|A, REa|||Mental retardation, stereotypic movements, epilepsy, and/or|cerebral malformations, 613443 (3); Chromosome 5q14.3 deletion syndrome, 613443 (4)| |13(mef2c)|
5.228|8|18|98|5q15|NR2F1, TFCOUP1, ERBAL3, EAR3|P|Nuclear receptor subfamily 2, group F, member 1 (transcription factor|COUP 1)|132890|A|||| | |13(Tcfcoup1)|
5.229|2|28|94|5q21.1|PAM|P|Peptidylglycine alpha-amidating monooxygenase||170270|REa, A|||| | |1(Pam)|
5.230|10|28|11|5q14.1|ACOT12, CACH|P|Acyl-CoA thioesterase 12||614315|REc|||| | |13(Acot12)|
5.231|5|31|05|5q14.1|AP3B1, ADTB3A, HPS2|P|Adaptor-related protein complex 3, beta 1 subunit (adaptin, beta-3a)||603401|REc|||Hermansky-Pudlak syndrome 2, 608233 (3)| | |13(Ap3bi, pe)|
5.232|12|28|08|5q14.1|LHFPL2, KIAA0206|C|LHFP-like protein 2||609718|R, REc|||| | ||
5.233|7|27|11|5q14.1|PAPD4, GLD2|P|Poly(A) polymerase-associated domain-containing protein 4||614121|REc|||| | ||
5.234|4|2|12|5q14.1|SERINC5, C5orf12, TPO1|P|Serine incorporator 5||614551|REc|||| | ||
5.235|9|16|12|5q14.1|ZFYVE16, ENDOFIN, KIAA0305|P|Zinc finger FYVE domain-containing protein 16||608880|REc|||| | ||
5.236|5|9|12|5q14.1-q21.3|KTCN5|P|Keratoconus 5||614622|Fd|between D5S2499 and D5S495||Keratoconus 5 (2)| | ||
5.237|3|8|07|5q14.1-q14.2|ATG10, APG10|P|Autophagy 10, S. cerevisiae, homolog of||610800|R, REc|||| | ||
5.238|7|9|06|5q14.1|HOMER1, HOMER1B, HOMER1C, HOMER1A|P|Homer, homlog 1 (Drosophila)||604798|R|||| | ||
5.239|11|3|11|5q14.2|RPS23|P|Ribosomal protein S23||603683|Psh, R, REc|||| | ||
5.240|11|3|11|5q14.2|VUR4|P|Vesicoureteral reflux 4||614317|Fd|closest marker rs1501656||Vesicoureteral reflux 4 (2)| | ||
5.241|5|13|02|5q15|LNPEP|P|Leucyl-cystinyl aminopeptidase||151300|A|||| | ||
5.242|12|24|08|5q14.3|ARRDC3, TLIMP, KIAA1376|P|Arrestin domain-containing 3||612464|REc|||| | ||
5.243|5|25|13|5q14.3|CETN3, CDC31|P|Centrin 3||602907|REc|||| | ||
5.244|5|6|11|5q14.3|GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C|C|G protein-coupled receptor 98||602851|A, REc, R, Fd|||Febrile seizures, familial, 4, 604352 (3); Usher syndrome, type|2C, 605472 (3); Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3) | |13(Frings, mass1)|
5.245|3|23|09|5q14.3|MIR9-2, MIRN9-2|P|Micro RNA 9-2||611187|REc|||| | ||
5.246|5|6|03|5q15|RHOBTB3, KIAA0878|P|Rho-related BTB domain-containing protein 3||607353|REc|||| | ||
5.247|10|31|13|5q14.3-q15|PVNH5|P|Periventricular nodular heterotopia 5||612881|Ch|deletion range 6.3-17Mb, common range 5.8Mb||Periventricular nodular heterotopia 5 (4)| | ||
5.248|5|19|06|5q15|ARSK|P|Arylsulfatase K||610011|REc|||| | ||
5.249|6|10|08|5q15|ELL2|P|Elongation factor, RNA polymerase II, 2||601874|R, REc|||| | ||
5.250|6|10|08|5q15|ERAP1, ALAP, ARTS1, PILSAP, KIAA0525|P|Endoplasmic reticulum aminopeptidase 1||606832|REc|||| | ||
5.251|12|30|09|5q15|ERAP2, LRAP|P|Endoplasmic reticulum aminopeptidase 2||609497|REc|||| | ||
5.252|5|24|13|5q15|LIX1|P|Limb expression 1, mouse, homolog of||610466|REc|||| | ||
5.253|4|27|12|5q15|TTC37, KIAA0372|P|Tetratricopeptide repeat domain 37||614589|REc|||Trichohepatoenteric syndrome 1, 222470 (3)| | ||
5.254|8|11|91|5q15|CAST|P|Calpastatin||114090|A, REb|||| | ||
5.255|5|29|98|5q15-q21|CHD1|P|Chromodomain helicase DNA binding protein-1||602118|REc|||| | ||
5.256|10|29|08|5q15|PCSK1, NEC1, PC1, PC3, BMIQ12|P|Proprotein convertase subtilisin/kexin type 1||162150|A|||Obesity with impaired prohormone processing, 600955 (3); {Obesity,|susceptibility to, BMIQ12}, 612362 (3) | |13(Nec1)|
5.257|11|30|06|5q35.2|CPEB4, KIAA1673|P|Cytoplasmic polyadenylation element-binding protein 4||610607|REa, REc|||| | ||
5.258|12|5|13|5q22.2|MCC|C|Mutated in colorectal cancers||159350|REn, D|||Colorectal cancer, 114500 (3)| | |18(Mcc)|
5.259|9|14|05|5q21|MGR8|P|Migraine, susceptibility to, 8||609570|Fd|||{Migraine, susceptibility to, 8} (2)| | ||
5.260|7|14|98|5q21.1|PST, PST1|P|Polysialyltransferase||602547|A|||| | ||
5.261|7|12|13|5q22.2|APC, GS, FPC, BTPS2|C|Adenomatous polyposis coli||611731|D, Fd, REn|150kb distal to MCC||Adenomatous polyposis coli, 175100 (3); Gastric cancer, somatic,|613659 (3); Adenoma, periampullary, somatic (3); Hepatoblastoma, somatic, 114550 (3); Desmoid disease, hereditary, 135290 (3); Colorectal cancer,|somatic, 114500 (3); Brain tumor-polyposis syndrome 2, 175100 (3); Gardner syndrome, 175100 (3)|18(Min, Apc)|
5.262|1|24|06|5q22.2|DCP2|C|Decapping enzyme 2, S. cerevisiae, homolog of||609844|REc|||| | ||
5.263|2|27|01|5q23.1|DMXL1|P|DMX-like 1||605671|A, R|||| | ||
5.264|4|30|91|5q21.3|FER, TYK3|C|fer (fps/fes related) tyrosine kinase||176942|REa, A|||| | |11(Fert)|
5.265|10|26|97|5q21.3|MAN2A1, MANA2|P|Mannosidase, alpha, class 2A, member 1||154582|REa, A|||| | ||
5.266|5|27|93|5q22.2|SRP19|C|Signal recognition particle 19kD||182175|REn|within 100kb of APC||| | ||
5.267|12|4|90|5q22.1|CAMK4|P|Ca(2+)-calmodulin-dependent protein kinase type IV of brain||114080|REa, A, H|||| | |18(Camk4)|
5.268|12|18|07|5q21.1|HISPPD1, PPIP5K2, VIP2, KIAA0433|P|Histidine acid phosphatase domain-containing protein 1||611648|R, REc|||| | ||
5.269|3|31|09|5q15|RGMB, DRAGON|P|RGM domain family, member B||612687|R, REc|||| | ||
5.270|6|13|12|5q21.1|SLCO4C1, OATP4C1|P|Solute carrier organic anion transporter family, member 4C1||609013|REc|||| | ||
5.271|4|20|10|5q21.1|SLCO6A1, GST|P|Solute carrier organic anion transporter family, member 6A1||613365|REc|||| | ||
5.272|8|9|01|5q22.3|KCNN2, SK2|P|Potassium channel, calcium-activated, intermediate/small conductance,|subfamily N, member 2|605879|REc|||| | ||
5.273|9|9|08|5q21.3|FBXL17, FBL17, FBX13, FBXO13|P|F-box and leucine-rich repeat protein 17||609083|REc|||| | |17(Fbxl17)|
5.274|8|18|04|5q23.1|FTMT|P|Ferritin, mitochondrial||608847|REc|||| | ||
5.275|3|22|06|5q22.1|WDR36, TAWDRP, GLC1G|P|WD repeat-containing protein 36||609669|REc|||Glaucoma 1, open angle, G, 609887 (3)| | ||
5.276|7|8|10|5q22|EOE2|P|Esophagitis, eosinophilic, 2||613412|Fd|association with rs3806932||{Esophagitis, eosinophilic, 2} (2)| | ||
5.277|6|28|02|5q22.1|STARD4|P|Start domain-containing protein 4||607049|REc|||| | ||
5.278|1|22|07|5q22.2|TSSK1, STK22D|P|Testis-specific serine/threonine kinase 1||610709|REc|pseudogene on chr22||| | |16(Tssk1)|
5.279|7|10|08|5q22.1-q22.2|EPB41L4A, EPB41L4, NBL4|P|Erythrocyte membrane protein band 4.1-like 4A||612141|A|||| | ||
5.280|9|28|96|5q22.2|ZRSR1, U2AF1RS1|P|Zinc finger-, CCCH domain-, and RNA-binding motif-containing|serine/arginine-rich protein 1|601079|A|||| | |11(U2af1rs1)|
5.281|8|9|99|5q22.3|CDO1|P|Cysteine dioxygenase, type 1||603943|Psh, A|||| | |18(Cdo1)|
5.282|3|22|06|5q22.2|REEP5, D5S346, DP1, C5orf18|P|Receptor expression-enhancing protein 5||125265|REn|||| | ||
5.283|8|31|09|5q22.1|C5orf13, P311, PTZ17|P|P311 protein||607332|R, REc|||| | ||
5.284|9|9|08|5q22.1|TSLP|P|Thymic stromal lymphopoietin||607003|R|||| | |18(Tslp)|
5.285|10|30|06|5q22.1-q32|GLC1M|P|Glaucoma 1, open angle, M||610535|Fd|between D5S2051 and D5S2090||Glaucoma 1, open angle, M (2)| | ||
5.286|3|12|07|5q22.1|SLC25A46|P|Solute carrier family 25, member 46||610826|REc|||| | |8(Slc25a46)|
5.287|11|13|13|5q22.3|PGGT1B|P|Protein geranylgeranyltransferase type I, beta subunit||602031|REc|||| | ||
5.288|7|1|05|5q22.3|TRIM36, RBCC728|C|Tripartite motif-containing protein 36||609317|R, REc|||| | ||
5.289|8|3|00|5q35.3|ADAMTS2, NPI|P|A disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 2 (procollagen I N-proteinase)|604539|REa, H|||Ehlers-Danlos syndrome, type VIIC, 225410 (3)| | |11(Adamts2)|
5.290|3|16|99|5q31.1|CAMLG|P|Calcium-modulating cyclophilin ligand||601118|A|||| | |13(Camlg)|
5.291|10|28|99|5q23.2|CSNK1G3|P|Casein kinase I, gamma-3||604253|R, A|||| | ||
5.292|5|19|06|5q31.3|HBEGF, DTR, DTSF, HEGFL|C|Heparin-binding EGF-like growth factor (diphtheria toxin receptor)||126150|S, M|||{Diphtheria, susceptibility to} (1)| | |18(Hegfl)|
5.293|5|15|01|5q23.2|SNX2|P|Sorting nexin 2||605929|R|||| | ||
5.294|2|17|09|5q23.3|FBN2, CCA|P|Fibrillin-2||612570|Fd, A|||Contractural arachnodactyly, congenital, 121050 (3)| | |18(Fbn2)|
5.295|9|13|11|5q11.2|ITGA2, CD49B, BR, BDPLT9|P|Integrin, alpha-2 (CD49B; alpha-2 subunit of VLA-2 receptor; platelet|antigen Br)|192974|S, Psh, A|||?Glycoprotein Ia deficiency, 614200 (1)| | ||
5.296|11|29|00|5q31.1|NEUROG1, NEUROD3|P|Neurogenin 1||601726|A|||| | |13(Neurod3)|
5.297|6|15|99|5q31.2|NME5, NM23H5|P|Nonmetastatic cells 5, protein expressed in (nonmetastatic protein 23,|homolog 5)|603575|R|||| | ||
5.298|7|11|93|5q31.1|PPP2CA|P|Protein phosphatase-2 (formerly 2A), catalytic subunit, alpha isoform||176915|REa, A|||| | ||
5.299|10|28|96|5q31.1|UBE2B, RAD6B|P|Ubiquitin-conjugating enzyme E2B (RAD6 homolog)||179095|A|||?Male infertility (1)| | ||
5.300|6|4|99|5q31.2|NRG2|P|Neruregulin 2||603818|R, REc|||| | ||
5.301|8|18|98|5q33.3|FABP6, ILLBP|P|Fatty acid-binding protein 6, ileal (gastrotropin)||600422|H, REa|||| | |11(Illbp)|
5.302|5|5|09|5q23-q35|SCZD1|P|Schizophrenia susceptibility locus, chromosome 5-related||181510|max lod at D5S820|||{Schizophrenia}, 181500 (2)| | ||
5.303|2|1|11|5q22.3-q23.1|AP3S1, CLAPS3|P|Adaptor-related protein complex 3, sigma 1 subunit||601507|REc|previously assigned to chr. 12 by FISH||| | ||
5.304|5|8|13|5q23.1|HSD17B4, PRLTS1|P|Hydroxysteroid (17-beta) dehydrogenase 4||601860|A|||D-bifunctional protein deficiency, 261515 (3); Perrault syndrome 1,|233400 (3) | ||
5.305|6|9|06|5q23.1|LVRN|P|Laeverin||610046|R, REc|||| | ||
5.306|3|14|07|5q23.1|SRFBP1, P49|P|Serum response factor binding protein 1||610479|R, REc|||| | ||
5.307|12|8|03|5q22.3|TIRP, TRAM|P|Toll/interleukin-1 receptor domain-containing protein||608321|REc|||| | ||
5.308|6|30|08|5q23.1|TNFAIP8, SCCS2|P|Tumor necrosis factor-alpha-induced protein 8||612111|R, REc|||| | ||
5.309|3|15|10|5q23.2|SNCAIP|C|Synuclein-alpha-interacting protein (synphilin 1)||603779|R|||| | ||
5.310|9|7|10|5q23.2|CEP120, CCDC100|P|Centrosomal protein, 120kD||613446|REc|||| | ||
5.311|11|11|13|5q23.2|LMNB1, ADLD|C|Lamin B1||150340|H, A, Fd, REc|||Leukodystrophy, adult-onset, autosomal dominant, 169500 (3)| | |18(Lmnb)|
5.312|6|7|10|5q23.2|MARCH3|P|Membrane-associated RING-CH finger protein 3||613333|REc|||| | ||
5.313|5|4|12|5q23.2|MEGF10, KIAA1780, EMARDD|P|Multiple epidermal growth factor-like domains 10||612453|REc|||Myopathy, areflexia, respiratory distress, and dysphagia,|early-onset, 614399 (3); Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)| ||
5.314|8|31|09|5q23.2|PPIC|P|Peptidyl-prolyl isomerase C||123842|R, REc|||| | ||
5.315|11|30|06|5q31.1|FNIP1, KIAA1961|P|Folliculin-interacting protein 1||610594|REc|||| | ||
5.316|11|20|95|5q23.3|SLC12A2, NKCC1|P|Solute carrier family 12 (sodium/potassium/chloride transporters),|member 2|600840|A|||| | ||
5.317|2|27|01|5q31.3|RNF14, ARA54|P|RING finger protein-14||605675|REa, R|||| | ||
5.318|5|19|97|5q23.1-q23.2|LOX|C|Lysyl oxidase||153455|REa, A|||| | |18(Lox)|
5.319|9|18|08|5q31.1|ACSL6, FACL6, ACS2|P|Acyl-CoA synthetase long-chain family member 6||604443|Ch|||Myelodysplastic syndrome (3); Myelogenous leukemia, acute (3)| | ||
5.320|8|31|12|5q23.3|ADAMTS19|P|A disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 19|607513|REc|||| | ||
5.321|2|1|00|5q31.1|AF5Q31|P|ALL1 fused gene from 5q31||604417|Ch|||| | ||
5.322|3|26|07|5q23.2|ALDH7A1, ATQ1, EPD, PDE|C|Aldehyde dehydrogenase 7 family, member A1|(antiquitin 1)|107323|A, Fd|||Epilepsy, pyridoxine-dependent, 266100 (3)| | |18(Atq1)|
5.323|8|31|09|5q31.3|APBB3, FE65L2|P|Amyloid beta (A4) precursor protein-binding, family B, member 3||602711|R, REc|||| | ||
5.324|3|14|07|5q31.3|ARHGAP26, GRAF|C|RHO GTPase-activating protein 26||605370|Ch, A|||Leukemia, juvenile myelomonocytic, 607785 (3)| | ||
5.325|3|22|93|5q31.2|CDC25C|C|Cell division cycle 25C||157680|A, REn|||| | ||
5.326|2|16|04|5q31.1|CDKL3, NKIAMRE|P|Cyclin-dependent kinase-like 3||608459|A|||| | ||
5.327|4|13|10|5q23.3|CHSY3, CSS3|P|Chondroitin sulfate synthase 3||609963|REc|||| | ||
5.328|9|14|95|5q31.2|CTNNA1|C|Catenin (cadherin-associated protein), alpha 1, 102kD||116805|A, REa|||| | |18(Catna1)|
5.329|8|28|02|5q31.1|CXCL14, SCYB14, BRAK|P|Chemokine, C-X-C motif, ligand 14||604186|REc|||| | ||
5.330|5|8|98|5q31.3|DIAPH1, DFNA1, LFHL1|C|Diaphanous, Drosophila, homolog of, 1||602121|Fd, REc|||Deafness, autosomal dominant 1, 124900 (3)| | ||
5.331|6|10|94|5q31.3|FGF1, FGFA|C|Fibroblast growth factor-1 (acidic)||131220|REa, A, D|||| | ||
5.332|3|2|01|5q31.2|GFRA3|C|GDNF family receptor alpha-3||605710|A|||| | ||
5.333|2|19|10|5q31.3|GNPDA1, GNP1, GNPI, KIAA0060|P|Glucosamine 6-phosphate deaminase 1||601798|A|||| | ||
5.334|8|15|00|5q31.3|HDAC3|C|Histone deacetylase 3||605166|A|||| | ||
5.335|10|11|05|5q31.2|HNRPA0|P|Heterogeneous nuclear ribonucleoprotein A0||609409|REc|||| | ||
5.336|1|31|02|5q31|IBD5|C|Inflammatory bowel disease 5||606348|Fd|||{Inflammatory bowel disease 5} (2)| | ||
5.337|10|30|03|5q31.1|IL13, ALRH, BHR1|C|Interleukin-13||147683|REn, Fd|||{Asthma, susceptibility to}, 600807 (3); {Allergic rhinitis,|susceptibility to}, 607154 (3) | ||
5.338|10|24|11|5q31.2|KDM3B, C5orf7, KIAA1082, JMJD1B|C|Lysine-specific demethylase 3B||609373|R, REc|||| | ||
5.339|12|29|00|5q31.1|KIF3A|P|Kinesin family member 3A||604683|R|||| | ||
5.340|3|12|03|5q31.2|KIF20A, RAB6KIFL|P|Kinesin family member 20A||605664|REc|||| | ||
5.341|2|27|12|5q31.2|KLHL3, PHA2D|P|Kelch-like 3||605775|REc|||Pseudohypoaldosteronism, type IID, 614495 (3)| | ||
5.342|10|14|98|5q31.1|MADH5, SMAD5|P|Mothers against decapentaplegic, Drosophila, homolog of, 5||603110|REa, REc|||| | ||
5.343|1|31|07|5q33.1|MYOZ3, FRP3|P|Myozenin 3||610735|REc|||| | ||
5.344|2|18|98|5q31.2|NPY6R, PP2|C|Neuropeptide Y receptor Y6||601770|A, H|?nonfunctional pseudogene||| | |18(Npy6r)|
5.345|10|21|99|5q31.3|NR3C1, GCR, GRL|C|Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid|receptor)|138040|S, REa, Fd, H, A, D, REn|||Cortisol resistance (3)| | |18(Grl1)|
5.346|11|2|04|5q31.1|P4HA2|P|Procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit,|isoform 2|600608|REc|||| | ||
5.347|2|6|01|5q31.3|PCDH12, VECAD2|P|Protocadherin 12 (cadherin, vascular endothelial, 2)||605622|REc|||| | ||
5.348|5|24|00|5q31|PCDHA@|P|Protocadherin-alpha gene cluster||604966|REc|||| | ||
5.349|10|2|01|5q31.3|PCDHA1|P|Protocadherin-alpha 1||606307|REc|||| | ||
5.350|10|2|01|5q31.3|PCDHA2|P|Protocadherin-alpha 2||606308|REc|||| | ||
5.351|10|1|01|5q31.3|PCDHA3|P|Protocadherin-alpha 3||606309|REc|||| | ||
5.352|10|2|01|5q31.3|PCDHA4|P|Protocadherin-alpha 4||606310|REc|||| | ||
5.353|10|2|01|5q31.3|PCDHA5|P|Protocadherin-alpha 5||606311|REc|||| | ||
5.354|10|2|01|5q31.3|PCDHA6|P|Protocadherin-alpha 6||606312|REc|||| | ||
5.355|10|2|01|5q31.3|PCDHA7|P|Protocadherin-alpha 7||606313|REc|||| | ||
5.356|10|2|01|5q31.3|PCDHA8|P|Protocadherin-alpha 8||606314|REc|||| | ||
5.357|10|2|01|5q31.3|PCDHA9|P|Protocadherin-alpha 9||606315|REc|||| | ||
5.358|10|2|01|5q31.3|PCDHA10|P|Protocadherin-alpha 10||606316|REc|||| | ||
5.359|10|2|01|5q31.3|PCDHA11|P|Protocadherin-alpha 11||606317|REc|||| | ||
5.360|10|2|01|5q31.3|PCDHA12|P|Protocadherin-alpha 12||606318|REc|||| | ||
5.361|10|2|01|5q31.3|PCDHA13|P|Protocadherin-alpha 13||606319|REc|||| | ||
5.362|10|2|01|5q31.3|PCDHAC1|P|Protocadherin-alpha, subfamily C, member 1||606320|REc|||| | ||
5.363|10|2|01|5q31.3|PCDHAC2|P|Protocadherin-alpha, subfamily C, member 2||606321|REc|||| | ||
5.364|5|24|00|5q31|PCDHB@|P|Protocadherin-beta gene cluster||604967|REc|||| | ||
5.365|10|2|01|5q31.3|PCDHB1|P|Protocadherin-beta 1||606327|REc|||| | ||
5.366|10|2|01|5q31.3|PCDHB2|P|Protocadherin-beta 2||606328|REc|||| | ||
5.367|10|2|01|5q31.3|PCDHB3|P|Protocadherin-beta 3||606329|REc|||| | ||
5.368|10|2|01|5q31.3|PCDHB4|P|Protocadherin-beta 4||606330|REc|||| | ||
5.369|10|2|01|5q31.3|PCDHB5|P|Protocadherin-beta 5||606331|REc|||| | ||
5.370|10|2|01|5q31.3|PCDHB6|P|Protocadherin-beta 6||606332|REc|||| | ||
5.371|10|2|01|5q31.3|PCDHB7|P|Protocadherin-beta 7||606333|REc|||| | ||
5.372|10|2|01|5q31.3|PCDHB8|P|Protocadherin-beta 8||606334|REc|||| | ||
5.373|10|2|01|5q31.3|PCDHB9|P|Protocadherin-beta 9||606335|REc|||| | ||
5.374|10|2|01|5q31.3|PCHB10|P|Protocadherin-beta 10||606336|REc|||| | ||
5.375|10|2|01|5q31.3|PCDHB11|P|Protocadherin-beta 11||606337|REc|||| | ||
5.376|10|2|01|5q31.3|PCDHB12|P|Protocadherin-beta 12||606338|REc|||| | ||
5.377|10|2|01|5q31.3|PCDHB13|P|Protocadherin-beta 13||606339|REc|||| | ||
5.378|10|2|01|5q31.3|PCDHB14|P|Protocadherin-beta 14||606340|REc|||| | ||
5.379|10|2|01|5q31.3|PCDHB15|P|Protocadherin-beta 15||606341|REc|||| | ||
5.380|10|2|01|5q31.3|PCDHB16|P|Protocadherin-beta 16||606345|REc|||| | ||
5.381|5|24|00|5q31|PCDHG|P|Protocadherin-gamma gene cluster||604968|REc|||| | ||
5.382|10|2|01|5q31.3|PCDHGA1|P|Protocadherin-gamma, subfamily A, member 1||606288|REc|||| | ||
5.383|10|2|01|5q31.3|PCDHGA2|P|Protocadherin-gamma, subfamily A, member 2||606289|REc|||| | ||
5.384|10|2|01|5q31.3|PCDHGA3|P|Protocadherin-gamma, subfamily A, member 3||606290|REc|||| | ||
5.385|10|2|01|5q31.3|PCDHGA4|P|Protocadherin-gamma, subfamily A, member 4||606291|REc|||| | ||
5.386|10|2|01|5q31.3|PCDHGA5|P|Protocadherin-gamma, subfamily A, member 5||606292|REc|||| | ||
5.387|10|2|01|5q31.3|PCDHGA6|P|Protocadherin-gamma, subfamily A, member 6||606293|REc|||| | ||
5.388|10|2|01|5q31.3|PCDHGA7|P|Protocadherin-gamma, subfamily A, member 7||606294|REc|||| | ||
5.389|10|2|01|5q31.3|PCDHGA8|P|Protocadherin-gamma, subfamily A, member 8||606295|REc|||| | ||
5.390|10|2|01|5q31.3|PCDHGA9|P|Protocadherin-gamma, subfamily A, member 9||606296|REc|||| | ||
5.391|10|2|01|5q31.3|PCDHGA10|P|Protocadherin-gamma, subfamily A, member 10||606297|REc|||| | ||
5.392|10|2|01|5q31.3|PCDHGA11|P|Protocadherin-gamma, subfamily A, member 11||606298|REc|||| | ||
5.393|10|2|01|5q31.3|PCDHGA12|P|Protocadherin-gamma, subfamily A, member 12||603059|REc|||| | ||
5.394|10|2|01|5q31.3|PCDHGB1|P|Protocadherin-gamma, subfamily B, member 1||606299|REc|||| | ||
5.395|10|2|01|5q31.3|PCDHGB2|P|Protocadherin-gamma, subfamily B, member 2||606300|REc|||| | ||
5.396|10|2|01|5q31.3|PCDHGB3|P|Protocadherin-gamma, subfamily B, member 3||606301|REc|||| | ||
5.397|10|2|01|5q31.3|PCDHGB4|P|Protocadherin-gamma, subfamily B, member 4||603058|REc|||| | ||
5.398|10|2|01|5q31.3|PCDHGB5|P|Protocadherin-gamma, subfamily B, member 5||606302|REc|||| | ||
5.399|10|2|01|5q31.3|PCDHGB6|P|Protocadherin-gamma, subfamily B, member 6||606303|REc|||| | ||
5.400|10|2|01|5q31.3|PCDHGB7|P|Protocadherin-gamma, subfamily B, member 7||606304|REc|||| | ||
5.401|10|2|01|5q31.3|PCDHGC3|P|Protocadherin-gamma, subfamily C, member 3||603627|REc|||| | ||
5.402|10|2|01|5q31.3|PCDHGC4|P|Protocadherin-gamma, subfamily C, member 4||606305|REc|||| | ||
5.403|10|2|01|5q31.3|PCDHGC5|P|Protocadherin-gamma, subfamily C, member 5||606306|REc|||| | ||
5.404|9|13|01|5q31|PDB4|P|Paget disease of bone 4||606263|Fd|||Paget disease of bone, 602080 (2)| | ||
5.405|7|9|06|5q31.3|PFDN1|P|Prefoldin 1||604897|R, REc|||| | ||
5.406|11|1|12|5q31.1|PITX1, PTX1, BFT, POTX, CCF, LBNBG|P|Paired-like homeodomain transcription factor-1||602149|A|||Clubfoot, congenital, with or without deficiency of long bones|and/or mirror-image polydactyly, 119800 (3); Liebenberg syndrome, 186550 (4) | |13(Ptx1)|
5.407|5|4|00|5q31.2|PKD2L2|P|Polycystin 2-like 2||604669|R, Psh|||| | ||
5.408|7|13|98|5q32|POU4F3, BRN3C|C|POU domain, class 4, transcription factor-3||602460|REa, H|||Deafness, autosomal dominant 15, 602459 (3)| | |18(pou4f3)|
5.409|3|6|98|5q31.2|PURA, PUR1|P|Purine-rich element binding protein A||600473|REa, A|||| | ||
5.410|10|12|09|5q31.1|RAD50, NBSLD|P|RAD50, S. cerevisiae, homolog of||604040|REc, REa|||Nijmegen breakage syndrome-like disorder, 613078 (3)| | ||
5.411|7|1|05|5q31.2|REEP2, C5orf19|P|Receptor expression-enhancing protein 2||609347|R, REc|||| | ||
5.412|5|6|13|5q31|RLS8|P|Restless legs syndrome, susceptibility to, 8||615197|Fd|||Restless legs syndrome, susceptibility to, 8 (2)| | ||
5.413|12|7|05|5q31.2|SIL1, BAP, MSS|C|Sil1, S. cerevisiae, homolog of||608005|R, REc, Fd|||Marinesco-Sjogren syndrome, 248800 (3)| | ||
5.414|3|16|04|5q31.1|SKP1A, TCEB1L, OCP2|C|S-phase kinase-associated protein 1A (p19A)||601434|A|pseudogene on chr.7||| | ||
5.415|4|7|09|5q31.1|SLC22A4, OCTN1|P|Solute carrier family 22 (organic cation transporter), member 4||604190|R|||{Rheumatoid arthritis, susceptibility to}, 180300 (3)| | ||
5.416|10|30|03|5q31.3|SLC25A2, ORNT2|P|Solute carrier family 25 (mitochondrial carrier, ornithine|transporter), member 2|608157|R|||| | ||
5.417|8|9|99|5q31.2|SPOCK|P|Testican||602264|A, REc|previously mapped to chr.21||| | ||
5.418|12|4|01|5q31.3|TAF7, TAF2F, TAFII55|P|TAF7 RNA polymerase II, TATA box-binding protein-associated factor,|55kD|600573|REc|||| | |18(Taf2f)|
5.419|1|30|02|5q32|TCERG1, TAF2S, CA150|P|Transcription elongation regulator 1|(transcription factor CA150)|605409|R|||| | |18(Ca150)|
5.420|1|19|07|5q31.1|TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD|C|Transforming growth factor, beta-induced, 68kD||601692|REc, Fd|||Corneal dystrophy, Groenouw type I, 121900 (3); Corneal dystrophy,|lattice type I, 122200 (3); Corneal dystrophy, Reis-Bucklers type, 608470 (3); Corneal dystrophy, Avellino type, 607541 (3); Corneal dystrophy, lattice type|IIIA, 608471 (3); Corneal dystrophy, Thiel-Behnke type, 602082 (3); Corneal dystrophy, epithelial basement membrane, 121820 (3)||
5.421|8|6|13|5q31.2|MYOT, TTOD, MFM3|C|Myotilin (titin immunoglobulin domain protein)||604103|R|||Muscular dystrophy, limb-girdle, type 1A, 159000 (3); Myopathy,|myofibrillar, 3, 609200 (3); Myopathy, spheroid body, 182920 (3) | ||
5.422|2|4|00|5q31.1|VDAC1|P|Voltage-dependent anion channel 1||604492|A|||| | |11(Vdac1)|
5.423|4|1|09|5q31.3|VTRNA1-1, HVG1, VAULTRC1|P|Vault RNA 1-1||612695|REc|||| | ||
5.424|3|31|09|5q31.3|VTRNA1-2, HVG2, VAULTRC2|P|Vault RNA 1-2||612696|REc|||| | ||
5.425|4|1|09|5q31.3|VTRNA1-3, HVG3, VAULTRC3|P|Vault RNA 1-3||612697|REc|||| | ||
5.426|12|17|12|5q31.1|VTRNA2-1, NC886, CBL3, VTRNA2|P|Vault RNA 2-1||614938|REn|||| | ||
5.427|8|28|01|5q32|SLC6A7, PROT|P|Solute carrier family 6 (neurotransmitter transporter, L-proline),|member 7|606205|REa, A|||| | |18(Slc6a7)|
5.428|10|30|03|5q31-q33|AITD2|P|Autoimmune thyroid disease, susceptibility to, 2||608174|Fd|||{Autoimmune thyroid disease, susceptibility to, 2} (2)| | ||
5.429|10|12|09|5q31-q33|ATOD6|P|Dermatitis, atopic, 6||605845|Fd|between D5S436 and D5S643||{Dermatitis, atopic, susceptibility to, 6} (2)| | ||
5.430|9|14|95|5q32|CDX1|C|Caudal type homeo box transcription factor 1||600746|REc, H, REn|100kb distal to CSF1R||| | |18(Cdx1)|
5.431|3|17|06|5q31-q33|CELIAC2|P|Celiac disease, susceptibility to, 2||609754|Fd|||{Celiac disease, susceptibility to, 2} (2)| | ||
5.432|9|9|08|5q33.2|CNOT8, CALIF, POP2|P|CCR4-NOT transcription complex, subunit 8||603731|REc|||| | ||
5.433|10|26|97|5q31-q33|EOS|P|Eosinophilia, familial||131400|Fd|||Eosinophilia, familial (2)| | ||
5.434|6|9|98|5q32|HTR4|P|5-hydroxytryptamine (serotonin) receptor-4||602164|A|||| | ||
5.435|1|25|05|5q31-q33|PFBI|C|Plasmodium falciparum blood infection levels||248310|Fd|||{Malaria, intensity of infection} (2)| | ||
5.436|12|29|99|5q32|PPP2R2B|P|Protein phosphatase 2, regulatory subunit B, beta||604325|R, REc|||Spinocerebellar ataxia 12, 604326 (3)| | ||
5.437|7|22|09|5q31.1|SEPT8, KIAA0202|P|Septin 8||608418|REc|||| | |11(Sept8)|
5.438|10|11|02|5q33.1|SLC36A1, LYAAT1, PAT1|P|Solute carrier family 36 (proton/amino acid symporter), member 1|(lysosomal amino acid transporter 1)|606561|REc|||| | ||
5.439|9|30|99|5q31-q33|SM1|C|Schistosoma mansoni infection, susceptibility/resistance to||181460|Fd|||{Schistosoma mansoni infection, susceptibility/resistance to} (2)| | ||
5.440|4|4|02|5q32|SCGB3A2, UGRP1|P|Secretoglobin, family 3A, member 2|(uteroglobin-related protein 1)|606531|H, A|||{Asthma, susceptibility to}, 600807 (3)| | |18(Ugrp1)|
5.441|11|15|05|5q31.1|C5orf20, DCNP1|P|Dendritic cell nuclear protein 1||609710|REc|||| | ||
5.442|3|28|11|5q31.1|CATSPER3, CACRC|P|Cation channel, sperm-associated, 3||609120|REc|||| | |13(Catsper3)|
5.443|7|11|93|5q31.3|CD14|C|CD14 antigen||158120|REa, A|||| | |18(Cd14)|
5.444|6|15|99|5q31.2|CDC23, APC8|P|Cell division cycle 23|(anaphase-promoting complex 8)|603462|REc, A|||| | ||
5.445|7|11|93|5q31.1|CSF2, GMCSF|C|Colony-stimulating factor-2 (granulocyte-macrophage)||138960|REa, A, RE, Fd|order: cen-CSF2-CSF1-FMS-qter||| | |11(Csfgm)|
5.446|7|11|93|5q31.2|EGR1|C|Early growth response-1||128990|REa, A|||| | |18(Egr1)|
5.447|10|24|00|5q31.2|ETF1, RF1, ERF1|P|Eukaryotic translation termination factor-1||600285|R|||| | ||
5.448|6|13|12|5q31.1|FBXL21, FBL21, FBXL3B, FBL3B|P|F-box and leucine-rich repeat protein 21||609087|REc|||| | ||
5.449|7|26|95|5q31.1|IGES|P|Immunoglobulin E concentration, serum||147061|Fd|||{?Allergy and asthma susceptibility} (2)| | ||
5.450|7|11|93|5q31.1|IL3|C|Interleukin-3||147740|REa, A, H, RE, D, Fd|9kb from CSF2; order: cen-5'IL3-5'CF2-qter||| | |11(Il3)|
5.451|7|11|93|5q31.1|IL4|C|Interleukin-4||147780|REa, A, RE|||| | |11(Il4)|
5.452|3|22|93|5q31.1|IL5|C|Interleukin-5||147850|Ch, A, RE, REn|< 310kb from IL4||| | |11(Il5)|
5.453|7|11|93|5q31.1|IL9|C|Interleukin-9||146931|REa, A|||| | |13(Il9)|
5.454|5|13|10|5q31.1|IRF1, MAR|C|Interferon regulatory factor-1||147575|Fd, REa, A, REn, D, Ch|||Myelodysplastic syndrome, preleukemic (3); Myelogenous leukemia,|acute (3); Gastric cancer, somatic, 613659 (3); Nonsmall cell lung cancer, somatic, 211980 (3)| |11(Irf1)|
5.455|5|26|13|5q31.1|PHF15, JADE2, KIAA0239|P|PHD finger protein 15||610515|R, Psh, REc|||| | |11(Phf15)|
5.456|3|14|07|5q31.1|RAPGEF6, RAGEF2, PDZGEF2|P|RAP guanine nucleotide exchange factor 6||610499|REc|||| | ||
5.457|9|2|03|5q31.1|RIL|P|LIM domain protein ril||603422|REc|||{Osteoporosis, susceptibility to}, 166710 (3)| | ||
5.458|4|2|09|5q31.1|SAR1B, CMRD, SARA2, ANDD|P|Sar1a, S. cerevisiae, homolog 2||607690|REc|||Chylomicron retention disease, 246700 (3)| | ||
5.459|5|23|13|5q31.1|SHROOM1, APXL2, KIAA1960|P|SHROOM family member 1||611179|REc|||| | ||
5.460|10|27|04|5q31.1|SLC22A5, OCTN2, CDSP, SCD|C|Solute carrier, family 22 (organic cation transporter), member 5||603377|Fd, H|||Carnitine deficiency, systemic primary, 212140 (3)| | |11(jvs)|
5.461|9|5|91|5q31.1|TCF7|P|Transcription factor-7, T-cell specific||189908|REa, A|originally called TCF-1||| | |11(Tcf7)|
5.462|4|8|13|5q31.1|UQCRQ, QPC, MC3DN4|P|Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kD||612080|R, REc|||Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)| | ||
5.463|3|26|96|5q31.1|HSPA4|P|Heat-shock 70kD protein-4||601113|A|||| | ||
5.464|10|14|98|5q31.1|LECT2|P|Leukocyte cell-derived chemotaxin 2||602882|A, REa|||| | |13(Lect2)|
5.465|9|11|12|5q34|GABRG2, GEFSP3, CAE2, ECA2|C|Gamma-aminobutyric acid (GABA) A receptor, gamma-2||137164|REn, R, Psh|in alpha/beta/gamma cluster||Epilepsy, generalized, with febrile seizures plus, type 3, 611277|(3); {Epilepsy, childhood absence, susceptibility to, 2}, 607681 (3); Febrile seizures, familial, 8, 611277 (3)| ||
5.466|1|31|01|5q31.1-q33.1|IDDM18|P|Insulin-dependent diabetes mellitus-18||605598|Fd|close to IL12B||{Diabetes mellitus, insulin-dependent, 18} (2)| | ||
5.467|2|25|09|5q33.3|IL12B, NKSF2|C|Interleukin-12B (natural killer cell stimulatory factor-2, cytotoxic|lymphocyte maturation factor-2, p40)|161561|R, REn, A|between GLR1 and GABRA1||BCG and salmonella infection, disseminated, 209950 (1); {Asthma,|susceptibility to}, 600807 (3) | |11(Il12b)|
5.468|2|26|09|5q31.1-q33.1|PSORS11|P|Psoriasis susceptibility 11||612599|Fd|associated with rs10045431||{Psoriasis susceptibility 11} (2)| | ||
5.469|4|7|94|5q34|GABRA6|C|Gamma-aminobutyric acid (GABA) A receptor, alpha-6||137143|REa, Fd, REc|||| | ||
5.470|9|12|11|5q31.2|HSPA9, HSPA9B, MOT2, GRP75|P|Heat-shock 70kD protein-9 (mortalin)||600548|A, REc|||| | |18,X(mot2)|
5.471|11|3|09|5q31.2|MATR3, MPD2|P|Matrin 3||164015|R, REc|||Myopathy, distal 2, 606070 (3)| | ||
5.472|9|23|08|5q31.3|NDUFA2|C|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD, B8)||602137|A, R|||Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)| | ||
5.473|10|17|12|5q23.3|HINT1, PRKCNH1, NMAN|P|Histidine triad nucleotide-binding protein 1 (protein kinase C|inhibitor 1)|601314|A|||Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)| | ||
5.474|12|21|10|5q31.2|PACAP, MGC29506|P|Proapoptotic caspase adaptor protein||609447|REc|||| | ||
5.475|3|26|07|5q31.2|LRRTM2, KIAA0416|P|Leucine-rich repeat transmembrane protein 2||610868|REc, H|||| | |18(Lrrtm2)|
5.476|8|20|07|5q31.2|PAIP2, PAIP2A|P|Polyadenylate-binding protein-interacting protein 2||605604|R, REc|||| | ||
5.477|1|20|06|5q31.1|PCBD2, DCOH2, DCOHM|P|Pterin-4-alpha-carbinolamine dehydratase 2||609836|REc|||| | ||
5.478|3|23|09|5q31.1|TIFAB|P|TRAF-interacting protein with forkhead-associated domain, family|member B|612663|REc|||| | |13(Tifab)|
5.479|10|29|08|5q31.2|TMEM173, STING, MPYS|P|Transmembrane protein 173||612374|REc|||| | ||
5.480|6|13|12|5q31.2|UBE2D2, UBCH5B, UBC4|P|Ubiquitin-conjugating enzyme E2D 2||602962|REc|||| | ||
5.481|8|31|09|5q31.2|SLC23A1, SVCT1|C|Solute carrier family 23 (nucleobase transporters), member 1|(sodium-dependent vitamin C transporter 1)|603790|R, REn, H|opposite orientation to MATR3||| | |18(Slc23a1)|
5.482|4|15|11|5q32|PDE6A, PDEA, RP43|C|Phosphodiesterase-6A, cGMP-specific, rod, alpha||180071|REa, REn, A|||Retinitis pigmentosa 43, 613810 (3)| | |18(Pde6a)|
5.483|10|30|06|5q31.3|ANKHD1, MASK, KIAA1085, VBARP|P|Ankyrin repeat and KH domain-containing protein 1||610500|REc|||| | ||
5.484|6|1|12|5q31.3|CENTD3, ARAP3|P|Centaurin, delta-3||606647|R, REc|||| | ||
5.485|5|12|09|5q31.2|CXXC5|P|CXXC finger protein 5||612752|REc|||| | ||
5.486|5|25|05|5q31.3|DND1|P|Dead end, zebrafish, homolog of, 1||609385|REc|||| | ||
5.487|2|28|12|5q31.3|HARS, USH3B|P|Histidyl-tRNA synthetase||142810|S, REc|||Usher syndrome type 3B, 614504 (3)| | ||
5.488|11|29|12|5q31.3|HARS2, HARSL, HARSR, HO3, PRLTS2|P|Histidyl-tRNA synthetase 2||600783|REc|||Perrault syndrome 2, 614926 (3)| | ||
5.489|4|20|11|5q31.3|IK, RED|P|IK cytokine, downregulator of HLA II||600549|R, REc|||| | ||
5.490|7|26|10|5q31.3|KCTD16, KIAA1317|P|Potassium channel tetramerization domain-containing 16||613423|R, REc|||| | ||
5.491|6|10|08|5q31.3|NDFIP1, N4WBP5|P|NEDD4 family-interacting protein 1||612050|REc|||| | ||
5.492|5|26|13|5q31.3|RELL2|P|Relt-like 2||611213|REc|||| | ||
5.493|6|11|13|5q31.3|SPRY4, HH17|P|Sprouty, Drosophila, homolog of||607984|A|||Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3)| | ||
5.494|8|31|09|5q31.3|SRA1|P|Steroid receptor RNA activator 1||603819|REc|||| | ||
5.495|10|25|12|5q31.1|H2AFY, MH2A1|P|H2A histone family, member Y||610054|R|||| | ||
5.496|12|22|10|5q31.3-q32|HHT3, ORW3|P|Hereditary hemorrhagic telangiectasia, type 3||601101|Fd|||Telangiectasia, hereditary hemorrhagic, type 3 (2)| | ||
5.497|7|11|93|5q33.1|SPARC, ON|C|Osteonectin (secreted protein, acidic, cysteine-rich)||182120|REa, A|||| | |11(Sparc)|
5.498|11|23|09|5q33.1|GM2A|C|GM2 ganglioside activator protein||613109|S, REa, Psh, A|pseudogene on chr.3||GM2-gangliosidosis, AB variant, 272750 (3)| | |11(Gm2a)|
5.499|5|19|06|5q32|ARSI|P|Arylsulfatase I||610009|REc|||| | ||
5.500|3|1|00|5q33.1|ATOX1, HAH1|C|Antioxidant protein 1 (ATX, yeast, homolog of)||602270|A|||| | ||
5.501|8|31|09|5q32|CAMK2A, KIAA0968, CAMKA|P|Calcium/calmodulin-dependent protein kinase II-alpha||114078|H, R, REc|||| | |18(Camk2a)|
5.502|6|10|94|5q32|CD74, DHLAG|C|CD74 antigen (invariant polypeptide of major histocompatibility|class II antigen-associated)|142790|S, REb, REa, A|||| | |18(Ii)|
5.503|1|9|13|5q32|CSF1R, FMS, HDLS|C|Colony-stimulating factor-1 receptor; oncogene FMS (McDonough|feline sarcoma)|164770|REa, A|FMS2 is 5' end||Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)| | |18(Fim2)|
5.504|1|13|11|5q32|CSNK1A1|P|Casein kinase-1, alpha-1 polypeptide||600505|REc|previously assigned to 13q13||| | ||
5.505|1|30|01|5q32|DPYSL3, ULIP, DRP3|P|Dihydropyrimidinase-like 3||601168|A|||| | ||
5.506|9|1|12|5q33.1|GLRA1, STHE, HKPX1|C|Glycine receptor, alpha-1 polypeptide||138491|Fd, R, A|||Hyperekplexia, hereditary 1, autosomal dominant or recessive,|149400 (3) | |11(spd)|Ryan (1992a, 1992b)
5.507|3|23|06|5q31.3|HLA-HB1|P|Minor histocompatibility antigen HB-1||609961|REc|||| | ||
5.508|3|27|13|5q33.3|ITK, EMT, LPFS1|C|T-cell-specific tyrosine kinase; homolog of mouse T-cell itk/tsk|tyrosine kinase|186973|A|||Lymphoproliferative syndrome 1, 613011 (3)| | |11(Itk)|
5.509|5|23|13|5q32|JAKMIP2, JAMIP2, NECC1, KIAA0555|P|Janus kinase and microtubule-interacting protein 2||611197|REc, R|||| | ||
5.510|10|7|13|5q32|LARS, LFIS|C|Leucyl-tRNA synthetase||151350|S, H, REc|mutation identified in 1 family||?Liver failure, infantile, syndromic, 615438 (3)| | ||
5.511|9|12|13|5q32|PDGFRB, PDGFR, IBGC4, IMF1|C|Platelet-derived growth factor receptor, beta polypeptide||173410|REa, A, REn|fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic|myeloproliferative disorders|Myeloproliferative disorder with eosinophilia, 131440 (4);|Basal ganglia calcification, idiopathic, 4, 615007 (3); Myofibromatosis, infantile, 1, 228550 (3)| |18(Pdgfr)|
5.512|5|13|10|5q33.1|RPS14, EMTB|C|Ribosomal protein S14||130620|S, REc|||Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550|(3) | ||
5.513|6|7|10|5q32|SH3RF2, HEPP1|P|SH3 domain-containing RING finger protein 2||613377|REc|||| | ||
5.514|8|20|10|5q32|SH3TC2, KIAA1985, MNMN|P|SH3 domain and tetratricopeptide repeat domain 2||608206|REc|||Charcot-Marie-Tooth disease, type 4C, 601596 (3); Mononeuropathy of|the median nerve, mild, 613353 (3) | ||
5.515|11|22|13|5q33.1|SMIM3, NID67|P|Small integral membrane protein 3||608324|REc|||| | ||
5.516|12|20|11|5q32|SPINK1, PSTI, PCTT, TATI, TCP|C|Serine protease inhibitor, Kazal type I (pancreatic secretory trypsin|inhibitor)|167790|REb|||Pancreatitis, hereditary, 167800 (3); {Fibrocalculous pancreatic|diabetes, susceptibility to}, 608189 (3); Tropical calcific pancreatitis, 608189 (3)| ||
5.517|5|6|13|5q32|SPINK13|P|Serine protease inhibitor, Kazal-type, 13||615205|REc|||| | ||
5.518|9|18|01|5q32|SPINK5, LEKTI|P|Serine protease inhibitor, Kazal type, 5||605010|A, Fd|||Netherton syndrome, 256500 (3); Atopy, 147050 (3)| | ||
5.519|10|2|07|5q31.3|YIPF5, SMAP5, YIP1A|P|Yip1 domain family, member 5||611483|REc|||| | ||
5.520|5|20|99|5q33.3|ADAM19, MLTNB|P|A disintegrin and metalloproteinase domain-19 (meltrin-beta, mouse,|homolog of)|603640|R|||| | |11(Adam19)|
5.521|11|5|99|5q33.1|FAT2, MEGF1|P|Fat tumor suppressor, Drosophila, homolog of, 2||604269|R|||| | ||
5.522|8|28|01|5q35.1|GABRP|P|Gamma-aminobutyric acid receptor, pi||602729|REc|||| | ||
5.523|6|15|99|5q31.3|PCDH1, PC42|P|Protocadherin 1 (cadherin-like 1)||603626|Psh|||| | |18(Pcdh1)|
5.524|1|30|96|5q33.1|GPX3|C|Glutathione peroxidase-3, plasma||138321|REa, REn|||| | ||
5.525|4|30|09|5q32|SLC26A2, DTD, DTDST, D5S1708, EDM4|C|Solute carrier family 26 (sulfate transporter), member 2|(diastrophic dysplasia sulfate transporter)|606718|Fd, REn|distal to APC||Diastrophic dysplasia, 222600 (3); Atelosteogenesis II, 256050 (3);|Achondrogenesis Ib, 600972 (3); Epiphyseal dysplasia, multiple, 4, 226900 (3); Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3); De la|Chapelle dysplasia, 256050 (3) ||
5.526|1|31|11|5q32|TCOF1, MFD1, TCS1|C|Treacle||606847|Ch, Fd|prox. to SPARC||Treacher Collins syndrome 1, 154500 (3)| | |18(Tcof1)|
5.527|5|7|03|5q33.1|TNIP1, NAF1, KIAA0113|P|TNFAIP3-interacting protein 1||607714|REc|||| | ||
5.528|3|5|98|5q33.3|TTC1, TPR1|P|Tetratricopeptide repeat domain-1||601963|REa|||| | ||
5.529|6|13|95|5q33.2|MFAP3|P|Microfibrillar-associated protein-3||600491|REa|||| | ||
5.530|11|2|98|5q33.1|NDST1, HSST|C|N-deacetylase/N-sulfotransferase|(heparan sulfate-N-deacetylase/N-sulfotransferase)|600853|REn|||| | ||
5.531|12|16|05|5q32|ADRB2|C|Adrenergic, beta-2-, receptor, surface||109690|S, REa, A, Fd, RE|||{Asthma, nocturnal, susceptibility to}, 600807 (3); {Obesity,|susceptibility to}, 601665 (3); Beta-2-adrenoreceptor agonist, reduced response to (3)| |18(Adrb2)|
5.532|2|1|90|5q33.1|ANXA6, CBP68|C|Annexin A6 (calcium-binding protein p68)||114070|REa, A, REn|||| | ||
5.533|8|28|97|5q34|CCNG1|P|Cyclin G1||601578|A|||| | |11(Ccng1)|
5.534|4|5|00|5q32|IL17B|P|Interleukin 17B||604627|R|||| | ||
5.535|7|11|93|5q33.3|ADRA1B|C|Adrenergic, alpha-1B-, receptor||104220|REa, A, RE|||| | |11(Adra1)|
5.536|3|1|94|5q33.2|GRIA1, GLUR1|C|Glutamate receptor, ionotropic, AMPA 1||138248|A, REa, R|||| | |11(Glur1)|
5.537|2|28|08|5q33.2|MRPL22|P|Mitochondrial ribosomal protein L22||611835|R|||| | ||
5.538|1|18|13|5q33.3|NIPAL4, ICHYN, ARCI6|C|NIPA-like domain-containing 4||609383|Fd, REc|||Ichthyosis, congenital, autosomal recessive 6, 612281 (3)| | ||
5.539|4|17|06|5q32|PPARGC1B, PGC1B, PERC|P|Peroxisome proliferator-activated receptor-gamma, coactivator 1, beta||608886|REc|||{Obesity, variation in}, 601665 (3)| | ||
5.540|9|3|99|5q33.3|PTTG1, EAP1, TUTR1|P|Pituitary tumor-transforming gene 1||604147|A, R|||| | ||
5.541|2|12|02|5q33.2-q33.3|SGCD, SGD, LGMD2F, CMD1L|C|Sarcoglycan, delta (35kD dystrophin-associated glycoprotein)||601411|REa, A, Fd|mutant in Syrian hamster cardiomyopathy||Muscular dystrophy, limb-girdle, type 2F, 601287 (3); Cardiomyopathy,|dilated, 1L, 606685 (3) | ||
5.542|12|29|06|5q35.3|F12, HAF, HAE3|C|Coagulation factor XII (Hageman factor)||610619|REa, A|||Factor XII deficiency, 234000 (3); Angioedema, hereditary, type III,|610618 (3) | ||
5.543|9|5|91|5q32|RPS20B|P|Ribosomal protein S20B||180464|REa|?pseudogene||| | ||
5.544|1|5|12|5q32|AFAP1L1|P|Actin filament-associated protein 1-like 1||614410|REc|||| | ||
5.545|8|31|12|5q33.1|DCTN4, P62, DYN4|P|Dynactin 4||614758|REc|||| | ||
5.546|12|24|13|5q32|FBXO38, FBX38, MOKA, HMN2D|C|F-box only protein 38||608533|REc|||Neuronopathy, distal hereditary motor, type IID, 615575 (3)| | |18(Fbxo38)|
5.547|9|2|11|5q33.1|G3BP1, G3BP|P|GTPase-activating protein SH3 domain-binding protein 1||608431|REc, R|||| | ||
5.548|4|15|11|5q33.1|IRGM, LRG47, IFI1, IBD19|P|Immunity-related GTPase family, M||608212|REc|||{Mycobacterium tuberculosis, protection against}, 607948 (3);|Inflammatory bowel disease 19, 612278 (3) | ||
5.549|2|3|05|5q33.2|KIF4B|P|Kinesin family member 4B||609184|A|||| | ||
5.550|3|23|09|5q32|MIR143, MIRN143|P|Micro RNA 143||612117|REc|||| | ||
5.551|3|23|09|5q32|MIR145, MIRN145|P|Micro RNA 145||611795|REc|||| | ||
5.552|3|23|09|5q32|MIR378, MIRN378|P|Micro RNA 378||611957|REc|||| | ||
5.553|5|19|06|5q33.1|NMUR2, NMU2R, FM4|P|Neuromedin U receptor 2||605108|REc|||| | ||
5.554|12|4|08|5q33.1|RBM22|P|RNA-binding motif protein 22||612430|REc|||| | ||
5.555|4|20|10|5q33.1|SLC36A2, PAT2|P|Solute carrier family 36 (proton/amino acid symporter), member 2||608331|REc, H|||Iminoglycinuria, digenic, 242600 (3); Hyperglycinuria, 138500 (3)| | |11(Slc36a2)|
5.556|12|15|10|5q32|SPINK9, LEKTI2|P|Serine protease inhibitor, Kazal-type, 9||613511|REc|||| | ||
5.557|3|22|07|5q33.1|SYNPO|P|Synptopodin||608155|R, REc|||| | ||
5.558|12|18|08|5q33.1|ZNF300|C|Zinc finger protein 300||612429|REc|||| | ||
5.559|3|4|10|5q33.1-q35.2|FECD5, FCD3|P|Corneal dystrophy, Fuchs endothelial, 5||613269|Fd|flanked by D5S470 and D5S2108||Corneal dystrophy, Fuchs endothelial, 5 (2)| | ||
5.560|1|26|97|5q35.1|LCP2, SLP76|P|Lymphocyte cytosolic protein-2 (SH2 domain-containing leukocyte|protein of 76kD)|601603|Fd|||| | ||
5.561|1|27|04|5q33.2|GALNT10, GalNAcT10|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 10|608043|R, REc|||| | ||
5.562|8|31|09|5q33.2|GEMIN5|P|GEM-associated protein 5||607005|R, REc|||| | ||
5.563|8|25|04|5q33.3|HAVCR1, HAVCR|P|Hepatitis A virus cellular receptor 1||606518|REc, H|||{Atopy, resistance to}, 147050 (3)| | ||
5.564|12|7|07|5q34|HMMR|C|Hyaluronan-mediated motility receptor (RHAMM)||600936|REa, H, REc|||{Breast cancer, susceptibility to}, 114480 (3)| | |11(hmmr)|
5.565|6|10|08|5q33.2|LARP1, LARP, KIAA0731|P|La ribonucleoprotein domain family, member 1||612059|REc|incorrectly mapped to chromosome 10||| | ||
5.566|8|19|13|5q33.2|SAP30L|P|SAP30-like protein||610398|REc|||| | ||
5.567|1|30|02|5q33.3|TIM3|P|T-cell immunoglobulin- and mucin-domain-containing molecule||606652|REc|||| | |11(Tim3)|
5.568|8|19|13|5q33.3|TIMED4, TIM4, SMUCKLER|P|T-cell immunoglobulin and mucin domains-containing protein 4||610096|REc, H|||| | |11(Tim4)|
5.569|5|31|13|5q33.3|C5orf54, ZBED8, BUSTER3|P|Chromosome 5 open reading frame 54||615253|REc|||| | ||
5.570|5|4|09|5q33.3|CLINT1, EPN4, EPNR, KIAA0171|C|Clathrin interactor 1 (epsin 4)||607265|R, Fd|||| | ||
5.571|11|15|08|5q33.3|CYFIP2|P|Cytoplasmic FMRP interacting protein 2||606323|R, REc|||| | ||
5.572|8|31|09|5q33.3|MED7, CRSP9, CRSP33|P|Mediator complex subunit 7||605045|R, REc|||| | ||
5.573|2|23|09|5q34|MIR146A, MIRN146A|P|Micro RNA 146A||610566|REc|||| | ||
5.574|2|7|06|5q33.3|UBLCP1|P|Ubiquitin-like domain-containing CTD phosphatase 1||609867|REc|||| | ||
5.575|12|14|95|5q35.1|DUSP1, CL100, PTPN10|C|Dual specificity phosphatase-1||600714|A, REc|||| | ||
5.576|8|10|98|5q33.3|EBF, OLF1|P|Early B-cell factor (olfactory neuronal transcription factor 1)||164343|REa, A|||| | |11(Ebf)|
5.577|1|23|01|5q35.1|FGF18|P|Fibroblast growth factor-18||603726|R|||| | ||
5.578|12|7|07|5q35.1|FOXI1, FKHL10, FREAC6|C|Forkhead box I1||601093|A|some patients have digenic mutations with SLC26A4||Enlarged vestibular aqueduct, 600791 (3)| | ||
5.579|5|6|04|5q35.1|KCNMB1|C|Potassium large conductance calcium-activated channel, subfamily M,|beta member 1|603951|Psh, A|||{Hypertension, diastolic, resistance to}, 608622 (3)| | ||
5.580|12|21|09|5q34|MIR103-1, MIRN103-1|P|Micro RNA 103-1||613187|REc|||| | ||
5.581|9|23|13|5q35.1|NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2|C|NK2 homeobox-5 gene||600584|A, Psh, REc|near border with 5q35||Atrial septal defect 7, with or without AV conduction defects,|108900 (3); Tetrology of Fallot, 187500 (3); Hypothyroidism, congenital nongoitrous, 5, 225250 (3); Ventricular septal defect 3, 614432 (3);|Hypoplastic left heart syndrome 2, 614435 (3); Conotruncal heart malformations, variable, 217095 (3)|17(Csx)|
5.582|4|3|12|5q34|ODZ2, TNM2, KIAA1127|P|ODZ, Drosophila, homolog of, 2||610119|REc|||| | ||
5.583|1|3|02|5q35.1|RANBP17|P|RAN-binding protein 17||606141|Ch|||| | ||
5.584|8|13|99|5q35.1|USP12, UBH1|P|ubiquitin-specific protease 12 (ubiquitin-hydrolyzing enzyme 1)||603091|A|||| | ||
5.585|1|12|95|5q34|GABRB2|P|Gamma-aminobutyric acid (GABA) A receptor, beta-2||600232|Psh|||| | ||
5.586|10|6|09|5q34|GABRA1, EJM5, ECA4|C|Gamma-aminobutyric acid (GABA) A receptor, alpha-1||137160|A, R, Fd, REn|in same 200kb as GABRG2||{Epilepsy, juvenile myoclonic, susceptibility to, 5}, 611136 (3);|{Epilepsy, childhood absence, susceptibility to, 4}, 611136 (3) | |11(Gabra1)|
5.587|6|15|99|5q35.3|GFPT2, GFAT2|P|Glutamine: fructose-6-phosphate amidotransferase 2||603865|R, H|||| | |11(Gfat2)|
5.588|6|7|04|5q35.2|MSX2, CRS2, HOX8|C|msh, Drosophila, homeo box homolog of, 2||123101|Fd, REa, A|||Craniosynostosis, type 2, 604757 (3); Parietal foramina 1, 168500|(3); Parietal foramina with cleidocranial dysplasia, 168550 (3) | ||
5.589|11|4|05|5q34-q35.2|NIDDM4|P|Diabetes mellitus, noninsulin-dependent, 4||608036|Fd|||{Diabetes mellitus, noninsulin-dependent}, 125853 (2)| | ||
5.590|6|1|07|5q34|WWC1, KIBRA, KIAA0869|P|WW, C2, and coiled-coil domain-containing 1||610533|REc|||[Memory, enhanced, association with] (3)| | ||
5.591|8|28|01|5p13.3-p13.2|ADAMTS12|P|A disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 12|606184|REa, R|||| | ||
5.592|8|18|98|5q35|AMCN, AMCN1|P|Arthrogryposis multiplex congenital, neurogenic||208100|Fd, LD|||Arthrogryposis multiplex congenita, neurogenic (2)| | ||
5.593|8|28|01|5q35.3|BTNL3|P|Butyrophilin-like protein 3||606192|REa, R|||| | ||
5.594|2|28|94|5q35.3|CANX|P|Calnexin||114217|REa, A|||| | ||
5.595|10|23|87|5q35|CHR|C|Chromate resistance (sulfate transport)||118840|S|||| | ||
5.596|6|9|06|5q35.3|COL23A1|P|Collagen, type XXIII, alpha-1||610043|REc|||| | |11(Col23a1)|
5.597|5|29|12|5q35.3|GRK6, GPRK6|P|G protein-coupled receptor kinase 6||600869|REa|||| | ||
5.598|1|31|13|5q35.3|GRM6, MGLUR6, CSNB1B|C|Glutamate receptor, metabotropic, 6||604096|REa, A|||Night blindness, congenital stationary (complete), 1B, autosomal|recessive, 257270 (3) | ||
5.599|7|1|11|5q35.3|LTC4S|P|Leukotriene C4 synthase||246530|A|||Leukotriene C4 synthase deficiency, 614037 (1)| | ||
5.600|2|23|09|5q35.3|MAML1|C|Mastermind, Drosophila, homolog of, 1||605424|R, REc|||| | ||
5.601|11|20|98|5q35.3|MAPK9, PRKM9, JNK2|P|Mitogen-activated protein kinase 9||602896|A|||| | ||
5.602|11|4|98|5q35.3|MGAT1, GLYT1|C|Mannosyl (alpha-1,3-)-glycoprotein beta-1,2,|N-acetylglucosaminyltransferase|160995|REa, A|||| | |11(Glyt1)|
5.603|3|8|00|5q35.3|MGAT4B|P|Alpha-1,3-mannosyl-glycoprotein|beta-1,4-N-acetylglucosaminyltransferase, isozyme B|604561|A|||| | ||
5.604|9|2|12|5q35.2-q35.3|NSD1, ARA267, STO, SOTOS1|C|Nuclear receptor binding SET domain protein 1||606681|A|fusion gene with NUP98 in AML||Sotos syndrome 1, 117550 (3); Leukemia, acute myeloid, 601626 (1);|Beckwith-Wiedemann syndrome, 130650 (3) | ||
5.605|2|7|05|5q35.1|NPM1|P|Nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin)||164040|Ch, A|fused with RARA in APL||Leukemia, acute promyelocytic, NPM/RARA type (3); Leukemia, acute|myeloid, 601626 (3) | ||
5.606|7|9|06|5q34|PANK3|P|Pantothenate kinase 3||606161|REn|||| | ||
5.607|3|25|02|5q35.3|SCGB3A1, HIN1|P|Secretoglobin, family 3A, member 1||606500|A|||| | ||
5.608|6|7|10|5q35.3|SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2|C|Solute carrier family 34 (sodium phosphate cotransporter), member 1||182309|Psh, A, R, REc|||Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3);|Fanconi renotubular syndrome 2, 613388 (3) | |13(Slc17a2)|
5.609|6|15|99|5q34-q35|SLIT3, SLIL2, MEGF5|P|Slit, Drosophila, homolog of, 3||603745|R|||| | ||
5.610|6|21|05|5q35.2|SNCB|P|Synuclein, beta||602569|A|||Dementia, Lewy body, 127750 (3)| | ||
5.611|8|4|09|5q35.3|SQSTM1, P62, PDB3|C|Sequestosome 1||601530|R, Fd|||Paget disease of bone, 602080 (3)| | ||
5.612|6|5|08|5q35.1|UBTD2, DCUBP, MGC30022|P|Ubiquitin domain-containing protein 2||610174|REc|||| | ||
5.613|2|25|08|5q35.2|UIMC1, RAP80|P|Ubiquitin interaction motif containing 1||609433|A|||| | ||
5.614|6|22|12|5q35.1|BNIP1, NIP1|P|BCL2/adenovirus E1B 19kD protein-interacting protein 1||603291|REc|||| | ||
5.615|9|9|08|5q35.1|DOCK2|P|Dedicator of cytokinesis 2||603122|R, Psh, REc|||| | ||
5.616|8|24|92|5q35.2|DRD1|C|Dopamine receptor D1||126449|REa, A, Fd, REn, R|same 300kb fragment as GRL||| | ||
5.617|5|13|09|5q35.1|FBXW11, FBXW1B, BTRC2, BTRCP2|C|F-box and WD40 domain protein 11||605651|R, A|||| | |11(Fbxw11)|
5.618|3|29|10|5q35.1|SH3PXD2B, TKS4, KIAA1295, FTHS|P|SH3 and PX domains-containing protein 2B||613293|REc|||Frank-ter Haar syndrome, 249420 (3)| | |11(Sh3pxd2b)|
5.619|6|22|99|5q35.1|STK10, LOK|P|Serine/threonine protein kinase-10||603919|A|||| | |11(Stk10)|
5.620|7|15|02|5q35.1|TLX3, HOX11L2, RNX|C|T-cell leukemia, homeobox 3||604640|R, A|activated in T-cell ALL||| | |11(Hox11l2)|
5.621|2|20|03|5q35.2|FGFR4|C|Fibroblast growth factor receptor-4||134935|REa, A, R|distal to DRD1||{Cancer progression/metastasis} (3)| | |13(Fgfr4)|
5.622|9|29|10|5q35.2|CLTB|P|Clathrin, light polypeptide (Lcb)||118970|REa, A, REc|previously mapped to chr. 4||| | ||
5.623|8|20|07|5q35.1|ATP6V0E, ATP6H|P|ATPase, H+ transporting, lysosomal 9kD V0 subunit e||603931|R, REc|previously mapped to Chr.2||| | ||
5.624|8|17|09|5q35.2|CPLX2, CPX2|P|Complexin 2||605033|R, REc|||| | ||
5.625|5|26|13|5q35.2|GPRIN1, GRIN1, KIAA1893|P|G protein-regulated inducer of neurite outgrowth 1||611239|REc|||| | ||
5.626|9|28|96|5q35.2|HK3|C|Hexokinase-3, white cell||142570|A, Psh|||| | ||
5.627|7|7|09|5q35.2|MENOQ4|P|Menopause, natural, age at, QTL4||612886|Fd|associated with rs365132, rs7718874, rs402511, rs691141, rs2278493||{Menopause, natural, age at, QTL4} (2)| | ||
5.628|7|13|09|5q35.2|NOP15, HSPC111|P|Nop16, S. cerevisiae, homolog of||612861|REc|||| | ||
5.629|7|15|09|5q35.3|PFN3|P|Profilin 3||612812|REc|||| | ||
5.630|12|29|13|5q35.2|SFXN1|P|Sideroflexin 1||615569|REc|||| | |13(Sfxn1)|
5.631|8|31|09|5q35.2|THOC3, TEX1|P|THO complex 3 (Tex1, yeast, homolog of)||606929|R, REc|||| | ||
5.632|7|7|09|5q35.2|UNC5A, UNC5H1|P|UNC5, C. elegans, homolog of, A||607869|REc|||| | ||
5.633|8|2|13|5q35.3|B4GALT7, XGALT1, XGPT1, EDSP1|C|Xylosylprotein 4-beta-galactosyltransferase, polypeptide 7||604327|REc, A|||Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3)| | ||
5.634|1|14|13|5q35.3|AGXT2L2, PHLU|P|Alanine-glyosylate aminotransferase 2-like 2||614683|REc|||[Phosphohydroxylysinuria], 615011 (3)| | ||
5.635|9|9|08|5q35.3|CNOT6, CCR4, KIAA1194|P|CCR4-NOT transcription complex, subunit 6||608951|R, REc|||| | ||
5.636|8|31|09|5q35.3|DBN1|P|Drebrin-1||126660|REb, REc|||| | |13(Dbn1)|
5.637|10|29|03|5q35.3|DDX41, ABS|P|DEAD/H box 41||608170|R|||| | ||
5.638|7|26|10|5q35.3|DOK3, DOKL|P|Docking protein 3||611435|REc|||| | ||
5.639|5|13|02|5q35.3|FLT4, VEGFR3, PCL, LMPH1A|C|fms-related tyrosine kinase-4 (vascular endothelial growth factor|receptor 3)|136352|A, R, Fd|||Lymphedema, hereditary I, 153100 (3); Hemangioma, capillary|infantile, somatic, 602089 (3) | |11(Flt4)|
5.640|8|8|13|5q35.3|GNB2L1, RACK1|P|Guanine nucleotide-binding protein, beta-2-like 1||176981|R, REc|||| | ||
5.641|3|25|96|5q35.3|HNRPH1|P|Heterogeneous nuclear ribonucleoprotein H||601035|A|||| | ||
5.642|6|30|05|5q35.3|MXD3, MAD3|P|MAX dimerization protein 3||609450|REc|||| | ||
5.643|7|1|11|5q35.3|NOLA2, NHP2, DKCB2|P|Nucleolar protein family A, member 2||606470|R, REc|||Dyskeratosis congenita, autosomal recessive 2, 613987 (3)| | ||
5.644|3|8|04|5q35.3|PDLIM7, ENIGMA|C|PDZ and LIM domain 7 (enigma)||605903|R|||| | ||
5.645|8|31|09|5q35.3|RGS14|P|Regulator of G protein signaling 14||602513|REc|||| | ||
5.646|7|22|09|5q35.3|PRELID1, PRELI, PX19|P|PRELI domain-containing protein 1||605733|R, REc|||| | ||
5.647|12|18|08|5q35.3|RAB24|P|Ras-associated protein 24||612415|R, REc|||| | ||
5.648|8|19|13|5q35.3|RUFY1|P|RUN and FYVE domains-containing protein 1||610327|R, REc|||| | ||
5.649|3|18|98|5q35.3|TCF17, KID1|P|Transcription factor-17||602444|A|||| | |11(Tcf17)|
5.650|7|1|05|5q35.3|TRIM7, GNIP|P|Tripartite motif-containing protein 7||609315|R, REc|||| | ||
5.651|10|30|06|5q35.3|TRIM41|P|Tripartite motif-containing 41||610530|REc|||| | ||
5.652|4|21|10|5q35.3|ZFP62|P|Zinc finger protein 62||610281|R, REc|||| | |11(Zfp62)|
5.653|9|1|09|5q35.3|TRNAP3, TRP3|P|tRNA proline-3||189912|REa, A|||| | ||
5.654|9|1|09|5q35.3|TRNAT1, TRT1|P|tRNA threonine-1||189913|REa, A|||| | ||
6.1|1|16|07|6p21.2|ZFAND3, TEX27|P|Zinc finger AN1 domain-containing protein 3||607455|R, REc|||| | ||
6.2|2|17|09|6pter-p24|DEL6pter, C6DELpter|P|Chromosome 6pter-p24 deletion syndrome||612582|Ch|||Chromosome 6pter-p24 deletion syndrome (4)| | ||
6.3|2|28|03|6p21.33|MDC1, NFBD1, KIAA0170|P|Mediator of DNA damage checkpoint protein 1||607593|Psh|||| | ||
6.4|4|23|09|6p21.1|CNPY3, TNRC5, PRAT4A, ERDA5|P|Canopy 3, zebrafish, homolog of||610774|R, REc|||| | ||
6.5|10|1|95|6p25.2|ELANH2, EI|C|Protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived||130135|Psh, R|||| | ||
6.6|3|8|91|6p21.31|CLPS|C|Colipase, pancreatic||120105|REa|||| | ||
6.7|5|9|07|6p21.31|ITPR3|C|Inositol 1,4,5-triphosphate receptor, type 3||147267|REa, A|||{Diabetes, type 1, susceptibility to}, 222100 (2)| | ||
6.8|8|1|13|6p25.3|EXOC2, SEC5L1, SEC5|P|Exocyst complex component 2||615329|REc|||| | ||
6.9|12|4|98|6p25.3|FOXF2, FKHL6, FREAC2|P|Forkhead box F2||603250|A, R|||| | ||
6.10|1|17|08|6p25.3|SHEP8|P|Skin/hair/eye pigmentation, variation in, 8||611724|Fd|associated with dbSNP rs1540771||[Skin/hair/eye pigmentation 8, freckling] (2)| | ||
6.11|11|15|05|6p25.3|HUS1B|P|Hydroxyurea-sensitive 1, S. pombe, homolog of, B||609713|REc|||| | ||
6.12|12|4|03|6p24.3|CTAG3, CAGE1|P|Cancer/testis antigen 3||608304|REc|||| | ||
6.13|4|22|10|6p25.3-p22.3|INTLQ3|P|Intelligence quantitative trait locus 3||610294|Fd|||{Intelligence QTL3} (2)| | ||
6.14|7|20|12|6p25.2|FAM60B, X5L|C|Family with sequence similarity 50, member B||614686|A, REc|||| | ||
6.15|9|10|09|6p25.2|PRPF4B, PRP4|P|Pre-mRNA processing factor 4, yeast, homolog of, B||602338|R, REc|||| | ||
6.16|1|2|08|6p25.2|SLC22A23, C6orf85|P|Solute carrier family 22, member 23||611697|REc|||| | |19(Slc22a23)|
6.17|3|14|13|6p25.2|TUBB2A|P|Tubulin, beta-2A||615101|REc|||| | ||
6.18|10|24|12|6p25.2|TUBB2B, PMGYSA|P|Tubulin, beta-2B||612850|REc|TUBB2A is 70kb telomeric to TUBB2B||Polymicrogyria, symmetric or asymmetric, 610031 (3)| | ||
6.19|10|29|03|6p25.2|WRNIP1, WHIP|P|Werner helicase-interacting protein 1||608196|REc|||| | ||
6.20|9|1|09|6p25.1|CDYL|P|Chromodomain protein on Y chromosome-like||603778|R, REc|||| | |13(Cdyl)|
6.21|12|15|12|6p25.1|FARS2, FARS1, COXPD14|P|Phenylalanyl-tRNA synthetase 2, mitochondrial||611592|R, REc|||Combined oxidative phosphorylation deficiency 14, 614946 (3)| | ||
6.22|1|9|14|6p25.1|LYRM4, ISD11, C6orf149, COXPD19|P|LYR motif-containing protein 4||613311|REc|mutation identified in 1 family||?Combined oxidative phosphorylation deficiency 19, 615595 (3)| | ||
6.23|9|10|09|6p25.1|NRN1, NRN|P|Neuritin 1||607409|R, REc|||| | ||
6.24|9|10|09|6p25.1|RPP40|P|Ribonuclease P, 40kD subunit||606117|R, REc|||| | ||
6.25|9|18|08|6p24.3|EEF1E1|P|Eukaryotic translation elongation factor 1, epsilon-1||609206|REc|||| | ||
6.26|10|26|98|6p25.2|BPHL|P|Biphenyl hydrolase-like||603156|A|||| | ||
6.27|1|27|09|6p25|CLLS4|P|Leukemia, chronic lymphocytic susceptibility to, 4||612558|Fd|associated with rs872071||{Leukemia, chronic lymphocytic susceptibility to, 4} (2)| | ||
6.28|3|6|09|6p25.3|FOXC1, FKHL7, FREAC3, IRID1, RIEG3|C|Forkhead, Drosophila, homolog-like 7||601090|A|||Iridogoniodysgenesis, type 1, 601631 (3); Rieger or Axenfeld|anomalies, 602482 (3); Axenfeld-Rieger syndrome, type 3, 602482 (3); Iris hypoplasia and glaucoma, 601631 (3)| |13(Fkhl7, ch, Mfl)|
6.29|5|19|09|6p25.3|FOXQ1, HFH1|C|Forkhead box Q1||612788|A, REc, H|||| | |13(Foxq1)|
6.30|11|20|98|6p25.3|GMDS|P|GDP-mannose 4,6-dehydratase||602884|A|||| | ||
6.31|4|15|04|6p25|LRSL|P|Larsen-like syndrome||608545|Ch|||Larsen-like syndrome (2)| | ||
6.32|4|6|10|6p25.2|NQO2, NMOR2|C|NAD(P)H dehydrogenase, quinone 2|(NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2)|160998|REa|||{?Breast cancer susceptibility}, 114480 (1)| | ||
6.33|11|5|97|6p25.2|PI9, CAP3, SERPINB9|P|Protease inhibitor 9, ovalbumin type||601799|A|||| | ||
6.34|5|28|98|6p24.3|RREB1|P|RAS-responsive element binding protein-1||602209|Psh, R, A|||| | ||
6.35|7|8|10|6p25.2|SERPINB6, PI6, PTI, SPI3, DFNB91|C|Protease inhibitor 6 (placental thrombin inhibitor)||173321|Psh, R, A|||Deafness, autosomal recessive 91, 613453 (3)| | |13(Spi3)|
6.36|11|2|11|6p25.1|F13A1, F13A|C|Coagulation factor XIII, A polypeptide||134570|F, Fd, A, D|||Factor XIIIA deficiency, 613225 (3); {Myocardial infarction,|protection against}, 608446 (3); {Venous thrombosis, protection against}, 188050 (3)| ||
6.37|1|11|02|6p25.3|IRF4, LSIRF|C|Interferon regulatory factor-4||601900|A, Ch|disregulated in t(6;14)||Multiple myeloma, 254500 (3)| | ||
6.38|9|2|08|6p24.3|HULC|P|Highly upregulated in liver cancer||612210|REc|||| | ||
6.39|9|1|95|6p24.3|OFC1, CL|C|Orofacial cleft-1 (cleft lip with or without cleft palate; isolated|cleft palate)|119530|Fd, Ch|probable heterogeneity||Orofacial cleft-1 (2)| | ||Eiberg (1987); Donnai (1992)
6.40|4|17|13|6p24.3|BLOC1S5, BLOS5, MUTED|P|Biogenesis of lysosome-related organelles complex 1, subunit 5||607289|H, REc|||| | |13(mu)|
6.41|3|15|07|6p24.3|SLC35B3, PAPST2|P|Solute carrier family 25 (3'-phosphoadenosine 5'-phosphosulfate|transporter), member B3|610845|REc|||| | ||
6.42|6|13|12|6p24.3|SSR1|P|Signal sequence receptor, alpha||600868|REc|||| | ||
6.43|2|23|08|6p24.2|ELOVL2, SSC2|P|Elongation of very long chain fatty acids-like 2||611814|REc|||| | ||
6.44|11|29|04|6p24.2|GCMB|P|Glial cells missing, Drosophila, homolog of, B||603716|REc|||Hypoparathyroidism, familial isolated, 146200 (3)| | ||
6.45|8|25|11|6p24.2|MAK, RP62|P|Male germ cell-associated kinase||154235|H, REc|||REtinitis pigmentosa 62, 614181 (3)| | |13(Mak)|
6.46|9|10|12|6p24.2|NEDD9, HEF1, CASL|P|Neural precursor cell expressed, developmentally downregulated 9||602265|R, REc|||| | ||
6.47|12|28|08|6p24.2|PAK1IP1, PIP1|P|PAK1-interacting protein||607811|R, REc|||| | ||
6.48|7|22|13|6p24.2|TMEM14C|P|Transmembrane protein 14C||615318|REc|||| | ||
6.49|11|19|11|6p24.1|C6orf105, ADTRP|P|Chromosome 6 open reading frame 105|(androgen-dependent TFPI-regulating protein)|614348|REc|||| | ||
6.50|5|26|13|6p24.2|ERVFRD-1|P|Endogenous retrovirus group FRD, member 1||610524|REc|||| | ||
6.51|7|16|12|6p24.1|PHACTR1, KIAA1733|P|Phosphatase and actin regulator 1||608723|REc|||| | ||
6.52|12|5|13|6p24.1|TBC1D7, PIG51, TBC7, MGCPH|P|TBC1 domain family, member 7||612655|REc|mutation identified in 1 family||?Megalencephaly, autosomal recessive, 248000 (3)| | ||
6.53|7|1|11|6p24.1-p22.3|DFNA21|P|Deafness, autosomal dominant 21||607017|Fd|previously mapped to 6p21.3||Deafness, autosomal dominant 21 (2)| | ||
6.54|7|22|09|6p24.3|DSP, KPPS2, PPKS2|C|Desmoplakin||125647|REa, REc, Fd|splice variants result in DP I and DP II||Keratosis palmoplantaris striata II, 612908 (3); Dilated|cardiomyopathy with woolly hair and keratoderma, 605676 (3); Arrhythmogenic right ventricular dysplasia 8, 607450 (3); Skin fragility-woolly hair syndrome,|607655 (3); Epidermolysis bullosa, lethal acantholytic, 609638 (3) ||
6.55|11|19|11|6p24.3|OFCC1, MRDS1|P|OFC1 candidate gene 1||614287|REc|||| | ||
6.56|6|27|08|6p24.3|TFAP2A, AP2TF, BOFS|C|Transcription factor AP-2 alpha (activating enhancer-binding protein|2 alpha)|107580||||Branchiooculofacial syndrome, 113620 (3)| | |13(Tcfap2)|
6.57|2|18|98|6p24.3|BMP6|C|Bone morphogenetic protein-6||112266|REa, REc|||| | ||
6.58|12|17|07|6p24.1|EDN1|C|Endothelin-1||131240|REa, A, Fd|||| | |13(Edn1)|
6.59|8|6|13|6p24.3-p24.2|GCNT2, Ii, CTRCT13|C|Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme||600429|A|previously assigned to 9q21||[Blood group, Ii], 110800 (3); Cataract 13 with adult i phenotype,|110800 (3); Adult i phenotype without cataract, 110800 (3) | ||
6.60|8|18|97|6p22.3|JMJ|P|Jumonji||601594|A|||| | |13(jmj)|
6.61|11|3|92|6p24.1|HIVEP1, ZNF40|C|Human immunodeficiency virus type I enhancer-binding protein-1||194540|REa, A, REc|||| | ||
6.62|5|4|00|6p23|CD83, HB15, BL11|P|CD83 antigen||604534|REc|||| | |13(Cd83)|
6.63|12|13|96|6p22.3|ATXN1, ATX1, SCA1|C|Ataxin-1||601556|F, Fd, A|||Spinocerebellar ataxia 1, 164400 (3)| | |13(Sca1, Atx1)|
6.64|2|22|00|6p22.3|DEK, D6S231E|P|DEK oncogene||125264|Ch|fused with CAN in t(6;9)||Leukemia, acute nonlymphocytic (2)| | ||
6.65|8|24|12|6p23|ETM3|P|Tremor, hereditary essential, 3||611456|Fd|max lod at D6S1630 and D6S1605||Tremor, hereditary essential, 3 (2)| | ||
6.66|3|18|94|6p22.3|GMPR, GMPR1|C|Guanosine monophosphate reductase||139265|REb, A|||| | ||
6.67|1|22|08|6p22.3|MBOAT1|P|Membrane-bound O-acetyltransferase domain-containing 1||611732|REc|||| | ||
6.68|1|5|09|6p23|NOL7|P|Nucleolar protein 7||611533|A|||| | ||
6.69|6|13|02|6p23|RANBP9, RANBPM|P|RAN-binding protein 9||603854|R, REc|||| | ||
6.70|12|14|98|6p23|SCZD3|C|Schizophrenia susceptibility locus, chromosome 6-related||600511|Fd|?same as DTNBP1; cognitive deficit type||{Schizophrenia}, 181500 (2)| | ||
6.71|9|10|09|6p23|SIRT5|P|Sirtuin, S. cerevisiae, homolog 5||604483|R, REc|||| | ||
6.72|4|26|06|6p22.3|MYLIP, MIR|P|Myosin regulatory light chain-interacting protein||610082|REc|||| | ||
6.73|8|19|98|6p22.2|SLC17A1, NPT1|P|Solute carrier family 17, sodium phosphate, member-1|(Sodium phosphate transport 1, kidney)|182308|REa|||| | |13(Slc17a1)|
6.74|1|19|07|6p23-p21|SCAR3, SCABD|P|Spinocerebellar ataxia, autosomal recessive 3||271250|Fd|||Spinocerebellar ataxia, autosomal recessive 3 (2)| | ||
6.75|7|1|05|6p22.1|TRIM31, HCGI|C|Tripartite motif-containing protein 31||609316|REc, R|||| | ||
6.76|8|20|09|6p21.1|MEA1, MEA|P|Male-enhanced antigen 1||143170|REb, REa|||| | ||
6.77|9|2|09|6p22.1|TRNAM2, TRNAMI2, RNTMI2|P|tRNA methionine-2||180620|REa|2 of 12+ RNTMI genes are on chr. 6||| | ||
6.78|9|1|09|6p22.2|TRNAM1, TRMI2, TRM2, RNTMT1|P|tRNA methionine-1||180621|REa|||| | ||
6.79|5|6|13|6p22.3|BWQTL4|P|Birth weight quantitative trait locus 4||615192|Fd|associated with rs7756992||[Birth weight QTL4] (2)| | ||
6.80|8|6|07|6p22.3|CDKAL1|P|CDK5 regulatory subunit-associated protein 1-like 1||611259|REc|||{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853|(3) | ||
6.81|3|15|10|6p22.3|CIHL|L|Hearing loss, cisplatin-induced, susceptibility to||613290|Fd|associated with rs12201199||{?Hearing loss, cisplatin-induced, susceptibility to} (2)| | ||
6.82|11|4|04|6p22.3|DTNBP1, HPS7|P|Dystrobrevin-binding protein 1 (dysbindin)||607145|R, Fd|||{Schizophrenia}, 181500 (2); Hermansky-Pudlak syndrome 7, 614076 (3)| | |13(Dtnbp1)|
6.83|10|13|09|6p22.3|KDM1B, LSD2, AOF1|P|Lysine-specific demethylase 1B||613081|REc|||| | ||
6.84|7|20|12|6p22.3|KIF13A|P|Kinesin family member 13A||605433|REc|||| | ||
6.85|9|12|03|6p22.3|NHLRC1, EPM2A, EPM2B|C|NHL repeat-containing 1 gene (malin)||608072|REc, Fd|||Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)| | ||
6.86|9|10|09|6p22.3|NUP153|P|Nucleoporin, 153kD||603948|R, REc|||| | ||
6.87|1|31|11|6p21.1|POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3|P|Polymerase I, RNA, subunit C||610060|REc|||Treacher Collins syndrome 3, 248390 (3)| | ||
6.88|6|12|07|6p22.3-p21.3|OTSC3|P|Otosclerosis 3||608244|Fd|||Otosclerosis 3 (2)| | ||
6.89|9|30|98|6p22.3|SOX4|P|SRY (sex determining region Y)-box 4||184430|REa, A|||| | |13(Sox4)|
6.90|11|30|06|6p22.3|TPMT|P|Thiopurine S-methyltransferase||187680|Psh, A|||6-mercaptopurine sensitivity, 610460 (3)| | ||
6.91|9|23|08|6p22.3|FAM65B, C6orf32, KIAA0386, PL48|P|Family with sequence similarity 65, member B||611410|R, REc|||| | ||
6.92|7|18|06|6p22.3-p21.2|DFNB66|P|Deafness, autosomal recessive 66||610212|Fd|||Deafness, autosomal recessive 66 (2)| | ||
6.93|9|2|09|6p22.1|TRNAA1|P|tRNA alanine-1||601431|REa, A|||| | ||
6.94|9|2|09|6p22.2|TRNAR3, TRR3|P|tRNA arginine-3||601432|REa, A|||| | ||
6.95|8|27|01|6p22.3|TTRAP|P|TRAF- and TNF receptor-associated protein||605764|REc|||| | ||
6.96|3|8|07|6p22.1|ZNF323|P|Zinc finger protein 323||610794|REc|||| | ||
6.97|12|5|13|6p22.3-p22.2|CMAHP, CMAH|P|Cytidine monophospho-N-acetylneuraminic acid hydroxylase pseudogene||603209|A|mutation inactivates gene in humans||| | |13(Cmah)|
6.98|12|15|10|6p22.2|HISTH2AA, H2AFR, H2AA|P|Histone gene cluster 1, H2A histone family, member A||613499|REc|||| | ||
6.99|2|21|06|6p22.2|HIST1H2BA, TSH2B|P|Histone 1, H2BA||609904|REc|||| | ||
6.100|3|18|05|6p22.3|KIAA0319, DYX2, DYLX2, DLX2|C|KIAA0319 gene||609269|Fd, REc|||{Dyslexia, susceptibility to, 2}, 600202 (3)| | ||
6.101|9|22|08|6p22.2|LRRC16A, LRRC16, CARMIL|P|Leucine-rich repeat-containing protein 16A||609593|R, REc|||| | |13(Lrrc16)|
6.102|7|22|13|6p22.2|TRNAR2|P|Transfer RNA arginine 2||615305|REc|||| | ||
6.103|7|22|13|6p22.2|TRNAV21|P|Transfer RNA valine 21||615306|REc|||| | ||
6.104|8|15|90|6p22.3|PRL|C|Prolactin||176760|REa, D|?between 6cen and GLO1||| | |11(Prl)|
6.105|8|24|09|6p22.1|ZSCAN12, ZNF96, KIAA0426|P|Zinc finger- and SCAN domain-containing protein 12||603978|R, REc|||| | ||
6.106|2|1|11|6p22.2|BTN1A1, BTN|P|Butyrophilin||601610|REc|||| | |13(Btn)|
6.107|2|1|11|6p22.2|BTN2A1, BTF1|P|Butyrophilin, subfamily 2, member A1||613590|REc|||| | ||
6.108|2|1|11|6p22.2|BTN2A2, BTF2|P|Butyrophilin, subfamily 2, member A2||613591|REc|||| | ||
6.109|2|1|11|6p22.2|BTN2A3|P|Butyrophilin, subfamily 2, member A3||613592|REc|||| | ||
6.110|2|1|11|6p22.2|BTN3A1, BTF5, CD277|P|Butyrophilin, subfamily 3, member A1||613593|REc|||| | ||
6.111|2|1|11|6p22.2|BTN3A2, BTF4|P|Butyrophilin, subfamily 3, member A2||613594|REc|||| | ||
6.112|2|1|11|6p22.2|BTN3A3, BTF3|P|Butyrophilin, subfamily 3, member A3||613595|REc|||| | ||
6.113|3|19|01|6p22.3|GPLD1, PIGPLD, GPIPLD|P|Phospholipase D1, glycosylphosphatidylinositol-specific||602515|A|||| | |13(Gpld1)|
6.114|11|19|11|6p22.1|GPX5|P|Glutathione peroxidase 5 (epididymal)||603435|REc|||| | |13(Gpx5)|
6.115|9|9|13|6p22.1|GPX6|P|Glutathione peroxidase 6||607913|REc|||| | ||
6.116|3|6|08|6p22.3|KAAG1, RU2AS|P|Kidney-associated antigen 1||608211|A|||| | ||
6.117|2|21|13|6p22.1|OR2J3, C3HEXS|P|Olfactory receptor, family 2, subfamily J, member 3||615016|REc|||[C3HEX, ability to smell], 615082 (3)| | ||
6.118|5|29|13|6p22.1|SCAND3, ZBED9, BUSTER4, KIAA1925|P|SCAN domain-containing protein 3||615254|REc|||| | ||
6.119|7|22|09|6p22.1|STQTL18|P|Stature quantitative trait locus 18||612892|Fd|associated with rs10946808||{Stature QTL 18} (2)| | ||
6.120|7|22|13|6p22.1|TRNAT15|P|Transfer RNA threonine 15||615309|REc|||| | ||
6.121|7|22|13|6p22.1|TRNAV12|P|Transfer RNA valine 12||615307|REc|||| | ||
6.122|7|22|13|6p22.1|TRNAV17|P|Transfer RNA valine 17||615308|REc|||| | ||
6.123|11|15|08|6p22.1|ZFP57, TNDM1|P|Zinc finger protein 57, mouse, homolog of||612192|R, REc, Fd, Ch|||Diabetes mellitus, transient neonatal, 1, 601410 (3)| | ||
6.124|7|16|02|6p22.1|TRIM39, RNF23, TFP|P|Tripartite motif-containing 39||605700|A|||| | ||
6.125|3|22|01|6p22.3|DCDC2, RU2, KIAA1154|C|Doublecortin domain-containing protein 2||605755|A|||| | ||
6.126|5|26|09|6p22.1|ZKSCAN3, ZNF306|P|Zinc finger protein with KRAB and SCAN domains 3||612791|REc|||| | ||
6.127|3|15|07|6p22.2|ZNF322A, ZNF322A, ZNF489, ZNF322|P|Zinc finger protein 322A||610847|REc|||| | ||
6.128|5|19|06|6p22.3|ALDH5A1, SSADH|C|Succinic semialdehyde dehydrogenase||610045|REa, REc|||Succinic semialdehyde dehydrogenase deficiency, 271980 (3)| | ||
6.129|11|7|08|6p22|ALPQTL3|P|Alkaline phosphatase, plasma level of, QTL 3||612368|Fd|linkage with rs9467160||{Alkaline phosphatase, plasma level of, QTL3} (2)| | ||
6.130|2|23|95|6p22.3|E2F3|P|E2F transcription factor 3||600427|A|||| | ||
6.131|9|22|09|6p22|NBLST4|P|Neuroblastoma, susceptibility to, 4||613015|Fd|associated with rs6939340, rs4712653, rs9295536||{Neuroblastoma, susceptibility to, 4} (2)| | ||
6.132|9|10|09|6p22.1|TRIM27, RFP|P|Tripartite motif-containing 27||602165|REc|||| | ||
6.133|2|14|03|6p22.1|HIST1H1B, H1F5|P|Histone 1, H1b||142711|REa|~2Mb centromeric of H1F1 cluster||| | ||
6.134|1|14|13|6p22.1|HIST1H2AG, H2AG, H2AFP|P|Histone gene cluster 1, H2A histone family, member 6||615012|REc|||| | ||
6.135|1|14|13|6p22.1|HIST1H2AH, H2AH|P|Histone gene cluster 1, H2A histone family, member H||615013|REc|||| | ||
6.136|4|3|03|6p22.1|HIST1H2AI, H2AFC|P|Histone 1, H2ai||602787|REc|||| | ||
6.137|4|3|03|6p22.1|HIST1H2AK, HIST1H2AI, H2AFD|P|Histone 1, H2ak||602788|REc|||| | ||
6.138|4|3|03|6p22.1|HIST1H2AJ, HIST1H2AK, H2AFE|P|Histone 1, H2aj||602791|REc|||| | ||
6.139|2|14|03|6p22.1|HIST1H2AL, H2AFI|P|Histone 1, H2al||602793|REc|||| | ||
6.140|2|14|03|6p22.1|HIST1H2AM, H2AFN|P|Histone 1, H2am||602796|REc|||| | ||
6.141|1|31|13|6p22.1|HIST1H2BJ, H2BJ|P|Histone gene cluster 1, H2B histone family, member J||615044|REc|||| | ||
6.142|1|31|13|6p22.1|HIST1H2BK, H2BK|P|Histone gene cluster 1, H2B histone family, member K||615045|REc|||| | ||
6.143|3|11|03|6p22.1|HIST1H2BL, H2BFC|P|Histone 1, H2bl||602800|REc|||| | ||
6.144|3|11|03|6p22.1|HIST1H2BM, H2BFE|P|Histone 1, H2bm||602802|REc|||| | ||
6.145|3|11|03|6p22.1|HIST1H2BN, H2BFD|P|Histone 1, H2bn||602801|REc|||| | ||
6.146|4|3|03|6p22.1|HIST1H2BO, H2BFN|P|Histone 1, H2bo||602808|REc|||| | ||
6.147|3|11|03|6p22.1|HIST1H3I, H3FF|P|Histone 1, H3i||602814|REc|in cluster of 16 histone genes centromeric of major cluster||| | ||
6.148|3|11|03|6p22.1|HIST1H3J, H3FJ|P|Histone 1, H3j||602817|REc|in 2nd cluster on 6p||| | ||
6.149|3|11|03|6p22.1|HIST1H3H, H3FK|P|Histone 1, H3h||602818|REc|in minor cluster on 6p||| | ||
6.150|3|11|03|6p22.1|HIST1H4J, H4FE|P|Histone 1, H4j||602826|REc|||| | ||
6.151|3|11|03|6p22.1|HIST1H4K, H4FD|P|Histone 1, H4k||602825|REc|||| | ||
6.152|3|11|03|6p22.1|HIST1H4L, H4FK|P|Histone 1, H4l||602831|REc|||| | ||
6.153|6|13|95|6p22.3|ID4|P|Inhibitor of DNA binding 4, dominant negative helix-loop-helix|protein|600581|A|||| | ||
6.154|8|27|02|6p22.1|PRSS16, TSSP|P|Protease, serine, 16||607169|REc|||| | |13(Prss16)|
6.155|10|19|99|6p22.2|SLC17A4|P|Solute carrier family 17 (sodium phosphate), member 4||604216|REa, R|||| | ||
6.156|6|11|11|6p21.31|FANCE, FACE|P|Fanconi anemia, complementation group E gene||613976|Fd, LD|||Fanconi anemia, complementation group E, 600901 (3)| | ||
6.157|10|29|99|6p21.33|ABCF1, ABC50|P|ATP-binding cassette 50, TNF-alpha stimulated||603429|A|||| | ||
6.158|12|5|13|6p21.33|ATAT1, MEC17, C6orf134|P|Alpha-tubulin acetyltransferase 1||615556|REc|||| | ||
6.159|4|27|10|6p21.3|ATPLS|L|Antiphospholipid syndrome, familial||107320|Fd|possible linkage with HLA-DRB1*14||?Antiphospholipid syndrome, familial (2)| | ||
6.160|4|28|10|6p21.33|AIF1, IRT1|C|Allograft inflammatory factor 1||601833|R, REn|part of TNF block||| | ||
6.161|9|22|09|6p21.33|FL1|P|Follicular lymphoma, susceptibility to, 1||613024|Fd|associated with rs6457327||{Follicular lymphoma, susceptibility to, 1} (2)| | ||
6.162|2|18|09|6p21.33|LNCR4|P|Lung cancer susceptibility 4||612593|Fd|associated with rs3117582 and rs3131379||{Lung cancer susceptibility 4} (2)| | ||
6.163|3|23|09|6p21.33|MIR877, MIRN877|P|Micro RNA 877||611619|REc|||| | ||
6.164|7|20|12|6p21.33|VWA7, C6orf27, G7C|P|von Willebrand factor A domain-containing protein 7||609693|REc|||| | |17(G7c)|
6.165|12|18|07|6p22.1|ZKSCAN4, ZNF307|P|Zinc finger with KRAB and SCAN domains 4||611643|REc|||| | ||
6.166|2|21|06|6p21.32|EGFL8|P|Epidermal growth factor-like 8||609897|R, REc|||| | |17(Eglf8)|
6.167|12|15|10|6p21.32|HLA-DQA2, HLA-DXA|P|Major histocompatibility complex, class II, DQ alpha-2||613503|REc|||| | ||
6.168|8|17|13|6p21.32|HLA-DQB2, HLA-DXB|P|Major histocompatibility complex, class II, DQ beta-2||615161|REc|||| | ||
6.169|3|23|09|6p21.32|MRI219-1, MIRN219-1|P|Micro RNA 219-1||611500|REc|||| | ||
6.170|9|2|08|6p21.31|C6orf106|P|Chromosome 6 open reading frame 106||612217|REc|||| | ||
6.171|2|24|12|6p21.31|C6orf126, M19|P|Chromosome 6 open reading frame 125||614461|REc|||| | ||
6.172|5|23|13|6p21.31|DEF6, IBP, SLAT|P|Def6, mouse, homolog of||610094|REc, H|||| | |17(Def6)|
6.173|1|18|13|6p21.31|PNPLA1, ARCI10|P|Patatin-like phospholipase domain-containing protein 1||612121|REc|||Ichthyosis, congenital, autosomal recessive 10, 615024 (3)| | ||
6.174|11|1|13|6p21.1|PRICKLE4, C6orf49, OBTP|P|Prickle, Drosophila, homolog of, 4||611389|REc|||| | |17(Prickle4)|
6.175|7|3|13|6p21.31|SLC26A8, TAT1, SPGF3|P|Solute carrier family 26 (sulfate transporter), member 8||608480|REa, REc|||Spermatogenic failure 3, 606766 (3)| | ||
6.176|9|10|09|6p21.31|SNRPC|P|Small nuclear ribonucleoprotein polypeptide C||603522|R, REc|||| | ||
6.177|7|22|09|6p21.31|STQTL19|P|Stature quantitative trait locus 19||612893|Fd|associated with rs1776897||{Stature QTL 19} (2)| | ||
6.178|9|10|09|6p21.31|TAF11, TAF2I, TAFII28|P|TAF11 RNA polymerase II, TATA box-binding protein-associated factor,|28kD|600772|R, REc|||| | ||
6.179|9|8|11|6p21.33|ABHD16A, BAT5, D6S82E|P|Abhydrolase domain-containing 16A||142620|RE|||| | ||
6.180|1|11|95|6p21.32|AGER, RAGE|P|Advanced glycosylation end product-specific receptor||600214|RE, A|at junction of classes II, III MHC||| | ||
6.181|10|15|98|6p21.32|AGPAT1, LPAATA|P|1-acylglycerol-3-phosphate O-acyltransferase 1|(lysophosphatidic acid acyltransferase-alpha)|603099|REn|||| | ||
6.182|11|2|04|6p21.31|ANKS1, ODIN, KIAA0229|P|Ankyrin repeat and sterile alpha motif domains-containing protein 1||608994|R, REc|||| | ||
6.183|9|10|09|6p21.33|ATF6B, CREBL1|P|Activating transcription factor 6 beta||600984|REc|||| | ||
6.184|7|18|02|6p21.33|ATP6V1G2, ATP6G|P|ATPase, H+ transporting, lysosomal, 13kD, V1 subunit G isoform 2||606853|REc|||| | ||
6.185|11|4|98|6p21.32|B3GALT4|C|UDP-galactose:beta-N-acetylglucosamine|beta-1,3-galactosyltransferase 4|603095|REc, REn|||| | ||
6.186|9|8|11|6p21.33|BAG6, BAT3, D6S52E|P|BCL2-associated athanogene 6||142590|RE|||| | ||
6.187|12|10|08|6p21.32|BRD2, RING3, FSRG1|P|Bromodomain-containing protein 2||601540|REn, Fd|between HLA-DNA and HLA-DMA||| | ||
6.188|11|7|08|6p21.32|BTNL2, SS2|P|Butyrophilin-like protein 2||606000|REc|||{Sarcoidosis, susceptibility to, 2}, 612387 (3)| | ||
6.189|12|27|13|6p21.33|C2, ARMD14|C|Complement component-2||613927|F, LD, RE|no crossover with BF||C2 deficiency, 217000 (3); {Macular degeneration, age-related, 14,|reduced risk of}, 615489 (3) | |17(C2)|
6.190|12|19|11|6p21.33|C4A, C4S, C4AD|C|Complement component-4A||120810|F, H, RE, Fd|order:  HLA-B, C2, BF, C4A, C4B, CYP21, DR||C4a deficiency, 614380 (3); [Blood group, Rodgers], 614374 (3);|?Systemic lupus erythematosus, susceptibility to or protection against}, 152700 (2)| |17(C4)|
6.191|12|19|11|6p21.33|C4B, C4F, C4BD|C|Complement component-4B||120820|F, H, RE, Fd|10kb from C4S||C4B deficiency, 614379 (3)| | |17(C4)|
6.192|9|15|10|6p21.31|C6orf1, LBH|P|Chromosome 6, open reading frame 1||611419|REc|opposite strand, tail-to-tail with HMGA1||| | ||
6.193|10|28|09|6p21.33|CCHCR1, HCR, C6ORF18|P|Coiled-coil alpha-helical rod protein 1||605310|REn|?role in psoriasis||| | ||
6.194|6|15|11|6p21.33|CDSN, HTSS1, PSS|C|Corneodesmosin||602593|REn, Fd|||Hypotrichosis simplex of scalp 1, 146520 (3); Peeling skin syndrome,|270300 (3) | ||
6.195|12|27|13|6p21.33|CFB, BF, GBG, AHUS4, ARMD14|C|Complement factor B||138470|F, RE|no crossover with C2; less than 1kb from C2, 30kb from C4;|C2, BF, C4A, C4B = class III|{Macular degeneration, age-related, 14, reduced risk of}, 615489 (3);|{Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3) | |17(Bf)|
6.196|3|9|12|6p21.32|COL11A2, STL3, DFNA13, DFNB53, FBCG2|C|Collagen XI, alpha-2 polypeptide||120290|REa, A, REn, Fd|45kb centromeric of HLA-DPB2; 3'--5'-cen||Stickler syndrome, type III, 184840 (3); Otospondylomegaepiphyseal|dysplasia, 215150 (3); Weissenbacher-Zweymuller syndrome, 277610 (3); Deafness, autosomal dominant 13, 601868 (3); Deafness, autosomal recessive 53, 609706|(3); Fibrochondrogenesis 2, 614524 (3) |17(Col11a2)|
6.197|7|16|09|6p21.3|CTEPH1|P|Pulmonary hypertension, chronic thromboembolic, without deep vein|thrombosis, susceptibility to|612862|Fd|associated with DPB1*0202||{Pulmonary hypertension, chronic thromboembolic, without deep vein|thrombosis, susceptibility to} (2) | ||
6.198|10|11|96|6p21.33|CSNK2B|C|Casein kinase-2, beta polypeptide||115441|REb, A|||| | ||
6.199|3|24|11|6p21.33|CYP21A2, CYP21, CA21H|C|Cytochrome P450, subfamily XXIA, polypeptide 2|(steroid 21-hydroxylase)|613815|F, RE|linked to C2, C4, BF; 2 loci, A and B; only B active; pseudogene|CYP21P contiguous on 6p|Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency,|201910 (3); Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)| |17(Cyp21)|
6.200|3|20|97|6p21.3|D6S207E, HLA-HA2|P|Minor histocompatibility antigen HA-2||600642|REn|||| | ||
6.201|10|26|98|6p21.32|DAXX|P|Deat-associated protein 6||603186|A|||| | ||
6.202|11|6|00|6p21.33|DDAH2|P|Dimethylarginine dimethylaminohydrolase-2||604744|R, A|||| | ||
6.203|9|8|11|6p21.33|DDX39B, BAT1, D6S81E|P|DEAD box polypeptide 39Bipt-1||142560|RE|5 BATs in 160kb segment including also TNFA, TNFB||| | ||
6.204|9|18|08|6p21.3|DFNA31|P|Deafness, autosomal dominant 31||608645|Fd|between D6S276 and D6S273||Deafness, autosomal dominant 31 (2)| | ||
6.205|4|30|09|6p21.33|DHX16, DDX16, DBP2, PRP8|C|DEAH (Asp-Glu-Ala-His) box polypeptide 16||603405|R, A|||| | ||
6.206|7|17|01|6p21.33|DOM3Z|P|DOM3, C. elegans, homolog of, Z||605996|REc|||| | ||
6.207|4|26|11|6p21.33|DPCR1, C6orf37|P|Diffuse panbronchiolitis critical region gene 1||613928|REc|||| | ||
6.208|6|1|11|6p21.33|EHMT2, GAT8, G9A, NG36|P|Euchromatic histone-lysine N-methyltransferase 2||604599|REc|||| | ||
6.209|9|10|09|6p21.33|FLOT1|P|Flotillin 1||606998|R, REc|||| | ||
6.210|1|29|01|6p21.33|G8|P|G8 protein||605447|REc|||| | ||
6.211|9|14|95|6p21.33|GNL1, HSR1|P|Guanine nucleotide-binding protein-like 1||143024|REn|||| | ||
6.212|9|8|11|6p21.33|GPANK1, BAT4, D6S54E|P|G patch domain- and ankyrin repeats-containing protein 1||142610|RE|||| | ||
6.213|3|7|01|6p21.31|GRM4, MGLUR4|P|Glutamate receptor, metabotropic, 4||604100|R|||| | ||
6.214|4|21|97|6p21.33|GTF2H4|P|General transcription factor IIH, polypeptide 4||601760|A|||| | ||
6.215|6|7|10|6p21.33|HCP5, 6S2650E|P|Major histocompatibility complex, class I, gene P5-1||604676|REc|||| | ||
6.216|4|26|11|6p21.33|HCG22, PBMUCL2|P|HLA complex group 22||613918|REc|||| | ||
6.217|3|11|03|6p22.2|HIST1H1A, H1F1|C|Histone 1, H1a||142709|Psh, A|||| | ||
6.218|3|11|03|6p22.2|HIST1H1C, H1F2|P|Histone 1, H1c||142710|REa, A|||| | |13(Hist1)|
6.219|3|11|03|6p22.2|HIST1H1D, H1F3|C|Histone 1, H1d||142210|A, Psh|||| | ||
6.220|3|11|03|6p22.2|HIST1H1E, H1F4|C|Histone 1, H1e||142220|A|previously mapped to 12q||| | ||
6.221|3|11|03|6p22.2|HIST1H1T, H1FT|P|Histone 1, H1t||142712|REc|||| | ||
6.222|2|14|03|6p22.2|HIST1H2AB, H2AFM|P|Histone 1, H2ab||602795|REc|||| | ||
6.223|3|11|03|6p22.2|HIST1H2AC, H2AFL|P|Histone 1, H2ac||602794|REc|||| | ||
6.224|3|11|03|6p22.2|HIST1H2AD, H2AFG|P|Histone 1, H2ad||602792|Rn|||| | ||
6.225|3|11|03|6p22.2|HIST1H2AE, H2AFA|P|Histone 1, H2ae||602786|REc|||| | ||
6.226|2|14|03|6p22.2|HIST1H2BB, H2BFF|P|Histone 1, H2bb||602803|REc|||| | ||
6.227|3|11|03|6p22.2|HIST1H2BC, H2BFL|P|Histone 1, H2bc||602847|REc|||| | ||
6.228|3|11|03|6p22.2|HIST1H2BD, H2BFB|P|Histone 1, H2bd||602799|REc|||| | ||
6.229|2|14|03|6p22.2|HIST1H2BE, H2BFH|P|Histone 1, H2be||602805|REc|||| | ||
6.230|4|3|03|6p22.2|HIST1H2BF, H2BFG|P|Histone 1, H2bf||602804|REc|||| | ||
6.231|2|14|03|6p22.2|HIST1H2BG, H2BFA|P|Histone 1, H2bg||602798|REc|||| | ||
6.232|3|11|03|6p22.2|HIST1H2BH, H2BFJ|P|Histone 1, H2bh||602806|REc|||| | ||
6.233|3|11|03|6p22.2|HIST1H2BI, H2BFK|P|Histone 1, H2bi||602807|REc|||| | ||
6.234|3|11|03|6p22.2|HIST1H3A, H3FA|P|Histone 1, H3a||602810|REc|||| | ||
6.235|3|11|03|6p22.2|HIST1H3B, H3FL|P|Histone 1, H3fl||602819|REc|in major cluster on 6p||| | ||
6.236|3|11|03|6p22.2|HIST1H3C, H3FC|P|Histone 1, H3c||602812|REc|||| | ||
6.237|3|11|03|6p22.2|HIST1H3D, H3FB|P|Histone 1, H3d||602811|REc|||| | ||
6.238|12|14|01|6p22.2|HIST1H3E, H3FD, H3.1|P|Histone 1, H3e||602813|REc|in cluster of 35 histone genes||| | ||
6.239|3|11|03|6p22.2|HIST1H3F|P|Histone 1, H3f||602816|REc|||| | ||
6.240|3|11|03|6p22.2|HIST1H3G, H3FH|P|Histone 1, H3g||602815|REc|||| | ||
6.241|3|11|03|6p22.2|HIST1H4A, H4FA|P|Histone 1, H4a||602822|REc|||| | ||
6.242|3|11|03|6p22.2|HIST1H4B, H4FI|P|Histone 1, H4b||602829|REc|||| | ||
6.243|3|11|02|6p22.2|HIST1H4C, H4FG|P|Histone 1, H4c||602827|REc|||| | ||
6.244|3|11|03|6p22.2|HIST1H4D, H4FB|P|Histone 1, H4d||602823|REc|||| | ||
6.245|3|11|03|6p22.2|HIST1H4E, H4FJ|P|Histone 1, H4e||602830|REc|||| | ||
6.246|3|11|03|6p22.2|HIST1H4F, H4FC|P|Histone 1, H4f||602824|REc|||| | ||
6.247|3|11|03|6p22.2|HIST1H4G, H4FL|P|Histone 1, H4g||602832|REc|||| | ||
6.248|3|11|93|6p22.2|HIST1H4H, H4FH|P|Histone 1, H4h||602828|REc|||| | ||
6.249|2|14|03|6p22.1|HIST1H4I, H4FM, H4M|P|Histone 1, H4i||602833|A|||| | ||
6.250|9|1|11|6p22.2|HFE, HLA-H, HFE1, MVCD7, TFQTL2|C|Hemochromatosis gene||613609|LD, F|||Hemochromatosis, 235200 (3); {Microvascular complications of diabetes|7}, 612635 (3); {Porphyria variegata, susceptibility to}, 176200 (3); {Porphyria cutanea tarda, susceptibility to}, 176100 (3); {Alzheimer disease,|susceptibility to}, 104300 (3); [Transferrin serum level QTL2], 614193 (3) |13(Mr2, Hfe)|
6.251|6|13|11|6p22.1|HLA-A|C|Major histocompatibility complex, class I, A||142800|F|||{Hypersensitivity syndrome, carbamazepine-induced, susceptibility|to}, 608579 (3) | |17(H2)|
6.252|6|13|11|6p21.33|HLA-B, SPDA1|C|Major histocompatibility complex, class I, B||142830|F, REn, Fd|||{Spondyloarthropathy, susceptibility to, 1}, 106300 (3); {Abacavir|hypersensitivity, susceptibility to} (3); {Synovitis, chronic, susceptibility to} (3); {Drug-induced liver injury due to flucloxacillin} (3); {Toxic|epidermal necrolysis, susceptibility to}, 608579 (3); {Stevens-Johnson syndrome, susceptibility to}, 608579 (3)||
6.253|3|16|10|6p21.33|HLA-C, PSORS1|C|Major histocompatibility complex, class I, C||142840|F, REn|||{Psoriasis susceptibility 1}, 177900 (3); {HIV-1|viremia, susceptibility to}, 609423 (3) | |17(H2L)|
6.254|5|24|90|6p22.1|HLA-F, HLA-CDA12, HLAF|C|Major histocompatibility complex, class I, F||143110|REn, Fd|||| | ||
6.255|1|8|95|6p21.32|HLA-DMA, RING6|P|Major histocompatibility complex, class II, DM alpha||142855|D|||| | ||
6.256|1|8|95|6p21.32|HLA-DMB, RING7|P|Major histocompatibility complex, class II, DM beta||142856|D|||| | ||
6.257|7|6|95|6p21.32|HLA-DOB|P|Major histocompatibility complex, class II, DO beta||600629|RE|||| | ||
6.258|10|23|87|6p21.32|HLA-DPA1, HLADP|C|Major histocompatibility complex, class II, DP alpha-1||142880|F, RE|2 different alpha, 2 different beta chains||| | ||
6.259|10|28|93|6p21.32|HLA-DPB1|C|Major histocompatibility complex, class II, DP beta-1||142858|F, RE|||{Beryllium disease, chronic, susceptibility to} (3)| | ||
6.260|10|31|07|6p21.32|HLA-DQA1, CELIAC1|C|Major histocompatibility complex, class II, DQ alpha-1||146880|F, RE|||{Celiac disease, susceptibility to}, 212750 (3)| | ||
6.261|10|31|07|6p21.32|HLA-DQB1, CELIAC1|P|Major histocompatibility complex, class II, DQ beta-1||604305|REc|||{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3);|{Multiple sclerosis, susceptibility to, 1}, 126200 (3); {Celiac disease, susceptibility to}, 212750 (3)| ||
6.262|9|7|12|6p21.32|HLA-DRB1, SS1|C|Major histocompatibility complex, class II, DR beta-1||142857|F, RE|||{Pemphigoid, susceptibility to} (2); {Sarcoidosis, susceptibility to,|1}, 181000 (3); {Multiple sclerosis, susceptibility to, 1}, 126200 (3); {Rheumatoid arthritis, susceptibility to}, 180300 (3)| ||
6.263|5|15|89|6p21.32|HLA-DRA|C|Major histocompatibility complex, class II, DR alpha||142860|F, RE|1 alpha, 3 different beta chains||| | |17(H2I)|
6.264|10|23|87|6p21.32|HLA-DNA|C|Major histocompatibility complex, class II, DN alpha||142930|F, RE|||| | ||
6.265|5|5|09|6p21.3|HLA-DRB3, HLA-DR52|P|Major histocompatibility complex, class II, DR beta-3||612735|REn|||| | ||
6.266|4|6|00|6p21.32|HLA-DRB5|P|Major histocompatibility complex, class II, DR beta-5||604776|REn|||| | ||
6.267|6|8|89|6p21.33|HLA-E|P|Major histocompatibility complex, class I, E||143010|REn|||| | ||
6.268|1|25|05|6p22.1|HLA-G|C|HLA-G histocompatibility antigen, class I||142871|REc, RE|||{Asthma, susceptibility to}, 600807 (2)| | |17(Qa)|
6.269|2|19|02|6p21.32|HSD17B8, FABGL, D6S2245E, HKE6|P|Hydroxysteroid (17-beta) dehydrogenase 8|(Ke6 gene, mouse, homolog of)|601417|REl|||| | |17(Ke6)|
6.270|12|18|91|6p21.33|HSPA1A|C|Heat-shock 70kD protein-1A||140550|S, REa, A|also 14q22-q24, chr.21, and at least 1 other chromosome||| | |17(Hsp70)|
6.271|1|13|99|6p21.33|HSPA1B|P|Heat-shock 70kD protein-1B||603012|REc|||| | ||
6.272|12|18|91|6p21.33|HSPA1L|P|Heat-shock 70kD protein-like-1||140559|REn|||| | ||
6.273|10|22|08|6p21.3|IBD3|P|Inflammatory bowel disease 3||604519|Fd|||{Inflammatory bowel disease 3} (2)| | ||
6.274|6|11|01|6p21.3|IDDM1|P|Insulin-dependent diabetes mellitus-1||222100|F, LD|linkage or association, with HLA||{Diabetes mellitus, insulin-dependent-1} (2)| | ||
6.275|11|3|98|6p21.33|IER3, DIF2, IEX1, PRG1, GLY96|P|Immediate early response-3||602996|A|||| | ||
6.276|4|21|99|6p21.3|IGAD1|P|Immunoglobulin A deficiency||137100|Fd|||Immunoglobulin A deficiency (2)| | ||
6.277|4|24|88|6p21.3|IGLP1|C|Immune response to synthetic polypeptides-1||147080|F|||| | ||
6.278|4|24|88|6p21.3|IGLP2|C|Immune response to synthetic polypeptides-2||147090|F|||| | ||
6.279|3|9|92|6p21.3|IGAT|P|Immune response to synthetic polypeptide--IRGAT||146820|F|in B/D segment||| | ||
6.280|10|23|87|6p21.3|ISCW|P|Immune suppression to streptococcal antigen||146850|H, F|HLA-linked||| | ||
6.281|4|27|07|6p21.33|KIAA1949|C|Phostensin||610990|REc|||| | ||
6.282|3|23|09|6p21.32|KIFC1, KNSL2, HSET|P|Kinesin family member C1||603763|REc|||| | ||
6.283|1|31|08|6p21.31|LHFPL5, TMHS, DFNB67|C|LHFP-like protein 5||609427|H, REc, Fd|||Deafness, autosomal recessive 67, 610265 (3)| | |17(Lhfp15)|
6.284|9|10|09|6p21.33|LSM2, C6orf28|P|LSM2 protein||607282|R, REc|||| | ||
6.285|1|6|09|6p21.33|LTA, TNFB|C|Lymphotoxin alpha (formerly tumor necrosis factor beta)||153440|REa, A, RE, Fd|cen-DR-21OH-C4-BF-C2-TNF-LTA-HLA-B||{Myocardial infarction, susceptibility to}, 608446 (3); {Psoriatic|arthritis, susceptibility to}, 607507 (3); {Leprosy, susceptibility to, 4}, 610988 (3)| |17(Tnfb)|
6.286|1|27|97|6p21.33|LTB, TNFC|P|Lymphotoxin B||600978|REn|||| | ||
6.287|5|24|13|6p21.33|LY6G5B, G5B|P|Lymphocyte antigen 6 complex, locus G5B||610433|REc|||| | ||
6.288|5|24|13|6p21.33|LY6G5C, G5C|P|Lymphocyte antigen 6 complex, locus G5C||610434|REc|||| | ||
6.289|5|24|13|6p21.33|LY6G6C, G6C|P|Lymphocyte antigen 6 complex, locus G6C||610435|REc|||| | ||
6.290|8|28|02|6p21.33|LY6G6D, MEGT1, G6D, C6orf23|P|Lymphocyte antigen 6 complex, locus G6D||606038|REn|||| | ||
6.291|5|24|13|6p21.33|LY6G6E, G6E|P|Lymphocyte antigen 6 complex, locus G6E||610437|REc|||| | ||
6.292|10|4|05|6p21.33|MCCD1|P|Mitochondrial coiled-coil domain 1||609624|REc|||| | ||
6.293|12|14|95|6p21.33|MICA|P|MHC class I polypeptide-related sequence A||600169|REn|||| | ||
6.294|3|18|98|6p21.33|MICB|P|MHC class I polypeptide-related sequence B||602436|REn|||| | ||
6.295|1|7|95|6p21.31|MLN|C|Motilin||158270|REa, A, Fd|||| | ||
6.296|11|4|13|6p21.2|MOCS1, MOCODA|C|Molybdenum cofactor synthesis-1||603707|LD, A|||Molybdenum cofactor deficiency A, 252150 (3)| | ||
6.297|9|26|11|6p22.1|MOG, NRCLP7|C|Myelin-oligodendrocyte glycoprotein||159465|A, REn|60kb telomeric to HLA-F||Narcolepsy 7, 614250 (3)| | |17(Mog)|
6.298|2|26|08|6p21.1|MRPL2|P|Mitochondrial ribosomal protein L2||611822|R|||| | ||
6.299|2|26|08|6p21.1|MRPL14, MRPL32|P|Mitochondrial ribosomal protein L14||611827|R|||| | ||
6.300|4|24|08|6p21.1|MRPS18A, MRPS18-3|P|Mitochondrial ribosomal protein S18A||611981|R, REc|||| | ||
6.301|4|24|08|6p21.33|MRPS18B, MRPS18-2|P|Mitochromosomal ribosomal protein S18B||611982|REc|pseudogenes on chromosomes 1 and 2||| | ||
6.302|10|18|11|6p21.33|MUC22, PBMUCL1|P|Mucin 22||613917|REc|||| | ||
6.303|7|2|02|6p21.3|MYAS1|C|Myasthenia gravis with thymus hyperplasia||607085|Fd|||Myasthenia gravis with thymus hyperplasia (2)| | ||
6.304|3|20|08|6p21.33|NCR3, 1C7, NKP30, CD337, MALS|P|Natural cytotoxicity triggering receptor 3||611550|REc|||{Malaria, mild, susceptibility to}, 609148 (3)| | ||
6.305|6|1|99|6p21.33|NEP, EDDR1, NTRK4, TRKE|P|Neuroepithelial tyrosine kinase||600408|A|||| | |17(Nep)|
6.306|12|3|03|6p21.33|NEU1, NEU, SIAL1|C|Neuraminidase 1 (lysosomal sialidase; sialidase 1)||608272|H, F, A|||Sialidosis, type I, 256550 (3); Sialidosis, type II, 256550 (3)| | |17(Neu1)|
6.307|3|3|03|6p21.33|NFKBIL1|C|Nuclear factor of kappa light polypeptide gene enhancer in|B-cells inhibitor-like 1|601022|REn, Fd|||{Rheumatoid arthritis, susceptibility to}, 180300 (3)| | ||
6.308|12|9|91|6p21.1|NFYA|P|Transcription factor NF-Y, A subunit||189903|REa, A|||| | |17(Nfya)|
6.309|8|29|91|6p21.3|NKS1, EC1|P|Susceptibility to lysis by alloreactive natural killer cells||272370|F|||| | |17(Hh1)|
6.310|12|11|12|6p21.3|MBNP|L|Membranous nephropathy, susceptibility to||614692|Fd|||{?Membranous nephropathy, susceptibility to} (2)| | ||
6.311|11|4|98|6p21.32|NOTCH4, INT3|C|Notch, Drosophila, homolog of, 4||164951|A, REc|||| | ||
6.312|11|3|09|6p21.3|NPCA2|P|Nasopharyngeal carcinoma, susceptibility to, 2||161550|Fd|associated with rs2517713 and rs2975042||{Nasopharyngeal carcinoma, susceptibility to, 2} (2)| | ||
6.313|7|9|95|6p22.1|OR2H3, OLFR2|P|Olfactory receptor, family 2, subfamily H, member 3 (olfactory|receptor 2)|600578|RE|in class I MHC region||| | ||
6.314|9|10|09|6p21.3|PBC2|P|Biliary cirrhosis, primary, 2||613007|Fd|associated with rs2856683||{Biliary cirrhosis, primary, 2} (2)| | ||
6.315|9|10|09|6p21.3|PBCA|P|Pancreatic beta cell, agenesis of||600089|D|uniparental disomy||?Diabetes mellitus, insulin-dependent, neonatal (2)| | ||
6.316|4|10|00|6p21.3|PBLT|P|Panbronchiolitis, diffuse||604809|Fd|||Panbronchiolitis, diffuse (2)| | ||
6.317|9|12|96|6p21.32|PBX2, HOX12, G17|P|Pre-B-cell leukemia transcription factor-2||176311|A|||| | ||
6.318|4|27|12|6p21.3|PDCOS|P|Podoconiosis, susceptibility to||614590|Fd|||{Podoconiosis, susceptibility to} (2)| | ||
6.319|5|25|13|6p21.33|PPP1R10, PNUTS|P|Protein phosphatase 1, regulatory subunit 10||603771|REc|||| | ||
6.320|9|8|11|6p21.33|PRRC2A, BAT2, D6S51E|P|Proline-rich coiled-coil protein 2A||142580|RE|||| | ||
6.321|4|19|02|6p21.1|PTCRA|C|Pre-T-cell receptor, alpha-chain precursor||606817|A, REc|||| | |17(Ptcra)|
6.322|10|23|87|6p21.3|PDB|L|Paget disease of bone||167250|F|?linkage or association, with HLA||?Paget disease of bone (2)| | ||
6.323|11|20|98|6p21.32|PHF1|P|PHD finger protein-1||602881|A|||| | ||
6.324|9|12|93|6p21.33|POU5F1, OTF3, OCT3|C|Pou domain, class 5, transcription factor 1 (octamer-binding|transcription factor 3)|164177|REa, Fd, A, REn|OTF3L on 12; ?related pseudogene on chr.8||| | |17(Otf3)|
6.325|2|4|02|6p22.1|PPP1R11, TCTEX5|C|Protein phosphatase 1, regulatory subunit 11||606670|REc|||| | |17(Ppp1r11)|
6.326|11|19|98|6p21.32|PPT2|P|Palmitoyl-protein thioesterase-2||603298|REc|||| | ||
6.327|4|19|12|6p21.32|PSMB8, LMP7, RING10, JMP, NKJO, ALDD|C|Proteasome subunit, beta type, 8 (large multifunctional protease-7)||177046|REn|between TAP1 and TAP2||Autoinflammation, lipodystrophy, and dermatosis syndrome,|256040 (3) | ||
6.328|8|19|98|6p21.32|PSMB9, LMP2, RING12|C|Proteasome subunit, beta type, 9||177045|REn|just centromeric to TAP1||| | |17(Lmp2)|
6.329|3|5|98|6p21.32|RAB2L|P|RAB2, member RAS oncogene family-like||602306|A|||| | ||
6.330|10|19|88|6p21.33|RDBP|P|RD RNA-binding protein||154040|REn|between C4 and BF||| | |17(rd)|
6.331|3|5|98|6p21.32|RING1, RNF1|P|RING finger protein-1||602045|REc|||| | ||
6.332|6|10|98|6p21.32|RNF5, RING5|P|RING finger protein-5||602677|A, R|||| | ||
6.333|1|2|08|6p21.2|RNF8, KIAA0646|C|Ring finger protein 8||611685|R, Psh|||| | ||
6.334|2|28|01|6p22.1|RNF9, RFB30, HERF1|P|RING finger protein-9||605701|REc|||| | ||
6.335|4|29|03|6p22.1|RNF39, HZFW, HZF, LIRF|P|Ring finger protein 39||607524|REc|||| | ||
6.336|12|14|95|6p21.32|RPS18|P|Ribosomal protein S18||180473|REn|||| | |17(Ke3)|
6.337|10|23|87|6p21.3|RWS|L|Ragweed sensitivity||179450|F|?linkage or association, with HLA||?Ragweed sensitivity (2)| | ||
6.338|3|22|93|6p21.32|RXRB|C|Retinoid X receptor, beta||180246|H, REa, Psh, A|||| | |17(Rxrb)|
6.339|7|11|12|6p21.31|SCUBE3|P|Signal peptide-, CUB domain-,  and EGF-like domains-containing protein|3|614708|REc|||| | |17(Scube3)|
6.340|8|20|07|6p22.2|SLC17A2, NPT3|P|Solute carrier family 17 (sodium phosphate cotransporter), member 2||611049|REc|||| | ||
6.341|9|2|12|6p22.2|SLC17A3, NPT4|P|Solute carrier family 17 (sodium phosphate cotransporter), member 3||611034|REc|||[Uric acid concentration, serum, QTL4], 612671 (3); {Gout|susceptibility 4}, 612671 (3) | ||
6.342|6|1|04|6p21.32|SLC39A7, D6S2244E, HKE4|C|Solute carrier family 39 (zinc transporter), member 7|(Ke4 gene, mouse, homolog of)|601416|REl|||| | |17(Ke4)|
6.343|4|24|09|6p21.33|SLC44A4, CTL4, C6orf29|P|Solute carrier family 44, member 4||606107|REc|||| | ||
6.344|8|25|04|6p21.31|SPDEF, PDEF|P|SAM pointed domain-containing ETS transcription factor||608144|REc|||| | ||
6.345|5|25|00|6p21.33|STK19|P|Serine/threonine protein kinase 19||604977|REc|||| | ||
6.346|3|7|13|6p21.32|SYNGAP1, MRD5|C|Synaptic Ras GTPase activating protein 1||603384|REc|||Mental retardation, autosomal dominant 5, 612621 (3)| | ||
6.347|10|14|05|6p21.32|TAP1, ABCB2, TAP1, RING4, PSF1|C|Transporter 1, ATP-binding cassette, subfamily B||170260|REn|~7kb telomeric to TAP2||Bare lymphocyte syndrome, type I, 604571 (3)| | |17(Ham1)|
6.348|2|10|04|6p21.32|TAP2, ABCB3, PSF2, RING11|C|Transporter 2, ATP-binding cassette, subfamily B||170261|REn|tel-TAP1-LMP2-LMP1-TAP2-cen||Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3);|Wegener-like granulomatosis (3) | |17(Ham2)|
6.349|10|25|02|6p21.32|TAPBP, TPSN|P|TAP-binding protein (tapasin)||601962|A, REa|||Bare lymphocyte syndrome, type I, 604571 (3)| | |17(Tapbp)|
6.350|1|1|96|6p21.33|TCF19, SC1|P|Transcription factor-19 (SC1)||600912|REc|||| | ||
6.351|8|9|99|6p21.31|TEAD3, TEF5, TEAD5|P|TEA domain family member 3 (transcriptional enhancer factor 5)||603170|A, R|||| | |17(Tead3)|
6.352|6|23|06|6p21.33|TNF, TNFA|P|Tumor necrosis factor (cachectin)||191160|REa, A, RE|5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B||{Malaria, cerebral, susceptibility to}, 611162 (3); {Septic shock,|susceptibility to} (3); {Asthma, susceptibility to}, 600807 (3); {Dementia, vascular, susceptibility to} (3); {Migraine without aura, susceptibility to},|157300 (3) |17(Tnfa)|
6.353|12|22|11|6p21.33|TNXB, TNX, TNXB1, TNXBS, TNXB2, EDS3|P|Tenascin XB||600985|REn|||Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X|deficiency, 606408 (3); Ehlers-Danlos syndrome, autosomal dominant, hypermobility type, 130020 (3)| ||
6.354|7|11|93|6p21.33|TUBB, TUBB5, M40|C|Tubulin, beta polypeptide||191130|REa, D|||| | ||
6.355|3|28|11|6p21.31|TULP1, RP14, LCA15|C|Tubby-like protein-1||602280|Fd, A|||Retinitis pigmentosa 14, 600132 (3); Leber congenital amaurosis 15,|613843 (3) | ||
6.356|8|20|08|6p22.1|UBD, FAT10|C|Ubiquitin D||606050|REc|||| | ||
6.357|9|18|08|6p21.33|VARS, VARS1, G7A, VARS2|P|Valyl-tRNA synthetase||192150|REc|||| | |17(Vars2)|
6.358|7|15|09|6p21.33|VARS2, KIAA1885|P|Valyl-tRNA synthetase 2||612802|REc|||| | ||
6.359|11|19|11|6p21.3|VAMAS6|P|Vitiligo-associated multiple autoimmune disease susceptibility 6||193200|Fd|possible second locus on 1p31.3-p32.2||{Vitiligo-associated multiple autoimmune disease susceptiblity 6} (2)| | ||
6.360|4|17|12|6p21.32|VPS52, SACM2L|P|Vcuolar protein sorting 52 homolog (S. cerevisiae)||603443|REc|||| | ||
6.361|8|25|04|6p21.3|WG|P|Wegener granulomatosis||608710|Fd|||Wegener granulomatosis (2)| | ||
6.362|2|28|07|6p21.3|WM1|P|Macroglobulinemia, Waldenstrom, susceptibility to, 1||153600|Fd|linked to HLA||{Macroglobulinemia, Waldenstrom, susceptibility to, 1} (2)| | ||
6.363|12|4|95|6p22.1|ZNF173|P|Zinc finger protein-173||600830|REn|||| | ||
6.364|10|20|99|6p22.1|ZNF184|P|Zinc finger protein-184||602277|REf|||| | ||
6.365|3|5|98|6p22.1|ZNF192|P|Zinc finger protein-192||602240|REc|||| | ||
6.366|3|5|98|6p22.1|ZNF193|P|Zinc finger protein-193||602246|REc|||| | ||
6.367|11|17|98|6p21.3|ZNF204|P|Zinc finger protein-204||603282|A, Psh|?pseudogene||| | ||
6.368|8|26|98|6p21.31|BAK1|P|BCL2-antagonist/killer 1||600516|REa, H, REc|centromeric to MHC region||| | |17(bak)|
6.369|9|16|88|6p21.3-p21.2|CP20|L|Lymphocyte cytosolic protein, molecular weight 20kD||153380|LD|||| | ||
6.370|5|31|05|6p21.31|FKBP5, FKBP51|P|FK506-binding protein 5||602623|REc|||{Major depressive disorder and accelerated response to antidepressant|drug treatment}, 608516 (3) | ||
6.371|1|20|11|6p21.2|GLO1|C|Glyoxalase I||138750|F, S, Fd|~3cM proximal to HLA||| | |17(Glo1)|
6.372|10|23|87|6p21.3-p21.2|LAP|L|Laryngeal adductor paralysis||150270|F|?linkage to HLA and GLO1||?Laryngeal adductor paralysis (2)| | ||
6.373|12|4|95|6p21.31|MAPK14, CSBP1|P|Mitogen-activated protein kinase 14|(cytokine suppressive anti-inflammatory drug binding protein 1)|600289|Psh, A|||| | ||
6.374|5|29|12|6p21.3-p21.2|MPVQTL4|P|Mean platelet volume quantitative trait locus 4||614644|Fd|associated with rs210134||Mean platelet volume QTL4 (2)| | ||
6.375|11|5|92|6p21.31|TCP11, D6S230E|P|T-complex homolog tcp-11||186982|REa, R, A, REc|expressed only in testis at same time as ZNF76 (day 20 after birth)||| | |17(tcp11)|
6.376|11|5|92|6p21.31|ZNF76, D6S229E|P|Zinc finger protein-76 (expressed in testis)||194549|REa, R, A, REc|same 300kb fragment as TCP11||| | |17(Znf76)|
6.377|10|11|99|6p21.33|LST1, D6S49E, B144|P|Leukocyte-specific transcript 1 (B144 protein)||109170|RE, REn|10kb 3' from TNFA||| | ||
6.378|3|27|90|6p21.1|PGC|C|Preprogastricsin||169740|REa, F, REb|cen-PGG-GLO1-HLA||| | |17(Upg1)|
6.379|8|12|91|6p21.1|TCTE1|P|T-complex-associated-testis-expressed-1||186975|A, Fd|||| | ||
6.380|3|7|13|6p21.2|AD17|P|Alzheimer disease 17||615080|Fd|associated with rs75932628T||Alzheimer disease 17 (2)| | ||
6.381|1|1|12|6p21.1|C6orf130|P|Chromosome 6 open reading frame 130||614393|REc|||| | ||
6.382|9|10|09|6p21.2|DAAM2, KIAA0381|P|Dishevelled-associated activator of morphogenesis 2||606627|R, REc|||| | ||
6.383|7|15|09|6p21.2-p21.1|LRFN2, SALM1, KIAA1246|C|Leucine-rich repeat and fibronectin type III domain-containing|protein 2|612808|R, REc, H|||| | |17(Lrfn2)|
6.384|11|6|92|6p21.2|PIM1|C|Oncogene PIM1||164960|REa, D, Fd|||| | |17(Pim1)|
6.385|10|17|95|6p21.2|CDKN1A, WAF1, CIP1, CDKN1|C|Cyclin-dependent kinase inhibitor 1A (p21, Cip1)||116899|A|||| | |17(Waf1)|
6.386|9|7|12|6p21.2|MTCH1, PSAP|P|Mitochondrial carrier homolog 1||610449|REc, R|||| | ||
6.387|12|11|02|6p21.1|TREM2|P|Triggering receptor expressed on myeloid cells 2||605086|REa|||Nasu-Hakola disease, 221770 (3)| | ||
6.388|4|30|09|6p12.3|CRISP1, AEGL1|P|Cysteine-rich secretory protein 1||601193|A|||| | |17(Aeg1)|
6.389|1|2|03|6p21.1|GTPBP2|C|GTP-binding protein 2||607434|A, R, REc|||| | |17(Gtpbp2)|
6.390|11|22|02|6p21.2|KCNK16, TALK1|P|Potassium channel, subfamily K, member 16||607369|REc|||| | ||
6.391|11|22|02|6p21.2|KCNK17, TASK4, TALK2|C|Potassium channel, subfamily K, member 17||607370|REc|||| | ||
6.392|1|16|96|6p12.3|MEP1A|C|Meprin A, alpha||600388|REa, R, REc, Fd|||| | |17(Mep1a)|
6.393|9|23|96|6p21.31|PPARD, NUC1|P|Peroxisome proliferative activated receptor, delta||600409|Psh, A|||| | ||
6.394|1|29|01|6p21.1|SLC22A7, OAT2|P|Solute carrier family 22 (organic anion transporter), member 7||604995|R|||| | ||
6.395|3|5|98|6p21.1|SLC29A1, ENT1|P|Solute carrier family 29 (nucleoside transporters), member 1|(equilibrative nucleoside transporter-1)|602193|A|||| | ||
6.396|12|23|05|6p21.1|YIPF3, KLIP1|P|YIP1 domain family, member 3||609775|R|||| | ||
6.397|10|18|11|6p12.3|PLA2G7, PAFAH, PAFAD|C|Phospholipase A2, group VII (platelet-activating factor|acetylhydrolase)|601690|A|||Platelet-activating factor acetylhydrolase deficiency, 614278 (3);|{Asthma, susceptibility to}, 600807 (3); {Atopy, susceptibility to}, 147050 (3)| ||
6.398|2|18|96|6p22.1|ZNF165, LD65|C|Zinc finger protein-165||600834|REa, A, REc|||| | ||
6.399|8|3|11|6p21.1|AARS2, KIAA1270, MTALARS, COXPD8|P|Alanyl-tRNA synthetase 2||612035|R, REc|||Combined oxidative phosphorylation deficiency 8, 614096 (3)| | ||
6.400|12|24|08|6p21.1|ABCC10, MRP7|C|ATP-binding cassette, subfamily C, member 10||612509|Psh, R, REc, A|||| | ||
6.401|6|18|99|6p21.1|BYSL|P|By the ribosomal protein S6 gene, Drosophila, homolog-like|(bystin)|603871|A|||| | ||
6.402|9|28|05|6p21.1|CUL7|P|Cullin 7||609577|REa, Fd|||3-M syndrome 1, 273750 (3)| | ||
6.403|6|13|12|6p21.1|CUL9, PARC, KIAA0708|P|Cullin 9||607489|REc|||| | ||
6.404|9|15|10|6p21.1|FOXP4|P|Forkhead box P4||608924|REc|||| | ||
6.405|4|28|10|6p21.1|GUCA1A, GCAP, COD3, CORD14|P|Guanylate cyclase activator 1A, retina||600364|Psh, A|||Cone dystrophy-3, 602093 (3); Cone-rod dystrophy 14, 602093 (3)| | ||
6.406|3|24|11|6p21.1|GUCA1B, GCAP2, GUCA2, RP48|P|Guanylate cyclase activator 1B, retina||602275|REa, A|||Retinitis pigmentosa 48, 613827 (3)| | ||
6.407|9|8|08|6p21.1|HSP90AB1, HSPCB, HSPC2, HSP90B|C|Heas-shock protein, 90kD, alpha, class B, member 1||140572|Psh, REn|||| | ||
6.408|8|19|13|6p21.1|KLHDC3, PEAS|P|KELCH domain-containing protein 3||611248|REc|||| | |17(Klhdc3)|
6.409|7|22|09|6p21.1|MED20, TRFP|P|Mediator complex subunit 20||612915|REc|||| | ||
6.410|12|28|08|6p21.1|NCR2, LY95, NKP44|C|Natural cytotoxicity triggering receptor 2|(lymphocyte antigen 95, mouse, homolog of)|604531|REa, REc|||| | |17(Ncr2)|
6.411|10|25|12|6p21.1|PEX6, PXAAA1, PAF2, PBD4A, PDB4B|C|Peroxisomal biogenesis factor 6 (peroxisomal AAA-type ATPase 1)||601498|REa, H, A|||Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3);|Peroxisome biogenesis disorder 4B, 614863 (3) | |17(Pxaaa1)|
6.412|5|28|99|6p21.2|PPIL1, CYPL1|C|Peptidylprolyl isomerase (cyclophilin)-like 1||601301|A, R|previously assigned to chr.2||| | ||
6.413|6|4|97|6p21.1|PPP2R5D|P|Protein phosphatase-2, regulatory subunit B (B56), delta isoform||601646|A|||| | ||
6.414|11|30|10|6p21.1|PPR1|P|Photoparoxysmal response 1||132100|Fd|max lod at D6S2427||Photoparoxysmal response 1 (2)| | ||
6.415|9|29|10|6p21.1|RRP36, C6orf153|P|Ribosomal RNA-processing factor, 36||613475|REc|||| | ||
6.416|3|19|09|6p21.1|RSPH9, CILD12|P|Radial spoke head 9, Chlamydomonas, homolog of||612648|REc|||Ciliary dyskinesia, primary, 12, 612650 (3)| | ||
6.417|10|2|12|6p21.1|SRF|P|Serum response factor||600589|REc|||| | ||
6.418|11|22|13|6p21.1|SUPT3H, SPT3|C|Suppressor of Ty 3, S. cerevisiae, homolog of||602947|REc|||| | ||
6.419|3|23|09|6p21.1|TJAP1, PILT, TJP4|P|Tight junction-associated protein 1||612658|REc|||| | ||
6.420|8|19|13|6p21.1|TRERF1, TREP132|P|Transcriptional regulating factor 1||610322|REc, R|||| | ||
6.421|12|28|08|6p21.1|TREM1|P|Triggering receptor expressed on myeloid cells 1||605085|REa|||| | |17(Trem1)|
6.422|12|28|08|6p21.1|TREML1, TLT1|P|Triggering receptor expressed on myeloid cells-like protein 1||609714|REc, H|||| | |17(Treml1)|
6.423|12|28|08|6p21.1|TREML2, TLT2|P|Triggering receptor expressed on myeloid cells-like protein 2||609715|REc, H|||| | |17(Treml2)|
6.424|12|28|08|6p21.1|TREML3, TLT3|P|Triggering receptor expressed on myeloid cells-like protein 3||609716|REc, H|||| | |17(Treml3)|
6.425|4|1|08|6p21.1|UBR2, C6orf133, KIAA0349|C|Ubiquitin-protein ligase E3 component N-recognin 2||609134|R, A, H|||| | |17(Ubr2)|
6.426|12|23|05|6p21.1|XPO5, KIAA1291|P|Exportin 5||607845|R, REc|||| | ||
6.427|4|30|03|6p21.1|CLIC5|P|Chloride intracellular channel 5||607293|REc|||| | ||
6.428|4|23|08|6p21.1|MRPS10|P|Mitochondrial ribosomal protein S10||611976|REc|5 pseudogenes on chromosomes 1, 3, and 9||| | ||
6.429|7|3|06|6p12.3|TFAP2D, TFAP2BL1|P|Transcription factor AP2-delta||610161|REc|||| | ||
6.430|2|21|03|6p21.1-p12.2|MGR3|P|Migraine with or without aura, susceptibility to, 3||607498|Fd|lod 5.78 at D6S452||{Migraine with or without aura, susceptibility to, 3} (2)| | ||
6.431|6|25|97|6p21.1|PTK7|C|PTK7 protein tyrosine kinase 7||601890|REa, A|||| | ||
6.432|2|26|02|6p12.3-p12.2|FCYT, PKHD1, ARPKD|C|Fibrocystin||606702|Fd, H|||Polycystic kidney and hepatic disease, 263200 (3)| | |13(Pkhd1)|
6.433|4|19|02|6p12.3|PGK2|C|Phosphoglycerate kinase-2 (testicular PGK)||172270|REa, A, REb|pseudogene on chr.12||| | |17(Pgk2)|
6.434|1|23|01|6p21.1|POLH, XPV|C|Polymerase, DNA, eta||603968|R, REa, A|||Xeroderma pigmentosum, variant type, 278750 (3)| | ||
6.435|5|7|01|6p12.3|CYP39A1|P|Cytochrome P450, subfamily XXXIXA (oxysterol 7-alpha-hydroxylase),|polypeptide 1|605994|R|||| | |17(Cyp39a1)|
6.436|12|22|00|6p12.3|RHAG, RH50A|C|Rhesus blood group-associated glycoprotein||180297|REa, A|||Anemia, hemolytic, Rh-null, regulator type, 268150 (3); Rh-mod|syndrome (3) | ||
6.437|12|21|09|6p21.1|PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2|C|Peripherin 2, mouse, homolog of||179605|REa, A|digenic RP with ROM1||Retinitis pigmentosa 7, 608133 (3); Retinitis punctata albescens,|136880 (3); Macular dystrophy, patterned, 169150 (3); Macular dystrophy, vitelliform, 608161 (3); Foveomacular dystrophy, adult-onset, with choroidal|neovascularization, 608161 (3); Macular dystrophy (3); Retinitis pigmentosa, digenic, 608133 (3); Choriodal dystrophy, central areolar 2, 613105 (3)|17(rds)|Farrar (1991); Kajiwara (1991)
6.438|1|29|01|6p21.1|APOBEC2|P|Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 2||604797|R, H|||| | |17(Apobec2)|
6.439|7|16|09|6p21.2|BTBD9, KIAA1880|P|BTB/POZ domain-containing protein 9||611237|REc|||| | ||
6.440|7|12|92|6p21.1|CCND3|C|Cyclin D3||123834|REa, A|pseudogene also on 6p21||| | ||
6.441|8|11|98|6p21.1|CDC5L|C|Cell division cycle 5, S. pombe, homolog-like||602868|REc, A|||| | ||
6.442|10|20|99|6p21.2|CPNE5, CPN5|P|Copine V||604209|REc|||| | ||
6.443|9|5|07|6p21.2|DNAH8, HDHC9|P|Dynein, axonemal, heavy chain 8||603337|REc|||| | ||
6.444|8|25|04|6p21|EJM3|P|Epilepsy, juvenile myoclonic 3||608816|Fd|||Epilepsy, juvenile myoclonic 3 (2)| | ||
6.445|7|22|09|6p21.31|ETV7, TEL2, TELB|C|ETS variant gene 7||605255|A, REc|||| | ||
6.446|5|9|95|6p21.2|GLP1R|P|Glucagon-like peptide 1 receptor||138032|A|||| | |17(Glp1r)|
6.447|5|23|11|6p21.31|HMGA1, HMGIY|P|High-mobility group AT-hook 1||600701|Psh, R|||{Diabetes mellitus, noninsulin-dependent, susceptibility to},|125853 (3) | ||
6.448|9|30|02|6p21.31|IHPK3, INSP6K3, IP6K3|P|Inositol hexaphosphate kinase 3||606993|REc|pseudogene on 6p24.1||| | ||
6.449|6|18|99|6p21.2|KCNK5, TASK2|P|Potassium channel, subfamily K, member 5||603493|R|||| | ||
6.450|4|26|11|6p21.2|KIF6|P|Kinesin family member 6||613919|REc|||| | ||
6.451|4|29|02|6p21|LATD|L|Laterality defects, autosomal dominant||601086|Fd|max lod 2.95 at theta = 0||| | ||
6.452|3|31|09|6p22.1|MAS1L, MRG|P|MAS1 oncogene-like||607235|REc|||| | ||
6.453|10|4|05|6p21.2|MDGA1, GPIM|P|MAM domain-containing glycosylphosphatidylinositol anchor 1||609626|REc|||| | ||
6.454|7|6|00|6p21.1|MDFI|P|MYOD family inhibitor||604971|R|||| | |17(Mdfi)|
6.455|5|31|05|6p12.3|MUT, MCM|C|Methylmalonyl Coenzyme A mutase||609058|REa, A, F, D|||Methylmalonic aciduria, mut(0) type, 251000 (3)| | |17(Mut)|
6.456|12|27|01|6p21.31|PACSIN1, KIAA1379|P|Protein kinase C and casein kinase substrate in neurons 1||606512|R|||| | ||
6.457|7|16|09|6p21|RLS6|P|Restless legs syndrome, susceptibility to, 6||611185|Fd|associated with rs9296249 and rs9357271||{Restless legs syndrome 6} (2)| | ||
6.458|1|13|09|6p22.1|RPP21|P|Ribonuclease P/MRP, 21kD subunit||612524|REc|||| | ||
6.459|3|15|13|6p21.1|RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD|C|Runt-related transcription factor 2||600211|A, REc, Ch, Fd|||Cleidocranial dysplasia, 119600 (3); Cleidocranial dysplasia, forme|fruste, with brachydactyly, 119600 (3); Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3); Metaphyseal dysplasia with maxillary|hypoplasia with or without brachydactyly, 156510 (3) |17(Cbfa1)|
6.460|4|27|12|6p21.33|SKIV2L, SKI2, SKI2W, THES2|P|Superkiller viralicidic activity 2, S. cerevisiae, homolog, like||600478|A|||Trichohepatoenteric syndrome 2, 614602 (3)| | ||
6.461|12|19|11|6p21.31|SRSF3, SFRS3, SRP20|P|Splicing factor, arginine/serine-rich, 3||603364|R, REc|||| | |17(Sfrs3)|
6.462|9|10|09|6p21.31|STK38, NDR|P|Serine/threonine protein kinase 38||606964|R, REc|||| | ||
6.463|10|1|95|6p21.1|TFEB, TCFEB|L|Transcription factor EB||600744|H|||| | |17(Tcfeb)|
6.464|5|29|12|6p21.1|TREML4, TLT4|P|Triggering receptor expressed on myeloid cells-like protein 4||614664|REc|||| | |17(Treml4)|
6.465|3|31|09|6p21|UAQTL4, GOUT4|P|Uric acid concentration, serum, quantitative trait locus 4||612671|Fd|associated with rs1165205||[Uric acid concentration, serum, QTL4] (2)| | ||
6.466|10|8|07|6p12.3|CENPQ|P|Centromeric protein Q||611506|REc|||| | ||
6.467|8|21|12|6p12.3|GLYATL3|P|Glycine N-acyltransferase-like 3||614763|REc|||| | ||
6.468|10|5|11|6p12.3|GPR115|P|G protein-coupled receptor 115||614268|REc|||| | ||
6.469|3|23|09|6p12.2-p12.1|ICK, MRK, KIAA0936, ECO|P|Intestinal cell kinase||612325|R, REc|||Endocrine-cerebroosteodysplasia, 612651 (3)| | ||
6.470|9|24|08|6p21.1-p12.3|RCAN2, ZAKI4, DSCR1L1, MCIP2, CSP2|P|Regulator of calcineurin 2||604876|R, REc|||| | ||
6.471|7|8|11|6p12.3|SLC25A27, UCP4|P|Solute carrier family 25, member 17||613725|REc|||| | ||
6.472|5|26|13|6p12.3|TDRD6|P|TUDOR domain-containing protein 6||611200|REc|||| | ||
6.473|10|29|03|6p12.1|LRRC1, LANO|P|Leucine-rich repeat-containing protein 1||608195|REc|||| | ||
6.474|3|24|06|6p12.1|COL21A1|C|Collagen, type XXI, alpha-1 polypeptide||610002|R, REc|||| | ||
6.475|9|9|08|6p12.1|FBXO9, FBX9|P|F-box only protein 9||609091|REc|||| | |9(Fbxo9)|
6.476|10|18|11|6p12.3-q16.2|SCA34|P|Spinocerebellar ataxia 34||133190|Fd|||Spinocerebellar ataxia 34 (2)| | ||
6.477|3|6|94|6p12.2|GSTA1|C|Glutathione S-transferase A1||138359|REn, REc|||| | ||
6.478|12|6|91|6p12.2|GSTA2, GST2|C|Glutathione S-transferase A2||138360|A, REa|||| | |9(Gsta)|
6.479|3|11|03|6p12.2|GSTA3|C|Glutathione S-transferase, alpha-3||605449|R, REc|||| | ||
6.480|3|11|03|6p12.2|GSTA4|C|Glutathione S-transferase, alpha-4||605450|A, REc|||| | ||
6.481|3|10|03|6p12.2|GSTA5|P|Glutathione S-transferase, alpha-5||607605|REc|||| | ||
6.482|11|16|98|6p12.2|IL17A, IL17, CTLA8|P|Interleukin-17a||603149|A, REc|previously mapped to 2q31||| | |1(Il17)|
6.483|12|12|12|6p12.2|LINCMD1|P|Long intergenic noncoding RNA, muscle differentiation 1||614933|REc|||| | ||
6.484|3|23|09|6p12.2|MIR133B, MIRN133B|P|Micro RNA 133B||610946|REc|||| | ||
6.485|3|23|09|6p12.2|MIR206, MIRN206|P|Micro RNA 206||611599|REc|||| | |1(Mirn206)|
6.486|8|8|13|6p12.2|TRAM2, KIAA0057|C|Translocation-associated membrane protein 2||608485|REc, Psh|||| | ||
6.487|11|19|11|6p12.2-q12|MRT24|P|Mental retardation, autosomal recessive 24||614345|Fd|between rs651733 and rs1508668||Mental retardation, autosomal recessive 24 (2)| | ||
6.488|9|1|09|6p12.1|BMP5|P|Bone morphogenetic protein-5||112265|REa, REc|||| | ||
6.489|9|8|11|6p12.1|MLIP, C6orf142|P|Muscular LMNA-interating protein||614106|REc|||| | ||
6.490|12|7|04|6p12.2|RN7SK, 7SK|P|RNA, 7SK small nuclear||606515|REa|||| | ||
6.491|3|8|07|6p21.1|SLC35B2, PAPST1, SLL|P|Solute carrier family 35 (3'-phosphoadenosine 5')-phosphosulfate|transporter), member B2|610788|REc|||| | ||
6.492|4|19|12|6p12.2|PAQR8, C6orf33, LMPB1, MPRB|P|Progestin and ADIPOQ receptor family, member 8||607780|REn|||| | ||
6.493|1|29|01|6p21.1|CAPN11|P|Calpain 11||604822|REa, R|||| | ||
6.494|10|28|08|6p12.3|CD2AP, CMS|C|CD2-associated protein||604241|R, REc|||Glomerulosclerosis, focal segmental, 3, 607832 (3)| | ||
6.495|4|30|09|6p12.3|CRISP2, TPX1, TSP1|P|Cysteine-rich secretory protein 2||187430|REa|||| | |17(Tpx1)|
6.496|5|23|13|6p12.3|DEFB114, DEFB14|P|Defensin, beta, 114||615243|REc|||| | ||
6.497|2|24|08|6p12.1|ELOVL5, HELO1|P|Elongation of very long chain fatty acids-like 5||611805|REc|||| | ||
6.498|1|6|09|6p12.1|GCLC, GLCLC|C|Glutamate-cysteine ligase, catalytic subunit||606857|REa, Psh, A, Fd|||Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency,|230450 (3); {Myocardial infarction, susceptibility to}, 608446 (3) | |9(Glclc)|
6.499|1|24|02|6p21.1|GNMT|P|Glycine N-methyltransferase||606628|A|||Glycine N-methyltransferase deficiency, 606664 (3)| | ||
6.500|5|23|11|6p12.2|IL17F, ML1, CANDF6|P|Interleukin 17F||606496|R|||Candidiasis, familial, 6, autosomal dominant, 613956 (3)| | ||
6.501|2|7|07|6p12.1|KLHL31, KLHL|P|Kelch-like 31||610749|REc, H|||| | |9(Klhl31)|
6.502|11|4|98|6p12.2|MCM3|P|Minichromosome maintenance, S. cerevisiae, homolog of, 3||602693|A|||| | ||
6.503|5|20|99|6p12|NYS2, NYSA|P|Nystagmus-2, autosomal dominant||164100|Fd|||Nystagmus-2, autosomal dominant (2)| | ||
6.504|5|4|00|6p12.3|TFAP2B, CHAR|C|Transcription factor AP-2 beta (activating enhancer-binding protein|2 beta)|601601|A, Fd|||Char syndrome, 169100 (3)| | |1(Tfap2b)|
6.505|2|18|09|6p21.1|VEGF, MVCD1|C|Vascular endothelial growth factor||192240|A|||{Microvascular complications of diabetes 1}, 603933 (3)| | ||
6.506|3|3|03|6p12.1|TINAG, TIN1, TIN2|P|Tubulointerstitial nephritis antigen||606749|A|||| | ||
6.507|10|1|95|6p12-p11.1|PRIM2A|P|Primase polypeptide 2A, 58kD||176636|Psh, A|||| | |2(Prim2)|
6.508|10|7|13|6p12.1|DST, BPAG1, DMH, D6S1101, HSAN6, EBSB2|C|Dystonin (bullous pemphigoid antigen 1)||113810|A, REa|||Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3);|Epidermolysis bullosa simplex, sutosomal recessive 2, 615425 (3) | |1(Bpag1)|
6.509|10|6|09|6p12.2|EFHC1, FLJ10466, EJM1, JAE, EJA1|C|EF hand domain (C-terminal)-containing 1||608815|REc|||{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3);|{Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3) | ||
6.510|7|22|13|6p12-q12|CTRCT28, ARCC1|P|Cataract 28||609026|Fd|||{Cataract 28, age-related cortical, susceptibility to} (2)| | ||
6.511|5|25|13|6p11.2|BAG2|P|BCL2-assoiated athanogene 2||603882|REc|||| | ||
6.512|10|30|03|6p11|AITD1|P|Autoimmune thyroid disease, susceptibility to, 1||608173|Fd|||{Autoimmune thyroid disease, susceptibility to, 1} (2)| | ||
6.513|5|31|07|6p11.2|RAB23|C|Ras-associated protein RAB23||606144|REc, Fd|||Carpenter syndrome, 201000 (3)| | ||
6.514|10|23|87|6p|CSCI|L|Corticosterone side-chain isomerase||122550|H|?linked to MHC||| | ||
6.515|1|4|93|6p|PUJO|C|Pelviureteric junction obstruction||143400|F, Ch|?6p21; linked to HLA||Pelviureteric junction obstruction (2)| | ||Mackintosh (1989); Izquierdo (1991)
6.516|3|29|10|6p21.31|RPS10, DBA9|P|Ribosomal protein S10||603632|R, RE|||Diamond-Blackfan anemia 9, 613308 (3)| | ||
6.517|4|14|05|6q|BPPV|P|Vertigo, benign paroxysmal positional||193007|Fd|max lod at D6S1556||Vestibulopathy, familial (2)| | ||
6.518|8|9|99|6q23.2|RPS12|P|Ribosomal protein S12||603660|Psh, R|||| | ||
6.519|8|31|10|6q11-q14|DEL6q11q14, C6DELq11q14|P|Chromosome 6q11-q14 deletion syndrome||613544|Ch|contiguous gene deletion syndrome||Chromosome 6q11-q14 deletion syndrome (4)| | ||
6.520|5|24|13|6q11.1|KHDRBS2, SLM1|P|KH domain-containing, RNA-binding, signal transduction-associated|protein 2|610487|REc|||| | ||
6.521|9|30|04|6q12|ADHD3|P|Attention deficit-hyperactivity disorder, susceptibility to, 2||608905|Fd|||{Attention deficit-hyperactivity disorder}, 143465 (2)| | ||
6.522|6|10|98|6q12-q13|BAI3|P|Brain-specific angiogenesis inhibitor-3||602684|A|||| | ||
6.523|9|5|03|6q14.1|COX7A2|P|Cytochrome c oxidase, subunit VIIa, polypeptide-2, liver||123996|R|previously thought to be on chr.4||| | ||
6.524|11|20|08|6q12|EYS, RP25|C|Eyes shut, Drosophila, homolog of||612424|Fd, REc|||Retinitis pigmentosa 25, 602772 (3)| | ||
6.525|10|23|87|6q14.2|ME1|C|Malic enzyme, cytoplasmic||154250|S|||| | |9(Mod1)|
6.526|9|25|02|6q14.1-q14.2|PGM3, AGM1|C|Phosphoglucomutase-3 (N-acetylglucosamine-phosphate mutase 1)||172100|S, F, OT, REa|||| | |9(Pgm3)|
6.527|5|22|03|6q12|PHF3, KIAA0244|C|PHD finger protein 3||607789|A, R|||| | ||
6.528|3|1|01|6q12|PTP4A1, HH72, PRL1|P|Protein tyrosine phosphatase, type 4A, 1||601585|A|||| | ||
6.529|12|4|03|6q13|DDX43, HAGE|P|DEAD/H box 43||606286|R|||| | ||
6.530|10|11|07|6q13|RIMS1, RIM1, RIM, KIAA0340, CORD7|C|Regulating synaptic membrane exocytosis 1||606629|R, REc, Fd|||Cone-rod dystrophy 7, 603649 (3)| | ||
6.531|3|2|01|6q13|COL19A1, D6S228E, COL9A1L|P|Collagen XIX, alpha-1 polypeptide||120165|A, REa|||| | |1(Col19a1)|
6.532|11|19|11|6q12-q15|MRT30|P|Mental retardation, autosomal recessive 30||614342|Fd|between rs4612125 and rs285651||Mental retardation, autosomal recessive 30 (2)| | ||
6.533|1|30|01|6q12-q16|CMD1K|P|Cardiomyopathy, dilated, 1K||605582|Fd|||Cardiomyopathy, dilated, 1K (2)| | ||
6.534|5|29|91|6q14.3|CGA|C|Chorionic gonadotropin, alpha polypeptide||118850|REa, A|shared with LH, FSH, TSH||| | |4(Tsha)|
6.535|1|11|07|6q13|CD109|P|CD109 antigen||608859|REc|||| | ||
6.536|9|8|11|6q13|COL9A1, EDM6, STL4|C|Collagen IX, alpha-1 polypeptide||120210|A|||Epiphyseal dysplasia, multiple, 6, 614135 (3); Stickler syndrome,|type IV, 614134 (3) | |1(Col9a1)|
6.537|8|22|07|6q13|DPPA5, ESG1|P|Developmental pluripotency-associated gene 5||611111|R, REc|||| | ||
6.538|3|3|03|6q13|GLCATS, KIAA1963|C|UDP-glucuronyltransferase S||607497|REc|||| | |1(Glcats)|
6.539|8|20|92|6q14.1|HTR1B|P|5-hydroxytryptamine (serotonin) receptor-1B||182131|REa, A|||| | ||
6.540|1|2|08|6q13|KHDC1|P|KH homology domain-containing protein 1||611688|REc|||| | |1(Khdc1)|
6.541|3|7|13|6q13|KHDC3L, C6orf221, ECAT1, HYDM2|P|KH domain containing 3-like, subcortical maternal complex member||611687|REc|||Hydatidiform mole, recurrent, 2, 614293 (3)| | ||
6.542|10|17|12|6q13|LMBRD1, LMBD1, NESI, MAHCF|P|LMBR1 domain-containing protein 1||612625|REc|||Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)| | ||
6.543|6|11|11|6q13|MB21D1, C6orf150|P|MAB21 domain-containing protein 1||613973|REc|||| | ||
6.544|3|23|09|6q13|MIR30A, MIRN30A|P|Micro RNA 30A||612329|REc|||| | ||
6.545|7|18|12|6q13|MTO1, COXPD10|P|Mitochondrial translation optimization 1, S. cerevisiae, homolog of||614667|REc|||Combined oxidative phosphorylation deficiency 10, 614702 (3)| | ||
6.546|1|7|11|6q14.1|MYO6, DFNA22, DFNB37|C|Myosin VI||600970|A, H, Fd|||Deafness, autosomal dominant 22, 606346 (3); Deafness, autosomal|recessive 37, 607821 (3); Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3)| |9(Sv, Myo6)|
6.547|1|2|08|6q13|OOEP, KHDC2|P|Oocyte-expressed protein, Dog, homolog of||611689|REc|||| | |9(Ooep)|
6.548|12|28|08|6q14.1|SENP6, SSP1, SUSP1|C|Sentrin-specific protease family, member 6||605003|REc, R|||| | ||
6.549|10|15|04|6q14.1|IBTK|P|Inhibitor of Bruton agammaglobulinemia tyrosine kinase||606457|R|||| | ||
6.550|7|19|12|6q13-q14|COL12A1|P|Collagen, type XII, alpha-1||120320|REc|||| | ||
6.551|12|9|98|6q14.1|IMPG1, IPM150|P|Interphotoreceptor matrix proteoglycan-1||602870|Psh, A|||| | ||
6.552|12|7|07|6q13-q16.1|OTSC7|P|Otosclerosis 7||611572|Fd|between D6S1036 and D6S300||Otosclerosis 7 (2)| | ||
6.553|2|2|01|6q14.1|TTK, MPS1L1, PYT|C|TTK protein kinase||604092|REa, R|||| | ||
6.554|5|5|09|6q13-q26|SCZD5|P|Schizophrenia susceptibility locus, chromosome 6q-related||603175|Fd|max lod at D6S1626 and D6S292||{Schizophrenia}, 181500 (2)| | ||
6.555|10|30|06|6q14.1|BCKDHB, E1B|C|Branched chain keto acid dehydrogenase E1, beta polypeptide||248611|REa, A, REc|||Maple syrup urine disease, type Ib, 248600 (3)| | ||
6.556|8|20|98|6q13|EEF1A1, EF1A|P|Eukaryotic translation elongation factor-1, alpha-1||130590|A, Psh|||| | ||
6.557|2|24|12|6q14.1|ELOVL4, ADMD, STGD2, STGD3, ISQMR|P|Elongation of very long chain fatty acids 4||605512|Fd, REc|||Stargardt disease 3, 600110 (3); Macular dystrophy, autosomal|dominant, chromosome 6-linked, 600110 (3); Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3)| ||
6.558|5|6|03|6q13|KCNQ5|P|Potassium channel, voltage-gated, KQT-like subfamily, member 5||607357|A|||| | ||
6.559|7|20|09|6q14.1|PHIP|P|Pleckstrin homology domain-interacting protein||612870|R, REc|||| | ||
6.560|8|19|98|6q15|CNR1|P|Cannabinoid receptor-1, brain||114610|Fd, A|||| | |4(Cnr1)|
6.561|3|20|09|6q14.2|CYB5R4, NCB5OR|P|Cytochrome b5 reductase 4||608343|REc|||| | ||
6.562|10|13|94|6q14.3|HTR1E|P|5-hydroxytryptamine (serotonin) receptor-1E||182132|Psh, A|||| | ||
6.563|3|1|94|6q14-q15|M6P2|P|Membrane component, chromosome 6, polypeptide 2 (identified by|monoclonal antibody MARB15)|155960|REa, A|||| | ||
6.564|12|30|99|6q13|SLC17A5, SIASD, SLD|C|Solute carrier family 17 (sodium phosphate), member 5||604322|Fd, LD, REc|||Salla disease, 604369 (3); Sialic acid storage disorder, infantile,|269920 (3) | ||
6.565|8|13|91|6q14.1|TPBG|P|Trophoblast glycoprotein||190920|REa|||| | ||
6.566|12|29|06|6q15|ANKRD6, KIAA0957|P|Ankyrin repeat domain-containing protein 6||610583|R, REc|||| | ||
6.567|10|5|07|6q14-q16|ATFB2|P|Atrial fibrillation, familial, 2||608988|Fd|max lod between  D6S286 and D6S1021||Atrial fibrillation, familial, 2 (2)| | ||
6.568|6|16|99|6q14-q16.2|PBCRA, CRAPB|P|Progressive bifocal chorioretinal atrophy||600790|Fd|||Chorioretinal atrophy, progressive bifocal (2)| | ||
6.569|11|6|92|6q14-q16.2|MCDR1|P|Macular dystrophy, retinal, 1, North Carolina type||136550|Fd|||Macular dystrophy, North Carolina type (2)| | ||Small (1991, 1992)
6.570|5|22|92|6q15|GABRR1|P|Gamma-aminobutyric acid (GABA) A receptor, rho-1||137161|Psh, H|||| | |4(Gabbr1)|
6.571|5|22|92|6q15|GABRR2|P|Gamma-aminobutyric acid (GABA) A receptor, rho-2||137162|Psh, H|||| | |4(Gabbr2)|
6.572|7|8|11|6q14.3|NT5E, NT5|C|5' nucleotidase, ecto (CD73)||129190|S|||Calcification of joints and arteries, 211800 (3)| | ||
6.573|5|26|98|6q15|MAP3K7, TAK1|P|Mitogen-activated protein kinase kinase kinase 7||602614|Psh, REc|||| | ||
6.574|9|2|09|6q14.1|FILIP, KIAA1275|C|Filamin A-interacting protein||607307|R, REc|||| | ||
6.575|9|10|09|6q14.1|HMGN3, TRIP7|P|High-mobility group nucleosomal binding protein 3|(thyroid hormone receptor interactor 7)|604502|R, REc|||| | ||
6.576|9|9|13|6q14.1|IRAK1BP1, SIMPL|P|Interleukin 1 receptor-associated kinase 1-binding protein 1||615375|REc|||| | ||
6.577|9|10|07|6q14.1|LCA5, C6orf152|P|Lebercilin||611408|Fd, REc|||Leber congenital amaurosis 5, 604537 (3)| | ||
6.578|1|9|13|6q14.1|SHFLD2|P|Split-hand/foot malformation with long bone deficiency 2||610685|Fd|between rs623155 and rs1547251||Split-hand/foot malformation with long bone deficiency 2 (2)| | ||
6.579|5|23|13|5q14.1|TBCA|P|Tubulin-specific chaperone A||610058|REc|||| | ||
6.580|8|20|07|6q14.1|TMEM30A, CDC50A|P|Transmembrane protein 30A||611028|REc|||| | ||
6.581|12|22|08|6q14.1|UBE2CBP, H10BH|P|Ubiquitin-conjugating enzyme E2C-binding protein||612495|REc|||| | ||
6.582|10|15|13|6q14.2|MRAP2, C6orf117, BMIQ18|P|Melanocortin 2 receptor accessory protein 2||615410|REc|||{Obesity, susceptibility to, BMIQ18}, 615457 (3)| | ||
6.583|4|17|13|6q15|AKIRIN2|P|Akirin 2||615165|REc|||| | ||
6.584|11|28|01|6q15|BACH2|P|BTB and CNC homology 2||605394|A|||| | ||
6.585|9|1|09|6q15|CASP8AP2, FLASH|P|Caspase 8-associated protein 2||606880|R, REc|||| | ||
6.586|4|1|08|6q15|GJA10, CX62|P|Gap junction protein, alpha-10||611924|REc|||| | ||
6.587|4|1|08|6q14-q15|GJB7, CX25|P|Gap junction protein, beta-7||611921|REc|||| | ||
6.588|9|10|09|6q15|ORC3, ORC3L, LAT|P|Origin recognition complex, subunit 3, S. cerevisiae, homolog of||604972|H, REc|||| | |4(Orc3)|
6.589|3|11|08|6q15|PNRC1, PROL2|P|Proline-rich nuclear receptor coactivator 1||606714|R, REc|||| | ||
6.590|7|10|07|6q15|SLC35A1, CST, CDG2F|C|Solute carrier family 35 (CMP-sialic acid transporter), member 1||605634|R, REc|||Congenital disorder of glycosylation, type IIf, 603585 (3)| | ||
6.591|3|4|10|6q14.3|SNHG5, U50HG|P|Small nucleolar RNA host gene 5||613263|REc|||| | ||
6.592|11|12|09|6q14.3|SNORD50A, RNU50|P|Small nucleolar RNA, C/D box, 50A||613117|REc|||| | ||
6.593|3|4|10|6q14.3|SNORD50B|P|Small nucleolar RNA, C/D box||613264|REc|||| | ||
6.594|3|6|08|6q15|RRAGD, RAGD|P|RAS-related GTP-binding protein D||608268|R, REc|||| | ||
6.595|5|5|09|6q15|SPACA1, SAMP32|P|Sperm acrosome-associated 1||612739|REc|||| | ||
6.596|4|22|02|6q16.1|FUT9|P|Fucosyltransferase 9||606865|A|||| | ||
6.597|10|7|08|6q16.1|MANEA, ENDO|P|Mannosidase, endo-alpha||612327|REc|||| | ||
6.598|5|9|95|6q16.1|POU3F2, OCT7|P|POU domain, class 3, transcription factor 2||600494|REa, A|||| | |4(Pou3f2)|
6.599|6|18|99|6q15|RNGTT, HCE1, CAP1A|P|RNA guanylyltransferase and 5'-phosphatase||603512|RE, R|||| | ||
6.600|4|20|10|6q16.1|KIAA0776, NLBP|P|KIAA0776 gene||613372|R, REc|||| | ||
6.601|10|28|08|6q21|MICAL1, NICAL, MICAL|P|Microtubule-associated monooxygenase, calponin and LIM|domains-containing 1|607129|R, REc|||| | ||
6.602|7|22|09|6q16.1|NDUFAF4, HRPAP20, C6orf66|C|NADH dehydrogenase 1 alpha subcomplex, assembly factor 4||611776|REc, Fd|||Mitochondrial complex I deficiency, 252010 (3)| | ||
6.603|10|15|07|6q15|RARS2, RARSL, PCH6|C|Arginyl-tRNA synthetase 2||611524|REc, Fd|||Pontocerebellar hypoplasia, type 6, 611523 (3)| | ||
6.604|11|1|13|6q16.1|FBXL4, FBL4, MTDPS13|P|F-box and leucine-rich repeat protein 4||605654|REc|||Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type),|615471 (3) | |4(Fbxl4)|
6.605|2|2|10|6q16.1|FHL5, ACT|C|Four-and-a-half LIM domains 5||605126|REc, A|||| | ||
6.606|5|13|02|6q16.1|GPR63|P|G protein-coupled receptor 63||606915|REc|||| | ||
6.607|7|18|01|6q16.2|MCHR2, MCH2R, SLT, MCH2|P|Melanin-concentrating hormone receptor 2||606111|REc, R, A|||| | ||
6.608|4|23|08|6q16.2-q22.1|LMPH1B|P|Lymphedema, hereditary, IB||611944|Fd|max lod at D6S1671||Lymphedema, hereditary, IB (2)| | ||
6.609|9|8|11|6q16.3|ASCC3, p200|P|Activating signal cointegrator 1 complex, subunit 3||614217|REc|||| | ||
6.610|4|5|00|6q16.3|SIM1|C|Single-minded, Drosophila, homolog of, 1||603128|A, R, Ch|||Obesity, severe, 601665 (3)| | |10(Sim1)|
6.611|4|30|09|6q16.3-q22.1|BOP|P|Polymicrogyria, bilateral occipital||612691|Fd|||Polymicrogyria, bilateral occipital (2)| | ||
6.612|9|11|12|6q16.3-q22.31|GEFSP8|P|Generalized epilepsy with febrile seizures plus, type 8||613828|Fd|between D6S962 and D6S287||Epilespy, generalized, with febrile seizures plus, type 8 (2)| | ||
6.613|7|11|97|6q21|AIM1, ST4|C|Absent in melanoma 1||601797|M, A|||| | |10(Aim1)|
6.614|9|9|13|6q21|AK9|P|Adenylate kinase 9||615358|REc|||| | ||
6.615|10|24|00|6q21|APG5L|P|Autophagy 5, S. cerevisiae, homolog of||604261|A|||| | ||
6.616|4|10|90|6q21|BKMA1|P|Banded krait minor satellite DNA-1||109780|A|related to heterogametic sex||| | |17(Bkma1)|
6.617|3|8|00|6q21|BVES, HBVES|P|Blood vessel epicardial substance||604577|REc|||| | ||
6.618|7|10|95|6q16.2|CCNC|C|Cyclin C||123838|A|||| | ||
6.619|9|7|12|6q21|CD24|P|CD24 antigen||600074|A, Psh|pseudogenes at 15q21-q22; Yq11||| | ||
6.620|9|8|08|6q21|CD164|P|CD164 antigen||603356|A|||| | ||
6.621|7|18|12|6q21|CDK19, KIAA1028|P|Cyclin-dependent kinase 19||614720|REc, R|||| | ||
6.622|8|8|13|6q21|DDO, DASOX|P|D-aspartate oxidase||124450|REc|||| | ||
6.623|7|1|13|6q21|FIG4, KIAA0274, SAC3, ALS11, YVS|P|Fig4, S. cerevisiae, homolog of||609390|R, REc|||Charcot-Marie-Tooth disease, type 4J, 611228 (3); Amyotrophic lateral|sclerosis 11, 612577 (3); Yunis-Varon syndrome, 216340 (3) | ||
6.624|9|9|08|6q21|FOXO3A, FOXO3, FKHRL1|P|Forkhead box O3A||602681|A|||| | ||
6.625|1|4|93|6q21|FYN|P|FYN oncogene related to SRC, FGR, YES||137025|REa, A|proximal 6q21||| | |10(Fyn)|
6.626|1|5|07|6q22.1|GOPC, PIST, FIG, CAL|C|Golgi-associated PDZ and coiled-coil domains-containing protein||606845|REc|||?Globozoospermia, 102530 (1)| | ||
6.627|10|15|07|6q16.3|GRIK2, GLUR6, MRT6|C|Glutamate receptor, ionotropic, kainate 2||138244|REa, R, Fd|||Mental retardation, autosomal recessive, 6, 611092 (3)| | ||
6.628|2|11|08|6q21|GTF3C6, C6orf51|P|General transcription factor 3C, polypeptide 6||611784|REc|||| | ||
6.629|3|29|07|6q16.3|HACE, KIAA1320|P|HECT domain- and ankyrin repeat-containing E3 ubiquitin protein ligase|1|610876|REc|||| | ||
6.630|1|8|01|6q21|HDAC2|C|Histone deacetylase 2||605164|Psh, A|||| | |10(Hdac2)|
6.631|2|13|06|6q22.31|HEY2, HERP1, GRL|P|Hairy/enhancer of split-related with YRPW motif 2||604674|A, R|||| | ||
6.632|10|4|01|6q21|HTX3|L|Heterotaxy, visceral, 3, autosomal||606325|Ch|||?Heterotaxy, visceral, 3, autosomal (2)| | ||
6.633|12|9|98|6q21|IDDM15|C|Insulin-dependent diabetes mellitus-15||601666|Fd|||{Diabetes mellitus, insulin-dependent, 15} (2)| | ||
6.634|5|24|13|6q21|LAMA4, LAMA3, CMD1JJ|P|Laminin, alpha-4||600133|A, REb|||Cardiomyopathy, dilated, 1JJ, 615235 (3)| | ||
6.635|7|23|09|6q21|LGV2|P|Longevity 2||606460|Fd|associated with rs2802292||[Longevity 2] (2)| | ||
6.636|8|20|07|6q16-q21|LIN28B|P|Lin28, C. elegans, homolog of, B||611044|REc, H|||| | |6(Lin28b)|
6.637|1|31|11|6q21|MCOPS8, MMEP|P|Microphthalmia, syndromic 8||601349|Ch|translocation with 13q12||Microphthalmia, syndromic 8 (2)| | ||
6.638|7|20|09|6q21|MENAQ2|P|Menarche, age at, QTL2||612882|Fd|associated with rs7759938||{Menarche, age at, QTL2} (2)| | ||
6.639|5|14|09|6q22.31|NKAIN2, TCBA|P|Na+/K+ transporting ATPase interacting 2||609758|REc, Ch|fused with SUSP1 in T-cell lymphoma/leukemia||| | ||
6.640|6|4|99|6q21|NR2E1, TLX|P|Nuclear receptor subfamily 2, group E, member 1 (tailless, Drosophila,|homolog of)|603849|REc|||| | ||
6.641|10|3|07|6q21|OSTM1, GL, OPTB5|P|Osteopetrosis associated transmembrane protein 1|(grey-lethal, mouse, homolog of)|607649|REc|||Osteopetrosis, autosomal recessive 5, 259720 (3)| | ||
6.642|5|24|12|6q21|PDSS2, DLP1, C6orf210, COQ10D3|C|Prenyl diphosphate synthase, subunit 2||610564|REc|||Coenzyme Q10 deficiency, primary, 3, 614652 (3)| | ||
6.643|10|14|09|6q21|POPDC3, POP3|P|Popeye domain-containing protein 3||605824|R, REc|||| | ||
6.644|3|29|99|6q21|REV3L, POLZ, REV3|P|Rev-3, yeast, homolog-like (polymerase, DNA, zeta)||602776|REn|conflicting assignment on chr.1||| | ||
6.645|10|28|10|6q21|RTN4IP1, NIMP|P|Reticulon 4-interacting protein 1||610502|REc|||| | ||
6.646|5|31|05|6q21|SEC63|P|Sec63, S. cerevisiae, homolog of||608648|A|||Polycystic liver disease, 174050 (3)| | ||
6.647|1|11|07|6q21|SESN1, SEST1, PA26|C|Sestrin 1||606103|REa, A, Ch|||| | |4(Pa26)|
6.648|3|22|07|6q21|SLC22A16, FLIPT2, CT2|C|Solute carrier family 22 (organic cation transporter), member 16||608276|REc, A|||| | ||
6.649|7|25|06|6q21|SNX3|C|Sorting nexin 3||605930|R, REc, Ch|t(6;13)(q21;q12)||| | ||
6.650|12|16|10|6q21|SOBP, JXC1, MRAMS|P|Sine oculis-binding protein, Drosophila, homolog of||613667|REc|||Mental retardation, anterior maxillary protrusion, and strabismus,|613671 (3) | ||
6.651|11|15|13|6q21|TRAF3IP2, C6orf5, ACT1, CIKS, C6orf4, C6orf6, PSORS13, CANDF8|P|TRAF3-interacting protein 2||607043|REc|mutation identified in 1 family with CANDF8||{Psoriasis susceptibility 13}, 614070 (3);|?Candidiasis, familial, 8, 615527 (3) | ||
6.652|7|22|09|6q21|TUBE1, TUBE|P|Tubulin, epsilon-1||607345|REc|||| | ||
6.653|3|24|06|6q22.1|VGLL2, VGL2, VITO1|P|Vestigial-like 2||609979|REc|||| | ||
6.654|7|1|11|6q21|ZBTB24, PATZ2, ZNF450, KIAA0441, ICF2|C|Zinc finger- and BTB domain-containing protein 24||614064|R, REc|||Immunodeficiency-centromeric instability-facial anomalies syndrome-2,|614069 (3) | ||
6.655|11|20|95|6q21|AMD1|C|S-adenosylmethionine decarboxylase-1||180980|REa|pseudogene AMD2 on Xq28||| | ||
6.656|12|22|00|6q21-q22|CMDR|P|Craniometaphyseal dysplasia, autosomal recessive||218400|Fd|||Craniometaphyseal dysplasia, autosomal recessive (2)| | ||
6.657|8|18|04|6q21-q22|PLF|P|Pulmonary function||608852|Fd|close to D6S281||{Pulmonary function} (2)| | ||
6.658|2|28|03|6q21|SLC16A10, TAT1|P|Solute carrier family 16 (monocarboxylic acid transporter), member|10|607550|R, A|||| | ||
6.659|1|29|01|6q21|WASF1, WAVE, WAVE1, SCAR1|C|Wiskott-Aldrich syndrome protein family, member 1||605035|R, A|||| | ||
6.660|6|12|95|6q21|GPR6|C|G protein-coupled receptor-6||600553|A|||| | ||
6.661|6|18|99|6q21|PRDM1, BLIMP1|P|PR domain-containing protein 1 (B-lymphocyte-induced maturation|protein 1)|603423|REc, Psh|||| | |10(Blimp1)|
6.662|8|9|99|6q22.1|COL10A1|C|Collagen X, alpha-1 polypeptide||120110|REa, A|||Metaphyseal chondrodysplasia, Schmid type, 156500 (3)| | |10(Col10a1)|
6.663|1|7|02|6q22.1|FRK, RAK, GTK|P|FYN-related kinase||606573|REc|||| | ||
6.664|9|9|13|6q22.31|GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR|C|Gap junction protein, alpha-1, 43kD (connexin 43)||121014|REa|pseudogene on chr.5; heterotaxia associated with GJA1 disproved||Oculodentodigital dysplasia, 164200 (3); Syndactyly, type III,|186100 (3); Hypoplastic left heart syndrome 1, 241550 (3); Atrioventricular septal defect 3, 600309 (3); Oculodentodigital dysplasia, autosomal recessive,|257850 (3); Craniometaphyseal dysplasia, autosomal recessive, 218400 (3) |10(Gja1)|
6.665|8|11|91|6q24.1|NMBR|P|Neuromedin B receptor||162341|Psh|||| | ||
6.666|11|22|13|6q22.1|DSE, SART2, EDSMC2|P|Dermatan sulfate epimerase||605942|REc|mutation identified in 1 family||?Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3)| | ||
6.667|9|28|00|6q23.2|ENPP3, PDNP3|P|Ectonucleotide pyrophosphatase/phosphodiesterase 3||602182|A|||| | ||
6.668|9|10|09|6q22.31|MAN1A1|P|Mannosidase, alpha, class 1A, member 1||604344|REc|||| | ||
6.669|12|07|07|6q23.3|MYB|C|Avian myeloblastosis viral (v-myb) oncogene homolog||189990|REa, A, Ch|||{T-cell acute lymphoblastic leukemia} (3)| | |10(Myb)|
6.670|2|10|97|6q21|PREP|P|Prolyl endopeptidase||600400|A|||| | ||
6.671|1|4|93|6q22.1|ROS1, MCF3|C|Avian UR2 sarcoma virus oncogene (v-ros) homolog 1||165020|REa, A|||| | |10(Ros1)|
6.672|2|17|09|6q23.3|BCLAF1, BTF, KIAA0164|P|BCL2-associated transcription factor 1||612588|R, REc|||| | ||
6.673|11|19|13|6q23.2|ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED|C|Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen,|mouse, homolog of)|173335|A, H|||Ossification of posterior longitudinal ligament of spine, 602475 (3);|{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3); {Obesity, susceptibility to}, 601665 (3); Arterial calcification, generalized,|of infancy, 1, 208000 (3); Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3); Cole disease, 615522 (3)|10(Ly41, Pca1)|
6.674|11|3|98|6q23.1-q23.2|EPB41L2|P|Erythrocyte membrane protein band 4.1-like 2||603237|A|||| | ||
6.675|3|18|10|6q22.31|FABP7, FABPB, BLBP|P|Fatty acid-binding protein 7||602965|REc|||| | ||
6.676|1|7|14|6q22-q23|IGAN1|P|IgA nephropathy, susceptibility to, 1||161950|Fd|||IgA nephropathy, susceptibility to, 1 (2)| | ||
6.677|6|11|03|6q22.33|LAMA2, LAMM|C|Laminin, alpha-2 (merosin)||156225|REa, A, Fd|||Muscular dystrophy, congenital merosin-deficient, 607855 (3);|Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3) | |10(dy, Lamm)|
6.678|4|17|00|6q22-q23|SM2|P|Hepatic fibrosis susceptibility due to Schistosoma mansoni infection||604201|Fd|?polymorphism of INFGR1||{Hepatic fibrosis susceptibility due to Schistosoma mansoni|infection} (2) | ||
6.679|10|15|13|6q22.31|TRDN, TDN, CPVT5|P|Triadin||603283|A|||Ventricular tachycardia, catecholaminergic polymorphic, 5, with or|without muscle weakness, 615441 (3) | ||
6.680|7|19|04|6q22.1|TSPYL1, TSPYL, SIDDT|C|Y-encoded testis-specific protein-like||604714|REa, A, H|||Sudden infant death with dysgenesis of the testes syndrome, 608800|(3) | |10(Tspyl)|
6.681|8|19|04|6q21|WISP3, PPAC, PPD|C|Wnt-1 inducible signaling pathway protein 3||603400|R, A, Fd|||Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3);|Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3) | ||
6.682|6|7|10|6q22.33|ARHGAP18|P|RHO GTPase-activating protein 18||613351|REc|||| | ||
6.683|8|9|05|6q22-q24|FEB5|P|Febrile seizures, familial, 5||609255|Fd|between D6S1572 and D6S472||Febrile seizures, familial, 5 (2)| | ||
6.684|6|27|08|6q22-q24|FIQTL1|P|Fasting insulin level quantitative trait locus 1||606035|Fd|max lod at D6S1569||[Fasting insulin level quantitative trait locus 1] (2)| | ||
6.685|10|18|00|6q23.3|MAP7, EMAP115|L|Microtubule-associated protein-7||604108|H|||| | |10(Map7)|
6.686|9|8|11|6q22.1|BET3L, TRAPPC3L|P|Bet3, S. cerevisiae, homolog-like||614137|REc|||| | ||
6.687|5|21|03|6q21|CDC40, PRP17|P|Cell division cycle 40, S. cerevisiae, homolog of||605585|REn|||| | ||
6.688|4|11|11|6q22.31|PLN, PLB, CMD1P, CMH18|C|Phospholamban||172405|REc, A|||Cardiomyopathy, dilated, 1P, 609909 (3); Cardiomyopathy, familial|hypertrophic, 18, 613874 (3) | ||
6.689|3|19|09|6q22.1|RSPH4A, CILD11|P|Radial spoke head 4, Chlamydomonas, homolog of, A||612647|REc|||Ciliary dyskinesia, primary, 11, 612649 (3)| | ||
6.690|8|18|08|6q22.33|RNF146|P|Ring finger protein 146||612137|REc|||| | ||
6.691|6|29|94|6q21|MRACKS, MACS, PKCSL|C|Myristoylated alanine-rich protein kinase C substrate (MARCKS,|80K-L)|177061|REb, REa|monomorphic||| | |10(Macs)|
6.692|5|4|12|6q22.1|RFX6, RFXDC1, MTFS|P|Regulatory factor X, 6||612659|REc|||Martinez-Frias syndrome, 601346 (3)| | ||
6.693|5|26|13|6q22.33|RSPO3, PWTSR, CRISTIN1|P|R-spondin family member 3||610574|REc|||| | |10(Rspo3)|
6.694|5|20|99|6q22.33|PTPRK|C|Protein-tyrosine phosphatase, receptor type, kappa||602545|REa, A, REc|||| | |10(Ptprk)|
6.695|4|20|10|6q23.2|C6orf192|P|Chromosome 6 open reading frame 192||613361|REc|||| | ||
6.696|8|23|05|6q22.31|HSF2|P|Heat-shock transcription factor 2||140581|R, REc|||| | ||
6.697|2|3|05|6q22.31|ASF1A, CIA|P|Anti-silencing function 1, S. cerevisiae, homolog of, A||609189|REc|||| | ||
6.698|6|30|05|6q21-q22|HS3ST5, 3OST5|P|Heparan sulfate 3-O-sulfotransferase 5||609407|REc|||| | ||
6.699|1|5|09|6q22.1|NUS1, NGBR, C6orf68|P|Nuclear undecaprenyl pyrophosphate synthase 1, S. cerevisiae, homolog|of|610463|REc|||| | ||
6.700|9|10|09|6q22.31|PKIB|P|Protein kinase, cAMP-dependent catalytic, inhibitor beta||606914|R, REc|||| | ||
6.701|4|2|12|6q22.31|SERINC1, TMS2, KIAA1253|P|Serine incorporator 1||614548|REc|||| | ||
6.702|1|29|07|6q22.31|SMPDL3A, ASML3A|P|Sphingomyelin phosphodiesterase, acid-like, 3A||610728|REc, R|||| | ||
6.703|5|25|13|6q22.31|TPD52L1, D53|P|Tumor protein D52-like 1||604069|REc, A|||| | |10(Tdp52l1)|
6.704|4|6|13|6q22.32|CEMPW, C6orf173, CUG2|P|Centromeric protein W||611264|REc|||| | ||
6.705|8|18|08|6q22.33|ECHDC1|P|Enoyl coenzyme A hydratase domain-containing protein 1||612136|REc|||| | ||
6.706|3|24|06|6q22.32|HINT3|P|Histidine triad nucleotide-binding protein 3||609998|REc|||| | ||
6.707|6|23|99|6q23.3|MAP3K5, MEKK5, MAPKKK5, ASK1|P|Mitogen-activated protein kinase kinase kinase 5||602448|R|||| | ||
6.708|12|23|05|6q22.32|NCOA7, ERAP140|P|Nuclear receptor coactivator 7||609752|REc|||| | ||
6.709|1|27|11|6q22.33|THEMIS, GASP, SPOT, C6ORF190|P|Thymocyte-expressed molecule involved in selection||613607|REc|||| | |10(Themis)|
6.710|11|13|07|6q22.3-q23.1|HBFQTL2, FCP|P|Fetal hemoglobin quantitative trait locus 2||142470|Fd|||Fetal hemoglobin quantitative trait locus 2 (2)| | ||
6.711|10|9|96|6q25.1|PCMT1|P|Protein-L-isoaspartate (D-aspartate) O-methyltransferase||176851|REa, A|||| | |10(Pcmt1)|
6.712|12|3|03|6q23.2|ARG1|C|Arginase, liver||608313|REa|||Argininemia, 207800 (3)| | ||
6.713|4|4|11|6q23|CMD1F, CDCD3, LGMD1D|P|Cardiomyopathy, dilated-1F, autosomal dominant||602067|Fd|||Cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy|type 1D (2) | ||
6.714|4|25|05|6q23.2|EYA4, DFNA10, CMD1J|C|Eyes absent, Drosophila, homolog of, 4||603550|R, Fd, A|||Deafness, autosomal dominant 10, 601316 (3); Cardiomyopathy, dilated,|1J, 605362 (3) | ||
6.715|3|15|10|6q23|HCHGQ1|P|Hematocrit/hemoglobin quantitative trait locus 1||609319|Fd|||[Hematocrit/hemoglobin quantitative trait locus 1] (2)| | ||
6.716|3|19|01|6q23.3|IL20RA|P|Interleukin 20 receptor, alpha||605620|REc|||| | ||
6.717|2|25|12|6q23|RP63|P|Retinitis pigmentosa 63||614494|Fd|between D6S457 and D6S1656||Retinitis pigmentosa 63 (2)| | ||
6.718|1|31|08|6q23|RA|P|Rheumatoid arthritis, susceptibility to||180300|REc|associated with SNP rs10499194 and rs6920220||{Rheumatoid arthritis, susceptibility to} (2)| | ||
6.719|1|13|99|6q23.2|SGK1|P|Serum/glucocorticoid-regulated kinase 1||602958|A|||| | ||
6.720|10|30|08|6q23|SLEB13|P|Systemic lupus erythematosus, susceptibility to, 13||612378|associated with rs5029939|||{Systemic lupus erythematosus, susceptibility to, 13} (2)| | ||
6.721|7|13|98|6q22.31|STL|P|Six-twelve leukemia gene||602532|REc|||| | ||
6.722|1|30|08|6q23.3|TNFAIP3, A20, OTUD7C|P|Tumor necrosis factor-alpha-induced protein 3||191163|REc|||| | ||
6.723|1|25|93|6q24.2|HIVEP2|P|Human immunodeficiency virus type I enhancer-binding protein-2||143054|REa, A|||| | ||
6.724|8|15|13|6q23.3|IFNGR1|C|Immune interferon, receptor for||107470|S, A, Fd|?both 6 and 18 required||Mycobacterial infection, atypical, familial disseminated, 209950 (3);|BCG infection, generalized familial, 209950 (3); {H. pylori infection, susceptibility to}, 600263 (3); {Tuberculosis, susceptibility to}, 607948 (3);|{Mycobacterium tuberculosis infection, protection against}, 607948 (3); {Hepatitis B virus infection, susceptibility to}, 610424 (3)|10(Ifgr)|
6.725|5|2|08|6q23-q24|MAFD6, BPAD|P|Major affective disorder 6||611536|Fd|||{Major affective disorder 6} (2)| | ||
6.726|3|5|98|6q23-q24|NTT|P|Noncoding transcript in T cells||602154|A|||| | ||
6.727|12|21|09|6q23.3|PBOV1, UROC28, UC28|P|Prostate and breast cancer overexpressed 1||605669|A|||| | ||
6.728|11|23|98|6q23.2|TCF21, POD1|L|Transcription factor-21 (epicardin; podocyte-expressed 1)||603306|H|||| | |10(Tcf21)|
6.729|12|17|07|6q23.2|VNN1, HDLCQ8|C|Vanin 1||603570|A, H, Psh|||[High density lipoprotein cholesterol level QTL 8] (3)| | |10(Vnn1)|
6.730|6|18|99|6q23.2|VNN2|C|Vanin 2||603571|A, Psh, REc|||| | ||
6.731|2|20|02|6q23.2|VNN3|P|Vanin 3||606592|REc|||| | |10(Vnn3)|
6.732|4|27|12|6q23-q24.1|SPG25|P|Spastic paraplegia 25, autosomal recessive, with disc herniation||608220|Fd|||Spastic paraplegia 25, autosomal recessive (2)| | ||
6.733|10|08|08|6q23-q25|BMIQ3|P|Body mass index quantitative trait locus 3||607446|Fd|max lod at D6S305||[Body mass index QTL3] (2)| | ||
6.734|9|22|04|6q23-q25|LNCR1|P|Lung cancer 1||608935|Fd|max hlod at D6S2436||{Lung cancer susceptibility} (2)| | ||
6.735|7|11|93|6q23.2|CTGF, NOV2|P|Connective tissue growth factor||121009|REa, A|proximal to MYB||| | ||
6.736|7|1|05|6q23.2|TAAR1, TA1|C|Trace amine-associated receptor 1||609333|R, REc|||| | |10(Taar1)|
6.737|11|2|04|6q23.2|MOXD1, MOX|P|Monooxygenase, DBH-like, 1||609000|R, REc|||| | ||
6.738|9|18|12|6q24.1|REPS1|P|RALBP1-associated EPS domain-containing protein 1||614825|REc|||| | ||
6.739|9|1|09|6q23.3|ALDH8A1, ALDH12|P|Aldehyde dehydrogenase 8 family, member A1||606467|R, REc|||| | ||
6.740|5|28|02|6q23.2|GPR102, TA5|C|G protein-coupled receptor 102||606927|REc, R|||| | ||
6.741|9|26|11|6q23.2|MED23, MRT18|P|Mediator complex subunit 23||605042|REc|||Mental retardation, autosomal recessive 18, 614249 (3)| | ||
6.742|2|28|03|6q23.2|PNR|C|Putative neurotransmitter receptor||607405|A, REc|||| | ||
6.743|8|19|13|6q23.2|SLC2A12, GLUT12|P|Solute carrier family 2 (facilitated glucose transporter), member 12||610372|REc, R|||| | |10(Slc2a12)|
6.744|9|22|04|6q23.2|STX7|C|Syntaxin 7||603217|REa, REc|||| | ||
6.745|12|5|03|6q23.2|TAR3, TA3|P|Trace amine receptor 3||608282|R|||| | ||
6.746|5|5|09|6q23.2|TAAR6, TRAR4|P|Trace amine-associated receptor 6||608923|REc|||| | ||
6.747|9|15|04|6q23.3|AHI1|C|Abelson helper integration site 1||608894|Fd, REc, R|||Joubert syndrome-3, 608629 (3)| | ||
6.748|1|18|12|6q24.1|CITED2, MRG1, P35SRJ, VSD2, ASD8|P|CBP/p300-interacting transactivator, with glu/asp-rich C-terminal|domain, 2|602937|REc|?pseudogene on 1q22||Ventricular septal defect 2, 614431 (3); Atrial septal defect 8,|614433 (3) | ||
6.749|5|29|12|6q23.3|MPVQTL5|P|Mean platelet volume quantitative trait locus 5||614645|Fd|associated with rs9399137||Mean platelet volume QTL5 (2)| | ||
6.750|7|1|05|6q23.3|OLIG3, BHLHB7|P|Oligodendrocyte lineage transcription factor 3||609323|REc|||| | ||
6.751|10|25|12|6q23.3|PEX7, RCDP1, PBD9B|P|Peroxisomal biogenesis factor-7||601757|REa, R, REc|||Rhizomelic chondrodysplasia punctata, type 1, 215100 (3);|Peroxisome biogenesis disorder 9B, 614879 (3) | ||
6.752|1|7|09|6q23.3|SLC35D3|P|Solute carrier family 35, member D3||612519|REc, H|||| | |10(Slc35d3)|
6.753|8|27|01|6q23.3|C6orf34, SOUL|P|Soul, chicken, homolog of||605825|REc|||| | ||
6.754|2|27|03|6q24.3|EPM2A, MELF, EPM2|C|Laforin||607566|Fd|||Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)| | ||
6.755|9|9|08|6q24.3|FBXO30, FBX30|P|F-box only protein 30||609101|REc|||| | |10(Fbxo30)|
6.756|9|28|12|6q24.3|GRM1, MGLUR1, GRM1A, SCAR13|C|Glutamate receptor, metabotropic, 1||604473|REa, A|||Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)| | ||
6.757|12|24|08|6q23.3|HBS1L, KIAA1038, ERFS|P|HBS1-like protein||612450|REc|||| | ||
6.758|11|15|08|6q24.2|HYMAI|C|Hydatidiform mole-associated and imprinted transcript||606546|REc, Ch, Fd|||| | ||
6.759|2|28|03|6q24.2|PLAGL1, ZAC, LOT1|C|Pleomorphic adenoma gene-like 1 (ZAC tumor suppressor)||603044|A, REc, Ch, Fd|relaxed imprinting in TNDM||{Diabetes mellitus, transient neonatal}, 601410 (1)| | |10(Zac)|
6.760|3|13|06|6q24.2|STX11, FHL4, HPLH4, HLH4|C|Syntaxin-11||605014|Fd, REc|||Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)| | ||
6.761|4|26|05|6q23.2|TAAR2, GPR58|P|Trace amine-associated receptor 2||604849|A|||| | ||
6.762|7|8|96|6q24.2|UTRN, DMDL, DRP1|C|Utrophin (homologous to dystrophin)||128240|REa, F, Fd, A|near dy in mouse||| | |10(Dmdl)|
6.763|9|30|10|6q24-q25|DEL6q24q25, C6DELq25q25|P|Chromosome 6q24-q25 deletion syndrome||612863|Ch|||Chromosome 6q25-q25 deletion syndrome (4)| | ||
6.764|9|29|09|6q25.1|IYD, DEHAL1, TDH4|P|Iodotyrosine deiodinase||612025|REc|||Thyroid dyshormonogenesis 4, 274800 (3)| | ||
6.765|10|8|09|6q25.2|OPRM1|C|Opioid receptor, mu-1||600018|A|||| | |10(Oprm)|
6.766|3|10|03|6q25.1|PPIL4|P|Peptidyl-prolyl isomerase-like 4||607609|REc, Psh|||| | ||
6.767|2|17|09|6q24-q25|STQTL1|C|Stature quantitative trait locus 1||606255|Fd|associated with rs4896582 and rs3748069||{Stature QTL 1} (2)| | ||
6.768|8|28|92|6q25.3|MAS1|C|Oncogene MAS1||165180|A, REa|||| | |17(Mas1)|
6.769|4|17|07|6q24.1|C6orf55, SBP1, LIP5, VTA1, DRG1|P|SKD1-binding protein 1||610902|R, REc|||| | ||
6.770|8|2|13|6q24.1|CCDC28A, C6orf80|P|Coiled-coil domain-containing 28A||615353|REc|||| | ||
6.771|2|17|09|6q24.1|GPR126, VIGR|C|G protein-coupled receptor 126||612243|REc, H|||| | |10(Gpr126)|
6.772|1|30|02|6q23.3|IL22BP, IL22RA2|C|Interleukin 22-binding protein||606648|REc, R|||| | ||
6.773|9|9|13|6q24.2|ADAT2, TAD2|P|Adenosine deaminase, tRNA-specific, 2||615388|REc|||| | ||
6.774|2|24|12|6q24.2|FUCA2|C|Fucosidase, alpha-L- 2, plasma||136820|F|linked to PLG||| | ||
6.775|10|25|12|6q24.2|PEX3, PBD10A|C|Peroxisomal biogenesis factor-3||603164|REc, A|||Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3)| | ||
6.776|7|16|12|6q24.2|PHACTR2, KIAA0680|P|Phosphatase and actin regulator 2||608724|R, REc|||| | ||
6.777|5|5|09|6q24.2-q25.2|DUH1, DUH|P|Dyschromatosis universalis hereditaria 1||127500|Fd|max lod at D6S1553||Dyschromatosis universalis hereditaria 1 (2)| | ||
6.778|8|20|07|6q25.1|RAET1L|P|Retinoic acid early transcript 1L||611047|REc|||| | ||
6.779|6|1|12|6q24.3|ADGB|P|Androglobin||614630|REc|||| | ||
6.780|12|5|03|6q25.1|NUP43|P|Nucleoporin, 43kD||608141|R, REc|||| | ||
6.781|2|21|10|6q25.1|PPP1R14C, KEPI|P|Protein phosphatase 1, regulatory subunit 14C||613242|REc|||| | ||
6.782|7|22|09|6q24.3|RAB32|C|Ras-associated protein RAB32||612906|REc|||| | ||
6.783|2|26|09|6q24.3|SASH1, KIAA0790|C|Sterile alpha motifs- and SH3 domain-containing protein 1||607955|R, REc|||| | ||
6.784|8|24|04|6q24.3|STXBP5|P|Syntaxin-binding protein 5 (tomosyn)||604586|R, REc|||| | ||
6.785|6|30|08|6q25|BMND11|P|Bone mineral density quantitative trait locus 11||612114|Fd|associated with rs4870044, rs1038304, and rs1999805||[Bone mineral density QTL 11] (2)| | ||
6.786|3|23|06|6q25.3|FNDC1, AGS8, KIAA1866|P|Fibronectin type III domain-containing protein 1||609991|R, REc|||| | ||
6.787|1|7|09|6q25|IDDM21|P|Diabetes mellitus, insulin-dependent, 21||612521|Fd|associated with rs1738074||{Diabetes mellitus, insulin-dependent, 21} (2)| | ||
6.788|11|12|12|6q25.1|RMND1, COXPD11|P|Required for meiotic nuclear division 1, S. cerevisiae, homolog of||614917|REc|||Combined oxidative phosphorylation deficiency 11, 614922 (3)| | ||
6.789|11|20|13|6q25.1-q25.2|SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4|C|Spectrin repeat-containing nuclear envelope protein 1|(nesprin 1)|608441|A, Fd, REc|||Spinocerebellar ataxia, autosomal recessive 8, 610743 (3);|Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3) | ||
6.790|5|31|05|6q25.1|SUMO4, IDDM5|C|Small ubiquitin-like modifier 4||608829|Fd, REc|||{Diabetes mellitus, insulin-dependent, 5}, 600320 (3)| | ||
6.791|7|23|13|6q25.1|TAB2, MAP3K7IP2, KIAA0733, CHTD2|P|TGF-beta activated kinase 1/MAP3K7-binding protein 2||605101|R, REc|||Congenital heart defects, nonsyndromic, 2, 614980 (3)| | ||
6.792|9|10|09|6q25.3|TFB1M, CGI75|P|Transcription factor B1, mitochondrial||607033|R, REc|||| | ||
6.793|2|28|01|6q25.1|ULBP1|P|UL16-binding protein 1||605697|REn|||| | ||
6.794|2|28|01|6q25.1|ULBP2|P|UL16-binding protein 2||605698|REn|||| | ||
6.795|2|28|01|6q25.1|ULBP3|P|UL16-binding protein 3||605699|REn|||| | ||
6.796|9|9|08|6q25.2|FBXO5, FBX5, EMI1|P|F-box only protein 5||606013|A, H|||| | |10(Fbxo5)|
6.797|12|29|89|6q25-q26|RCD1|L|Retinal cone dystrophy-1||180020|Ch|||?Retinal cone dystrophy-1 (2)| | ||
6.798|6|29|94|6q25.3|VIL2, CVL|C|Villin-2 (cytovillin)||123900|REa, A|coamplified with MYB||| | ||
6.799|12|9|98|6q25-q27|IDDM8|P|Insulin-dependent diabetes mellitus-8||600883|Fd|||{Diabetes mellitus, insulin-dependent, 8} (2)| | ||
6.800|1|29|04|6q26|PACRG|P|Parkin coregulated gene||608427|REc|shares 5' regulatory region and both 3' UTRs with PARK2||| | |17(Pacrg)|
6.801|11|30|00|6q25.3|WTAP|C|Wilms tumor 1-associating protein||605442|REa, A|||| | |17(Wtap)|
6.802|4|2|12|6q25.3|ARID1B, BAF250B, KIAA1235, MRD12|C|AT-rich interaction domain-containing protein 1B||614556|R, REc|||Mental retardation, autosomal dominant 12, 614562 (3)| | ||
6.803|8|19|13|6q25.1|ESR1, ESR, ESTRR|C|Estrogen receptor 1||133430|REa, A|||Estrogen resistance, 615363 (3); {HDL response to hormone|replacement, augmented} (3); {Migraine, susceptibility to}, 157300 (3); {Atherosclerosis, susceptibility to} (3); {Myocardial infarction,|susceptibility to}, 608446 (3); {Breast cancer}, 114480 (1) |10(Esr)|
6.804|9|10|09|6q25.1|KATNA1|P|Katanin, p60 subunit, A1||606696|R, REc|||| | ||
6.805|7|19|12|6q25.1|LATS1|P|Large tumor suppressor, Drosophila, homolog of, 1||603473|REc|||| | ||
6.806|9|10|09|6q25.3|NOX3|P|NADPH oxidase 3||607105|REc|||| | ||
6.807|2|12|07|6q25.1|UST|P|Uronyl 2-sulfotransferase||610752|R, REc|||| | ||
6.808|6|13|07|6q25.1|ZC3H12D, p34, C6orf95|P|Zinc finger CCCH domain-containing protein 12D||611106|REc|||| | ||
6.809|8|28|97|6q25.3|TCTEL1|P|T-complex-associated-testis-expressed 1-like 1||601554|A|||| | ||
6.810|10|2|12|6q25.2-q25.3|TIAM2|P|T-cell lymphoma invasion and metastasis 2||604709|REc|||| | ||
6.811|1|29|04|6q26|PRKN, PARK2, PDJ, LPRS2|C|Parkin||602544|Fd, D|shares 5' regulatory region and both 3' UTRs with PACRG||Parkinson disease, juvenile, type 2, 600116 (3); Adenocarcinoma of|lung, somatic, 211980 (3); Adenocarcinoma, ovarian, somatic, 167000 (3); {Leprosy, susceptibility to}, 607572 (3)| |17(Park2)|
6.812|5|28|08|6q25.3|CELIAC12|P|Celiac disease, susceptibility to, 12||612010|Fd|in LD block containing TAGAP||{Celiac disease, susceptibility to, 12} (2)| | ||
6.813|11|20|08|6q25.3|GTF2H5, TTDA, TFB5, C6orf175|C|General transcription factor IIH, polypeptide 5||608780|REc, REn|||Trichothiodystrophy, complementation group A, 601675 (3)| | ||
6.814|2|28|08|6q25.3|MRPL18|P|Mitochondrial ribosomal protein L18||611831|REc|||| | ||
6.815|7|25|12|6q25.3|SERAC1, MEGDEL|P|Serine active site-containing protein 1||614725|REc|||3-methylglutaconic aciduria with deafness, encephalopathy, and|Leigh-like syndrome, 614739 (3) | ||
6.816|7|9|09|6q25.3|SOD2, MNSOD, MVCD6|C|Superoxide dismutase-2, mitochondrial||147460|S, D, REa, A|||{Microvascular complications of diabetes 6}, 612634 (3)| | |17(Sod2)|
6.817|6|30|05|6q25.3|SYNJ2, KIAA0348|P|Synaptojanin 2||609410|R, H|||| | |17(Synj2)|
6.818|12|28|08|6q25.3|TAGAP|P|T-cell activation GTPase-activating protein||609667|R, REc|||| | ||
6.819|2|18|10|6q25.3|TMEM181, GPR178, KIAA1423|P|Transmembrane protein 181||613209|REc|||| | ||
6.820|9|28|96|6q25.3|ACAT2|P|Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A|thiolase)|100678|A|encoded on strand opposite TCP1||?ACAT2 deficiency, 614055 (1)| | ||
6.821|9|28|96|6q25.3|TCP1|C|T-complex locus TCP-1||186980|REa, H, A, Fd, REn|tightly linked to PLG; ~15cM proximal to TCP10; overlap with|ACAT2|| | |17(Tcp1)|
6.822|9|2|12|6q26|AGPAT4|P|1-acylglycerol-3-phosphate O-acyltransferase 4||614795|REc|||| | ||
6.823|3|3|10|6q25.3|AIRN, AIR|P|Antisense IGF2R RNA, noncoding||604893|REc|||| | |17(Airn)|
6.824|12|5|13|6q25.3|IGF2R, MPRI|C|Insulin-like growth factor-2 receptor (mannose-6-phosphate receptor,|cation-independent)|147280|REa, A|behaves as a tumor suppressor||Hepatocellular carcinoma, somatic, 114550 (3)| | |17(Igf2r)|
6.825|9|10|09|6q26|MAP3K4, MEKK4, MTK1, MAPKKK4|P|Mitogen-activated protein kinase kinase kinase 4||602425|REa, REc|||| | ||
6.826|12|9|98|6q26|PLG|C|Plasminogen||173350|REa, A, LD, F|20cM from TCP10A||Plasminogen Tochigi disease (3); Thrombophilia, dysplasminogenemic|(1); Plasminogen deficiency, types I and II (1); Conjunctivitis, ligneous, 217090 (3)| |17(Plg)|
6.827|8|23|12|6q26|QKI, QK1|P|Quaking, mouse, homolog of||609590|REc|||| | ||
6.828|3|22|06|6q14.2|RIPPLY2, C6orf59|P|Ripply2, zebrafish, homolog of||609891|REc|||| | ||
6.829|6|9|98|6q25.3|SLC22A1, OCT1|P|Solute carrier family 22 (organic cation transporter), member 1||602607|Psh, A|||| | ||
6.830|6|9|98|6q25.3|SLC22A2, OCT2|P|Solute carrier family 22 (organic cation transporter), member 2||602608|Psh, A|||| | |17(Slc22a2)|
6.831|1|27|04|6q26-q27|DFNB38|P|Deafness, autosomal recessive 38||608219|Fd|||Deafness, autosomal recessive 38 (2)| | ||
6.832|9|24|08|6q27|FAM120B, PGCC1, CCPG, KIAA1838|P|Family with sequence similarity 120, member B||612266|REc|||| | |17(Fam120b)|
6.833|12|17|07|6q25.3|LPAL2, APOARGC|P|Lipoprotein(a)-like 2||611682|REc|||| | ||
6.834|11|19|11|6q26-q27|MRT28|P|Mental retardation, autosomal recessive 28||614347|Fd|between rs6935718 and rs3886091||Mental retardation, autosomal recessive 28 (2)| | ||
6.835|11|22|88|6q25.2|VIP|C|Vasoactive intestinal peptide||192320|REa, A, REb|||| | ||
6.836|9|10|09|6q25.3|SNX9, SH3PX1|P|Sorting nexin 9||605952|R, REc|||| | ||
6.837|7|26|12|6q27|BRP44L, MPC1, MPYCD|P|Brain protein 44-like||614738|REc|||Mitochondrial pyruvate carrier deficiency, 614741 (3)| | ||
6.838|9|9|08|6q27|CCR6, CMKBR6, CKRL3, GPR29, GPRCY4|P|Chemokine (C-C) receptor 6||601835|REa|||| | ||
6.839|9|10|09|6q27|DACT2, DPR2, DAPPER2|P|Dapper, antagonist of beta-catenin, 2||608966|REc|||| | ||
6.840|11|27|13|6q27|ERMARD, C6orf70, PVNH6|P|Endoplasmic reticulum membrane-associated RNA degradation protein||615532|REc|||?Periventricular nodular heterotopia 6, 615544 (3)| | ||
6.841|5|21|03|6q27|FGFR1OP, FOP|P|Fibroblast growth factor receptor-1 oncogene partner||605392|REc|fusion gene with ZNF198, CEP1, and FGFR1||Myeloproliferative disorder (2)| | ||
6.842|3|5|98|6q27|GPR31|P|G protein-coupled receptor-31||602043|A|||| | ||
6.843|2|14|13|6q27|KAZA3|P|Kala-azar, susceptibility to, 3||611382|Fd|||{Kala-azar, susceptibility to, 3} (2)| | ||
6.844|3|22|06|6q27|KIF25, KNSL3|P|Kinesin family member 25||603815|A|||| | ||
6.845|5|22|03|6q25-q26|LPA|C|Apolipoprotein Lp(a)||152200|REa, A, F, Fd|absent in mice||{Coronary artery disease, susceptibility to} (1); [LPA deficiency,|congenital] (3) | ||
6.846|5|18|94|6q27|MLLT4, AF6|C|Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 4||159559|Ch, A|distal to OVCS||| | ||
6.847|12|14|95|6q27|PDCD2|C|Programmed cell death 2||600866|A, H|||| | |17(Pdcd2)|
6.848|10|13|09|6q27|PHF10, BAF45A|P|PHD finger protein 10||613069|REc|||| | ||
6.849|6|9|06|6q27|PSMB1|P|Proteasome subunit, beta type, 1||602017|REc|incorrectly assigned to 7p||| | ||
6.850|8|24|09|6q27|RNASET2, RNASE6PL|P|Ribonuclease T2||612944|REc|||Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)| | ||
6.851|12|9|98|6q27|RPS6KA2, RSK3|P|Ribosomal protein S6 kinase, 90kD, 2||601685|REa, A|||| | ||
6.852|10|17|00|6q25.3|SLC22A3, EMT|C|Solute carrier family 22 (extraneuronal monoamine transporter), member|3|604842|A, REc|||| | |17(Slc22a3)|
6.853|1|26|12|6q27|SMOC2, SMAP2, DTDP1|P|Secreted modular calcium-binding protein 2||607223|R, REc|||Dentin dysplasia, type I, with microdontia and misshapen teeth,|125400 (3) | ||
6.854|8|25|06|6q27|T, TFT|P|Brachyury, mouse, homolog of||601397|A, Fd|||{Neural tube defects, susceptibility to}, 182940 (3)| | |17(T)|
6.855|11|15|10|6q27|TBP, SCA17, HDL4|C|TATA box binding protein||600075|REa, A, Fd|||Spinocerebellar ataxia 17, 607136 (3); {Parkinson disease,|susceptibility to}, 168600 (3) | |17(Tbp)|
6.856|8|21|92|6q27|TCTE3|P|T-complex-associated-testis-expressed-3||186977|REa, A|||| | ||
6.857|6|26|08|6q27|THBS2|C|Thrombospondin 2||188061|REa, A|||{Lumbar disc herniation, susceptibility to}, 603932 (3)| | |17(Thbs2)|
6.858|8|28|92|6q27|TCP10|C|T-complex 10 (a murine tcp homolog)||187020|Fd|||| | |17(Tcp10)|
6.859|1|12|07|6q27|UNC93A|P|UNC93, C. elegans, homolog of, A||607995|REc|||| | ||
6.860|9|10|09|Chr.6|BEVI|C|Baboon M7 virus replication||109180|S|||| | ||
6.861|10|23|87|Chr.6|FEA|L|F9 embryonic antigen||137010|H|||| | ||
6.862|9|10|09|Chr.6|LAKLG, LAKL|P|Lymphokine-activated killer cell ligand||153435|S|||| | ||
6.863|10|23|87|Chr.6|MRBC|P|Monkey RBC receptor||158050|S|||| | ||
6.864|10|23|87|Chr.6|TS546|P|Temperature sensitivity complementation, cell cycle specific,|ts546 cells|187330|S|||| | ||
7.1|9|12|93|7p22.3|PRKAR1B|P|Protein kinase, cAMP-dependent, regulatory, type I, beta||176911|Fd|||| | ||
7.2|4|17|13|7p22.3|AMZ1, KIAA1950|P|Archaelysin family metallopeptidase 1||615168|REc|||| | ||
7.3|3|29|12|7p22.3|BRAT1, BAAT1, C7orf27, RMFSL|P|BRCA1-associated ATM activator 1||614506|REc|||Rigidity and multifocal seizure syndrome, lethal neonatal,|614498 (3) | ||
7.4|5|10|04|7p22.3|CENTA1|P|Centaurin, alpha-1||608114|REc|||| | ||
7.5|3|19|13|7p22.3|COX19|P|Cytochrome c oxidase assembly protein Cox19||610429|REc|||| | ||
7.6|12|17|12|7p22.3|ELFN1, PPP1R28|P|Extracellular leucine-rich repeat and fibronectin type III|domain-containing protein 1|614964|REc|||| | ||
7.7|9|8|10|7p22.3|GET4, C7orf20, CEE|P|Golgi to ER traffice protein 4, S. cerevisiae, homolog of||612056|REc|||| | ||
7.8|10|25|12|7p22.3|HEATR2, CILD18|P|HEAT repeat-containing protein 2||614864|REc|||Ciliary dyskinesia, primary, 18, 614874 (3)| | ||
7.9|12|10|12|7p22.3|SNX8|P|Sorting nexin 8||614905|REc|||| | ||
7.10|9|30|09|7p22.3|UNC84A, KIAA0810, SUN1|P|UNC84, C. elegans, homolog of, A||607723|R, REc|||| | ||
7.11|1|16|07|7p22.3|ZFAND2A, AIRAP|P|Zinc finger AN1 domain-containing protein 2A||610699|REc|||| | ||
7.12|9|28|11|7p22.3-p21.3|HYP10|P|Hypotrichosis 10||614238|Fd|between D7S1532 and D7S3047||Hypotrichosis 10 (2)| | ||
7.13|10|3|07|7p22.3|EIF3B, EIF3S9, PRT1|P|Eukaryotic translation initiation factor 3, subunit B||603917|REc|||| | ||
7.14|3|11|08|7p22.3-p22.2|GNA12|P|Guanine nucleotide-binding protein, alpha-12||604394|R, REc|||| | ||
7.15|6|9|08|7p13|TMED4|P|Transmembrane EMP24 protein transport domain-containing protein 4||612038|REc|||| | ||
7.16|9|18|12|7p22.1|AP5Z1, KIAA0415, SPG48|C|Adaptor-related protein complex 5, zeta-1 subunit||613653|R, REc|||Spastic paraplegia 48, autosomal recessive, 613647 (3)| | ||
7.17|9|30|09|7p22.1|CYTH3, PSCD3, ARNO3, GRP1|P|Cytohesin 3||605081|R, REc|||| | ||
7.18|9|8|11|7p22.1|DAGLB|P|Diacylglycerol lipase, beta||614016|REc|||| | ||
7.19|11|22|10|7p22.1|EIF2AK1, HRI|P|Eukaryotic translation initiation factor 2-alpha kinase 1||613635|REc|||| | ||
7.20|6|13|12|7p22.1|FBXL18, FBL18|P|F-box and leucine-rich repeat protein 18||609084|REc|||| | ||
7.21|4|19|12|7p22.1|MMD2, PAQR10|P|Monocyte-to-macrophage differentiation-associated protein 2||614581|REc|||| | ||
7.22|7|19|06|7p22.1|PAPOLB, TPAP|P|Poly(A) polymerase, beta||607436|REc|||| | ||
7.23|10|2|07|7p22.1|RADIL, KIAA1849|P|RAP GTPase interactor||611491|REc|||| | ||
7q11.1|1|9|14|7q11.23|GSAP, PION|P|Gamma-secretase-activating protein||613552|REc|||| | ||
7.1|2|4|13|7p22.1|SLC29A4, PMAT, ENT4|P|Solute carrier family 29 (monoamine transporter), member 4||609149|REc|||| | ||
7.2|10|4|05|7p22.1|STBMS1|P|Strabismus, susceptibility to, 1||185100|Fd|max lod at marker 1911/1912||{Strabismus, susceptibility to, 1} (2)| | ||
7.3|6|13|95|7p21.2|MEOX2|P|Mesenchyme homeo box 2||600535|A|||| | ||
7.4|5|24|13|7p22.1|AIMP2, JTV1|P|Aminoacyl tRNA synthetase complex-interacting multifunctional protein|2|600859|A|||| | ||
7.5|10|10|13|7p22.2|CARD11, CARMA1, BIMP3, PPBL, BENTA, IMD11|P|Caspase recruitment domain-containing protein 11||607210|R, REc|||Persistent polyclonal B-cell lymphocytosis, 606445 (3);|Immunodeficiency 11, 615206 (3) | ||
7.6|8|19|13|7p22.3|CHST12, C4ST2|P|Carbohydrate sulfotransferase 12||610129|R|||| | ||
7.7|9|8|11|7p22.1|ERVK-6|P|Endogenous retroviral group K, member 6||605626|A|||| | ||
7.8|8|18|02|7p22.1|FSCN1, SNL|P|Fascin homolog 1, actin-bundling protein|(singed, Drosophila, homolog-like)|602689|A|||| | ||
7.9|2|21|01|7p22|FHII|P|Hyperaldosteronism, familial, type II||605635|Fd|||Hyperaldosteronism, familial, type II (2)| | ||
7.10|6|11|02|7p22.3|FTSJ2, FJH1|P|FTSJ, E. coli, homolog of, 2||606906|R|||| | ||
7.11|1|1|12|7p21.3|GLCCI1, TSSN1, GCTR|P|Clucocorticoid-induced transcript 1||614283|REc|||{Glucocorticoid therapy, response to}, 614400 (3)| | |6(Glcci1)|
7.12|6|21|10|7p22.3|GPER, CMKRL2, GPR30|P|G protein-coupled estrogen receptor 1||601805|Psh|||| | ||
7.13|2|20|97|7p21.3|ICA1|P|Islet cell autoantigen 1, 69kD||147625|A|||| | |6(Ica1)|
7.14|12|30|05|7p22.3|LFNG, SCDO3|C|Lunatic fringe||602576|REa, R, A|||Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)| | |5(Lfng)|
7.15|8|29|01|7p22.3|MAD1L1, TXBP181|P|Mitotic arrest-deficient 1, yeast, homolog-like 1||602686|R|||Lymphoma, somatic (3); Prostate cancer, somatic, 176807 (3)| | |5(Mad1l1)|
7.16|7|10|95|7p21.2|ETV1|P|ETS variant gene-1||600541|Ch, A|fused with EWS in some Ewing sarcoma||| | ||
7.17|8|21|07|7p22.3|FAM20C, DMP4|C|Family with sequence similarity 20, member C||611061|R, REc, Ch|||Raine syndrome, 259775 (3)| | ||
7.18|8|9|99|7p22.3|MAFK, NFE2U|P|V-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein K|(nuclear factor erythroid 2, ubiquitous subunit)|600197|A|||| | |5(Nfe2u)|
7.19|6|8|95|7p22.3|NUDT1, MTH1|P|Nudix-type motif 1||600312|A|||| | ||
7.20|8|28|92|7p22.3|PDGFA|C|Platelet-derived growth factor, alpha polypeptide||173430|REa, A|||| | ||
7.21|11|19|11|7p22.1|PMS2, PMSL2, HNPCC4|C|Postmeiotic segregation increased, S. cerevisiae, 2, homolog of||600259|REa, A|||Mismatch repair cancer syndrome, 276300 (3); Colorectal cancer,|hereditary nonpolyposis, type 4, 614337 (3) | ||
7.22|7|23|13|7p22.1|RNF216, TRIAD3, ZIN, CAHH|P|RING finger protein 216||609948|REc|||Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3)| | ||
7.23|4|7|94|7p21.3|RPA3|P|Replication protein A3, 14kD||179837|REa, Psh, A|||| | ||
7.24|6|7|91|7p22.1|ZNF12|P|Zinc finger protein-12 (KOX3)||194536|REa, A|||| | ||
7.25|12|4|90|7p14.1|RALA|P|RAS-like protein A (Simian leukemia viral (v-ral) oncogene homolog|A, ras-related)|179550|REb, A|||| | |13(Ral)|
7.26|7|1|11|7p22-p14|CPVT3|P|Ventricular tachycardia, catecholaminergic polymorphic, 3||614021|Fd|between D7S526 and D7S481||Ventricular tachycardia, catecholaminergic polymorphic, 3 (2)| | ||
7.27|5|24|12|7p22.1|ACTB, BRWS1|C|Actin, beta||102630|REa, A|~20 pseudogenes also||Dystonia, juvenile-onset, 607371 (3); Baraitser-Winter syndrome 1,|243310 (3) | |5(Actb)|
7.28|11|28|01|7p21.1|AGR2, AG2|P|Anterior gradient 2, Xenopus, homolog of||606358|R, A|||| | ||
7.29|9|24|08|7p21.1|AGR3, BCMP11|P|Anterior gradient 3, Xenopus, homolog of||609482|REc|||| | ||
7.30|3|23|06|7p21.3|COL28A1|P|Collagen, type XXVIII, alpha-1 polypeptide||609996|REc|||| | |6(Col28a1)|
7.31|8|7|13|7p21.3|MIOS|P|Missing oocyte/meiosis regulator, Drosophila, homolog of||615359|REc|||| | ||
7.32|5|25|13|7p21.3|NDUFA4|P|NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 4||603833|REc|||| | ||
7.33|7|26|10|7p21.3|SCIN, KIAA1905|P|Scinderin||613416|R, REc|||| | ||
7.34|9|24|08|7p21.3|THSD7A, KIAA0960|P|Thrombospondin type-1 domain-containing protein 7A||612249|R, REc|||| | ||
7.35|7|27|10|7p21.3|TMEM106B|P|Transmembrane protein 106B||613413|REc|||| | ||
7.36|12|23|10|7p21.3-p15.1|SCA21|P|Spinocerebellar ataxia 21||607454|Fd|between D7S2464 and D7S516||Spinocerebellar ataxia 21 (2)| | ||
7.37|4|26|11|7p21.2|AGMO, TMEM195|P|Alkylglycerol monooxygenase||613738|REc|||| | ||
7.38|9|29|09|7p21.2|DGKB, DGK, KIAA0718|P|Diacylglycerol kinase, beta, 90kD||604070|R, REc|||| | ||
7.39|5|17|12|7p21.2|ISPD, MDDGA7|P|Isoprenoid synthase domain-containing protein||614631|REc|||Muscular dystrophy-dystroglycanopathy (congenital with brain and eye|anomalies), type A, 7, 614643 (3) | ||
7.40|10|30|07|7p21.1|PRPS1L1, PRPS3|P|Phospphoribosylpyrophosphate synthetase 1-like 1||611566|REa, R|||| | ||
7.41|12|28|08|7p21.1|SOSTDC1, ECTODIN, USAG1|P|Sclerostin domain-containing protein 1||609675|REc|||| | ||
7.42|7|8|10|7p21.2|FGQTL4|P|Fasting plasma glucose level QTL 4||613462|Fd|associated with rs2191349||[Fasting plasma glucose level QTL 4] (2)| | ||
7.43|3|11|09|7p21.1|MACC1|P|Metastasis-associated gene in colon cancer 1||612646|REc|||| | ||
7.44|4|18|05|7p21.1|SNX13, KIAA0713|P|Sorting nexin 13||606589|R, REc|||| | ||
7.45|12|21|09|7p21.1|TSPAN13, NET6|P|Tetraspanin 13||613139|REn|||| | ||
7.46|9|28|10|7p21.2-p14.3|EDSS2|P|Ectodermal dysplasia-syndactyly syndrome 2||613576|Fd|between D7S488 and D7S817||Ectodermal dysplasia-syndactyly syndrome 2 (2)| | ||
7.47|12|3|08|7p15.3|DNAH11, DNAHC11, CILD7, DNAHBL|C|Dynein, axonemal, heavy chain-11||603339|REa, REn|||Ciliary dyskinesia, primary, 7, with or without situs inversus,|611884 (3) | ||
7.48|1|24|09|7p15.3|IL6, IFNB2, BSF2, HSF, HGF|C|Interleukin-6 (interferon, beta-2)||147620|REa, A, Fd|||{Rheumatoid arthritis, systemic juvenile}, 604302 (3); {Kaposi|sarcoma, susceptibility to}, 148000 (3); {Diabetes, susceptibility to}, 222100, 125853 (3); {Intracranial hemorrhage in brain cerebrovascular malformations,|susceptibility to}, 108010 (3); {Crohn disease-associated growth failure}, 266600 (3)|5(Il6)|
7.49|12|8|03|7p21.1|SP8, BTD|P|Transcription factor Sp8||608306|REc|||| | ||
7.50|5|4|12|7p21.1|TWIST1, ACS3, SCS, CRS1|C|TWIST, Drosophila, homolog of, 1||601622|Fd, Ch, A, REa|||Saethre-Chotzen syndrome, 101400 (3); Saethre-Chotzen syndrome with|eyelid anomalies, 101400 (3); Craniosynostosis, type 1, 123100 (3); Robinow-Sorauf syndrome, 180750 (3)| |12(Twist)|Brueton (1992b)
7.51|12|4|03|7p21.1|TWISTNB|P|TWIST neighbor||608312|REc|pseudogene on 6q14.3||| | |12(Twistnb)|
7.52|3|5|98|7p14.3|CRHR2, CRFR2|P|Corticotropin releasing hormone receptor-2||602034|R, A|||| | |6(Crhr2)|
7.53|12|11|01|7p21.1|HDAC9, MITR, HDAC7B, KIAA0744|C|Histone deacetylase 9||606543|R, REc|||| | ||
7.54|4|7|94|7p21-p15|MDDC|P|Macular dystrophy, dominant cystoid||153880|Fd|?allelic to RP9||Macular dystrophy, dominant cystoid (2)| | ||
7.55|9|30|02|7p15.3|MPP6, VAM1, PALS2|P|Membrane protein, palmitoylated 6||606959|A|||| | |6(Pals2)|
7.56|9|20|00|7p15.2|SCAP2, SKAP55R|P|src family associated phosphoprotein 2||605215|REc|||| | ||
7.57|4|1|08|7q22.1|TSC22D4, THG1|P|TSC22 domain family, member 4||611914|REc|||| | ||
7.58|5|10|04|7p14.3|FAPP2|P|Phosphatidylinositol 4-phosphate adaptor protein 2||608639|REc|||| | ||
7.59|2|11|08|7p21.1|ABCB5|C|ATP-binding cassette, subfamily B, member 5||611785|REc|||| | ||
7.60|8|10|98|7p14.3|CHN2, ARHGAP3, RHOGAP3|P|Chimerin 2 (GTPase-activating protein, rho, 3)||602857|A|||| | ||
7.61|12|5|08|7p15.3|FAM126A, DRCTNNB1A, HLD5|P|Hyccin||610531|A|||Leukodystrophy, hypomyelinating, 5, 610532 (3)| | ||
7.62|9|28|05|7p15.2|HOXA1, HOX1F, BSAS|C|Homeo box-A1||142955|RE, A, Fd|||Bosley-Salih-Alorainy syndrome, 601536 (3); Athabaskan brainstem|dysgenesis syndrome, 601536 (3) | |6(Hox1.6)|
7.63|8|24|09|7p15.3|KLHL7, RP42|P|Kelch-like 7||611119|REc|||Retinitis pigmentosa 42, 612943 (3)| | ||
7.64|5|8|12|7p15.3|MALSU1, C7orf30|P|Mitochondrial assembly of ribosomal large subunit 1||614624|REc|||| | ||
7.65|9|30|09|7p15.3|STK31|P|Serine/threonine kinase 31||605790|R, REc|||| | ||
7.66|12|18|13|7p15.3|TOMM7|P|Translocase of outer mitochondrial membrane 7, yeast, homolog of||607980|REc|||| | ||
7.67|5|25|13|7p15.3|TRA2A|P|Transformer 2, Drosophila, homolog of||602718|REc|||| | ||
7.68|5|11|00|7p14.3|INMT|P|Indolethylamine N-methyltransferase||604854|REa, A|||| | ||
7.69|1|14|09|7p15.3|CYCS, CYC, THC4|C|Cytochrome C, somatic||123970|REc|||Thrombocytopenia 4, 612004 (3)| | ||
7.70|8|8|13|7p15.2|HIBADH|P|3-hydroxyisobutyrate dehydrogenase||608475|REc, R|||| | ||
7.71|7|1|11|7p15.2|HOTTIP, NCRNA00213|P|HOXA distal transcript antisense RNA||614060|REc|||| | ||
7.72|5|15|11|7p15.2|MIR148A, MIRN148A|P|Micro RNA 148A||613786|REc|||| | ||
7.73|2|21|13|7p15.2|SNX10, OPTB8|P|Sorting nexin 10||614780|REc|||Osteopetrosis, autosomal recessive 8, 615085 (3)| | ||
7.74|7|1|11|7p11.2|PSP, PSPHD|C|Phosphoserine phosphatase||172480|S, D|||Phosphoserine phosphatase deficiency, 614023 (3)| | |5(Psph)|
7.75|3|28|12|7p14.3|FKBP14, EDSKMH|P|FK506-binding protein 14||614505|REc|||Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy,|and hearing loss, 614557 (3) | ||
7.76|5|9|95|7p15.3|NPY|C|Neuropeptide Y||162640|REa, H, A|||| | |6(Npy)|
7.77|12|4|08|7p14.3|WIPF3, CR16|P|WAS/WASL-interacting protein family, member 3||612432|REc|||| | ||
7.78|6|10|08|7p14.3|ZNRF2|P|Zinc finger and ring finger protein 2||612061|REc|||| | ||
7.79|10|19|97|7p21.1|AHR|C|Aryl hydrocarbon receptor||600253|REa, A, Psh|||| | ||
7.80|12|28|08|7p15.3|CDCA7L, R1, JPO2|P|Cell division cycle-associated protein 7-like||609685|REc|||| | ||
7.81|11|30|06|7p15.3|DFNA5|C|DFNA5 gene||608798|Fd, REc, H|||Deafness, autosomal dominant 5, 600994 (3)| | |6(Dfna5)|
7.82|6|8|07|7p14.3|GARS, SMAD1, CMT2D, HMN5|C|Glycyl-tRNA synthetase||600287|A, Fd|||Charcot-Marie-Tooth disease, type 2D, 601472 (3); Neuropathy, distal|hereditary motor, type VA, 600794 (3) | ||
7.83|12|30|03|7p14.3|GSBS|P|G-substrate||604088|R|||{Hypercholesterolemia, susceptibility to}, 143890 (3)| | ||
7.84|10|7|13|7p15.2|HNRPA2B1, IBMPFD2|P|Heterogeneous nuclear ribonucleoprotein A2/B1||600124|A|mutation identified in 1 family||?Inclusion body myopathy with early-onset Paget disease with or|without frontotemporal dementia 2, 615422 (3) | ||
7.85|3|22|06|7p15.3|IGF2BP3, IMP3, KOC1, VICKZ3|P|Insulin-like growth factor 2 mRNA-binding protein 3||608259|A, H|||| | |6(Imp3)|
7.86|11|28|01|7p15.2-p15.1|JAZF1, TIP27|P|JAZF1 gene||606246|Ch|fused with JJAZ1||Endometrial stromal tumors (2)| | ||
7.87|8|21|91|7p15|MYCLK1|P|Avian myelocytomatosis viral (v-myc) oncogene homolog like 1||164865|A|||| | ||
7.88|3|2|10|7p15|MYP17, MYP4|P|Myopia 17||608367|Fd|previously assigned to 7q36 (MYP4)||Myopia 17 (2)| | ||
7.89|5|7|03|7p15.3|OSBPL3, ORP3, KIAA0704|C|Oxysterol-binding protein-like protein 3||606732|R, REc|||| | ||
7.90|6|13|95|7p15.3|SP4|P|Sp4 transcription factor||600540|Psh, A|||| | ||
7.91|5|5|09|7p15|STQTL17|P|Stature quantitative trait locus 17||612737|Fd|associated with rs1635852 and rs849140||{Stature QTL 17} (2)| | ||
7.92|9|30|09|7p15.2|TAX1BP1, TXBP151|P|TAX1-binding protein 1||605326|R, REc|||| | ||
7.93|12|20|05|7p14.3|CPVL, HVLP|P|Carboxypeptidase, vitellogenic-like||609780|REc|||| | ||
7.94|12|24|08|7p14.3|GGCT, GCTG, C7orf24|C|Gamma-glutamylcyclotransferase||137170|S, REc|||| | |6(Ggc)|
7.95|7|16|09|7p14.3|GHRHR, GHRFR, IGHD1B|C|Growth hormone releasing hormone receptor||139191|REa, A|||Growth hormone deficiency, isolated, type IB, 612781 (3)| | |6(Lit, Ghrhr)|
7.96|1|23|07|7p14.3|NOD1, CARD4|P|Nucleotide-binding oligomerization domain protein 1||605980|REc|||| | ||
7.97|7|11|11|7p14.1|TARP|P|T-cell antigen receptor, gamma subunit, alternate reading frame|protein|609642|REc|||| | ||
7.98|2|26|93|7p15.2|HOXA3, HOX1E|L|Homeo box-A3||142954|RE|homolog of Drosophila zen1, zen2||| | |6(Hox1.5)|
7.99|2|26|93|7p15.2|HOXA4, HOX1D|C|Homeo box-A4||142953|A, REa, H, RE|homolog of Drosophila Dfd||| | |6(Hox1.4)|
7.100|2|26|93|7p15.2|HOXA5, HOX1C|C|Homeo box-A5||142952|A, REa, H, RE|||| | |6(Hox1.3)|
7.101|2|26|93|7p15.2|HOXA6, HOX1B|C|Homeo box-A6||142951|A, REa, H, RE|||| | |6(Hox1.2)|
7.102|2|26|93|7p15.2|HOXA7, HOX1A|C|Homeo box-A7||142950|A, REa, H, RE|homolog of Drosophila Antp||| | |6(Hox1.1)|
7.103|2|26|93|7p15.2|HOXA9, HOX1G|C|Homeo box-A9||142956|RE, Ch|homolog of Drosophila Abd-B; fused to NUP98 in myeloid leukemia||| | |6(Hox1.7)|
7.104|2|26|93|7p15.2|HOXA10, HOX1H|C|Homeo box-A10||142957|A, REa, H, RE|||| | ||
7.105|11|30|00|7p15.2|HOXA11, HOX1I|C|Homeo box-A11||142958|A, REa, H, RE|||Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432|(3) | ||
7.106|3|3|03|7p15.2|HOXA11S|P|Homeo box A11, antisense||607530|REc|||| | |6(Hoxa11s)|
7.107|5|17|02|7p15.2|HOXA13, HOX1J|C|Homeo box-A13||142959|RE, Fd|||Hand-foot-uterus syndrome, 140000 (3); Guttmacher syndrome, 176305|(3) | |6(Hoxa13, Hd)|
7.108|3|23|09|7p15.2|MIR196B, MIRN196B|P|Micro RNA 196B||609688|REc|||| | ||
7.109|4|21|04|7p14.3|AAA1|P|Asthma-associated alternatively spliced gene 1||608596|REc|||| | ||
7.110|3|23|95|7p15.2|EVX1|P|Even-skipped homeo box-1 (homolog of Drosophila)||142996|REn|at 5' end of HOX1 cluster||| | ||
7.111|11|22|13|7p15.2|HOXA2, MCOHI|P|Homeobox A2||604685|REc|||?Microtia, hearing impairment, and cleft palate (AR), 612290 (3);|?Microtia with or without hearing impairment (AD), 612290 (3) | ||
7.112|10|08|07|7p14.3|NEUROD6, ATOH2, MATH2|P|Neurogenic differentiation 6||611513|REc|||| | ||
7.113|10|20|99|7p15.2|NFE2L3, NRF3|P|Nuclear factor erythroid 2-like 3||604135|A|||| | ||
7.114|5|21|09|7p14.3|NPSR1, GPR154, GPRA, VRR1, PGR14, ASRT2|P|Neuropeptide S receptor 1||608595|REc|||{Asthma, susceptibility to, 2}, 608584 (3)| | ||
7.115|11|19|13|7p14.3|NT5C3A, NT5C3, UMPH1, PSN1|P|5' nucleotidase, cytosolic IIIA|(uridine 5' monophosphate hydrolase 1)|606224|REc|pseudogenes on chr.4 and chr.7||Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)| | ||
7.116|8|29|07|7p14.2|TBX20, ASD4|C|T-box 20||606061|REc|||Atrial septal defect 4, 611363 (3)| | ||
7.117|7|8|10|7p15-p13|FGQTL2, BWQTL1|P|Fasting plasma glucose level QTL 2; Birth weight QTL 1||613219|Fd|associated with rs4607517||[Fasting plasma glucose level QTL 2] (2); [Birth weight QTL 1] (2)| | ||
7.118|4|24|06|7p13|GCK, HHF3|C|Glucokinase (hexokinase-4)||138079|Psh, Fd|proximal to TCRB||MODY, type II, 125851 (3); Diabetes mellitus, noninsulin-dependent,|late onset, 125853 (3); Diabetes mellitus, gestational, 125851 (3); Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3); Diabetes mellitus,|permanent neonatal, 606176 (3) ||Hattersley (1992); Stoffel (1992)
7.119|2|4|89|7p14.1|INHBA|P|Inhibin, beta-1||147290|REa|||| | |13(Inhba)|
7.120|8|17|09|7p14.3|AVL9, KIAA0241|P|AVL9, S. cerevisiae, homolog of||612927|R, REc|||| | ||
7.121|3|28|11|7p14.3|BMPER, CV2|P|BMP binding endothelial regulator||608699|REc|||Diaphanospondylodysostosis, 608022 (3)| | |9(Bmper)|
7.122|7|15|11|7p14.3-p14.2|DPY19L1, KIAA0877|P|DPY19-like 1||613892|REc|||| | |7p14.3|
7.123|9|30|09|7p14.3|LSM5|P|LSM5 protein||607285|R, REc|||| | ||
7.124|2|19|10|7p14.3|PDE1C, HCAM3|P|Phosphpdiesterase 1C||602987|REc|||| | ||
7.125|4|26|10|7p14.3|TRIL, KIAA0644|P|TLR4 interactor with leucine-rich repeats||613356|REc|||| | ||
7.126|12|17|12|7p14.3|SCRN1, SES1, KIAA0193|C|Secernin 1||614965|REc, R|||| | ||
7.127|11|8|02|7p14.3|RP9|C|Retinitis pigmentosa-9||607331|Fd, REc|||Retinitis pigmentosa 9, 180104 (3)| | ||
7.128|7|18|12|7p14.1|CDK13, CDC2L5, CHED|P|Cyclin-dependent kinase 13||603309|REc|||| | ||
7.129|6|13|12|7p14.1|GPR141, PGR13|P|G protein -coupled receptor 141||609045|REc|||| | |13(Gpr141)|
7.130|3|14|13|7p14.1|NME8, TXNDC3, SPTRX2, CILD6|P|NME/NM23 family member 8||607421|R|||Ciliary dyskinesia, primary, 6, 610852 (3)| | ||
7.131|10|15|13|7p14.1|TRGC1|C|T-cell receptor gamma chain constant region 1||186970|REa, A, Ch|||| | |13(Tcrg)|
7.132|10|15|13|7p14.1|TRGC2|P|T-cell receptor gamma chain constant region 2||615450|REc|||| | ||
7.133|10|15|13|7p14.1|TRGV@|P|T-cell receptor gamma chain variable gene cluster||615454|REc|||| | ||
7.134|10|15|13|7p14.1|TRGJ@|P|T-cell receptor gamma chain joining gene cluster||615455|REc|||| | ||
7.135|9|30|09|7p14.1|VPS41|P|Vacuolar protein sorting 41, Yeast, homolog of||605485|R, REc|conflicting assignment 14q23||| | ||
7.136|7|19|06|7p14.1-q11.22|DFNB44|P|Deafness, autosomal recessive 44||610154|Fd|max lod at D7S1818||Deafness, autosomal recessive 44 (2)| | ||
7.137|1|7|95|7p14.3|ADCYAP1R1, PACAPR|C|Adenylate cyclase activating polypeptide-1 (pituitary) receptor type 1||102981|Psh, A|||| | ||
7.138|10|26|99|7p14.3|AQP1, CHIP28, CO|C|Aquaporin-1 (channel-forming integral protein, 28kD)||107776|REa, A, Fd|||[Blood group, Colton], 110450 (3); [Aquaporin-1 deficiency] (3)| | |6(Aqp1)|
7.139|7|27|11|7p14.1|C7orf10|P|Chromosome 7 open reading frame 10||609187|A|||[Glutaric aciduria III], 231690 (3)| | ||
7.140|9|29|09|7p13|CAMK2B|P|Calcium/calmodulin-dependent protein kinase II-beta||607707|REc|||| | ||
7.141|9|30|09|7p14.2-p14.1|ELMO1, CED12|P|Engulfment and cell motility gene 1||606420|REc|||| | ||
7.142|12|29|06|7p14|HHT4|P|Telangiectasia, hereditary hemorrhagic, type 4||610655|Fd|between D7S2252 and D7S510||Telangiectasia, hereditary hemorrhagic, type 4 (2)| | ||
7.143|3|14|13|7p14.1|MPLKIP, C7orf11, ABHS, TTDN1|C|M-phase specific PLK1 interacting protein||609188|A|||Trichothiodystrophy, nonphotosensitive 1, 234050 (3)| | ||
7.144|2|28|08|7p14.1|MRPL32|P|Mitochondrial ribosomal protein L32||611839|R|||| | ||
7.145|4|24|08|7p13|MRPS24|P|Mitochondrial ribosomal protein S24||611986|R, REc|||| | ||
7.146|12|28|05|7p14.3|PTHB1, BBS9|C|Parathyroid hormone-responsive B1 gene||607968|REc, Fd|||Bardet-Biedl syndrome 9, 209900 (3)| | ||
7.147|10|1|07|7p14.2|SEPT7, CDC10|P|Septin 7||603151|REc|||| | ||
7.148|3|26|95|7p14.1|AMPH|P|Amphiphysin||600418|Psh, A|||| | |13(Amph)|
7.149|11|8|06|7p22.1|C1GALT1|P|Core 1 synthase, glycoprotein-N-acetylgalactosamine|3-beta-galactosyltransferase, 1|610555|REc|||| | ||
7.150|4|6|00|7p11.2|HPVC1, PE5L|P|Human papillomavirus E5 central sequence-like 1||600762|A|||| | ||
7.151|9|21|09|7p13|OGDH|C|Oxoglutarate dehydrogenase, lipoamide (alpha-ketoglutarate|dehydrogenase)|613022|REa, A|||Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)| | ||
7.152|12|7|04|7p14.1|POU6F2, WTSL, WT5|C|POU domain, class 6, transcription factor 2||609062|Ch, D, REc|||{Wilms tumor susceptibility-5}, 601583 (3)| | ||
7.153|1|7|02|7p14.1|SFRP4, FRPHE|L|Secreted frizzled-related protein 4||606570|H|||| | |13(Sfrp4)|
7.154|1|28|08|7p14.1|STARD3NL, MENTHO|P|STARD3 N-terminal like||611759|REc|||| | ||
7.155|10|13|94|7p14.2|AOAH|P|Acyloxyacyl hydrolase (neutrophil)||102593|A|||| | ||
7.156|2|9|92|7p12.3|IGFBP1|C|Insulin-like growth factor-binding protein-1||146730|REa, A, REn|||| | ||
7.157|2|9|92|7p12.3|IGFBP3|C|Insulin-like growth factor-binding protein-3||146732|REn|tail-to-tail 20kb from IGFBP1||| | ||
7.158|8|16|11|7p13|BLVRA|C|Biliverdin reductase A||109750|S, A|||Hyperbiliverdinemia, 614156 (3)| | |2(Blvr)|
7.159|2|10|04|7p13|C7orf22, CCM2, MGC4067|C|Malcavernin||607929|Fd, REc|||Cerebral cavernous malformations-2, 603284 (3)| | ||
7.160|8|21|12|7p13|COA1, C7orf44|P|Cytochrome c oxidase assembly factor 1, S. cerevisiae, homolog of||614769|REc|||| | ||
7.161|8|29|13|7p13|DBNL, HIP55|P|Drebrin-like||610106|REc, R|||| | ||
7.162|8|5|11|7p14.1|GLI3, PAPA, PAPB|C|GLI-Kruppel family member GLI3 (oncogene GLI3)||165240|REa, A, Fd|amplified in glioblastoma||Greig cephalopolysyndactyly syndrome, 175700 (3); Pallister-Hall|syndrome, 146510 (3); Polydactyly, preaxial, type IV, 174700 (3); Polydactyly, postaxial, types A1 and B, 174200 (3); {Hypothalamic hamartomas,|somatic}, 241800 (3) |13(Xt)|
7.163|8|19|13|7p14-p13|HECW1, NEDL1, KIAA0322|P|HECT, C2, and WW domains-containing E3 ubiquitin-protein ligase 1||610384|REc, R|||| | ||
7.164|9|8|11|7p13|MYL7, MYL2A, MLC2A, MYLC2A|P|Myosin, light chain 7, regulatory||613993|R, REc|||| | |11(Myl7)|
7.165|5|24|13|7p13|NUDCD3, KIAA1068, NUDCL|P|NUDC domain-containing protein 3||610296|REc, R|||| | ||
7.166|5|31|05|7p13|NPC1L1|C|NPC1-like 1||608010|REa, A|||[Ezetimibe, nonresponse to] (3)| | ||
7.167|9|30|09|7p13|POLD2|P|Polymerase (DNA directed), delta 2, regulatory subunit, 50kD||600815|Psh, REc|||| | ||
7.168|4|30|97|7p13|PPIA|C|Peptidylprolyl isomerase A (cyclophilin A)||123840|Psh, A|||| | ||
7.169|6|9|06|7p14.1|PSMA2, PSC2, HC3|P|Proteasome (prosome, macropain) subunit, alpha type, 2||176842|REc|incorrectly assigned to 6q||| | ||
7.170|9|16|12|7p13|PURB|P|Purine-rich element-binding protein B||608887|REc|||| | ||
7.171|2|23|08|7p12.3|SEPT13|P|Septin 13||611563|REc|||| | ||
7.172|10|2|12|7p13|STK17A, DRAK1|P|Serine/threonine protein kinase 17A||604726|REc|||| | ||
7.173|2|19|10|7p13|URGCP, URG4|P|Upregulator of cell proliferation||610337|REc|||| | ||
7.174|5|23|13|7p13|ZMIZ2, KIAA1886, ZIMP7|P|Zinc finger MIZ-domain containing 2||611196|REc|||| | ||
7.175|8|17|09|7p13|PGAM2, PGAMM, GSD10|C|Phosphoglycerate mutase, muscle form||612931|REa, A|||Glycogen storage disease X, 261670 (3)| | ||
7.176|9|19|94|7p12.3|ADCY1|C|Adenylate cyclase-1, brain||103072|A, REa|||| | |11(Adcy1, brl)|
7.177|6|16|99|7p12.3|HUS1|P|Hydroxyurea-sensitive 1, S. pombe, homolog of||603760|A, R|||| | ||
7.178|9|7|10|7p13|MYO1G, HA2|P|Myosin IG||613445|A|||| | ||
7.179|11|28|05|7p12.3|PKD1L1|P|Polycystin 1L1||609721|A|||| | |11(Pkd1l1)|
7.180|2|15|01|7p13|RAMP3|C|Receptor activity-modifying protein 3||605155|R|||| | |11(Ramp3)|
7.181|2|23|92|7p22.1|OCM|P|Oncomodulin||164795|REa|||| | |5(Ocm)|
7.182|12|28|08|7p12.3|ABCA13|P|ATP-binding cassette, subfamily A, member 13||607807|REc, H|||| | |11(Abca13)|
7.183|1|2|08|7p12.3|TNS3, TEM6|P|Tensin 3||606825|R, REc|||| | ||
7.184|1|23|08|7p12.3|UPP1, UP|C|Uridine phosphorylase 1||191730|S, REc|||| | ||
7.185|12|28|05|7p11.2|EGFR|C|Epidermal growth factor receptor||131550|S, Fd, D, REa|same as oncogene ERBB||Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in,|211980 (3); Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3); {Nonsmall cell lung cancer, susceptibility to}, 211980 (3)| |11(Erbb)|
7.186|10|13|09|7p12.2|ALL2|P|Leukemia, acute lymphoblastic, susceptibility to, 2||613067|Fd|associated with rs11978267||{Leukemia, acute lymphoblastic, susceptibility to, 2} (2)| | ||
7.187|6|13|07|7p12.2|VWC2, BRORIN|P|von Willebrand factor C domain-containing protein 2||611108|REc|||| | ||
7.188|8|8|13|7p12.2|ZPBP, SP38|P|Zona pellucida-binding protein||608498|REc|||| | ||
7.189|9|9|13|7p12.1|FIGNL1|P|Fidgetin-like protein 1||615383|REc|||| | ||
7.190|6|7|12|7p12.1-q21|CMH21|P|Cardiomyopathy, familial hypertrophic, 21||614676|Fd|max lod at D7S669||Cardiomyopathy, familial hypertrophic, 21 (2)| | ||
7.191|8|19|13|7p12.1|COBL, KIAA0633|P|Cordon-bleu, mouse, homolog of||610317|REc|||| | |11(Cobl)|
7.192|12|15|98|7p11.2|GBAS, NIPSNAP2|P|Glioblastoma amplified sequence||603004|R|||| | ||
7.193|9|10|07|7p12.2|IKZF1, ZNFN1A1, IK1, LYF1|P|Ikaros family zinc finger 1||603023|REa, Ch|fused with BCL6 in DLBL||Leukemia, acute lymphoblastic (3)| | |11(Ikaros)|
7.194|1|7|02|7p12.1|GRB10, RSS|C|Growth factor receptor-bound protein-10||601523|REa, R, A|||| | |11(Grb1)|11/28/01 mod RSS to ?RSS
7.195|7|11|93|7p12-cen|TTIM1|C|T-cell tumor invasion and metastasis-1 (invasion-metastasis of|neoplasms, chromosome 7 determined)|147830|S|||| | ||
7.196|10|12|90|7p11.2|PHKG1|P|Phosphorylase kinase, gamma 1, muscle||172470|REa, A|presumed pseudogene on 11||| | |5(Phkg)|
7.197|8|8|13|7p11.2|CCT6A, CCT6, HTR3, TCP20|P|Chaperonin containing T-complex polypeptide 1, subunit 6A||104613|REc|||| | ||
7.198|7|22|09|7p11.2|LANCL2, TASP|P|LanC-like 2||612919|REc|||| | ||
7.199|10|6|08|7p11.2|NYS3|P|Nystagmus 3, congenital, autosomal dominant||608345|Ch|translocation t(7;15)(p11.2;q11.2)||Nystagmus 3, congenital (2)| | ||
7.200|7|10|08|7p11.2|SEPT14|P|Septin 14||612140|Psh, REc|||| | ||
7.201|5|27|09|7p11.2|SRS, RSS|C|Silver-Russell syndrome||180860|Ch|maternal uniparental disomy of chromosome 7||Silver-Russell syndrome (4)| | ||
7.202|5|24|13|7p11.2|VOPP1, ECOP, GASP|P|Vesicular, overexpressed in cancer, prosurvival protein 1||611915|REc|||| | ||
7.203|8|25|04|7p12.1|DDC|C|DOPA decarboxylase (aromatic L-amino acid decarboxylase)||107930|REa, A|||Aromatic L-amino acid decarboxylase deficiency, 608643 (3)| | ||
7.204|12|4|03|7q11.21|ASL|C|Argininosuccinate lyase||608310|S, REa, A|||Argininosuccinic aciduria, 207900 (3)| | |5(Asl)|
7.205|7|8|99|7q11.23|MDH2|C|Malate dehydrogenase, mitochondrial||154100|S|||| | |5(Mor1)|
7.206|2|1|01|7p21.3|ARL4|L|ADP-ribosylation factor-like 4||604786|H|||| | |12(Arl4)|
7.207|10|25|11|7q|MLSM7, DEL7q, C7DELq|P|Monosomy 7 of bone marrow||252270|Ch|||Myelodysplasia and leukemia syndrome with monosomy 7 (4)| | ||
7.208|8|11|91|7q|HRX|P|Hyperreflexia||145290|F|linked to KEL||| | ||
7.209|12|1|98|7q11.23|CLDN3, CPETR2|P|Claudin-3 (Clostridium perfringens enterotoxin receptor 2)||602910|REa, R|||| | ||
7.210|1|2|03|7q11.21|SBDS, SDS|C|SBDS gene||607444|Fd, REc|||Shwachman-Bodian-Diamond syndrome, 260400 (3)| | ||
7.211|2|28|01|7q11.23|BAZ1B, WSTF, WBSCR9|P|Bromodomain adjacent to zinc finger domain, 1B||605681|REa|||| | ||
7.212|7|28|11|7q11-q21|PCH3, CLAM|P|Pontocerebellar hypoplasia, type 3||608027|Fd|max lod near D7S669 and D7S2204||Pontocerebellar hypoplasia, type 3 (2)| | ||
7.213|4|23|08|7p11.2|MRPS17|C|Mitochondrial ribosomal protein S17||611980|R, REc|9 pseudogenes||| | ||
7.214|8|16|06|7p11-q21|HPC4|P|Prostate cancer, hereditary, 4||608658|Fd|||{Prostate cancer, susceptibility to, 4}, 176807 (2)| | ||
7.215|10|19|01|7q11.2|ANIB1|C|Aneurysm, intracranial berry, 1||105800|Fd|in or near ELN||Aneurysm, intracranial berry, 1 (2)| | ||
7.216|2|28|08|7q22.1|ARMC10, SVH|P|Armadillo repeat-containing 10||611864|REc|||| | ||
7.217|5|16|07|7q11.22|KIAA0442|P|KIAA0442 gene||607270|A, Ch|translocation break at 7q11.2||| | ||
7.218|7|16|09|7q11.23|CCL26, SCYA26|P|Chemokine, C-C motif, ligand 26||604697|A|||| | ||
7.219|9|15|11|7q21.11|CD36, CHDS7, BDPLT10|C|CD36 antigen (collagen type I)||173510|A|||[Macrothrombocytopenia] (1); Platelet glycoprotein IV deficiency,|608404 (3); {Malaria, cerebral, susceptibility to}, 611162 (3); {Malaria, cerebral, reduced risk of}, 611162 (3); {Coronary heart disease, susceptibility|to, 7}, 610938 (3) ||
7.220|9|12|06|7q11.23|ELN|C|Elastin||130160|REa, A, F, Fd|||Supravalvar aortic stenosis, 185500 (3); Cutis laxa, AD, 123700 (3)| | |5(Eln)|
7.221|7|8|10|7q11.2|EOE1, EE|P|Esophagitis, eosinophilic, 1||610247|Fd|associated with rs2302009||{Esophagitis, eosinophilic, 1} (2)| | ||
7.222|2|1|01|7q11.21|ERV3|C|Endogenous retroviral sequence-3 (includes zinc finger protein H-plk)||131170|REa, R|||| | ||
7.223|9|30|09|7q11.23|FGL2|P|Fibrinogen-like 2||605351|R, REc|||| | ||
7.224|3|22|06|7q22.1|POLR2J2, RPB11|P|RNA polymerase II polypeptide J-related gene||609881|REc|||| | ||
7.225|3|22|00|7q11.23|POMZP3|P|POM121/ZP3 fusion protein||600587|A|||| | ||
7.226|1|27|11|7q11.23|POR|C|Cytochrome P450 oxidoreductase||124015|REa, A|||Antley-Bixler syndrome with genital anomalies and disordered|steroidogenesis, 201750 (3); Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)| ||
7.227|10|22|99|7p11.2|PSPHL, CO9|P|Phosphoserine phosphatase-like||604239|TM|||| | ||
7.228|6|16|99|7q11.23|STX1A, STX1|P|Syntaxin 1A, brain||186590|A, Psh|||| | ||
7.229|6|6|00|7q11.21|ZNF107|P|Zinc finger protein-107||603989|A|||| | ||
7.230|9|12|93|7q11.21|ZNF117|P|Zinc finger protein-117||194624|A|||| | ||
7.231|2|20|03|7q21.2|CCM1, CAM, KRIT1|C|KREV interaction trapped 1||604214|Fd, A|||Cerebral cavernous malformations-1, 116860 (3); Hyperkeratotic|cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3); Cavernous malformations of CNS and retina, 116860|(3) ||
7.232|10|6|92|7q11.2-q21.3|EEC1|L|Ectrodactyly, ectodermal dysplasia, cleft lip/palate, 1||129900|Ch|||?EEC syndrome-1 (2)| | ||
7.233|8|20|12|7q11.21|KCTD7, EPM3, CLN14|P|Potassium channel tetramerization domain containing 7||611725|REc, Fd|||Epilepsy, progressive myoclonic 3, with or without intracellular|inclusions, 611726 (3) | ||
7.234|12|28|08|7q11.21|RABGEF1, RABEX5|P|RAB guanine nucleotide exchange factor 1||609700|R, REc|||| | ||
7.235|9|30|09|7q11.21|TPST1|P|Tyrosylprotein sulfotransferase 1||603125|REc|||| | ||
7.236|5|26|13|7q11.21|TYW1|P|tRNA-wybutosine-synthesizing protein 1, S. cerevisiae, homolog of||611243|REc, R|||| | ||
7.237|9|16|12|7q11.21|VKORC1L1|P|Vitamin K epoxide reductase complex, subunit 1-like 1||608838|REc|||| | ||
7.238|2|1|11|7q11.21|ZNF92|P|Zinc finger protein-92||603974|REa, A, REc|sequence aligns with sequence on 19p13.1-p12||| | ||
7.239|2|2|01|7q11.21|ZNF138|P|Zinc finger protein-138||604080|A, REa|||| | ||
7.240|4|6|13|7q11.22|WBSCR17, GALNTL3, GALNACT17|P|Williams-Beuren syndrome chromosome region 17||615137|REc|||| | ||
7.241|4|17|01|7q11.23|BCL7B|P|B-cell CLL/lymphoma 7B||605846|REc|||| | ||
7.242|8|29|02|7q11.23|CCL24, SCYA24, MPIF2|C|Chemokine, C-C motif, ligand 24||602495|Psh, REc, R|||| | ||
7.243|10|4|05|7q11.23|CLDN4, CPETR1, CPER|P|Claudin 4||602909|Psh, H|||| | |5(Cldn4)|
7.244|2|11|09|7q11.23|CLIP2, CYLN2, WBSCR4, WSCR4|P|CAP-GLY domain-containing linker protein 2||603432|A, H|?neurodevelopmental defect of Williams syndrome||| | |5(Cyln2)|
7.245|2|22|11|7q11.23|DEL7q11.23, C7DELq11.23|P|Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb||613729|Ch|contiguous gene deletion syndrome||Chromosome 7q11.23 deletion syndrome, distal, 1.2Mb (4)| | ||
7.246|12|21|09|7q11.23|DTX2, KIAA1528|P|Deltex, Drosophila, homolog of, 2||613141|R, REc|||| | ||
7.247|1|15|09|7q11.23|DUP7q11.23, C7DUPq11.23|P|Chromosome 7q11.23 duplication syndrome||609757|Ch|||Chromosome 7q11.23 duplication syndrome (4)| | ||
7.248|2|12|09|7q11.23|EIF4H, WBSCR1, WSCR1|P|Eukaryotic translation initiation factor 4H||603431|REc|||| | ||
7.249|5|11|00|7q11.23|FKBP6|P|FK506-binding protein 6||604839|REc|||| | ||
7.250|8|28|97|7q11.23|FZD9, FZD3|P|Frizzled, Drosophila, homolog of, 9||601766|REn|||| | ||
7.251|9|12|06|7q11.23|GTF2I, BAP135, WBS|P|General transcription factor II-I (BTK-associated protein, 135kD)||601679|D|||| | ||
7.252|9|12|06|7q11.23|GTF2IRD1, GTF3, MUSTRD1, WBS|P|GTF21 repeat domain-containing protein 1||604318|REc|||| | ||
7.253|2|28|03|7q11.23|HIP1|C|Huntingtin interacting protein-1||601767|A, R|||{Prostate cancer, progression of}, 176807 (1)| | |5(Hip1)|
7.254|6|8|07|7q11.23|HSPB1, HSP27, CMT2F, HMN2B|C|Heat-shock 27kD protein-1||602195|REa, H, REc, Fd|||Neuropathy, distal hereditary motor, type IIB, 608634 (3);|Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3) | |5(Hsp105)|
7.255|2|12|09|7q11.23|LAT2, WBSCR5, LAB, NTAL|P|Linker for activation of T cells family, member 2||605719|REc|||| | |5(Wbscr5)|
7.256|9|3|96|7q11.23|LIMK1|C|LIM domain kinase 1||601329|REn, Ch, A|||| | |5(Limk1)|
7.257|3|17|08|7q11.23|MLXIPL, WBSCR14, MONDOB, CHREBP|C|MLX interacting protein-like||605678|REn|||| | ||
7.258|2|12|13|7q11.23|MIR590|P|Micro RNA 590||615070|REc|||| | ||
7.259|10|12|90|7q11.23|NCF1|P|Neutrophil cytosolic factor-1, 47kD||608512|REa, A|||Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)| | ||
7.260|1|27|11|7q11.23|PION, GSAP|P|Pigeon, Drosophila, homolog of||613552|REc|||| | ||
7.261|12|5|13|7q11.23|PTPN12, PTPG1|P|Protein tyrosine phosphatase, nonreceptor-type, 12||600079|A|||Colon cancer, somatic, 114500 (3)| | |5(Ptpn12)|
7.262|3|6|95|7q11.23|RFC2|P|Replication factor C2, 40kD (activator 1, 40kD)||600404|Psh, A|||| | ||
7.263|5|6|13|7q11.23|RHBDD2|P|Rhomboid domain-containing protein 2||615203|REc|||| | ||
7.264|3|19|03|7q11.23|SRCRB4D|P|Protein with 4 group B scavenger receptor cysteine-rich domains||607639|REc, R|||| | ||
7.265|4|17|01|7q11.23|TBL2|P|Transducin-beta-like 2||605842|H, R|||| | |5(Tbl2)|
7.266|1|24|09|7q11.23|TRIM50, TRIM50A|P|Tripartite motif-containing protein 50||612548|REc, H|||| | |5(Trim50)|
7.267|1|24|09|7q11.23|TRIM73, TRIM50B|P|Tripartite motif-containing protein 73||612549|REc|||| | ||
7.268|1|24|09|7q11.23|TRIM74, TRIM50C|P|Tripartite motif-containing protein 74||612550|REc|||| | ||
7.269|3|11|08|7q11.23|UPK3B, UPIIIB, P35|P|Uroplakin 3B||611887|REn|||| | ||
7.270|6|9|06|7q11.23|VPS37D, WBSCR24|P|Vacuolar protein sorting 37, yeast, homolog of, D||610039|REc|||| | ||
7.271|1|13|09|7q11.23|WBS, WMS, WS, DEL7q11, C7DELq11|C|Williams-Beuren syndrome (chromosome 7q11.23 deletion syndrome)||194050|Ch|contiguous gene syndrome||Williams-Beuren syndrome (4)| | ||
7.272|1|24|09|7q11.23|WBSCR26|P|Williams-Beuren syndrome chromosome region 26||612545|REc, H|||| | |5(Wbscr26)|
7.273|1|24|09|7q11.23|WBSCR27|P|Williams-Beuren syndrome chromosome region 27||612546|REc, H|||| | |5(Wbscr27)|
7.274|1|24|09|7q11.23|WBSCR28|P|Williams-Beuren syndrome chromosome region 28||612547|REc, H|||| | |5(Wbscr28)|
7.275|1|8|01|7q11.23|YWHAG|P|Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation|protein, gamma isoform|605356|A, R|||| | ||
7.276|9|25|02|7q11.23|ZP3, ZP3A, ZP3B|C|Zona pellucida glycoprotein-3 (sperm receptor)||182889|REa, A|||| | |5(Zp3)|
7.277|5|12|00|7q21.11|PCLO|P|Piccolo, mouse, homolog of||604918|R, REc|||| | ||
7.278|7|22|02|7q31.1|PPP1R3A, PPP1R3|P|Protein phosphatase 1, regulatory subunit 3A||600917|R|||Insulin resistance, severe, digenic, 604367 (3)| | ||
7.279|7|1|02|7q21.12|ADAM22|P|A disintegrin and metalloproteinase domain 22||603709|R|||| | ||
7.280|10|11|01|7q21.11|AIP1, KIAA0705|P|Atrophin 1-interacting protein 1||606382|R|||| | ||
7.281|1|2|08|7q21.3|CASD1, C7orf12|P|CAS1 domain-containing protein 1||611686|REc|||| | ||
7.282|8|19|13|7q21.13|CLKDN12|P|Claudin 12||611232|REc|||| | ||
7.283|2|18|09|7q22.1|EPO, MVCD2|C|Erythropoietin||133170|REa, A, REb, Fd|close to COL1A2; no recombination||{Microvascular complications of diabetes 2}, 612623 (3)| | |5(Epo)|
7.284|1|12|99|7q21.13|FZD1|P|Frizzled, Drosophila, homolog of, 1||603408|A|||| | ||
7.285|6|1|88|7q21.11|GNAI1|C|Guanine nucleotide-binding protein (G protein), alpha-inhibiting|activity polypeptide-1|139310|REa, A|||| | |5(Gnai1)|
7.286|2|10|00|7q22.1|GNB2|C|Guanine nucleotide-binding protein, beta polypeptide-2||139390|REa, REn|30-70kb from EPO||| | |5(Gnb2)|
7.287|1|27|11|7q21|MAGI2IT, PR47|P|MAGI2 intronic transcript||608950|REc|||| | ||
7.288|12|22|05|7q21.3|PEG10, KIAA1051|C|Paternally expressed gene 10||609810|R, REc|||| | |6(Peg10)|
7.289|10|30|06|7q21.2|SAMD9, NFTC|C|Sterile alpha motif domain-containing protein 9||610456|REn|||Tumoral calcinosis, familial, normophosphatemic, 610455 (3)| | ||
7.290|9|9|03|7q21.3|SGCE, DYT11|C|Sarcoglycan, epsilon||604149|R, H, Fd|pseudogene on 2q21; maternally imprinted||Dystonia-11, myoclonic, 159900 (3)| | |6(Sgce)|
7.291|1|31|00|7q21.13|STEAP|P|Six-transmembrane epithelial antigen of the prostate||604415|R|||| | ||
7.292|1|2|03|7q21.13|STEAP2, STAMP1, IPCA1, PCANAP1|P|Six-transmembrane epithelial antigen of prostate 2||605094|REc|||| | ||
7.293|8|22|07|7q21.12|STEAP4, STAMP2, TIARP|P|Six-transmembrane epithelial antigen of prostate 4||611098|REc|||| | ||
7.294|2|17|09|7q21|STQTL11|P|Stature quantitative trait locus 11||612223|Fd|associated with rs2282978||{Stature QTL 11} (2)| | ||
7.295|2|26|08|7q21.2|AKAP9, YOTIAO, AKAP450|P|A-kinase anchor protein 9||604001|REc|||Long QT syndrome-11, 611820 (3)| | ||
7.296|3|15|10|7q22.1|ARPC1A, SOP2L|P|Actin-related protein 2/3 complex, subunit 1A||604220|REc|||| | ||
7.297|3|15|10|7q22.1|ARPC1B, ARC41|P|Actin-related protein 2/3 complex, subunit 1B||604223|REc|||| | ||
7.298|7|17|01|7q21.3|ASB4|P|Ankyrin repeat-containing SOCS box protein 4||605761|REc|||| | |6(Asb4)|
7.299|8|5|97|7q21.11|CACNA2, CACNL2A|C|Calcium channel, voltage-dependent, L type, alpha2/delta subunit||114204|Psh, Fd, A|||| | ||
7.300|6|6|00|7q22.1|CPSF4, CPSF30, NEB1|P|Cleavage-polyadenylation specificity factor 4, 30kD||603052|R|||| | ||
7.301|2|17|09|7q21.2|CDK6, PLSTIRE|C|Cyclin-dependent kinase 6||603368|R, REc, Psh|||| | ||
7.302|9|28|00|7q21.2|ERVWE1, HERVW|P|Endogenous retroviral family W, env(C7), member 1 (syncytin)||604659|REc|||| | ||
7.303|8|5|97|7q21-q22|MHS3|P|Malignant hyperthermia susceptibility 3||154276|Fd|?mutation in CACNA2||{Malignant hyperthermia susceptibility 3} (2)| | ||
7.304|10|25|12|7q21.2|PEX1, ZWS1, PBD1A, PBD1B|C|Peroxisome biogenesis factor-1||602136|Ch, REc|||Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3);|Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3) | ||Gartner (1992)
7.305|8|9|99|7q21.3|TAC1, TAC2, NKNA|C|Tachykinin 1 (substance K; neurokinin A; neurokinin 2; neuromedin L;|neuropeptide gamma; tachykinin 2)|162320|REa, A, H|||| | |6(Nkna)|
7.306|9|28|96|7q22.1|ZNF36, KOX18|P|Zinc finger protein-36 (KOX 18)||601260|A, REc|||| | ||
7.307|9|28|96|7q22.1|ZNF38, KOX25|P|Zinc finger protein-38 (KOX 25)||601261|A, REc|||| | ||
7.308|12|24|13|7q21.3|ASNS, ASNSD|C|Asparagine synthetase||108370|S, REa, A|temperature sensitive G1 mutant||Asparagine synthetase deficiency, 615574 (3)| | ||
7.309|12|7|12|7q21.12|ABCB4, PGY3, MDR3, ICP3|C|ATP-binding cassette, subfamily B, member 4|(P-glycoprotein-3/multiple drug resistance-3)|171060|RE|within 500kb of MDR1||Cholestasis, progressive familial intrahepatic 3, 602347 (3);|Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3); Gallbladder disease 1, 600803 (3)| ||
7.310|5|4|12|7q21.12|ABCB1, PGY1, MDR1, IBD13, CLCs|C|ATP-binding cassette, subfamily B, member 1|(P-glycoprotein-1/multiple drug resistance-1)|171050|REa, A, REb|||{Colchicine resistance}, 120080 (3); {Inflammatory bowel disease 13},|612244 (3) | |5(Pgy1)|
7.311|7|11|01|7q21.12|CROT, COT|P|Carnitine octanoyltransferase||606090|REc|||| | ||
7.312|8|24|09|7q21.11|HGF, DFNB39|C|Hepatic growth factor||142409|REb, A, REa|||Deafness, autosomal recessive 39, 608265 (3)| | ||
7.313|6|4|89|7q21.12|SRI, SCN|P|Sorcin (class 4 gene)||182520|REa, H|||| | ||
7.314|6|4|98|7q21.11-q21.12|GRM3|P|Glutamate receptor, metabotropic-3||601115|A|||| | ||
7.315|1|30|01|7q22.1|SMURF1|P|SMAD ubiquitination regulatory factor 1||605568|REc|||| | ||
7.316|8|21|91|7q11.21|GUSB, MPS7|C|Glucuronidase, beta-||611499|S, D, EM|||Mucopolysaccharidosis VII, 253220 (3)| | |5(Gus)|
7.317|6|11|13|7q21.11|SEMA3A, SEMAD, COLL1, HH16|P|Semaphorin 3A||603961|REc, R|||{Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897|(3) | ||
7.318|8|8|13|7q21.12|DMTF1, DMP1|P|Cyclin D-binding MYB-like transcription factor 1||608491|REc|||| | ||
7.319|3|6|08|7q21.11|SEMA3E, SEMAH, KIAA0331|P|Semaphorin 3E||608166|R, REc|||CHARGE syndrome, 214800 (3)| | ||
7.320|9|8|11|7q21.12|KIAA1324L, EIG121L|P|KIAA1324-like gene||614048|REc|||| | ||
7.321|3|12|07|7q21.12|SLC25A40|P|Solute carrier family 25, member 40||610821|REc|||| | |5(Slc25a40)|
7.322|4|17|13|7q21.13|CDK14, PFTK1, PFTAIRE1, KIAA0834|P|Cyclin-dependent kinase 14||610679|R|||| | ||
7.323|4|18|07|7q21.13|GTPBP10, OBGH2|P|GTP-binding protein 10||610920|R, REc|||| | ||
7.324|6|5|12|7q21.2|GATAD1, ODAG, CMD2B|P|GATA zinc finger domain-containing protein 1||614518|REc|||Cardiomyopathy, dilated, 2B, 614672 (3)| | ||
7.325|10|7|13|7q21.2|MTERF|P|Transcription termination factor, mitochondrial||602318|REc|||| | ||
7.326|5|14|09|7q21.2|SAMD9L|P|Sterile alpha motif domain-containing 9-like||611170|REc|||| | ||
7.327|3|5|03|7q21.2|CYP51A1, CYP51|P|Cytochrome P450, family 51, subfamily A, polypeptide 1|(lanosterol 14-alpha-demethylase)|601637|Psh, REc|||| | ||
7.328|9|8|11|7q21.3|HEPACAM2, MIKI|P|Hepacam family member 2||614133|REc|||| | ||
7.329|4|21|11|7q21.2-q21.3|SHFM1, SHFD1, SHSF1|C|Split hand/foot malformation (ectrodactyly) type 1||183600|Ch|contiguous gene deletion syndrome||Split hand/foot malformation 1 (4)| | ||Del Porto (1983); Roberts (1991)
7.330|9|4|98|7q22.1|TRRAP|P|Transformation/transcription domain-associated protein||603015|R|||| | ||
7.331|11|22|99|7q21.12|ASK, DBF4|P|Activator of S-phase kinase||604281|A|||| | |5(Dbf4)|
7.332|3|16|99|7q21.3|CALCR, CRT|C|Calcitonin receptor||114131|A, Psh|not deleted in Williams syndrome||{Osteoporosis, postmenopausal, susceptibility}, 166710 (3)| | |6(Calcr)|
7.333|5|25|13|7q21.3|GNG11|P|Guanine nucleotide-binding protein, gamma 11||604390|REc|||| | ||
7.334|6|16|99|7q21.3|GNGT1|P|Guanine nucleotide-binding protein, gamma-transducing activity|polypeptide 1|189970|Psh, REc|||| | ||
7.335|3|30|12|7q21.3|MIR489|P|Micro RNA 489||614523|REc|in intron 4 of CALCR||| | ||
7.336|7|8|10|7q21.3|PON1, PON, ESA, MVCD5|C|Paraoxonase-1||168820|F, Fd, REc|||{Coronary artery disease, susceptibility to} (3); {Coronary artery|spasm 2, susceptibility to (3); {Organophosphate poisoning, sensitivity to} (3); {Microvascular complications of diabetes 5}, 612633 (3)| |6(Pon1)|
7.337|9|9|98|7q21.3|PON2|C|Paraoxonase-2||602447|REc|||{Coronary artery disease, susceptibility to} (3)| | ||
7.338|9|9|98|7q21.3|PON3|C|Paraoxonase-3||602720|REc|||| | ||
7.339|10|20|04|7q21.3|PPP1R9A, NRBI, NRB1, KIAA1222|P|Protein phosphatase 1, regulatory subunit 9A|(neurabin I)|602468|R, REc|||| | ||
7.340|8|20|02|7q21.3|SLC25A13, CTLN2|P|Solute carrier family 25 (mitochondrial carrier, citrin), member 13||603859|Fd, LD|||Citrullinemia, adult-onset type II, 603471 (3); Citrullinemia,|type II, neonatal-onset, 605814 (3) | ||
7.341|8|31|12|7q21.3|TECPR1, KIAA1358|P|Tectonin beta-propeller repeat-containing 1||614781|R, REc|||| | ||
7.342|1|7|95|7q22.1|PCOLCE|C|Procollagen C-endopeptidase enhancer||600270|REa, A|||| | |5(Pcolce)|
7.343|4|13|10|7q22.1|PAI1, PLANH1, SERPINE1|C|Plasminogen activator inhibitor, type I||173360|REa, REb, Fd, A, D|||Plasminogen activator inhibitor-1 deficiency, 613329 (3);|{Transcription of plasminogen activator inhibitor, modulator of} (3) | ||
7.344|8|28|01|7q11.21|RCP|P|Calcitonin gene-related peptide receptor component protein||606121|REc|||| | ||
7.345|3|5|08|7q21.3-q22.1|BAIAP2L1, IRTKS|P|BAI1-associated protein 2-like 1||611877|REc|||| | ||
7.346|6|16|99|7q21.3|DNCI1|P|Dynein, cytoplasmic, intermediate chain 1||603772|REc|||| | |6(Dnci1)|
7.347|9|23|97|7q21.3|DSS1|P|Deleted in split-hand/split-foot 1 region||601285|D|?gene mutant in SHFM1||| | ||
7.348|5|22|07|7q21.3|LMTK2, KPI2, BREK, KIAA1079|C|Lemur tyrosine kinase 2||610989|R, REc|||| | ||
7.349|8|18|97|7q22.1|MCM7, MCM2|P|Minichromosome maintenance deficient, S. cerevisiae, homolog of, 7||600592|A|||| | ||
7.350|9|20|95|7q22.1|NPTX2|P|Pentraxin II||600750|A|||| | ||
7.351|11|4|98|7q21.3|PDK4|P|Pyruvate dehydrogenase kinase, isoenzyme 4||602527|REc|||| | ||
7.352|8|28|92|7q22.1|ACHE, YT|C|Acetylcholinesterase (YT blood group)||100740|Psh, A, Fd, REb|blood group YT (112100) = epitope of ACHE||[Blood group, Yt system], 112100 (3)| | |5(Ache)|
7.353|12|24|08|7q22.1|ACTL6B, BAF53B|P|Actin-like 6B||612458|REc|||| | ||
7.354|1|31|01|7q22.1|APS|P|Adaptor protein containing PH and SH2 domains||605300|REc|||| | ||
7.355|5|16|07|7q22|AUTS1|C|Autism, susceptibility to, 1||209850|Fd|||{Autism susceptibility 1} (2)| | ||
7.356|3|22|93|7q22.1|CUTL1, CDP|P|Cut, Drosophila, homolog of (CCAAT displacement protein)||116896|REa|||| | ||
7.357|2|16|12|7q21.3|DLX5, SHFM1D|C|Distal-less homeo box-5||600028|REa, A, D|mutation identified in 1 family||?Split-hand/foot malformation 1 with sensorineural hearing loss,|220600 (3) | |6(Dlx5)|
7.358|1|8|95|7q21.3|DLX6|P|Distal-less homeo box-6||600030|REa, A|||| | ||
7.359|9|30|09|7q22.1|EPHB4, HTK, MYK1|P|Ephrin receptor EphB4 (hepatoma transmembrane kinase)||600011|REa, REc|||| | ||
7.360|9|30|09|7q22.1|DNAJC2, ZRF1, MPP11|P|DnaJ (Hsp40) homolog, subfamily C, member 2||605502|R, REc|||| | ||
7.361|9|9|08|7q22.1|FBXO24, FBX24|P|F-box only protein 24||609097|REc|||| | |5(Fbxo24)|
7.362|2|7|07|7q22.1|GAL3ST4|P|Galactose-3-O-sulfotransferase 4||608235|REc|||| | ||
7.363|1|18|11|7q22|IBD11|P|Inflammatory bowel disease 11||191390|Fd|associated with MUC3A||{Inflammatory bowel disease 11} (2)| | ||
7.364|10|13|09|7q22.1|MEPCE, BCDIN3|P|Methylphosphate capping enzyme||611478|A|||| | ||
7.365|9|2|09|7q22.1|MIR93, MIRN9|P|Micro RNA 93||612984|REc|||| | ||
7.366|9|3|09|7q22.1|MIR106B, MIRN106B|P|Micro RNA 106B||612983|REc|||| | ||
7.367|2|16|04|7q22.3|MLL5|P|Myeloid/lymphoid or mixed-lineage leukemia 5||608444|REc|||| | ||
7.368|1|18|11|7q22.1|MUC3A|P|Mucin 3A, intestinal||158371|REa, A|||| | ||
7.369|2|12|01|7q22|MUC3B|P|Mucin 3B, intestinal||605633|A|||| | ||
7.370|1|4|08|7q22.1|MUC12, MUC11|P|Mucin 12||604609|A|||| | ||
7.371|11|5|08|7q22.1|MUC17|P|Mucin 17||608424|R|||| | ||
7.372|4|15|04|7q22|MYH16|C|Myosin, heavy chain 16, skeletal muscle||608580|REc|inactivated in humans; expressed in masticatory muscles in|nonhuman primates|| | ||
7.373|8|24|04|7q22|PAPA4|P|Polydactyly, postaxial, type A4||608562|Fd|highest lod with D7S1799||Polydactyly, postaxial, type A4 (2)| | ||
7.374|9|20|00|7q22.3|PIK3CG|C|Phosphatidylinositol 3-kinase, catalytic, gamma||601232|A|||| | ||
7.375|1|31|01|7q22.1|PILRA|C|Paired immunoglobulin-like receptor, alpha||605341|REc, R|||| | ||
7.376|1|31|01|7q22.1|PILRB|P|Paired immunoglobulin-like receptor, beta||605342|REc, REn|||| | ||
7.377|12|16|08|7q22.1|PLOD3, LH3|P|Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3|(lysyl hydroxylase 3)|603066|REa, A|previously assigned to 7q36||Lysyl hydroxylase 3 deficiency, 612394 (3)| | |5(Plod3)|
7.378|9|30|09|7q22.1|POP7, RPP20|P|Processing of precursor 7, S. cerevisiae, homolog of||606113|R, REc|||| | ||
7.379|5|23|95|7q22.3|PRKAR2B|C|Protein kinase, cAMP-dependent, regulatory, type II, beta||176912|Fd, A, REc|||| | ||
7.380|9|7|10|7q22.1|RASA4, CAPRI, GAPL, KIAA0538|P|Ras p21 protein activator 4||607943|REc|||| | ||
7.381|6|2|11|7q22.1|RELN, RL, LIS2|C|Reelin||600514|A, REc|||Lissencephaly 2 (Norman-Roberts type), 257320 (3)| | |5(rl)|
7.382|2|23|12|7q22.1|SRRT, ARS2|P|Serrate RNA effector molecule, arabidopsis, homolog of||614469|REc|||| | ||
7.383|2|26|04|7q22.1|STAG3|P|Stromalin 3||608489|Psh, R, H, REc|||| | |5(Stag3)|
7.384|9|15|96|7q21.3|TFPI2|P|Tissue factor pathway inhibitor-2||600033|A|||| | ||
7.385|5|3|00|7q22.1|TFR2, HFE3|P|Transferrin receptor 2||604720|R|||Hemochromatosis, type 3, 604250 (3)| | ||
7.386|11|20|98|7q22.1|TRIP6, OIP1|P|Thyroid hormone receptor interactor-6||602933|R|||| | ||
7.387|3|5|98|7q22.1|VGF|P|VGF nerve growth factor inducible||602186|A|||| | ||
7.388|6|19|98|7q22.1|ZAN|P|Zonadhesin||602372|A|||| | |5(Zan)|
7.389|6|16|99|7q31.1|IFRD1|P|Interferon-related developmental regulator 1||603502|REc|||| | ||
7.390|8|4|97|7q22.3|GPR22|P|G protein-coupled receptor-22||601910|A|||| | ||
7.391|10|26|98|7q22.1|MPPB|P|Mitochondrial processing peptidase-beta||603131|REc|||| | ||
7.392|10|19|99|7q22.1|POLR2J|P|Polymerase II, RNA, subunit J||604150|REc|||| | ||
7.393|1|16|01|7q31.1|SLC26A3, DRA, CLD|C|Solute carrier family 26 (sulfate transporter), member 3||126650|A, REc, Fd|5' and close to PDS||?Colon cancer (1); Chloride diarrhea, congenital, Finnish type,|214700 (3) | ||
7.394|9|14|89|7q22-q32|G7P1|P|Kinase-like protein||148750|REa, Fd|||| | ||
7.395|11|4|04|7q22-q32|SCA18, SMNA|P|Spinal cerebellar ataxia 18||607458|Fd|between D7S2418 and D7S1804||Spinocerebellar ataxia 18 (2)| | ||
7.396|9|9|08|7q33|CNOT4, NOT4|P|CCR4-NOT transcription complex, subunit 4||604911|REc|||| | ||
7.397|7|20|12|7q22-qter|NM, NCR|C|Neutrophil migration, abnormal||162820|D|||?Neutrophil chemotactic repsonse, abnormal (2)| | ||
7.398|3|16|10|7q22.1|ALKBH4, ABH4|P|AlkB, E. coli, homolog of, 4||613302|REc|||| | ||
7.399|1|14|13|7q22.1|AP1S1, CLAPS1, AP19, MEDNIK|P|Adaptor-related protein complex 1, sigma 1 subunit||603531|REa, REc|||MEDNIK syndrome, 609313 (3)| | ||
7.400|4|27|12|7q22.1|AP4M1, SPG50, CPSQ3|C|Adaptor-related protein complex 4, mu-1 subunit||602296|REc|||Spastic paraplegia 50, autosomal recessive, 612936 (3)| | ||
7.401|3|18|94|7q22.1|AZGP1, ZAG|C|Alpha-2-glycoprotein, zinc||194460|REa, A|||| | ||
7.402|5|25|13|7q22.1|BUD31, G10|P|Bud31, S. cerevisiae, homolog of||603477|REc|||| | ||
7.403|4|23|09|7q22.1|CNPY4, PRAT4B, MGC40499|P|Canopy 4, zebrafish, homolog of||610047|R, REc|||| | ||
7.404|12|9|10|7q21.3|COL1A2|C|Collagen I, alpha-2 polypeptide||120160|S, REa, D, A|~17cM from CF||Ehlers-Danlos syndrome, type VIIB, 130060 (3); Osteogenesis|imperfecta, type IV, 166220 (3); Osteogenesis imperfecta, type III, 259420 (3); Osteogenesis imperfecta, type II, 166210 (3); {Osteoporosis, postmenopausal},|166710 (3); Ehlers-Danlos syndrome, cardiac valvular form, 225320 (3) |6(Cola2)|
7.405|7|18|12|7q22.1|COPS6, CSN6|P|COP9, subunit 6||614729|REc|||| | ||
7.406|12|14|95|7q22.1|CYP3A4|C|Cytochrome P450, subfamily IIIA (nifedipine oxidase) polypeptide 4||124010|REa, D, Fd, A|||| | |6(Cyp3)|
7.407|1|25|05|7q22.1|CYP3A5, P450PCN3|C|Cytochrome P450, subfamily IIIA, polypeptide 5||605325|REc, REn|||{Hypertension, salt-sensitive essential, susceptibility to}, 145500|(3) | ||
7.408|12|7|03|7q22.1|CYP3A7|P|Cytochrome P450, subfamily IIIA, polypeptide 7||605340|REn|||| | ||
7.409|12|11|01|7q22.1|CYP3A43|P|Cytochrome P450, subfamily IIIa, polypeptide 43||606534|REc|||| | ||
7.410|2|1|11|7q22.1|SH2B1, SH2B, KIAA1299|P|SH2B adaptor protein 1||608927|REc|||| | |7(Sh2b)|
7.411|6|13|12|7q22.1|EBXL13, FBL13|P|F-box and leucine-rich repeat protein 13||609080|REc|||| | |5(Fbxl13)|
7.412|8|18|08|7q22.1|GAEC1|P|Gene amplified in esophageal cancer 1||612130|REc|||| | ||
7.413|6|10|08|7q22.1|GIGYF1|P|GRB10-interacting GYF protein 1||612064|REc, H|||| | |5(Gigyf1)|
7.414|4|1|08|7q22.1|GJC3, CX30.2, CX31.3|P|Gap junction protein, gamma-3||611925|R, REc|||| | ||
7.415|9|18|08|7q22.1|HRBL, RABR|P|HIV-1 Rev binding protein-like||604019|REc|||| | ||
7.416|9|8|11|7q22.1|KPNA7|P|Karyopherin alpha 7||614107|REc|||| | ||
7.417|12|28|08|7q22.2-q22.3|LHFPL3|P|LHFP-like protein 3||609719|R, REc|||| | ||
7.418|4|17|13|7q22.1|LRWD1, ORCA|P|Leucine-rich repeats- and WD repeat domain-containing protein 1||615167|REc|||| | |5(Lrwd1)|
7.419|3|23|09|7q22.1|MIR25, MIRN25|P|Micro RNA 25||612150|REc|||| | ||
7.420|8|3|12|7q22.1|MOGAT3, MGAT3|P|Monoacylglycerol O-acyltransferase 3||610184|REc|||| | ||
7.421|10|7|08|7q22.1|NAPEPLD|P|N-acyl phosphatidylethanolamine-hydrolyzing phospholipase D||612334|REc|||| | ||
7.422|8|18|08|7q22.1|NFE4|P|Transcription factor NFE4||612133|REc|||| | ||
7.423|12|10|13|7q22.1|NYPA1|P|Neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1||615477|REc|||| | ||
7.424|7|22|09|7q22.1|ORAI2, MEM142B, C7orf19|P|ORAI calcium release-activated calcium modulator 2||610929|REc|||| | ||
7.425|2|18|98|7q22.1-q22.2|ORC5, ORC5L|P|Origin recognition complex, subunit 5, S. cerevisiae, homolog of||602331|REa, Psh, A, REc|||| | ||
7.426|9|30|09|7q22.1|PDAP1, PAP1, PAP|P|PDGFA-associated protein 1||607075|R, REc|||| | ||
7.427|8|21|12|7q22.1|PTCD1, KIAA0632|c|Pentatricopeptide repeat domain 1||614774|R, REc|||| | ||
7.428|4|6|11|7q22.1|SLC26A5, PRES|P|Solute carrier family 26, member 5||604943|REc|||Deafness, autosomal recessive 61, 613865 (3)| | ||
7.429|9|30|09|7q22.1|TAF6, TAF2E, TAFII80|P|TAF6 RNA polymerase II, TATA box-binding protein-associated factor,|80kD|602955|R, REc|||| | ||
7.430|5|24|13|7q22.1|ZKSCAN5, ZFP95, KIAA1015|C|Zinc finger protein with KRAB and SCAN domains 5||611272|REc, R, A|||| | |5(Zkscan5)|
7.431|11|2|04|7q22.1|TTC11, FIS1|P|Tetratricopeptide repeat domain 11||609003|R, REc|||| | ||
7.432|10|13|09|7q22.1|UFSP1|P|UFM1-specific protease 1||611481|REc|||| | ||
7.433|9|30|09|7q22.1|ZNF3|P|Zinc finger protein-3||194510|R, REc|?relation to ZNF4, ZNF5; previous assignment to Chr.5||| | ||
7.434|11|4|98|7q22.1|PSMC2, MSS1, S7|P|Proteasome 26S subunit, ATPase, 2||154365|A|||| | ||
7.435|4|8|08|7q22.3|NAMPT, PBEF1, VF, PBEF|P|Nicotinamide phosphoribosyltransferase||608764|R, REc|||| | ||
7.436|10|9|08|7q22.3-q31.1|CBLL1, HAKAI, RNF188|P|Cas-Br-M murine ectopic retroviral transforming sequence like-1||606872|R, REc|||| | ||
7.437|5|29|12|7q22.3|MPVQTL6|P|Mean platelet volume quantitative trait locus 6||614646|Fd|associated with rs342293||Mean platelet volume QTL6 (2)| | ||
7.438|7|19|12|7q22.3|RINT1|P|RAD50-interacting protein 1||610089|REc|||| | ||
7.439|3|1|06|7q22.3-q31.1|CMD1Q|P|Cardiomyopathy, dilated, 1Q||609915|Fd|between D7S2545 and D7S2554||Cardiomyopathy, dilated, 1Q (2)| | ||
7.440|11|19|13|7q31|AUTS9|P|Autism, susceptibility to, 9||611015|Fd|max lod near D7S530||{Autism, susceptibility to, 9} (2)| | ||
7.441|1|18|11|7q22.3|COG5, GOLTC1, GTC90, CDG2I|P|Component of oligomeric golgi complex 5||606821|REc|||Congenital disorder of glycosylation, type IIi, 613612 (3)| | ||
7.442|12|20|05|7q31.2-q31.3|CTTNBP2, CORTBP2, KIAA1758|P|Cortactin-binding protein 2||609772|REn|||| | ||
7.443|5|20|99|7q31|DFNB14|P|Deafness, autosomal recessive 14||603678|Fd|?same as DFNB17||Deafness, autosomal recessive 14 (2)| | ||
7.444|9|9|98|7q31|DFNB17|P|Deafness, autosomal recessive 17||603010|Fd|||Deafness, autosomal recessive 17 (2)| | ||
7.445|4|9|03|7q31.1|DOCK4, KIAA0716|P|Dedicator of cytokinesis 4||607679|REc|||| | |12(Dock4)|
7.446|11|4|98|7q31.33|GPR37|P|G protein-coupled receptor-37||602583|REc|||| | ||
7.447|9|15|00|7q31.1|GPR85, SREB2|P|G protein-coupled receptor-85||605188|R|||| | ||
7.448|5|4|00|7q31.32|HYAL4|P|Hyaluronoglucosaminidase 4||604510|A, REc|||| | ||
7.449|10|6|08|7q31.1|IMMP2L, IMP2|P|Inner mitochondrial membrane peptidase, subunit 2, S. cerevisiae,|homolog of|605977|Ch|||| | ||
7.450|1|27|03|7q31.31|ING3, P47ING3|P|Inhibitor of growth family, member 3||607493|REc|||| | ||
7.451|11|27|00|7q31.31|KCND2, KIAA1044|C|Potassium voltage-gated channel, Shal-related subfamily, member 2||605410|R|||| | ||
7.452|5|16|07|7q31.2|MET|C|Oncogene MET||164860|REa, A, F|~1.2cM from CF||Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3);|Hepatocellular carcinoma, childhood type, 114550 (3) | |6(Met)|
7.453|8|18|08|7q31.1|PNPLA8|P|Patatin-like phospholipase domain-containing protein 8||612123|REc|||| | ||
7.454|7|6|12|7q22.3|SLC26A4, PDS, DFNB4, EVA, TDH2B|C|Solute carrier family 26 (sulfate transporter), member 4||605646|Fd|some patients have digenic mutations with FOXI1||Pendred syndrome, 274600 (3); Deafness, autosomal recessive 4, with|enlarged vestibular aqueduct, 600791 (3) | ||
7.455|11|13|95|7q31.32|SPAM1|P|Sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida|binding)|600930|A|||| | ||
7.456|3|23|06|7q33|STRA8|P|Stimulated by retinoic acid 8, mouse, homolog of||609987|REc|||| | ||
7.457|11|26|01|7q31.1|FOXP2, SPCH1, TNRC10, CAGH44|C|Forkhead box P2||605317|Fd, Ch, REc|||Speech-language disorder-1, 602081 (3)| | ||
7.458|9|8|11|7q33|EXOC4, SEC8, KIAA1699|P|Exocyst complex component 4||608185|REc, R|||| | ||
7.459|4|21|10|7q31.32|TAS2R16, T2R16|C|Taste receptor type 2, member 16||604867|REc|||{Alcohol dependence}, 103780 (3)| | |6(T2r18)|
7.460|6|10|94|7q31.2|WNT2, INT1L1|P|Wingless-type MMTV integration site family, member 2||147870|C|isolated by CMGT with MET||| | |6(Irp, Wnt2)|
7.461|12|4|90|7q36.1|ABP1|P|Amiloride-binding protein-1||104610|A|||| | ||
7.462|3|20|08|7q32.1|CCDC136, NAG6, KIAA1793|P|Coiled-coil domain-containing protein 136||611902|REn|||| | ||
7.463|3|7|13|7q31.1|DLD, LAD, PHE3, DLDD|C|Dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase|complex, 2-oxo-glutarate complex)|238331|REa|||Dihydrolipoamide dehydrogenase deficiency, 246900 (3)| | |12(Dld)|
7.464|8|28|01|7q31.32|SLC13A1, NAS1|P|Solute carrier family 13 (sodium/sulfate symporters), member 1||606193|R|||| | ||
7.465|10|7|98|7q32.1|SMOH, SMO|P|Smoothened, Drosophila, homolog of||601500|A|||Basal cell carcinoma, somatic (3)| | ||
7.466|4|16|11|7q33|BPGM|P|2,3-bisphosphoglycerate mutase||613896|A|||Erythrocytosis due to bisphosphoglycerate mutase deficiency,|222800 (3) | ||
7.467|8|2|13|7q31.2|CAV1, BSCL3, CGL3, PPH3|C|Caveolin-1||601047|REc|||Lipodystrophy, congenital generalized, type 3, 612526 (3);|Pulmonary hypertension, primary, 3, 615343 (3) | ||
7.468|3|29|99|7q31.2|CAV2|P|Caveolin-2||601048|REc|||| | |6(Cav2)|
7.469|2|1|11|7q31.1|DNAJB9, MDG1|P|DnaJ, E. coli, homolog of, subfamily B, member 9|(microvascular endothelial differentiation gene-1)|602634|REc|previously assigned to chr.14 by FISH||| | ||
7.470|3|29|12|7q31.1-q31.2|MDFIC, HIC|P|MYOD family inhibitor domain-containing protein||614511|REc|||| | ||
7.471|11|7|01|7q31.2|ST7, TSG7, RAY1, FAM4A1|P|Suppressor of tumorigenicity 7 (breast)||600833|C, D|||| | ||
7.472|3|29|10|7q31.31|TSPAN12, NET2, EVR5|P|Tetraspanin 12||613138|REc|||Exudative vitreoretinopathy 5, 613310 (3)| | |6(Tspan12)|
7.473|1|20|09|7q31.1|THAP5|P|THAP domain-containing protein 5||612534|REc|||| | ||
7.474|1|29|01|7q31.1|ZNF277|P|Zinc finger protein-277||605465|REn|||| | ||
7.475|1|21|97|7q31.1|NRCAM|P|Neuronal cell adhesion molecule||601581|A|||| | ||
7.476|4|23|13|7q31.1|LAMB1, LIS5|C|Laminin, beta-1||150240|REa, A, Ch|||Lissencephaly 5, 615191 (3)| | |1(Lamb1)|
7.477|10|27|10|7q31.2|CFTR, ABCC7, CF, MRP7|C|Cystic fibrosis transmembrane conductance regulator|(ATP-binding cassette, subfamily C, member 7)|602421|F, Fd|distal and 5' to MET||Cystic fibrosis, 219700 (3); Congenital bilateral absence of vas|deferens, 277180 (3); Sweat chloride elevation without CF (3); {Pancreatitis, idiopathic}, 167800 (3); {Hypertrypsinemia, neonatal} (3);|{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)|6(Cftr)|
7.478|7|11|01|7q31.2|TES|P|Testin||606085|REc|||| | |6(Tes)|
7.479|2|19|97|7q31.2|CAPZA2, CAPPA2|P|Capping protein (actin filament) muscle Z-line, alpha 2||601571|Psh, REn|||| | |6(Cappa2)|
7.480|8|9|00|7q31.32|AASS|P|Alpha-aminoadipic semialdehyde synthase||605113|R|||Hyperlysinemia, 238700 (3); Saccharopinuria, 268700 (1)| | ||
7.481|1|30|07|7q31.31|ANKRD7|P|Ankyrin repeat domain-containing protein 7||610731|REc|||| | ||
7.482|5|12|99|7q32.1|ARF5|P|ADP-ribosylation factor 5||103188|REc|||| | ||
7.483|4|30|09|7q31.2|ASZ1, ALP1, ANKL1, GASZ|P|Ankyrin repeat, SAM, and basic leucine zipper domain-containing 1||605797|REc|||| | ||
7.484|3|24|06|7q31.32|CADPS2, KIAA1591|P|Calcium-dependent activator protein for secretion 2||609978|A|||| | ||
7.485|5|28|13|7q31.31|FAM3C|P|Family with sequence similarity 3, member C||608618|REc, R|||| | ||
7.486|3|16|10|7q31.32|FEZF1, FEZ, ZNF312B|P|FEZ family zinc finger protein 1||613301|REc|||| | ||
7.487|12|11|12|7q32.1|LEP, OB, LEPD|C|Leptin (murine obesity homolog)||164160|H, REa, REc, A|in mouse cen-Cola-2-Met-ob-Cpa-Tcrb-tel||Obesity, morbid, due to leptin deficiency, 614962 (3)| | |6(ob)|
7.488|1|23|01|7q32.1|P100, SND1|C|EBNA-2 coactivator p100||602181|REc, REa, A|||| | ||
7.489|2|25|03|7q31.32|PTPRZ1, PTP18|P|Protein-tyrosine phosphatase, receptor-type, zeta-1, polypeptide||176891|REa, A|||{H. pylori infection, susceptibility to}, 600263 (1)| | ||
7.490|2|17|09|7q31.3|STQTL2|P|Stature quantitative trait locus 2||606256|Fd|max lod at D7S195||{Stature QTL 2} (2)| | ||
7.491|7|19|12|7q31.31|WNT16|P|Wingless-type MMTV integration site family, member 16||606267|REc|||| | ||
7.492|3|31|11|7q32.1|IMPDH1, RP10, LCA11|C|Inosine-5'-monophosphate dehydrogenase, type I||146690|Psh, A, Fd|pseudogene on 16p13.13||Retinitis pigmentosa 10, 180105 (3); Leber congenital amaurosis 11,|613837 (3) | ||
7.493|8|30|10|7q32.1|OPN1SW, BCP, CBT|C|Blue cone pigment (opsin 1, short-wave-sensitive)||613522|REa, A|||Colorblindness, tritan, 190900 (3)| | |6(Bcp)|
7.494|4|28|00|7q34|TAS2R3, T2R3|P|Taste receptor type 2, member 3||604868|REc|||| | ||
7.495|4|28|00|7q34|TAS2R4, T2R4|P|Taste receptor type 2, member 4||604869|REc|||| | |6(T2R8)|
7.496|1|31|01|7q34|TAS2R5, T2R5|P|Taste receptor type 2, member 5||605062|REc|||| | ||
7.497|6|4|98|7q31.33|GRM8|P|Glutamate receptor, metabotropic-8||601116|A|||| | ||
7.498|10|6|09|7q32|BCC6|P|Basal cell carcinoma, susceptibility to, 6||613063|Fd|associated with rs157935||{Basal cell carcinoma, susceptibility to, 6} (2)| | ||
7.499|2|9|12|7q32.2|CEP41, TSGA14, JBTS15|P|Centrosomal protein, 41kD||610523|REc|||Joubert syndrome 15, 614464 (3)| | ||
7.500|5|26|13|7q32|COPG2IT1, CIT1|P|Coatomer protein complex, subunit gamma-2, intronic transcript 1||610581|REc|||| | ||
7.501|3|20|03|7q32.2|CPA4, CPA3|P|Carboxypeptidase A4||607635|RE|||| | ||
7.502|11|12|96|7q32.2|MEST, PEG1|C|Mesoderm specific transcript, mouse, homolog of||601029|A, H, REc|imprinted maternally||| | |6(Mest)|
7.503|1|13|99|7q32.1|CALU|P|Calumenin||603420||||| | |7(Calu)|
7.504|4|19|01|7q32|CATR1|P|CATR tumorigenic conversion 1||600676|REc|||| | ||
7.505|2|1|00|7q32.2|COPG2|P|Coatomer protein complex, subunit gamma-2||604355|REc|||| | ||
7.506|4|19|01|7q32.2|CPA2|P|Carboxypeptidase A2, pancreatic||600688|REc|||| | ||
7.507|7|1|11|7q32.1|FLNC, FLN2, ABPA, ABPL, MFM5, MPD4|C|Filamin C (actin-binding protein-280)||102565|REa, R, H|||Myopathy, myofibrillar, 5, 609524 (3); Myopathy, distal, 4, 614065|(3) | |6(Fln2)|
7.508|9|24|08|7q32.1|IRF5, IBD14, SLEB10|C|Interferon regulatory factor 5||607218|REc|||{Inflammatory bowel disease 14}, 612245 (3);|{Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3) | ||
7.509|2|9|01|7q32.3|MKLN1|C|Muskelin 1||605623|REc, A|||| | |6(Mkln1)|
7.510|5|8|97|7q31.32|NDUFA5, UQOR13|P|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)||601677|REa, A|||| | ||
7.511|4|1|96|7q32.2|NRF1|C|Nuclear respiratory factor 1||600879|Psh, A|earlier location = 7q31||| | ||
7.512|1|14|09|7q32.1|PAX4, MODY9, KPD|C|Paired box homeotic gene-4||167413|REa, A|||Maturity-onset diabetes of the young, type IX, 612225 (3);|Diabetes mellitus, type 2, 125853 (3); Diabetes mellitus, ketosis-prone, 612227 (3)| |6(Pax4)|
7.513|9|12|11|7q32|PBC4|P|Biliary cirrhosis, primary, 4||614220|Fd|associated with rs10488631||Biliary cirrhosis, primary, 4 (2)| | ||
7.514|9|28|05|7q32|PPR3|P|Photoparoxysmal response 3||609573|Fd|max lod at D7S1804||Photoparoxysmal response 3 (2)| | ||
7.515|4|19|01|7q32.2|UBE2H, UBCH2, UBC8|C|Ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)||601082|REa, REc|||| | ||
7.516|1|23|09|7q33|AKR1D1, SRD5B1, CBAS2|P|Bile acid synthesis defect, congenital, 2||604741|REc|||Bile acid synthesis defect, congenital, 2, 235555 (3)| | ||
7.517|11|4|98|7q32.3|PODXL, PCLP|P|Podocalyxin-like||602632|A, Psh|||| | ||
7.518|4|19|11|7q32-q33|SCA32|P|Spinocerebellar ataxia 32||613909|Fd|between rs3847110 and rs2241728||Spinocerebellar ataxia 32 (2)| | ||
7.519|3|31|11|7q32-q34|CSS|L|Coffin-Siris syndrome||135900|Ch|||?Coffin-Siris syndrome (2)| | ||
7.520|4|24|08|7q34|MRPS33|P|Mitochondrial ribosomal protein S33||611993|REc|4 pseudogenes||| | ||
7.521|6|28|02|7q33-q34|TRIM24, TIF1, TIF1A, PTC6|P|Tripartite motif-containing protein 24|(Transcriptional intermediary factor 1)|603406|A|fused with RET to form PTC6||Thyroid carcinoma, papillary, 188550 (3)| | ||
7.522|11|5|97|7q34-q35|EPHA1, EPHT1|C|eph tyrosine kinase 1 (erythropoietin-producing hepatoma amplified|sequence; oncogene EPH; ephrin receptor EphA1)|179610|REa, A|||| | ||
7.523|7|13|89|7q34|PIP|P|Prolactin-inducible protein||176720|REa, A|||| | ||
7.524|6|11|91|7q32.2|CPA1|C|Carboxypeptidase A||114850|REa, Fd|both CPA and TRY1 = serine proteases||| | |6(Cpa)|
7.525|4|23|09|7q32.1|GCC1, GCC88|P|GRIP and coiled-coil domains-containing protein 1||607418|R|||| | ||
7.526|6|24|08|7q32.1|RBM28|C|RNA-binding motif protein 28||612074|R, REc, Fd|||Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3)| | ||
7.527|4|19|06|7q32.1|TNPO3, TRNSR|P|Transportin 3||610032|R, REc|||| | ||
7.528|2|10|04|7q32.1-q32.2|LGMD1F|P|Muscular dystrophy, limb-girdle, type 1F||608423|Fd|||Muscular dystrophy, limb-girdle, type 1F (2)| | ||
7.529|4|8|13|7q32.2|KLHDC10, SLIM|C|KELCH domain-containing protein 10||615152|R, REc|||| | ||
7.530|6|26|11|7q32.3|LKF14, BTEB5|P|Kruppel-like factor 14||609393|REc|||| | |6(Klf14)|
7.531|10|12|09|7q32.2|MIR96, MIRN96, DFNA50|P|Micro RNA 96||611606|REc|||Deafness, autosomal dominant 50, 613074 (3)| | |6(Mirn96)|
7.532|3|23|09|7q32.2|MIR182, MIRN182|P|Micro RNA 182||611607|REc, H|||| | |6(Mirn182)|
7.533|3|23|09|7q32.2|MIR183, MIRN183|P|Micro RNA 183||611608|R, REc|||| | ||
7.534|9|12|11|7q32.2-q36.1|HYSP3|P|Hypospadias 3, autosomal||146450|Fd|between D7S2519 and D7S2442.||Hypospadias 3, autosomal (2)| | ||
7.535|7|1|05|7q32.1|KCP|P|Kielin/chordin-like protein||609344|REc|||| | |6(Kcp)|
7.536|3|23|09|7q32.3|MIR29A, MIRN29A|C|Micro RNA 29A||610782|REc|||| | ||
7.537|10|08|08|7q32.3|BMIQ1|P|Body mass index quantitative trait locus 1||606641|Fd|max lod at D7S1804||[Body mass index QTL1] (2)| | ||
7.538|3|23|09|7q32.3|MIR29B1, MIRN29B1|C|Micro RNA 29B1||610783|REc|||| | ||
7.539|9|30|09|7q32.3|PLXNA4|P|Plexin A4||604280|TM, REc|||| | ||
7.540|2|2|01|7q33|DGKI|P|Diacylglycerol kinase, iota, 130-kD||604072|A|||| | ||
7.541|2|21|11|7q32-q33|CHCHD3|P|Coiled-coil-helix-coiled-coil-helix domain-containing protein 3||613748|REc|||| | ||
7.542|5|29|12|7q33|AKR1B10, ARL1|P|Aldo-keto reductase family 1, member B10||604707|REc|||| | ||
7.543|1|5|93|7q33|CALD1, CDM|P|Caldesmon-1||114213|A|||| | ||
7.544|9|21|11|7q33|CHDM|P|Chordoma||215400|Fd, Ch|associated with duplication of the T gene||{Chordoma, susceptibility to} (4)| | ||
7.545|3|24|06|7q34|CLEC5A, CLECSF5, MDL1|P|C-type lectin domain family 5, member A||604987|A|||| | ||
7.546|9|16|12|7q33|CREB3L2, BBF2H7|P|cAMP response element-binding protein 3-like 2||608834|REc|||| | ||
7.547|9|11|12|7q34|KEL|C|Kell blood group||613883|Fd, REa, A|||[Blood group, Kell], 110900 (3)| | ||
7.548|4|23|09|7q33|LUZP6, MPD6|P|Leucine zipper protein 6||611050|REc|||| | ||
7.549|12|1|11|7q33|NUP205, C7orf14, KIAA0225|P|Nucleoporin, 205kD||614352|R, REc|||| | ||
7.550|9|27|94|7q33|PTN, NEGF1|C|Pleiotrophin (heparin binding growth factor 8, neurite|growth-promoting factor 1)|162095|REa, A|||| | |6(Ptn)|
7.551|12|14|99|7q33|SLC13A4, SUT1|P|Solute carrier family 13 (sodium/sulfate symporters), member 4|(sulfate transporter 1)|604309|REc|||| | ||
7.552|4|18|07|7q33|SLC35B4|P|Solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine|transporter), member B4|610923|REc|||| | ||
7.553|7|16|02|7q34|ATP6V0A4, ATP6N1B, VPP2, RTA1C, RTADR|C|ATPase, H+ transporting, lysosomal V0 subunit a isoform 4||605239|Fd|||Renal tubular acidosis, distal, autosomal recessive, 602722 (3)| | ||
7.554|4|23|02|7q34|HIPK2|C|Homeodomain-interacting protein kinase 2||606868|A|||| | ||
7.555|5|7|03|7q34|TRPV6, ECAC2, CAT1, CATL|P|Transient receptor potential cation channel, subfamily V, member 6||606680|A|||| | ||
7.556|1|23|01|7q35|ARHGEF5, TIM|P|Rho guanine nucleotide exchange factor-5 (oncogene TIM)||600888|REa, A|||| | ||
7.557|7|10|98|7q34|EPHB6, HEP|P|Ephrin receptor EPHB6||602757|A|||| | ||
7.558|1|10|02|7q33|MTPN|P|Myotrophin||606484|A|||| | ||
7.559|7|23|13|7q34|AGK, MULK, MTDPS10, CATC5, CTRCT38|P|Acylglycerol kinase||610345|REc|||Sengers syndrome, 212350 (3); Cataract 38, autosomal recessive,|614691 (3) | ||
7.560|2|8|11|7q34|BRAF, NS7|C|Murine sarcoma viral (v-raf) oncogene homolog B1||164757|A, REa|pseudogene BRAF2 on Xq13 or 7q||Melanoma, malignant, somatic (3); Colorectal cancer, somatic (3);|Adenocarcinoma of lung, somatic, 211980 (3); Nonsmall cell lung cancer, somatic (3); Cardiofaciocutaneous syndrome, 115150 (3); Noonan syndrome 7,|613706 (3); LEOPARD syndrome 3, 613707 (3) |10(Braf)|
7.561|10|2|12|7q34|GSTK1|P|Glutathione S-transferase, kappa-1||602321|REc|||| | ||
7.562|4|26|10|7q34|KIAA1549|C|KIAA1549 gene||613344|Psh, REc|||| | ||
7.563|9|30|09|7q34|LUC7L2|P|Luc7, S. cerevisiae, homolog of, 2||613056|REc, H|||| | |6(Luc7l2)|
7.564|4|1|03|7q34|MGAM, MGA|P|Maltase-glucoamylase||154360|REc|similar to EST GS1365||| | ||
7.565|12|17|08|7q34|PARP12, ZC3HDC1, FLJ22693|P|Poly(ADP-ribose) polymerase family, member 12||612481|REc|||| | ||
7.566|1|18|96|7q34|SSBP1, SSBP|P|Single-stranded DNA-binding protein 1||600439|Psh, A|||| | ||
7.567|1|2|08|7q34|SVOPL|P|SV2-related protein-like||611700|REc|||| | |6(Svopl)|
7.568|9|21|11|7q34|TBXAS1, GHOSAL, CYP5, BDPLT14|C|Thromboxane A synthase 1, platelet||274180|A, Fd|||Ghosal hematodiaphyseal syndrome, 231095 (3); ?Thromboxane synthase|deficiency, 614158 (1) | |6(Tbxas1)|
7.569|6|26|11|7q34|TAS2R38, T2R61, PTC|C|Taste receptor, type 2, member 38||607751|Fd, REc|||[Phenylthiocarbamide tasting], 171200 (3)| | ||
7.570|6|27|11|7q34|TAS2R40, T2R40|P|Taste receptor, type 2, member 40||613964|REc|||| | ||
7.571|2|13|12|7q35|TPK1, THMD5|P|Thiamine pyrophosphokinase||606370|A|||Thiamine metabolism dysfunction syndrome 5 (episodic|encephalopathy type), 614458 (3) | ||
7.572|10|15|13|7q34|TRBC1|C|T-cell receptor beta chain constant region 1||186930|REa, A|||| | |6(Tcrb)|
7.573|10|15|13|7q34|TRBC2|P|T-cell receptor beta chain constant region 2||615445|REc|||| | ||
7.574|10|15|13|7q34|TRBV@|P|T-cell receptor beta chain variable gene cluster||615446|REc|||| | ||
7.575|10|15|13|7q34|TRBJ@|P|T-cell receptor beta chain joining gene cluster||615449|REc|||| | ||
7.576|10|15|13|7q34|TRBD1|P|T-cell receptor beta chain diversity gene 1||615447|REn|||| | ||
7.577|10|15|13|7q34|TRBD2|P|T-cell receptor beta chain diversity gene 2||615448|REc|||| | ||
7.578|3|31|11|7q34|UBN2|P|Ubinuclein 2||613841|REc|||| | ||
7.579|7|22|11|7q34|WEE2, WEE1B|P|Wee1, S. pombe, homolog of, 2||614084|REc|||| | ||
7.580|11|30|06|7q34|ZC3HAV1, ZAP, FLJ13288, FLB6421|P|Zinc finger CCCH domain-containing antiviral protein 1||607312|REc|||| | |6(Zap)|
7.581|9|30|98|7q34|ZYX|C|Zyxin||602002|Psh, A|||| | ||
7.582|10|16|12|7q34-q36|DHMN1|P|Neuronopathy, distal hereditary motor, type I||182960|Fd|between D7S2513 and D7S637||Neuronopathy, distal hereditary motor, type I (2)| | ||
7.583|10|15|98|7q34-q36|DFNB13|P|Deafness, autosomal recessive 13||603098|Fd|||Deafness, autosomal recessive 13 (2)| | ||
7.584|3|12|01|7q34-q36|OTSC2|P|Otosclerosis 2||605727|Fd|||Otosclerosis 2 (2)| | ||
7.585|1|22|08|7q36.1|ACCN3, ASIC3, TNAC1, DRASIC|P|Cation channel, amiloride-sensitive, neuronal 3||611741|R|||| | ||
7.586|12|2|99|7q33|AKR1B1, ALDR1|P|Aldo-keto reductase family 1, member B1||103880|REa, A|||| | ||
7.587|8|30|95|7q34|CLCN1|P|Chloride channel-1, skeletal muscle||118425|H, REa, Fd|||Myotonia congenita, recessive, 255700 (3); Myotonia congenita,|dominant, 160800 (3); Myotonia levior, recessive (3) | |6(adr, Clc1)|Abdalla (1992); Koch (1992)
7.588|8|19|98|7q34|CASP2, NEDD2, ICH1|C|Caspase 2, apoptosis-related cysteine protease (neural precursor cell|expressed, developmentally down-regulated 2)|600639|R|||| | ||
7.589|5|20|13|7q36.1|EZH2, EZH1, WVS|C|Enhancer of zeste, Drosophila, homolog of, 2||601573|REc, Psh, A|pseudogene on 21q22||Weaver syndrome, 277590 (3)| | |6(Ezh2)|
7.590|10|6|08|7q36.1|FASTK, FAST|C|Fas-activated serine/threonine kinase||606965|R, REc|||| | ||
7.591|11|13|07|7q35|NOBOX, POF5|C|Newborn ovary homeobox, mouse, homolog of||610934|REc|||Premature ovarian failure 5, 611548 (3)| | |6(Nobox)|
7.592|8|8|13|7q35|OR2F1, OLF3|P|Olfactory recptor, family 2, subfamily F, member 1||608497|REa, Psh|||| | ||
7.593|7|1|11|7q34|PRSS1, TRY1|C|Protease, serine, 1 (trypsin 1)||276000|REa, Fd, REn, R|8 trypsinogen genes embedded in TCRB locus||Pancreatitis, hereditary, 167800 (3);|Trypsinogen deficiency, 614044 (1) | |6(Try1)|
7.594|5|31|06|7q35|PRSS2, TRY2|C|Protease, serine, 2 (trypsin 2)||601564|REn, Fd|||{Pancreatitis, chronic, protection against}, 167800 (3)| | ||
7.595|6|26|11|7q35|TAS2R41, T2R59|C|Taste receptor, type 2, member 41||613965|REa, REc|||| | ||
7.596|6|26|11|7q35|TAS2R60, T2R60|C|Taste receptor, type 2, member 60||613968|REa, REc|||| | ||
7.597|5|7|03|7q34|TRPV5, ECAC1, CAT2|P|Transient receptor potential cation channel, subfamily V, member 5||606679|R, A|||| | ||
7.598|1|29|01|7q36.1|ABCB8, MABC1|C|ATP-binding cassette, subfamily B, member 8||605464|REc, REa|||| | ||
7.599|2|19|10|7q35-q36|CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1|C|Contactin-associated protein-like 2||604569|REc|||Cortical dysplasia-focal epilepsy syndrome, 610042 (3); {Autism|susceptibility 15}, 612100 (3); Pitt-Hopkins like syndrome 1, 610042 (3) | ||
7.600|8|11|91|7q33|CHRM2|C|Cholinergic receptor, muscarinic, 2||118493|A, REa, Fd|||| | ||
7.601|1|23|90|7q35-q36|D7S437, MS3315|P|Minisatellite 33.15||157570|REa, A|||| | ||
7.602|11|3|98|7q35-q36|GPDS1, PDS1|P|Glaucoma-related pigment dispersion syndrome-1||600510|Fd|||Pigment dispersion syndrome (2)| | ||
7.603|1|13|11|7q36.1|KCNH2, LQT2, HERG, SQT1|C|Potassium voltage-gated channel, subfamily H, member 2|(human ether-a-go-go-related gene)|152427|Fd, REn, A|||Long QT syndrome-2, 613688 (3); {Long QT syndrome-2, acquired,|susceptibility to}, 613688 (3); Short QT syndrome-1, 609620 (3) | ||
7.604|11|28|94|7q36.1|SLC4A2, AE2, EPB3L1|P|Solute carrier family 4, anion exchanger, member 2 (erythrocyte|membrane protein band 3-like 1)|109280|REa, A|||| | |5(Ae2)|
7.605|1|5|09|7q35-q36|SLI4|P|Specific language impairment 4||612514|associated with rs1723629|||{Specific language impairment 4} (2)| | ||
7.606|6|16|99|7q36.1|SMARCD3, BAF60C|P|SWI/SNF related, matrix-associated, actin-dependent regulator of|chromatin, subfamily D, member 3|601737|Psh, R|||| | ||
7.607|12|24|08|7q36.1|ABCF2, HUSSY18|C|ATP-binding cassette, subfamily F, member 2||612510|Psh, R, REc|||| | ||
7.608|6|14|01|7q36|ACRPS|P|Acropectoral syndrome||605967|Fd|||Acropectoral syndrome (2)| | ||
7.609|10|7|05|7q36|AD10|P|Alzheimer disease-10||609636|Fd|max lod with D7S798||Alzheimer disease-10, 104300 (2)| | ||
7.610|6|12|12|7q36.1|ATP6V0E2|P|ATPase, H+ transporting, lysosomal, 9kD, V- subunit E2||611019|REc|||| | ||
7.611|11|19|13|7q36|AUTS10|P|Autism, susceptibility to, 10||611016|Fd|max lod at D7S483||{Autism, susceptibility to, 10} (2)| | ||
7.612|2|16|04|7q36.3|BLACE|P|B-cell acute lymphoblastic leukemia-expressed gene||608450|R|||| | ||
7.613|5|24|13|7q36.3|C7orf13|P|Chromosome 7 open reading frame 13||610242|REc|overlaps RNF32 on the opposite strand||| | ||
7.614|10|13|94|7q36.1|CDK5|P|Cyclin-dependent kinase 5||123831|A|||| | |5(cdk5)|
7.615|11|19|13|7q36.3|EN2|P|Engrailed-2||131310|REa, A|||| | |5(En2)|
7.616|6|16|99|7q36.1|GBX1|P|Gastrulatin brain homeo box 1||603354|A|||| | |5(Gbx1)|
7.617|7|16|09|7q36|HBFQTL5|P|Fetal hemoglobin quantitative trait locus 5||142335|Fd|associated with rs11886868||[Fetal hemoglobin QTL5] (2)| | ||
7.618|11|5|97|7q36.2-q36.3|INSIG1|P|Insulin-induced gene 1||602055|A|||| | ||
7.619|10|28|08|7q36.3|LMBR1, ACHP, C7orf2, PPD2|C|Limb region 1, mouse, homolog of||605522|Fd, HZ, Fd|||Acheiropody, 200500 (3); Polydactyly, preaxial type II, 174500 (3);|Triphalangeal thumb, type I, 174500 (3); Triphalangeal thumb-polysyndactyly syndrome, 174500 (3); Syndactyly, type IV, 186200 (3)| |5(Lmbr1)|
7.620|12|11|02|7q36.1|MLL3, KIAA1506|P|Myeloid/lymphoid or mixed-lineage leukemia 3||606833|A|||| | ||
7.621|2|21|10|7q36.3|MNX1, HLXB9, HOXHB9, SCRA1|C|Motor neuron and pancreas homeobox 1||142994|Fd, REc|||Currarino syndrome, 176450 (3)| | ||
7.622|5|26|13|7q36.3|NOM1, C7orf3|P|Nucleolar protein with MIF4G domain 1||611269|REc|||| | |5(Nom1)|
7.623|7|8|10|7q36.1|NOS3|C|Nitric oxide synthase 3, endothelial cell||163729|REa, A, Psh|||{Coronary artery spasm 1, susceptibility to} (3); {Alzheimer disease,|late-onset, susceptibility to}, 104300 (3); {Hypertension, susceptibility to}, 145500 (3); {Hypertension, pregnancy-induced}, 189800 (3); {Placental|abruption} (3); {Ischemic stroke, susceptibility to}, 601367 (3) |5(Nos3)|
7.624|10|11|05|7q36.2|PACIP1, PAXIP1L, PTIP|P|PAX transcription activation domain-interacting protein 1||608254|R, A|||{Alzheimer disease, susceptibility to}, 104300 (3)| | ||
7.625|1|22|09|7q36.1|PRKAG2, WPWS, CMH6|C|Protein kinase, AMP-activated, noncatalytic, gamma-2||602743|REc, R, Fd|||Wolff-Parkinson-White syndrome, 194200 (3); Cardiomyopathy, familial|hypertrophic 6, 600858 (3); Glycogen storage disease of heart, lethal congenital, 261740 (3)| ||
7.626|3|23|06|7q36.3|PTPRN2, IAR, ICAAR|P|Protein-tyrosine phosphatase, receptor-type, N, polypeptide 2||601698|A, R|||| | ||
7.627|9|10|09|7q36.1|RHEB, RHEB2|P|Ras homolog enriched in brain||601293|A|||| | ||
7.628|5|24|13|7q36.3|RNF32|P|RING finger protein 32||610241|REc|||| | ||
7.629|7|12|02|7q36.1|RNY1, Y1|P|RNA, Y1 small cytoplasmic||601821|REa, REc|||| | ||
7.630|7|12|02|7q36.1|RNY3, Y3|P|RNA, Y3 small cytoplasmic||601822|REa, REc|||| | ||
7.631|7|12|02|7q36.1|RNY4, Y4|P|RNA, Y4 small cytoplasmic||601823|REa, REc|||| | ||
7.632|7|12|02|7q36.1|RNY5, Y5|P|RNA, Y5 small cytoplasmic||601824|REa, REc|||| | ||
7.633|2|7|12|7q36.3|SHH, HPE3, HLP3, SMMCI, MCOPCB5|C|Sonic hedgehog||600725|Fd, Psh, Ch|separate from TPT1||Holoprosencephaly-3, 142945 (3); Single median maxillary central|incisor, 147250 (3); Microphthalmia with coloboma 5, 611638 (3); Schizencephaly, 269160 (3)| ||
7.634|8|6|13|7q36.1|ASB10, GLC1F|P|Ankyrin repeat- and SOCS box-containing protein 10||615054|REc, Fd|||Glaucoma 1, open angle, F, 603383 (3)| | ||
7.635|10|2|13|7q36.1|ATG9B, NOS3AS, APG9L2, SONE|P|Autophagy 9, S. cerevisiae, homolog of, B||612205|REc|||| | ||
7.636|2|1|11|7q36.1|CHPF2, KIAA1402, CSGlcAT|P|Chondroitin polymerizing factor 2||608037|REc|||| | ||
7.637|6|13|12|7q36.1|CUL1|P|Cullin 1||603134|REc|||| | ||
7.638|4|6|13|7q36.1|GALNT11, GALNACT11|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 11|615130|REc, H|||| | |5(Galnt11)|
7.639|4|6|13|7q36.1|GALNTL5, GALNACT19|C|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase-like 5|615133|REc|||| | ||
7.640|7|23|96|7q36.2|HTR5A|P|5-hydroxytryptamine (serotonin) receptor-5A||601305|Psh, REc|||| | |5(Htr5a)|
7.641|1|27|11|7q36.1|GIMAP1, IMAP1|P|GTPase, IMAP family, member 1||608084|REc|||| | ||
7.642|1|27|11|7q36.1|GIMAP2, IMAP2|P|GTPase, IMAP family, member 2||608085|REc|||| | ||
7.643|1|27|11|7q36.1|GIMAP4, IMAP4, IAN1|P|GTPase, IMAP family, member 4||608087|REc|||| | ||
7.644|1|27|11|7q36.1|GIMAP5, IAN4L1, IMAP3|P|GTPase, IMAP family, member 5||608086|REc|||| | |6|
7.645|4|17|13|7q36.1|LOC100134040|P|LOC100134040 gene||615171|REc|||| | ||
7.646|8|19|13|7q36.1|LR8|P|LR8 protein||610385|REc|||| | ||
7.647|5|23|13|7q36.1|MIR671|P|Micro RNA 671||615245|REc|||| | ||
7.648|6|24|13|7q36.1|NUB1|P|Negative regulator of ubiquitin-like proteins 1||607981|R, REc|||| | ||
7.649|5|11|09|7q36.1|RARRES2, TIG2|P|Retinoic acid receptor responder 2||601973|REc|||| | ||
7.650|8|19|13|7q36.1|TEM176A, HCA112, GS188|P|Transmembrane protein 176A||610334|R, REc|||| | |6(Gs188)|
7.651|9|2|12|7q36.1|TMUB1, DULP, SB144, C7orf21|P|Transmembrane and ubiquitin-like domain-containing protein 1||614792|REc|||| | ||
7.652|2|14|95|7q36.1|XRCC2|C|X-ray repair, complementing defective, repair in Chinese hamster|cells-2|600375|REa, R, C|||| | ||
7.653|5|31|13|7q36.1|ZBED6CL, C7orf29|P|ZBED6 C terminus-like protein||615252|REc|||| | ||
7.654|3|17|06|7q36.1|ZNF212, ZNFC150, ZNF182|P|Zinc finger protein 212||602386|Psh|||| | ||
7.655|7|20|12|7q36.1|ZNF282, HUB1|P|Zinc finger protein 282||603397|REc|||| | ||
7.656|9|8|11|7q36.1|ZNF467, EZI, ZFP467|P|Zinc finger protein 467||614040|REc|||| | ||
7.657|4|19|11|7q36.1|ZNF746, PARIS|P|Zinc finger protein 746||613914|REc|||| | ||
7.658|8|24|09|7q36.2|DPP6, VF2|P|Dipeptidylpeptidase VI||126141|Psh, REc|||Ventricular fibrillation, paroxysmal familial, 2, 612956 (3)| | |5(Dppx, Dpp6)|
7.659|5|24|13|7q36.3|NCAPG2, CAPG2, MTB|P|Non-SMC condensin II complex subunit G2||608532|REc|||| | ||
7.660|12|22|08|7q36.3|CNPY1|P|Canopy 1, zebrafish, homolog of||612493|REc|||| | ||
7.661|4|25|12|7q36.3|DNAJB6, MRJ, DJ4, LGMD1E|P|DNAJ/HSP40 homolog, subfamily B, member 6||611332|REc, Fd|previously assigned to 11q25||Muscular dystrophy, limb-girdle, type 1E, 603511 (3)| | ||
7.662|11|22|11|7q36.3|SCZD16, C16DUPq36.3, DUP7q36.3|P|Chromosome 7q36.3 duplication syndrome, 362kb||613959|Ch|362kb duplication that includes VIPR2||Schizophrenia 16 (4)| | ||
7.663|1|30|12|7q36.3|UBE3C, HECTH2, KIAA0010, KIAA10|C|Ubiquitin protein ligase E3C||614454|Psh, REc|||| | ||
7.664|11|22|11|7q36.3|VIPR2|P|Vasoactive intestinal peptide receptor 2||601970|A|||| | |12(Vipr2)|
7.665|11|11|13|7q36.3|WDR60, SRPS6|P|WD repeat containing protein 60||615462|REc|||Short rib-polydactyly syndrome, type VI, 615503 (3)| | ||
7.666|11|19|11|Chr.7|AIS2, VAMAS3|P|Autoimmune disease, susceptibility to, 2||608391|Fd|||{Autoimmune disease, susceptibility to, 2} (2)| | ||
7.667|10|23|87|Chr.7|NHCP2|P|Nonhistone chromosomal protein-2||118880|S|||| | ||
8.1|9|9|08|8p23.3|FBXO25, FBX25|P|F-box only protein 25||609098|REc|||| | |8(Fbxo25)|
8.2|6|16|99|8p23.3|MYOM2|P|Myomesin 2||603509|Psh, A|||| | ||
8.3|7|20|01|8p23.3-p22|DBA2|P|Diamond-Blackfan anemia 2||606129|Fd|||Diamond-Blackfan anemia 2 (2)| | ||
8.4|9|2|12|8p23.1|AGPAT5|P|1-acylglycerol-3-phosphate O-acyltransferase 5||614796|REc|||| | ||
8.5|5|26|13|8p23.1|CLDN23|P|Claudin 23||609203|REc, REn|||| | ||
8.6|9|9|08|8p23.1|DEFA1, DEF1, MRS|C|Defensin, alpha-1, myeloid-related sequence||125220|REa, A|||| | |8(Defcr)|
8.7|9|9|08|8p23.1|DEFA5, DEF5|P|Defensin, alpha-5, Paneth cell-specific||600472|REa|||| | ||
8.8|2|11|96|8p23.1|DEFA6, DEF6|P|Defensin, alpha-6, Paneth cell-specific||600471|REa|||| | ||
8.9|9|9|08|8p23.1|DEFB1|P|Defensin, beta-1||602056|A|||| | |8(Defb1)|
8.10|3|9|12|8p23.1|DEFB4A, DEFB4, DEFB2|C|Defensin, beta-4a (formerly defensin, beta-2)||602215|A, REc, Ch|||| | ||
8.11|4|18|07|8p23.1|DEFB103A, DEFB3, HBD3, HBP3|C|Defensin, beta 103A||606611|REc, Ch|||| | ||
8.12|12|29|05|8p23.1|DIH2|P|Hernia, congenital diaphragmatic 2||222400|Ch|||Hernia, congenital diaphragmatic 2 (2)| | ||
8.13|9|30|09|8p23.1|FAM90A3|P|Family with sequence similarity 90, member A3||613042|REc|copy 2||| | ||
8.14|9|30|09|8p23.1|FAM90A5|P|FAmily with sequence similarity 90, member A5||613043|REc|copy 5||| | ||
8.15|9|30|09|8p23.1|FAM90A7|P|Family with sequence similarity 90, member A7||613044|REc|copy 8||| | ||
8.16|9|30|09|8p23.1|FAM90A8|P|Family with sequence similarity 90, member A8||613045|REc|copy 15||| | ||
8.17|9|30|09|8p23.1|FAM90A9|P|Family with sequence similarity 90, member A9||613046|REc|copy 18||| | ||
8.18|9|30|09|8p23.1|FAM90A10|P|Family with sequence similarity 90, member A10||613047|REc|copy 19||| | ||
8.19|9|30|09|8p23.1|FAM90A12|P|Family with sequence similarity 90, member A12||613048|REc|copy 22||| | ||
8.20|9|30|09|8p23.1|FAM90A13|P|Family with sequence similarity 90, member A13||613049|REc|copy 4||| | ||
8.21|9|30|09|8p23.1|FAM90A14|P|Family with sequence similarity 90, member A14||613050|REc|copy 12||| | ||
8.22|9|30|09|8p23.1|FAM90A15|P|Family with sequence similarity 90, member A15||613051|REc|copy 1||| | ||
8.23|9|30|09|8p23.1|FAM90A18|P|Family with sequence similarity 90, member A18||613052|REc|copy 13||| | ||
8.24|9|30|09|8p23.1|FAM90A19|P|Family with sequence similarity 90, member A19||613053|REc|copy 17||| | ||
8.25|9|30|09|8p23.1|FAM90A20|P|Family with sequence similarity 90, member A20||613054|REc|copy 6||| | ||
8.26|11|26|01|8p23.1|MFHAS1, MASL1|P|Malignant fibrous histiocytoma-amplified sequences with leucine-rich|tandem repeats-1|605352|REc|||Malignant fibrous histiocytoma (2)| | ||
8.27|3|23|09|8p23.1|MIR124-1, MIR124A|P|Micro RNA 124-1||609327|REc|||| | ||
8.28|4|8|13|8p23.1|PRSS55, TSP1|P|Protease, serine, 55||615144|REc|||| | ||
8.29|9|24|08|8p23.1|SLEB12|P|Systemic lupus erythematosus, susceptibility to, 12||612254|Fd|associated with rs13277113||{Systemic lupus erythematosus, susceptibility to, 12} (2)| | ||
8.30|11|20|95|8p22|NAT1, AAC1|P|Arylamine N-acetyltransferase-1||108345|REa, A|||| | |8(Nat1)|
8.31|8|29|08|8p22|NAT2, AAC2|C|Arylamine N-acetyltransferase-2||612182|REa, A, H|acetylation polymorphism||[Acetylation, slow], 243400 (3)| | |8(Nat2)|
8.32|8|19|98|8p23.1|FDFT1, DGPT|P|Farnesyl-diphosphate farnesyltransferase 1 (squalene synthase)||184420|Psh, A|||| | ||
8.33|11|22|13|8p23.1|GATA4, ASD2, VSD1, TACHD|C|GATA-binding protein-4||600576|REa, H, A|mutations identified in 1 TACHD family||Atrial septal defect 2, 607941 (3); Ventricular septal defect 1,|614429 (3); Atrioventricular septal defect 4, 614430 (3); ?Testicular anomalies with or without congenital heart disease, 615542 (3)| |14(Gata4)|
8.34|8|20|02|8p23.1|ANGPT2, ANG2|C|Angiopoietin 2||601922|R, A|close to MCPH1||| | |8(Angpt2)|
8.35|11|21|03|8p23.3|ARHGEF10, KIAA0294|C|Rho guanine nucleotide exchange factor 10||608136|REc|||Slowed nerve conduction velocity, AD, 608236 (3)| | ||
8.36|9|9|08|8p23.3|CLN8, EPMR|P|CLN8 gene||607837|Fd, H|||Ceroid lipofuscinosis, neuronal, 8, 600143 (3); Ceroid|lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3) | |8(mnd)|
8.37|1|27|04|8p23.2|CSMD1, KIAA1890|P|Cub and Sushi multiple domains 1||608397|REc|||| | ||
8.38|10|6|09|8p23.1|DEFA4, DEF4, HP4|P|Defensin, alpha-4, corticostatin||601157|REa, REc|||| | ||
8.39|5|13|11|8p23.1|MCPH1|C|Microcephalin||607117|Fd, REc|genetic heterogeneity||Microcephaly 1, primary, autosomal recessive, 251200 (3)| | |8(Mcph1)|
8.40|4|13|05|8p23|MYP10|P|Myopia 10||609259|Fd|||Myopia 10 (2)| | ||
8.41|12|27|01|8p23.1|PINX1|P|PIN2-interacting protein 1||606505|REc|||| | ||
8.42|5|26|13|8p23.1|PPP1R3B, GL|P|Protein phosphatase 1, regulatory subunit 3B||610541|A|||| | ||
8.43|1|27|11|8p23.1|RP1L1|C|RP1-like protein 1||608581|REc|||Occult macular dystrophy, 613587 (3)| | |14(Rp1l1)|
8.44|3|16|10|8p23|WS2C|P|Waardenburg syndrome, type 2C||606662|Ch|||Waardenburg syndrome, type 2C (2)| | ||
8.45|4|22|10|8p23.1|BLK, MODY11|P|BLK nonreceptor tyrosine kinase||191305|REa, A|||Maturity-onset diabetes of the young, type 11, 613375 (3)| | |14(Blk)|
8.46|8|29|08|8p23.1|FAM167A, C8orf13|P|Family with sequence similarity 167, member A||610085|REc|||| | ||
8.47|10|15|97|8p23-p22|KWE|P|Keratolytic winter erythema||148370|Fd|||Keratolytic winter erythema (2)| | ||
8.48|9|5|02|8p23.1|MTMR9, MTMR8|P|Myotubularin-related protein 9||606260|REc|||| | ||
8.49|12|27|01|8p23.1|SPAG11, HE2, EP2|P|Sperm-associated antigen 11||606560|REc|||| | ||
8.50|4|17|13|8p23-p22|TDH|P|L-threonine dehydrogenase, pseudogene||615174|REc|||| | ||
8.51|1|13|99|8p21.3|EGR3|P|Early growth response 3||602419|A|||| | ||
8.52|9|11|12|8p23-p21|GEFSP6|P|Generalized epilepsy with febrile seizures plus, type 6||612279|Fd|between D8S1706 and D8S549||Epilepsy, generalized, with febrile seizures plus, type 6 (2)| | ||
8.53|11|1|12|8p22|VPS37A, HCRP1, SPG53|P|Vacuolar protein sorting 37A||609927|REc|||Spastic paraplegia 53, autosomal recessive, 614898 (3)| | ||
8.54|10|18|11|8p22|ANIB11|P|Aneurysm, intracranial berry, 11||614252|Fd|max lod at D8S552||Aneurysm, intracranial berry, 11 (2)| | ||
8.55|6|9|08|8p22|CHDS9|P|Coronary heart disease, susceptibility to, 9||612030|Fd|max lod at D8S1106||{Coronary heart disease, susceptibility to, 9} (2)| | ||
8.56|7|12|92|8p23.1|CTSB, CPSB|C|Cathepsin B||116810|REa, A, Psh, D|13q14 by rat probe||| | |8(Ctsb)|
8.57|10|7|09|8p22|FGL1, HFREP1|P|Fibrinogen-like 1||605776|R, REc|||| | ||
8.58|12|17|07|8p21.3|LPL, LIPD, HDLCQ11|C|Lipoprotein lipase||609708|REa, A, Fd|||Lipoprotein lipase deficiency, 238600 (3); Combined hyperlipidemia,|familial, 144250 (3); [High density lipoprotein cholesterol level QTL 11] (3) | |8(Lpl)|
8.59|12|11|01|8p21.3|LZTS1, F37, FEZ1|P|Leucine zipper, putative tumor suppressor 1||606551|Ch, LOH|||Esophageal squamous cell carcinoma, 133239 (3)| | ||
8.60|10|5|11|8p22|MSR1, SCARA1, SRA|C|Macrophage scavenger receptor||153622|REa, Fd, A|~11cM distal to LPL||Prostate cancer, hereditary, 176807 (3); Barrett|esophagus/esophageal adenocarcinoma, 614266 (3) | ||
8.61|6|16|99|8p22|MTMR7|P|Myotubularin-related protein 7||603562|R, Psh|||| | ||
8.62|6|19|01|8q22.2|POLR2K, RPB12|P|Polymerase II, RNA, subunit K||606033|R|||| | ||
8.63|1|30|12|8p22|PSD3, HCA67, EFA6R|P|Pleckstrin and Sec7 domains-containing protein 3||614440|REc|||| | ||
8.64|12|17|12|8p21.3|SH2D4A, SH2A, PPP1R38|P|SH2 domain-containing protein 4A||614968|REc|||| | ||
8.65|3|2|98|8p22|SLC7A2, ATRC2, HCAT2|P|Solute carrier family 7 (cationic amino acid transporter, y+ system),|member 2|601872|A|||| | ||
8.66|8|29|08|8p23.1|SOX7|P|SRY-box 7||612202|A, H|||| | |14(Sox7)|
8.67|11|18|11|8p22|TUSC3, M33, D8S1992, MRT7, MRT22|C|Tumor suppressor candidate 3||601385|REn, Fd|||Mental retardation, autosomal recessive 7, 611093 (3)| | ||
8.68|7|20|12|8p22|ASAH1, AC, SMAPME|P|N-acylsphingosine amidohydrolase (acid ceramidase) 1||613468|REc|||Farber lipogranulomatosis, 228000 (3); Spinal muscular atrophy|with progressive myoclonic epilepsy, 159950 (3) | ||
8.69|9|9|08|8p22|CNOT7, CAF1|P|CCR4-NOT transcription complex, subunit 7||604913|REc|||| | ||
8.70|6|11|09|8p22-p21.3|DFNB71|P|Deafness, autosomal recessive 71||612789|Fd|max lod at D8S261||Deafness, autosomal recessive 71 (2)| | ||
8.71|5|31|05|8p22|DLC1|P|Deleted in liver cancer 1||604258|A|||Colorectal cancer, somatic (3)| | ||
8.72|4|1|08|8p22|FGF20|C|Fibroblast growth factor-20||605558|REc|||| | ||
8.73|6|28|02|8p22|PCM1, PTC4|P|Pericentriolar material 1||600299|A, REn, Ch|fused with RET to form PTC4||Thyroid carcinoma, papillary, 188550 (3)| | ||
8.74|2|19|13|8p22|PDGFRL, PDGRL, PRLTS|P|Platelet-derived growth factor receptor-like||604584|REc|||Hepatocellular cancer, somatic, 114550 (3); Colorectal cancer,|somatic, 114500 (3) | ||
8.75|11|16|05|8p21.3|TNFRSF10B, DR5, TRAILR2|C|Tumor necrosis factor receptor superfamily, member 10B||603612|R, A|||Squamous cell carcinoma, head and neck, 275355 (3)| | ||
8.76|8|17|99|8p21.3|TNFRSF10C, DCR1, TRAILR3, TRID|P|Tumor necrosis factor receptor superfamily, member 10C||603613|R|||| | ||
8.77|1|12|99|8p21.2|PTK2B, FAK2, PYK2|P|Protein tyrosine kinase-2, beta (focal adhesion kinase 2)||601212|Psh, A|||| | ||
8.78|5|23|13|3p25.1|TPRXL|P|Tetrapeptide repeat homeobox-like||611167|REc|||| | ||
8.79|11|4|93|8p11.21|FNTA|P|Farnesyltransferase, CAAX box, alpha||134635|REa, Psh, A|related FNTAL1 on 11, FNTAL2 on 13||| | |8(Fnta)|
8.80|7|3|06|8p22-q11|MPD3|P|Myopathy, distal 3||610099|Fd|possible locus on 12q13-q22||Myopathy, distal 3 (2)| | ||
8.81|7|13|93|8p12|NRG1, HGL, HRGA, ARIA|C|Neuregulin 1 (heregulin, alpha, 45kD; ERBB2 p185-activator)||142445|Psh, A|||{?Schizophrenia, susceptibility to}, 603013 (1)| | |7(Nrg1)|
8.82|10|6|09|8p21.3|ATP6B1B2, ATP6B2, VPP3|P|ATPase, H+ transporting, lysosomal, V1 subunit B, isoform 2||606939|R, REc|||| | ||
8.83|10|6|09|8p21.3|BIN3|P|Bridging integrator 3||606396|R, REc|||| | ||
8.84|9|10|07|8p21.3|CHMP7|P|CHMP family, member 7||611130|REc|||| | ||
8.85|7|26|10|8p21.3|DOK2, P56DOK|P|Docking protein 2||604997|REc|||| | ||
8.86|6|11|13|8p21.3|FGF17, HH20|P|Fibroblast growth factor 17||603725|REc|||Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3)| | ||
8.87|12|4|03|8p21.3|LGI3|P|Leucine-rich gene, glioma-inactivated, 3||608302|R|||| | |14(Lgi3)|
8.88|7|22|11|8p21.3|MIR320A, MIRN320A|P|Micro RNA 320A||614112|REc|||| | ||
8.89|9|16|03|8p21.3|NPM2|P|Nucleophosmin/nucleoplasmin family, member 2||608073|REc|||| | |14(Npm2)|
8.90|12|19|08|8p21.3|PIWIL2, MILI|P|PIWI-like 2||610312|REc|||| | |14(Piwil2)|
8.91|7|1|05|8p21.3|REEP4, C8orf20|P|Receptor expression-enhancing protein 4||609349|R, REc|||| | ||
8.92|9|29|96|8p21.3|SLC18A1, VMAT1, VAT1, CGAT|P|Solute carrier family 18 (vesicular monoamine), member 1||193002|REa, A|||| | |19(Slc18a1)|
8.93|5|6|13|8p23.1|SLC35G5, AMAC, AMAC1L2|P|Solute carrier family 35, member G5||615199|REc|||| | ||
8.94|3|8|07|8p21.3|SORBS3, SCAM1, SH3D4|P|Sorbin and SH3 domains-containing 3||610795|REc|||| | ||
8.95|8|3|12|8p21.3|XPO7, RANBP16, KIAA0745|P|Exportin 7||606140|R, REc|||| | ||
8.96|2|4|02|8p21.3|LOXL2|P|Lysyl oxidase-like 2||606663|R, A|||| | ||
8.97|3|22|06|8p21.2|EBF2|P|Early B-cell factor 2||609934|R, REc|||| | ||
8.98|7|20|09|8p21.3|HR, AU, MUHH1|C|Hairless, mouse, homolog of||602302|H, R, Fd, LD|||Alopecia universalis, 203655 (3); Atrichia with papular lesions,|209500 (3); Hypotrichosis, hereditary, Marie Unna type, 1, 146550 (3) | |14(hr)|
8.99|12|28|08|8p21.3|PDLIM2, MYSTIQUE|P|PDZ and LIM domain protein 2||609722|REc|||| | ||
8.100|12|17|08|8p21.3|PEPB4, CORK1|P|Phosphatidylethanolamine-binding protein 4||612473|REc|||| | ||
8.101|5|6|03|8p21.3|RHOBTB2, DBC2, KIAA0717|C|Rho-related BTB domain-containing protein 2||607352|R, REc|||| | ||
8.102|11|21|02|8p12|LEPROTL1|P|Leptin receptor overlapping transcript-like 1||607338|R|||| | ||
8.103|5|7|09|8p21.1|ELP3, KAT9|P|Elongation protein 3, S. cerevisiae, homolog of||612722|REc|||| | ||
8.104|12|28|05|8p21.1|ESCO2|C|Establishment of cohesion 1, S. cerevisiae, homolog of, 2||609353|REc, Fd|||Roberts syndrome, 268300 (3); SC phocomelia syndrome, 269000 (3)| | ||
8.105|11|20|95|8p21.3|EPB49, DMT|P|Erythrocyte membrane protein band 49 (dematin)||125305|REa, A|||| | |14(Epb4.9)|
8.106|9|9|08|8p21.1|FBXO16, FBX16|P|F-box only protein 16||608519|REc|?8p12||| | |14(Fbxo16)|
8.107|10|23|87|8p12|GSR|C|Glutathione reductase||138300|S, D|||Hemolytic anemia due to glutathione reductase deficiency (1)| | |8(Gr1)|
8.108|8|4|97|8p21.1|GULOP, GULO|P|Gulonolactone (L-) oxidase pseudogene||240400|REb, A|||Scurvy (3)| | ||
8.109|8|19|13|8p21.1|PBK, TOPK|P|PDZ-binding kinase||611210|REc|||| | ||
8.110|12|10|13|8p21.1|SCARA5|P|Scavenger receptor class A, member 5||611306|REc|||| | ||
8.111|4|27|12|8p21.1-q13.3|SPG37|P|Spastic paraplegia 37||611945|Fd|max lod at D8S601||Spastic paraplegia 37, autosomal dominant (2)| | ||
8.112|9|14|92|8p21.2|ADRA1C|P|Adrenergic, alpha-1C-, receptor||104221|REc, Fd|.03cM from NEFL||| | ||
8.113|10|11|12|8p21.3|BMP1, OI13|C|Bone morphogenetic protein-1||112264|H, REa, A|1kb 3' to SFTP2||Osteogenesis imperfecta, type XIII, 614856 (3)| | |14(Bmp1)|
8.114|10|26|00|8p21.2|BNIP3L, NIX|P|BCL2/adenovirus E1B 19-kD protein-interacting protein 3-like||605368|A|||| | ||
8.115|8|28|06|8p21.2|CHRNA2|C|Cholinergic receptor, nicotinic, alpha polypeptide-2||118502|REa|||Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)| | |14(Acra2)|
8.116|5|6|03|8p21.3|DBC1, KIAA1967|P|Deleted in breast cancer 1||607359|REc|||| | ||
8.117|5|1|98|8p21.2|DPYSL2, DRP2, CRMP2|P|Dihydropyrimidinase-like 2||602463|TM|||| | ||
8.118|5|7|01|8p21.1|EXTL3, EXTR1|C|Exostosin-like 3||605744|R, Psh, A, REc|||| | ||
8.119|8|28|01|8p21.1|FZD3|C|Frizzled, Drosophila, homolog of, 3||606143|A|||| | |14(Fzd3)|
8.120|7|15|99|8p21.3|GFRA2, GDNFRB|P|GDNF family receptor alpha-2||601956|A|||| | |14(Gdnfrb)|
8.121|5|19|06|3p24-p21.2|TRICY1|P|Trichilemmal cyst 1||609649|Fd|max lod at D3S1277||Trichilemmal cyst 1 (2)| | ||
8.122|9|19|00|8p21.2|NEF3, NEFM, NFM|P|Neurofilament 3||162250|REn|||| | ||
8.123|5|28|03|8p21.2|NEFL, CMT2E, CMT1F|C|Neurofilament, light polypeptide||162280|REa, A, Fd|||Charcot-Marie-Tooth disease, type 2E, 607684 (3);|Charcot-Marie-Tooth disease, type 1F, 607734 (3) | |14(Nfl)|
8.124|2|6|08|8p21.2|NKX2-6, CSX2|P|NK2, Drosophila, homolog of, 6||611770|R|||Persistent truncus arteriosus, 217095 (3)| | ||
8.125|4|14|10|8p21.2|NKX3-1, NKX3A, BAPX2|P|NK3 homeo box 1||602041|A|||| | ||
8.126|10|18|96|8p21.1|PNOC, PPNOC|P|Prepronociceptin||601459|REc|||| | ||
8.127|9|5|02|8p21.1|SCARA3, MSLR1, CSR|P|Scavenger receptor class A, member 3||602728|REc|||| | ||
8.128|12|15|98|8p21|SCZD6|C|Schizophrenia susceptibility locus, chromosome 8p-related||603013|Fd|?neuregulin 1||{Schizophrenia}, 181500 (2)| | ||
8.129|5|21|07|8p21.3|SFTPC, SFTP2, SMDP2|C|Surfactant, pulmonary-associated protein C (pulmonary surfactant|apoprotein-2, SP-C)|178620|REa, A, Fd|||Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)| | |14(Sftp2)|
8.130|8|19|13|8p21.2|SLC25A37, MFRN, MFRN1|P|Solute carrier family 25 (mitochondrial iron carrier), member 37||610387|REc|||| | |14(Slc25a37)|
8.131|8|17|99|8p21.3|TNFRSF10A, DR4, TRAILR1, APO2|P|Tumor necrosis factor receptor superfamily, member 10A||603611|R|||| | ||
8.132|8|17|99|8p21.3|TNFRSF10D, DCR2, TRAILR4|P|Tumor necrosis factor receptor superfamily, member 10D||603614|R|||| | ||
8.133|3|30|00|8p21.1|CLU, CLI, SGP2, TRPM2|C|Clusterin (complement lysis inhibitor, SP-40,40; sulfated glycoprotein|2; testosterone-repressed prostate message-2; apolipoprotein J)|185430|REa, REb, A, RE|||| | |14(Sgp2, Clu)|
8.134|5|26|05|8p21.2-p21.1|EPHX2|P|Epoxide hydrolase 2, cytoplasmic||132811|A|||{Hypercholesterolemia, familial, due to LDLR defect, modifier of},|143890 (3) | |14(Ephx2)|
8.135|3|14|96|8p12|GTF2E2|P|General transcription factor IIE, polypeptide 2, beta subunit, 34kD||189964|REc|||| | ||
8.136|9|28|12|8p21.2|GNRH1, LNRH, HH12|P|Gonadotropin-releasing hormone-1 (leutinizing-releasing hormone)||152760|REa, A|||Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3)| | |14(Gnrh)|
8.137|1|7|99|8p21.2|STC1, STC|P|Stanniocalcin 1||601185|A|||| | ||
8.138|10|29|02|8p21.2|ADAM7|P|A disintegrin and metalloproteinase domain 7||607310|REc|||| | ||
8.139|10|29|02|8p21.2|ADAM28, MDCL|C|A disintegrin and metalloproteinase domain 28||606188|REc|||| | ||
8.140|2|28|03|8p21.2|ADAMDEC1, DECYSIN|P|A disintegrin and metalloproteinase domain-like protein decysin 1||606393|REn|||| | ||
8.141|6|19|98|8p11.23|EIF4EBP1, 4EBP1|P|Eukaryotic translation initiation factor-4E binding protein-1||602223|A|||| | |8(Eif4ebp1)|
8.142|9|23|08|8p11.23|GPR124, TEM5, KIAA1531|P|G protein-coupled receptor 124||606823|R, REc|||| | ||
8.143|8|18|08|8p11.21|IDO2, INDOL1|P|Indoleamine 2,3-dioxygenase 2||612129|REc|||| | ||
8.144|7|20|12|8p12|KIF13B, GAKIN, KIAA0639|P|Kinesin family member 13B||607350|R|||| | ||
8.145|4|15|08|8p12|MBOAT4, GOAT|P|Membrane-bound O-acetyltransferase domain-containing 4||611940|REc|||| | ||
8.146|10|28|08|8p11.21|PLAT, TPA|C|Plasminogen activator, tissue type||173370|REa, A, REb|||Thrombophilia, familial, due to decreased release of PLAT, 612348|(1); Hyperfibrinolysis, familial, due to increased release of PLAT, 612348 (1) | |8(Plat)|
8.147|12|1|06|8p11.23|PPAPDC1B, HTPAP|P|PPAP2 domain-containing protein 1B||610626|REc|||| | ||
8.148|3|1|12|8p12|THPH9|L|Thrombophilia due to decreased release of tissue plasminogen|activator|612348|LD|||?Thrombophilia due to decreased release of tissue plasminogen (1)| | ||
8.149|8|21|12|8p12|TMEM66, SARAF|P|Transmembrane protein 66||614768|REc|||| | ||
8.150|11|22|13|8p12|TTI2, C8orf41, MRT39|P|TELO2-interacting protein 2||614426|REc|||Mental retardation, autosomal recessive 39, 615541 (3)| | ||
8.151|7|1|02|8p11.23|WHSC1L1, NSD3|P|Wolf-Hirschhorn syndrome candidate 1-like 1||607083|A, Ch|pseudogene on 17q21; fusion partner with NUP98 in AML||Leukemia, acute myeloid, 601626 (3)| | ||
8.152|6|1|05|8p11.23|ADRB3|P|Adrenergic, beta-3-, receptor||109691|A|||{Obesity, susceptibility to}, 601665 (3)| | |8(Adrb3)|
8.153|7|13|93|8p12|PPP2CB|C|Protein phosphatase-2 (formerly 2A), catalytic subunit, beta isoform||176916|Psh, A, REc|pseudogene on 16||| | ||
8.154|8|12|03|8p12|RECQL2, RECQ3, WRN|C|DNA helicase, RecQ-like 2||604611|Fd, LD|||Werner syndrome, 277700 (3)| | |8(wrn)|Ruprecht (1989); Goto (1992)
8.155|3|29|10|8p12|UBXN8, D8S2298E, REP8|P|UBX domain protein 8||602155|A|||| | ||
8.156|10|22|99|8p11.21|SFRP1, FRP, SARP2|P|Secreted frizzled-related protein 1||604156|R, A|||| | ||
8.157|9|10|09|8p12|DCTN6, WS3, P27|P|Dynactin 6||612963|A, Psh|||| | ||
8.158|11|20|98|8p12|DUSP4, MKP2, HVH2|P|Dual-specificity phosphatase-4 (MAP kinase phosphatase-2)||602747|A|||| | ||
8.159|9|9|08|8p11.21|IDO1, INDO, IDO|C|Indoleamine 2,3-dioxygenase||147435|Psh, REa, A|||| | ||
8.160|1|20|09|8p12|RBPMS|P|RNA-binding protein gene with multiple splicing||601558|REc|||| | ||
8.161|6|4|07|8p12-q22|AD12|P|Alzheimer disease 12||611073|Fd|max lod at D8S1119||{Alzheimer disease 12} (2)| | ||
8.162|12|29|06|8p11.23|RAB11FIP1, RCP|P|RAB11 family-interacting protein 1||608737|REc|||| | ||
8.163|8|19|13|8p11.22|TM2D2, BLP1|P|TM2 domain-containing protein 2||610081|R, REc|||| | ||
8.164|10|15|09|8p11.22|ADAM9, MDC9, MCMP, CORD9|P|A disintegrin and metalloproteinase domain 9||602713|REc|||Cone-rod dystrophy 9, 612775 (3)| | ||
8.165|11|29|12|8p11.23|BAG4, SODD|P|Bcl2-associated athanogene 4||603884|REc|||| | ||
8.166|10|6|09|8p11.23|BRF2, BRFU, TFIIIB50|P|BRF2 subunit of RNA polymerase III transcription initiation factor||607013|R, REc|||| | ||
8.167|1|29|13|8p11.23|DDHD2, KIAA0725, SPG54|P|DDHD domain-containing protein 2||615003|REc|||Spastic paraplegia 54, autosomal recessive, 615033 (3)| | ||
8.168|1|16|07|8p11.22|HTRA4|P|HTRA serine peptidase 4||610700|REc|||| | ||
8.169|5|6|13|8p11.23|KCNU1, SLO3|P|Potassium channel, subfamily U, member 1||615215|REc|||| | ||
8.170|8|6|13|8p11.23|LSM1|P|LSM1 protein||607281|R, REc|||| | ||
8.171|6|9|08|8p11.21|AGPAT6, LPAATZ|P|1-acylglycerol-3-phosphate O-acyltransferase 6||608143|REc|||| | ||
8.172|5|5|10|8p11.21|CHRNA6|P|Cholinergic receptor, neuronal nicotinic, alpha polypeptide 6||606888|REc|||| | ||
8.173|11|30|06|8p11.21|GINS4, SLD5|P|GINS complex subunit 4||610611|R, REc|||| | ||
8.174|7|7|09|8p11.21|HOOK3, HK3|P|Hook, Drosophila, homolog of, 3||607825|REc|||| | ||
8.175|12|27|13|8p11.21|SLC20A2, MLVAR, GLVR2, IBGC1|C|Solute carrier family 20, phosphate transporter, member 2|(murine leukemia virus, amphotropic, receptor for)|158378|S, REa|||Basal ganglia cancification, idiopathic, 1, 213600 (3)| | ||
8.176|5|14|09|8p11.21|THAP1, DYT6|P|THAP domain-containing protein 1||609520|REc|||Dystonia 6, torsion, 602629 (3)| | ||
8.177|2|20|07|8p11.21|NKX6-3, NKX6.3|P|NK6, Drosophila, homolog of||610772|REc|||| | |8(Nkx6-3)|
8.178|11|16|05|8p11.22|ADAM2, FTNB, PH30, CRYN1, CRYN2|C|A disintegrin and metalloproteinase domain 2 (fertilin, beta)||601533|A, H|||| | |14(Ftnb)|
8.179|3|11|09|8p11.21|ANK1, SPH2|C|Ankyrin-1, erythrocytic||612641|F, Ch, D, REa, A, Fd, REb|||Spherocytosis, type 1, 182900 (3)| | |8(nb)|
8.180|5|24|13|8p11.21|AP3M2, CLA20|P|Adaptor-related protein complex 3, mu-2 subunit||610469|A|||| | ||
8.181|1|29|01|8p11.23|ASH2L, ASH2L2, ASH2L1|P|ASH2, Drosophila, homolog of||604782|REc|||| | ||
8.182|5|7|03|8p11.21|C8orf4, TC1|P|Thyroid cancer 1||607702|A|||| | ||
8.183|6|10|94|8p11.21|CHRNB3|C|Cholinergic receptor, nicotinic, beta polypeptide-3||118508|REa, A|||| | ||
8.184|4|27|12|8p11.23|ERLIN2, SPFH2, C8orf2, SPG18|P|Endoplasmic reticulum lipid raft-associated protein 2||611605|REc|||Spastic paraplegia 18, autosomal recessive, 611225 (3)| | ||
8.185|1|7|14|8p11.21|IKBKB, NFKBIKB, IMD15|C|Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase|of, beta|603258|A, R|||Immunodeficiency 15, 615592 (3)| | ||
8.186|3|8|95|8p11.21|POLB|C|Polymerase (DNA directed), beta||174760|REa, Fd, A|||| | |8(Polb)|
8.187|5|4|00|8p11.23|PROSC|P|Proline synthetase cotranscribed, bacteria, homolog of||604436|REn|||| | ||
8.188|5|29|12|8p11.21|RNF170, SNAX1|P|RING finger protein 170||614649|REc|||Ataxia, sensory, 1, autosomal dominant, 608984 (3)| | ||
8.189|2|12|96|8p11.23|STAR|P|Steroidogenic acute regulatory protein||600617|REa, A|||Lipoid adrenal hyperplasia, 201710 (3)| | ||
8.190|4|19|06|8p11.21|VDAC3|P|Voltage-dependent anion channel 3||610029|A, H|||| | |8(Vdac3)|
8.191|11|20|95|8q11.21|CEBPD|C|CCAAT/enhancer-binding protein (C/EBP), delta||116898|A, REa|earlier mapped to 8q11||| | |16(Cebpd)|
8.192|3|3|03|8p11.21|DKK4|P|Dickkopf, Xenopus, homolog of, 4||605417|A|||| | ||
8.193|10|15|13|8p11.23-p11.22|FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS|C|Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2)||136350|REa, A|fused with BCR, CEP1, FOP, FIM in hematologic malignancies||Pfeiffer syndrome, 101600 (3); Jackson-Weiss syndrome, 123150 (3);|Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3); Osteoglophonic dysplasia, 166250 (3); Trigonocephaly 1, 190440 (3);|Hartsfield syndrome, 615465 (3) ||
8.194|2|2|11|8p11.21|HGSNAT, TMEM76, MPS3C|C|Heparan-alpha-glucosaminide N-acetyltransferase||610453|Fd, REc|||Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)| | ||
8.195|2|21|06|8p11.21|MYST3, MOZ, ZNF220|C|Histone acetyltransferase MYST3||601408|Ch|||| | ||
8.196|1|13|11|8p11|SCLL|P|Chromosome 8p11 myeloproliferative syndrome (stem cell|leukemia/lymphoma)|613523|Ch|translocation of FGFR1 (8p11) and various partners||Chromosome 8p11 myeloproliferative syndrome (4)| | ||
8.197|5|31|13|8p11.21|SGK196, MDDGA12|P|Protein kinase-like protein SGK196||615247|REc|1 MDDGA12 family identified with mutation||?Muscular dystrophy-dystroglycanopathy (congenital with brain and|eye anomalies), type A, 12, 615249 (3) | ||
8.198|1|31|01|8p11.22|TACC1|P|Transforming, acidic, coiled-coil-containing protein-1||605301|REc|||| | ||
8.199|11|30|00|8p23.3|DLGAP2, DAP2|P|Discs large associated protein 2||605438|REc, R|||| | ||
8.200|6|15|99|8q|CCAL1|P|Chondrocalcinosis 1||600668|Fd|||Chondrocalcinosis with early-onset osteoarthritis (2)| | ||
8.201|11|13|07|8q|HBFQTL4|C|Fetal hemoglobin quantitative trait locus 4||606789|Fd|||Fetal hemoglobin quantitative trait locus 4 (2)| | ||
8.202|10|23|87|8q|GPB|C|Glycerol phosphatase, beta-||109640|S|||| | ||
8.203|10|20|99|8q21.11|RPL7|P|Ribosomal protein L7||604166|REa, R|pseudogene on chr.5||| | ||
8.204|10|20|99|8q24.3|RPL8|P|Ribosomal protein L8||604177|REa, R|||| | ||
8.205|8|17|99|8q12.1|RPS20|P|Ribosomal protein S20||603682|REa, R|||| | ||
8.206|12|14|00|8q24.13|ZHX1|P|Zinc finger and homeodomain protein 1||604764|REa, R|||| | ||
8.207|7|13|93|8q12.1|MOS|C|Oncogene MOS, Moloney murine sarcoma virus||190060|REa, A, REb|||| | |4(Mos)|
8.208|9|18|08|8q11.21|PRKDC, HYRC1, DNPK1|C|Protein kinase, DNA-activated, catalytic polypeptide|(hyperradiosensitivity of murine SCID mutation, complementing-1)|600899|C, A|||| | |16(scid)|
8.209|2|20|03|8q11.23|RB1CC1, CC1, KIAA0203|C|RB1-inducible coiled-coil 1||606837|R|||Breast cancer, somatic, 114480 (3)| | ||
8.210|1|21|11|8q11.21|SNAI2, SLUG, WS2D|P|snail, Drosophila, homolog of, 2|(Neural crest transcription factor SLUG)|602150|Psh, R|||Waardenburg syndrome, type 2D, 608890 (3); Piebaldism, 172800 (3)| | |16(Slug)|
8.211|11|30|06|8q11.21|SNTG1, SYN4|P|Syntrophin, gamma-1||608714|REc, R|implicated in idiopathic scoliosis||| | ||
8.212|2|21|06|8q12.1|TGS1, NCOA6IP, PIMT|P|Trimethylguanosine synthase, S. cerevisiae, homolog of||606461|REc|||| | ||
8.213|2|21|10|8q12.1|CA8, CALS, CARP, CAMRQ3|P|Carbonic anhydrase VIII||114815|REa, A|||Cerebellar ataxia and mental retardation with or without|quadrupedal locomotion 3, 613227 (3) | |4(Car)|
8.214|10|7|02|8q24.3|CHARC1, CHARC15, YCL1|P|Chromatin accessibility complex, subunit 1||607268|REc|||| | ||
8.215|11|19|98|8q12.1|CYP7A1, CYP7|P|Cytochrome P450, subfamily VII (cholesterol 7-alpha-monooxygenase),|polypeptide 1|118455|REa, A|||| | ||
8.216|1|21|04|8q12.1|RP1, ORP1|C|Oxygen-regulated photoreceptor protein-1 (retinitis pigmentosa-1)||603937|Fd, R, A|||Retinitis pigmentosa 1, 180100 (3); {Hypertriglyceridemia,|susceptibility to}, 145750 (3) | ||
8.217|11|28|12|8q11.21|MCM4, NKGCD, NKCD|C|Minichromosome maintenance deficient, S. cerevisiae, homolog of, 4||602638|A, Fd|||Natural killer cell and glucocorticoid deficiency with DNA repair|defect, 609981 (3) | ||
8.218|3|18|94|8q11.23|OPRK1|C|Opiate receptor, kappa-1||165196|REa, A|||| | ||
8.219|9|9|13|8q11.21|SPIDR, KIAA0146|P|Scaffolding protein involved in DNA repair||615384|REc|||| | ||
8.220|6|13|12|8q11.21|UBE2V2, UEV2, DDVIT1, EDPF1, MMS2|P|Ubiquitin-conjugating enzyme E2 variant 2||603001|REc|||| | ||
8.221|2|11|11|8q11.23|NPBWR1, GPR7|P|Neuropeptides B and W receptor 1||600730|A, REc|previously assigned to 10q11.2-q21.1 by FISH||| | ||
8.222|12|15|98|8q11.23|TCEA1, TF2S, GTF2S|P|Transcription elongation factor A, SII, 1||601425|REa, A|previously mapped to 3p22-p21.3||| | ||
8.223|2|26|08|8q11.23|MRPL15|P|Mitochondrial ribosomal protein L15||611828|R|||| | ||
8.224|4|28|10|8q11.2-q13.2|GCCD3, FGD3, GCCD2|P|Glucocorticoid deficiency 3||609197|Fd|between D8S285 and D8S1718||Glucocorticoid deficiency 3 (2)| | ||
8.225|4|1|03|8q11.1-q13.3|PAFC|L|Preauricular fistulae, congenital||128700|Fd|between D8S532 and D8S279||?Preauricular fistulae, congenital (2)| | ||
8.226|7|23|07|8q12.1|CHCHD7|P|Coiled-coil-helix-coiled-coil-helix domain-containing protein 7||611238|REn|||| | ||
8.227|2|10|04|8q12.1|PLAG1, SGPA, PSA|C|Pleomorphic adenoma gene 1||603026|REc, A|fused with CTNNB1 in SGPA||Adenomas, salivary gland pleomorphic, 181030 (3)| | ||
8.228|4|10|90|8q21.12|IL7|P|Interleukin-7||146660|REa, A|||| | ||
8.229|8|20|07|8q12-q13|MTBS2|P|Mycobacterium tuberculosis, susceptibility to, 2||611046|Fd|max lod at D8S1723||{Mycobacterium tuberculosis, susceptibility to, 2} (2)| | ||
8.230|10|24|00|8q12.1|NSMAF, FAN|P|Neutral sphingomyelinase activation-associated factor||603043|A|||| | ||
8.231|12|21|10|8q11.23|SOX17, VUR3|P|SRY-box 17||610928|REc|||Vesicoureteral reflux 3, 613674 (3)| | ||
8.232|2|18|09|8q12.1|ANIB10|P|Aneurysm, intracranial berry, 10||612587|Fd|associated with rs10958409||{Aneurysm, intracranial berry, 10} (2)| | ||
8.233|3|19|01|8q12.3|ASPH, HAAH|C|Aspartate beta-hydroxylase (junctin; junctate)||600582|REc, A|||| | ||
8.234|9|28|12|8q12.1-q12.2|CHD7, IS3, HH5|C|Chromodomain helicase DNA binding protein 7||608892|R, REc|||CHARGE syndrome, 214800 (3); {Scoliosis, idiopathic 3}, 608765 (3);|Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3) | ||
8.235|7|22|11|8q12.1|IMPAD1, GPAPP, IMPA3|P|Inositol monophosphatase domain-containing protein 1||614010|REc|||Chondrodysplasia with joint dislocations, GRAPP type, 614078 (3)| | ||
8.236|1|5|07|8q12.1|LOC137886, p37|P|LOC137886 gene||610686|REc|||| | ||
8.237|2|28|03|8q12.1|RAB2, RAB2A|P|Ras-associated protein RAB2||179509|REc|||| | ||
8.238|5|24|13|8q12.3|RLBP1L1, CRALBPL|P|Retinaldehyde-binding protein 1-like 1||611292|REc|||| | ||
8.239|11|2|04|8q12.1|RDHE2|P|Retinal dehydrogenase, epidermal, 2||608989|REc|||| | ||
8.240|3|22|13|8q12.1|TOX, KIAA0808|P|Thymus high mobility group box protein, mouse, homolog of||606863|R, REc|||| | ||
8.241|5|4|12|8q12.2-q21.2|DEL8q12q21, C8DELq12q21|P|Bor-Duane hydrocephalus contiguous gene syndrome (chromosome|8q12.1-q21.2 deletion syndrome)|600257|Ch|||Bor-Duane hydrocephalus contiguous gene syndrome (4)| | ||
8.242|7|16|09|8q12.3|NKAIN3|P|Na+/K+ transporting ATPase-interacting 3||612872|REc|||| | |4(Nkain3)|
8.243|2|22|13|8q12.2-q21.2|HDCPH1|L|Hydrocephalus, autosomal dominant||123155|Ch|||?Hydrocephalus, autosomal dominant (2)| | ||
8.244|7|18|06|8q12.3|GGH|P|Gamma-glutamyl hydrolase||601509|REc|||| | ||
8.245|5|24|13|8q13.1|SGK3, SGKL, CISK|P|Serum/glucocorticoid-regulated kinase 3||607591|R|||| | ||
8.246|8|31|99|8q13.2|ARFGEF1, ARFGEP1, BIG1, P200|P|ADP-ribosylation factor guanine nucleotide exchange factor 1||604141|R|||| | ||
8.247|9|30|10|8q12.3|BHLHE22, BHLHB5, BETA3|P|Basic helix-loop-helix family, member E22||613483|A, H|||| | |3(Bhlhe22)|
8.248|1|18|12|8q13.2|CPA6, CPAH, ETL5, FEB11|P|Carboxypeptidase A6||609562|REc|||Epilepsy, familial temporal lobe, 5, 614417 (3); Febrile seizures,|familial, 11, 614418 (3) | ||
8.249|9|3|09|8q13.1|CRH|C|Corticotropin releasing hormone||122560|REa, A|||| | |3(Crh)|
8.250|10|29|10|8q13|DEL8q13, C8DELq13|P|Mesomelia-synostoses syndrome (Chromosome 8q13 deletion syndrome)||600383|REc|contiguous gene deletion of SULF1 and SLCO5A1||Mesomelia-synostoses syndrome (4)| | ||
8.251|8|9|99|8q13|DURS1, DUS|C|Duane retraction syndrome 1||126800|Ch|||Duane retraction syndrome 1 (2)| | ||
8.252|9|2|08|8q13.1|SNHG6, U87HG|P|Small nucleolar RNA host gene 6||612215|R, REc|||| | ||
8.253|6|29|98|8q21.11|TERF1, TRF1|P|Telomeric repeat binding factor 1||600951|A, Psh|||| | |17(Trf1)|
8.254|9|2|08|8q13.1|SNORD87, U87|P|Small nucleolar RNA, C/D box, 87||612216|REc|within intron 2 of SNHG6||| | ||
8.255|1|31|13|8q13.3|TRPA1, ANKTM1, FEPS|P|Transient receptor potential cation channel, subfamily A, member 1|(ankyrin-like protein with transmembrane domains 1)|604775|A|||Episodic pain syndrome, familial, 615040 (3)| | ||
8.256|1|22|08|8q13.1|VCPIP1 VCIP135, KIAA1850|P|VCP/p47 complex-interacting protein 1||611745|R, REc|||| | ||
8.257|8|9|05|8q13-q21|FEB1|P|Febrile seizures, familial, 1||121210|Fd|||Febrile seizures, familial, 1 (2)| | ||
8.258|2|18|96|8q22.1|GEM|P|GTP-binding protein overexpressed in skeletal muscle||600164|Fd|||| | |4(Gem)|
8.259|5|14|01|8q21.11|STAU2|P|Staufen, Drosophila, homolog of, 2||605920|REc|||| | ||
8.260|11|3|11|8q21.11|UBE2W, UBC16|P|Ubiquitin-conjugating enzyme 2W||614277|REc|||| | ||
8.261|10|13|94|8q13.1|PDE7A, HCP1|P|Phosphodiesterase-7A||171885|REa|||| | ||
8.262|8|22|90|8q12.1|LYN|P|Yamaguchi sarcoma viral (v-yes-1) related oncogene homolog||165120|REa|||| | |4(Lyn)|
8.263|8|21|07|8q13.1|ADHFE1, HOT, ADH8|C|Alcohol dehydrogenase, iron-containing, 1||611083|REc|||| | ||
8.264|5|23|11|8q13.1|DNAJC5B|P|DNAJ/HSP40 homolog, subfamily C, emmber 5, beta||613945|REc|||| | ||
8.265|2|5|13|8q13.1|TRIM55, RNF29, MURF2|P|Tripartite motif containing 55||606469|REc, R|||| | ||
8.266|10|10|11|8q13.2|PREX2, DEPDC2|C|Phosphatidylinositol 3,4,5-trisphosphate-dependent RAC exchanger 2||612139|REc|||| | ||
8.267|12|11|95|8q12.3|TTPA, TTP1, AVED|C|Tocopherol, alpha, transfer protein||600415|Fd, LD, REc, A, REa|||Ataxia with isolated vitamin E deficiency, 277460 (3)| | ||
8.268|6|13|12|8q13.1|COPS5, JAB1, SGN5|P|COP9, subunit 5||604850|REc|||| | ||
8.269|12|18|07|8q13.1-q13.2|CSPP1, CSPP|P|Centrosome spindle pole-associated protein 1||611654|REc|||| | ||
8.270|9|7|10|8q13.3|NCOA2, GRIP1, TIF2, SRC2|P|Nuclear receptor coactivator 2||601993|fused with MOZ in AML|||| | ||
8.271|5|8|12|8q13.3|EYA1, BOR, BOS1, OFC1|C|Eyes absent, Drosophila, homolog of, 1||601653|REc, Fd, Ch|mutation identified in 1 OFC1 family||Branchiootorenal syndrome 1, with or without cataracts, 113650 (3);|Anterior segment anomalies with or without cataract, 113650 (3); Branchiootic syndrome 1, 602588 (3); ?Otofaciocervical syndrome,|166780 (3) ||Haan (1989); Kumar (1992)
8.272|10|7|13|8q24.13|NDUFB9, UQOR22|P|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)||601445|REc|mutation identified in 1 family||?Mitochondrial complex I deficiency, 252010 (3)| | ||
8.273|2|11|08|8q13.3|PRDM14, PFM11|P|PR domain-containing protein 14||611781|A|||| | ||
8.274|5|19|06|8q13.2-q13.3|SULF1, KIAA1077|C|Sulfatase 1||610012|REc|||| | |1(Sulf1)|
8.275|11|27|13|8p21.3|POLR3D, BN51T, TSBN51|P|Polymerase III, RNA, subunit D||187280|REa, A|||| | ||
8.276|3|8|00|8q21.3|C8orf1|P|Chromosome 8 open reading frame 1||604598|REc|||| | ||
8.277|12|8|00|8q21.11|JPH1, JP1|P|Junctophilin 1||605266|A|||| | ||
8.278|9|18|08|8q21.3|CNGB3, ACHM3, ACHM1|C|Cyclic nucleotide-gated channel, beta-3||605080|REc, Fd|||Achromatopsia-3, 262300 (3); Macular degeneration, juvenile, 248200|(3) | ||
8.279|11|10|06|8q21-q22|OPA6|P|Optic atrophy 6||258500|Fd|between D8S1702 and D8S1794||Optic atrophy 6 (2)| | ||
8.280|12|14|06|8q24.3|CYP11B1, P450C11, FHI|C|Cytochrome P450, subfamily XIB, polypeptide 1 (11-beta-hydroxylase;|corticosteroid methyl-oxidase II (CMO II))|610613|REa, A, Ch|chimeric CYP11B1/CYP11B2 gene = anti-Lepore-like||Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase|deficiency, 202010 (3); Aldosteronism, glucocorticoid-remediable, 103900 (3) | ||White (1991)
8.281|12|14|06|8q24.3|CYP11B2|C|Cytochrome P450, subfamily XIB, polypeptide 2||124080|REa|||Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3);|Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3); {Low renin hypertension, susceptibility to} (3); Aldosterone to renin ratio|raised (3) ||Lifton (1992); Mitsuuchi (1992)
8.282|6|19|98|8q21.13|FABP4|P|Fatty acid-binding protein-4, adipocyte||600434|A|||| | ||
8.283|10|7|09|8q21.11|HNF4G|P|Hepatocyte nuclear factor 4-gamma||605966|Psh, REc|||| | |3(Hnf4g)|
8.284|3|2|98|8q21.3|MMP16|C|Matrix metalloproteinase 16 (membrane-inserted)||602262|A|||| | ||
8.285|12|5|13|8q21.3|NBS1, NBS|C|Nibrin||602667|Fd, M|||Nijmegen breakage syndrome, 251260 (3); Aplastic anemia, 609135 (3);|Leukemia, acute lymphoblastic, 613065 (3) | ||
8.286|5|25|13|8q21.13|TPD52, D52|P|Tumor protein D52||604068|A|||| | ||
8.287|8|24|09|8q21.3|WWP1, TIUL1|P|WW domain-containing protein 1||602307|A|||| | ||
8.288|10|25|12|8q21.11|PXMP3, PAF1, PMP35, PEX2, PBD5A, PBD5B|C|Peroxisomal membrane protein-3, 35kD||170993|RE|||Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3);|Peroxisome biogenesis disorder 5B, 614867 (3) | |3(Pxmp3)|
8.289|4|24|08|8q21.13|MRPS28, MRPS35|P|Mitochondrial ribosomal protein S28||611990|R, REc|||| | ||
8.290|10|23|87|8q21.1-qter|GLYB|P|Glycine auxotroph B, complementation of hamster||138480|S|gly(-)B||| | ||
8.291|9|21|11|8q21.11|DEL8q21.11, C8DELq21.11|P|Chromosome 8q21.11 deletion syndrome||614230|Ch|contiguous gene deletion; minimal region (GRCh37, 8:77226464-77766239||Chromosome 8q21.11 deletion syndrome (4)| | ||
8.292|8|29|13|8q21.11|GDAP1, CMT4A, CMT2K, CMTRIA|C|Ganglioside-induced differentiation-associated protein 1||606598|Fd, REc|||Charcot-Marie-Tooth disease, type 4A, 214400 (3); Charcot-Marie-Tooth|disease, axonal, with vocal cord paresis, 607706 (3); Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3); Charcot-Marie-Tooth disease, recessive|intermediate, A, 608340 (3) ||
8.293|5|30|13|8q21.11|LY96, MD2|P|Lymphocyte antigen 96||605243|REc|||| | ||
8.294|7|1|11|8q21.11|TMEM70, MC5DN2|P|Transmembrane protein 70||612418|REc|||Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2,|614052 (3) | ||
8.295|4|23|12|8q21.13|CHMP4C, SNF7-3|P|CHMP family, member 4C||610899|REc|||| | ||
8.296|6|11|02|8q21.11|ZFHX4, ZFH4|P|Zinc finger homeobox 4||606940|H, Ch|||?Ptosis, congenital, 178300 (2)| | ||
8.297|10|6|09|8q21.13|FABP5, PAFABP, EFABP|P|Fatty acid-binding protein 5||605168|H, REc|||| | |3(Fabp5)|
8.298|12|10|12|8q21.13|SNX16|P|Sorting nexin 16||614903|REc|||| | ||
8.299|5|4|12|8q21.13|STMN2, SCGN10, SCG10|P|Stathmin-like 2||600621|R, REc|||| | ||
8.300|2|17|09|8q21.13|STQTL15|P|Stature quantitative trait locus 15||612578|Fd|associated with rs2220456||{Stature QTL 15} (2)| | ||
8.301|6|9|98|8q21.13|IMPA1|P|Inositol(myo)-1(or 4)-monophosphatase-1||602064|Psh, REc|||| | ||
8.302|9|7|10|8q22.1|TMEM67, MKS3, JBTS6, NPHP11|C|Transmembrane protein 67 (meckelin)||609884|Fd, REc|||Meckel syndrome 3, 607361 (3); Joubert syndrome 6, 610688 (3);|{Bardet-Biedl syndrome 14, modifier of}, 209900 (3); COACH syndrome, 216360 (3); Nephronophthisis 11, 613550 (3)| ||
8.303|5|18|12|8q21.2|RALYL|P|RALY-like protein||614648|REc|||| | ||
8.304|3|12|07|8q22.3|SLC25A32, MFT|P|Solute carrier family 25 (mitochondrial carrier, folate), member 32||610815|REc|||| | |15(Slc25a32)|
8.305|3|22|06|8q21.3|TMEM55A|P|Transmembrane protein 55A||609864|REc|||| | ||
8.306|10|6|09|8q21.3|CPNE3, CPN3|P|Copine III||604207|R, REc|||| | ||
8.307|4|25|12|8q12.3|CYP7B1, CBAS3, SPG5A|C|Cytochrome P450, subfamily VIIB (oxysterol 7-alpha-hydroxylase),|polypeptide 1|603711|R, Fd|||Bile acid synthesis defect, congenital, 3, 613812 (3); Spastic|paraplegia 5A, autosomal recessive, 270800 (3) | ||
8.308|5|28|98|8q21.3|DECR1|P|2,4-dienoyl CoA reductase||222745|A|||?DECR deficiency (2)| | ||
8.309|3|4|08|8q21.3|FAM82B, RMD1|P|Family with sequence similarity 82, member B||611871|REc|||| | ||
8.310|6|5|08|8q21.3|OTUD6B, DUBA5|P|OTU domain-containing protein 6B||612021|REc|||| | ||
8.311|12|5|13|8q22.1|RAD54B|P|RAD54, S. cerevisiae, homolog of, B||604289|A|||Lymphoma, non-Hodgkin, somatic, 605027 (3); Colon cancer, somatic,|114500 (3) | ||
8.312|9|13|99|8q21.3|CALB1|P|Calbindin 1, 28kD||114050|REa, A|||| | |4(Calb)|
8.313|10|4|93|8q21.13|PMP2|C|Peripheral myelin protein-2||170715|REb, A|not involved in CMT4A||| | ||
8.314|6|28|99|8q23.1|ANGPT1, ANG1|C|Angiopoietin-1||601667|A, R, H|||| | |15(Angpt1)|
8.315|10|13|94|8q21.2|CA1|C|Carbonic anhydrase I||114800|REa, H, A|||| | |3(Car1)|
8.316|10|3|07|8q21.2|CA2|C|Carbonic anhydrase II||611492|REa, H|CA1, CA2 linked in monkey and mouse||Osteopetrosis, autosomal recessive 3, with renal tubular acidosis,|259730 (3) | |3(Car2)|
8.317|6|4|90|8q21.2|CA3|C|Carbonic anhydrase III||114750|REa, A|||| | |3(Car3)|
8.318|4|14|10|8q22.3|DPYS, DHP|P|Dihydropyrimidinase||613326|A|||Dihydropyrimidinuria, 222748 (3)| | ||
8.319|5|26|09|8q22.3|GRHL2, TFCP2L3, DFNA28|P|Grainyhead-like 2||608576|REc|||Deafness, autosomal dominant 28, 608641 (3)| | ||
8.320|6|30|05|8q22.2|HRSP12, PSP, UK114|P|Heat-responsive protein 12||602487|REc|||| | ||
8.321|1|25|05|8q22|ITC1|L|Hypertrichosis universalis congenita, Ambras type||145701|Ch|||?Hypertrichosis universalis congenita, Ambras type (2)| | ||
8.322|11|20|98|8q22.2|KCNS2|P|Potassium voltage-gated channel, delayed-rectifier, subfamily S,|member-2|602906|REc|||| | ||
8.323|1|23|01|8q22.1-q22.2|MATN2|P|Matrilin 2||602108|A|||| | ||
8.324|9|19|91|8q13.1|MYBL1|P|Avian myeloblastosis viral (v-myb) oncogene homolog like-1||159405|REa, A|||| | ||
8.325|11|27|94|8q22.3|ODF1|P|Outer dense fiber of sperm tails 1||182878|REa, A|||| | |15(Odf1)|
8.326|5|26|09|8q22.1|PTDSS1, PSS1, KIAA0024|C|Phosphatidylserine synthase 1||612792|Psh, H, REc|||| | |13(Pss1)|
8.327|4|24|12|8q21.3|RUNX1T1, CBFA2T1, AML1T1, ETO|P|unt-related transcription factor 1, translocated to, 1, cyclin|D-related|133435|Ch|fused with AML1 in t(8;21)||| | |4(Cbfa2t1h)|
8.328|1|28|01|8q22.1|TP53DINP1, P53DINP1|P|Tumor protein p53 inducible nuclear protein 1||606185|A|||| | ||
8.329|5|4|00|8q22.3|PABPC1, PAB1, PABP1, PABP|P|Polyadenylate-binding protein, cytoplasmic, 1||604679|Psh|||| | ||
8.330|11|11|13|8q22.2|SPAG1, CILD28|P|Sperm-associated antigen-1||603395|R|||Ciliary dyskinesia, primary, 28, 615505 (3)| | ||
8.331|5|19|06|8q22.3|TM7SF4, DCSTAMP, FIND|P|Transmembrane 7 superfamily, member 4||605933|A|||| | ||
8.332|7|18|12|8q22.1|TSPYL5, KIAA1750|P|TSPY-like 5||614721|REc|||| | ||
8.333|4|8|13|8q22.1|UQCRB, UQBP, QPC, MC3DN3|P|Ubinquinol-cytochrome c reductase binding protein||191330|REa|||Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)| | ||
8.334|6|16|99|8q22.2|COX6C|P|Cytochrome c oxidase, subunit VIc||124090|A, R|pseudogene on 16p12||| | ||
8.335|10|3|07|8q23.1|EIF3E, EIF3S6, INT6|P|Eukaryotic translation initiation factor 3, subunit E|(oncogene INT6)|602210|Psh, H|||| | |15(Int6)|
8.336|9|9|09|8q22.1|MTDH, AEG1, LYRIC|C|Metadherin||610323|A, REc|||| | |15(Mtdh)|
8.337|7|22|13|8q22.2|VPS13B, KIAA0532, COH1|C|Vacuolar protein sorting 13, yeast, homolog of, B||607817|Fd, REc|||Cohen syndrome, 216550 (3)| | ||
8.338|8|19|98|8q22.1|SDC2, HSPG1|P|Syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated;|fibroglycan)|142460|REa, A|||| | ||
8.339|2|28|12|8q22.1|C8orf37, CORD16, RP64|P|Chromosome 8 open reading frame 37||614477|REc|||Retinitis pigmentosa 64, 614500 (3); Cone-rod dystrophy 16, 614500|(3) | ||
8.340|11|4|98|8q22.1|CDH17, CDH16, HPT1|P|Cadherin-17, liver-intestine||603017|Psh, A|||| | ||
8.341|3|14|13|8q22.1|NDUFAF6, C8orf38|P|NADH dehydrogenase (ubiquinone) complex I, assembly factor 6||612392|REc|||Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)| | ||
8.342|5|4|12|8q22.1|NMLFS, DEL8q22.1, C8DELq22.1|P|Nablus mask-like facial syndrome (chromosome 8q22.1 deletion syndrome)||608156|Ch|||Nablus mask-like facial syndrome (4)| | ||
8.343|4|15|11|8q22.1|DPY19L4|P|DPY19-like 4||613895|REc|||| | ||
8.344|9|10|09|8q22.1|ESRP1, RMB35A|P|Epithelial splicing regulatory protein 1||612959|REc|||| | ||
8.345|8|7|13|8q22.1|GDF6, MCOP4, KFS1, MCOPCB6, LCA17|P|Growth/differentiation factor 6||601147|REc, Ch|||Klippel-Feil syndrome 1, autosomal dominant, 118100 (3);|Microphthalmia, isolated 4, 613094 (3); Microphthalmia with coloboma 6, digenic, 613703 (3); Leber congenital amaurosis 17, 615360 (3)| ||
8.346|3|16|10|8q22.1|LAPTM4B|P|Lysosome-associated protein, transmembrane 4, beta||613296|REc|pseudogenes on 1q, 3q,3p, 4q, and 7q33-q35||| | ||
8.347|2|2|10|8q22.1|PDP1, PPM2C, PDP1, PDPC|P|Pyruvate dehydrogenase phosphatase catalytic subunit 1||605993|R, REc|||Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)| | ||
8.348|5|6|13|8q22.1|PLEKHF2, EAPF, PHAFIN2|P|Pleckstrin homology domain-containing protein, family F, member 2||615208|REc|||| | ||
8.349|5|13|13|8q22.3|KLF10, TIEG|P|Kruppel-like factor 10||601878|REc, H|||| | |1(Klf10)|
8.350|6|17|02|8q22.3|NCALD|P|Neurocalcin, delta||606722|R|||| | ||
8.351|10|6|09|8q22.3|ATP6V1C1, ATP6C, ATP6D|P|ATPase, H+ transporting, lysosomal, 42-kD, V1 subunit C, isoform 1||603097|R, REc|||| | ||
8.352|8|18|08|8q22.3|AZIN1, OAZIN|P|Antizyme inhibitor 1||607909|R, REc|||| | ||
8.353|1|11|02|8q22.3|BAALC|P|Brain and acute leukemia gene, cytoplasmic||606602|REc|||| | ||
8.354|10|5|11|8q22.3|CTHRC1|P|Collagen triple-helix repeat-containing protein 1||610635|R, REc|||Barrett esophagus/esophageal adenocarcinoma, 614266 (3)| | ||
8.355|9|9|08|8q22.2|FBXO43, EMI2, ERP1, FBX43|P|F-box only protein 43||609110|REc, H|||| | |15(Fbxo43)|
8.356|1|8|06|8q22.3|KTWS, KTS|P|Klippel-Trenaunay-Weber syndrome||149000|Ch|translocation with 14q13||Klippel-Trenaunay-Weber syndrome (2)| | ||
8.357|10|8|12|8q22.3|UBR5, EDD1, HYD, KIAA0896|P|Ubiquitin protein ligase E3 component n-recognin 5||608413|A|||| | ||
8.358|3|24|10|8q22.3|YWHAZ|P|Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation|protein, zeta polypeptide|601288|A|pseudogene on 2p25||| | ||
8.359|3|29|10|8q22.3|MMD2|P|Miyoshi muscular dystrophy 2||613318|Fd|max lod at D10S2325||Miyoshi muscular dystrophy 2 (2)| | ||
8.360|8|25|11|8q22.3|FZD6, NDNC10|P|Frizzled, Drosophila, homolog of, 6||603409|A|||Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails),|614157 (3) | |15(Mfz6)|
8.361|3|22|07|8q23.2|KCNV1, KV8.1|P|Potassium channel, voltage-gated, subfamily V, member 1||608164|A|||| | ||
8.362|12|7|07|8q23.1|ABRA, STARS|P|Actin-binding RHO-activating protein||609747|REc|||| | ||
8.363|7|17|01|8q23.1|CML66|P|Immunogenic tumor antigen CML66||606109|A|||| | ||
8.364|6|16|99|8q24.12|COL14A1, UND|P|Collagen, type XIV, alpha-1 (undulin)||120324|A|||| | ||
8.365|8|20|08|8q23|CRCS6|P|Colorectal cancer, susceptibility to, 6||612231|Fd|associated with rs16892766||{Colorectal cancer, susceptibility to, 6} (2)| | ||
8.366|4|19|01|8q23.2|EBAG9, RCAS1, EB9|P|Estrogen receptor-binding site-associated antigen 9||605772|A|||| | ||
8.367|9|9|98|8q23|GLC1D|P|Glaucoma 1, open angle, D||602429|Fd|||Glaucoma 1D, primary open angle (2)| | ||
8.368|12|7|07|8q23.2|GOLSYN, SYBU, KIAA1472|C|Golgi-localized syntaphilin-related proteoin||611568|REc, H|||| | |15(Golsyn)|
8.369|12|17|07|8q23|HDLCQ2|P|High density lipoprotein cholesterol level QTL 2||607053|Fd|||[High density lipoprotein cholesterol level QTL 2] (2)| | ||
8.370|5|4|09|8q23|LBMQTL1|P|Lean body mass quantitative trait locus 1||612729|Fd|associated with rs16892496 and rs7832552||[Lean body mass QTL 1] (2)| | ||
8.371|10|24|12|8q23|MYMY3|P|Moyamoya disease 3||608796|Fd|max lod at D8S546||Moyamoya disease 3 (2)| | ||
8.372|7|30|09|8q22.2|OSR2|P|Odd-skipped-related 2||611297|REc|||| | ||
8.373|2|5|01|8q23.1|OXR1|P|Oxidation resistance 1||605609|REc|?pseudogene on chr.15||| | ||
8.374|9|2|09|8q23.1-q23.2|PKHD1L1|P|PKHD1-like 1||607843|REc|||| | ||
8.375|5|27|05|8q23.1|TRHR|C|Thyrotropin-releasing hormone receptor||188545|A, H, REa|||Thyrotropin-releasing hormone resistance, generalized (3)| | |15(Trhr)|
8.376|6|21|06|8q23.1|ZFPM2, FOG2, DIH3|C|Zinc finger protein, multitype 2 (friend of GATA2)||603693|R, REc|||Tetralogy of Fallot, 187500 (3); Diaphragmatic hernia 3, 610187 (3)| | ||
8.377|1|10|02|8q23-q24|HT|P|Hashimoto thyroiditis||140300|Fd|?chr.12||Hashimoto thyroiditis (2)| | ||
8.378|10|11|07|8q23-q24|MGS|P|Mungan syndrome||611376|Fd|between D8S1830 and D8S1799||Mungan syndrome (2)| | ||
8.379|10|23|87|8q12.1|PENK|P|Proenkephalin||131330|REa, A|||| | ||
8.380|1|8|95|8q24.12|SNT2B1, A1B, SNTB1|P|Syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic|basic component 1)|600026|REa, A|||| | ||
8.381|4|18|07|8q24.22|ZFAT1, ZNF406, AITD3|P|Zinc finger gene in autoimmune thyroid disease 1||610931|REn|||{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)| | ||
8.382|3|10|03|8q24.12|COLEC10, CLL1|P|Collectin 10||607620|A|||| | ||
8.383|12|27|10|8q22.3|RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B|P|Ribonucleotide reductase M2 B, TP53 inducible||604712|A|||Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type|with renal tubulopathy), 612075 (3); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, 613077 (3); Mitochondrial|DNA depletion syndrome 8B (MNGIE type), 612075 (3) ||
8.384|10|15|09|8q23.1|RSPO2, CRISTIN2|P|R-spondin family, member 2||610575|REc|||| | |15(Rspo2)|
8.385|4|26|11|8q23.1|TMEM74|P|Transmembrane protein 74||613935|REc|||| | ||
8.386|1|27|04|8q23.3|CSMD3, KIAA1894|P|Cub and Sushi multiple domains 3||608399|REc|||| | ||
8.387|12|24|08|8q24.3|ARC, KIAA0278|C|Activity-regulated cytoskeleton-associatec protein||612461|R, A|||| | ||
8.388|6|10|98|8q24.3|BAI1|P|Brain-specific angiogenesis inhibitor-1||602682|A|||| | ||
8.389|11|30|06|8q24.3|BOP1, KIAA0124|C|Block of proliferation 1||610596|Psh, REc|||| | ||
8.390|12|29|06|8q24|BSZQTL3|P|Bone size quantitative trait locus 3||610649|Fd|||[Bone size quantitative trait locus 3] (2)| | ||
8.391|8|20|08|8q24|CRCS2|P|Colorectal cancer, susceptibility to, 2||611469|Fd|associated with rs7014346||{Colorectal cancer, susceptibility to, 2} (2)| | ||
8.392|11|11|98|8q24|ECA1|P|Epilepsy, childhood absence, 1||600131|Fd|||Epilepsy, childhood absence, 1 (2)| | ||
8.393|10|28|10|8q24|EIG1|P|Epilespy, idiopathic generalized, susceptibility to 1||600669|Fd|?same as EBN2||{Epilepsy, idiopathic generalized, susceptibility to, 1} (2)| | ||
8.394|11|2|04|8q24.3|EIF2C2, AGO2|P|Eukaryotic translation initiation factor 2C, subunit 2||606229|R, REc|||| | ||
8.395|6|16|99|8q24.3|GPAA1, GAA1|P|Glycophosphatidylinositol anchor attachment protein 1||603048|A, R|||| | ||
8.396|8|10|99|8q24.22|HHLA1|P|Human endogenous retrovirus-H long terminal repeat-associating 1||604109|A, R|||| | ||
8.397|8|9|07|8q24|HPC10|C|Prostate cancer, hereditary, 10||611100|Fd|strongest assoc. with rs1447295||{Prostate cancer, hereditary, 10} (2)| | ||
8.398|2|22|92|8q24|HPV18I1|P|Human papillomavirus type 18 integration site-1||167959|A|||| | ||
8.399|10|7|09|8q24.3|JRK, JH8|C|Jerky, mouse, homolog of||603210|R, A|||| | |15(Jrk)|
8.400|3|9|98|8q24.22|KCNQ3, EBN2, BFNC2|C|Potassium voltage-gated channel, KQT-like subfamily, member 3||602232|Psh, R, Fd|||Seizures, benign neonatal, type 2, 121201 (3)| | ||
8.401|12|19|11|8q24|FAME1, BAFME1, MEBA|C|Epilepsy, myoclonic, adult familial, 1||601068|Fd|||Epilepsy, myoclonic, adult familial, 1 (2)| | ||
8.402|2|13|09|8q24.3|MAFA, RIPE3B1|P|v-MAF avian musculoaponeurotic fibrosarcoma oncogene homolog A||610303|REc|||| | ||
8.403|8|10|99|8q24.22|OC90, PLA2L|P|Otoconin 90 (phospholipase A2-like)||601658|A, R|PLA2L = fusion between HHLA1 and OC90||| | ||
8.404|2|8|11|8q24.3|PLEC1, PLEC, PLTN, EBS1, LGMD2Q|C|Plectin 1||601282|A, Psh, Fd|||Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3);|Epidermolysis bullosa simplex, Ogna type, 131950 (3); Epidermolysis bullosa simplex with pyloric atresia, 612138 (3); Muscular dystrophy, limb-girdle,|type 2Q, 613723 (3) ||
8.405|10|15|13|8q24|PRNCR1, PCAT8|P|Prostate cancer-associated noncoding RNA 1||615452|REc|||| | ||
8.406|10|23|87|8q24.21|PVT1|P|Oncogene PVT-1 (MYC activator)||165140|RE, Ch|||| | ||
8.407|7|18|12|8q24.11|RAD21, SCC1, NXP1, KIAA0078, CDLS4|C|Rad21, S. pombe, homolog of||606462|REa, A|||Cornelia de Lange syndrome 4, 614701 (3)| | ||
8.408|3|26|07|8q24.3|SPATC1|P|Spermatogenesis- and centriole-associated 1 (speriolin)||610874|REc, H|||| | |15(Spatc1)|
8.409|8|12|02|8q24.12|TNFRSF11B, OPG, OCIF|C|Tumor necrosis factor receptor superfamily, member 11B|(osteoprotegerin)|602643|R|||Paget disease, juvenile, 239000 (3)| | ||
8.410|7|13|93|8q24.3|ZNF7, KOX4|C|Zinc finger protein-7 (KOX4)||194531|A, REa|||| | ||
8.411|9|28|96|8q24.3|ZNF16, KOX9|P|Zinc finger protein-16 (KOX 9)||601262|A, REc|||| | ||
8.412|8|28|01|8q24.3|LY6D, E48|P|Lymphocyte antigen 6 complex, locus D||606204|REa, A|?pseudogene ono 15q22||| | ||
8.413|7|6|99|8q24.3|PTK2, FADK|P|PTK2 protein tyrosine kinase||600758|Psh, H|||| | |15(Fadk)|
8.414|9|28|00|8q24.12|ENPP2, PDNP2|P|Ectonucleotide pyrophosphatase/phosphodiesterase 2||601060|A|||| | ||
8.415|2|26|04|8q24.13|MTSS1, MIM, KIAA0429|C|Metastasis suppressor 1||608486|R, REc|||| | ||
8.416|7|13|93|8q24.12|NOV|P|Nephroblastoma overexpressed gene||164958|REa, A|proximal to MYC||| | |15(nov)|
8.417|8|20|07|8q24.13|RNF139, TRC8, RCA1|P|RING finger protein 139||603046|Ch|||Renal cell carcinoma, 144700 (3)| | ||
8.418|8|16|99|8q24.13|SQLE|C|Squalene epoxidase||602019|R, Psh, A|||| | ||
8.419|10|1|99|8q24.1|THM|L|Tibial hemimelia||275220|D|||?Tibial hemimelia (2)| | ||
8.420|10|16|98|8q24.13|ANX13, ISA|P|Annexin XIII||602573|A|||| | ||
8.421|5|21|01|8q24.21|DDEF1, ASAP1|P|Development- and differentiation-enhancing factor 1 (ARF|GTPase-activating protein 1)|605953|R|||| | ||
8.422|10|13|09|8q24.21|GSDMC, MLZE|P|Gasermin C||608384|A|||| | ||
8.423|9|23|08|8q24.3|KCNK9, TASK3|C|Potassium channel, subfamily K, member 9||605874|REc|||Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)| | ||
8.424|5|16|01|8q24.12|MTBP|P|Mouse double minute 2 homolog, binding protein of||605927|A|||| | ||
8.425|3|29|99|8q24.22|WISP1|P|Wnt-1 inducible signaling pathway protein 1||603398|R|||| | ||
8.426|10|3|07|8q23.3-q24.1|EIF3H, EIF3S3|P|Eukaryotic translation initiation factor 3, subunit H||603912|REc|||| | ||
8.427|1|27|11|8q24.11|MED30, TRAP25, THRAP6|P|Mediator complex subunit 30||610237|A|||| | ||
8.428|2|25|08|8q24.11|SLC30A8, ZNT8|P|Solute carrier family 30 (zinc transporter), member 8||611145|REc|||{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853|(3) | |15(Slc30a8)|
8.429|1|27|04|8q24.11|EXT1|C|Exostosin 1||608177|Ch, Fd|distal to TRPS1||Exostoses, multiple, type 1, 133700 (3); Chondrosarcoma, 215300 (3)| | |15(Ext1)|Ogle (1991); Le Merrer (1992)
8.430|12|14|10|8q24.11-q24.13|TRPS2, LGCR, LGS|C|Trichorhinophalangeal syndrome, type II (Langer-Giedion syndrome)||150230|Ch|contiguous gene syndrome involving TRPS1 and EXT1||Trichorhinophalangeal syndrome, type II (4)| | ||
8.431|9|10|09|8q24.12|DEPDC6, DEPTOR|P|DEP domain-containing protein 6||612974|REc|||| | ||
8.432|2|2|10|8q24.12|DSCC1, DCC1|P|Defective in sister chromatid cohesion 1, S. cerevisiae, homolog of||613203|REc|||| | ||
8.433|6|19|98|8q24.13|HAS2|P|Hyaluronan synthase-2||601636|Psh, REc|||| | |15(Has2)|
8.434|11|22|13|8q24.12|TAF2, TAF2B, TAFII150, CIF150|P|TAF2 RAN polymerase II, TATA box-binding protein-associated factor,|150kD|604912|REc|||| | ||
8.435|7|20|06|8q23.3|TRPS1|C|Zinc finger transcription factor TRPS1||604386|Ch, REc|||Trichorhinophalangeal syndrome, type I, 190350 (3);|Trichorhinophalangeal syndrome, type III, 190351 (3) | ||
8.436|12|9|91|8q24.21|MYC|C|Avian myelocytomatosis viral (v-myc) oncogene homolog||190080|REa, A|cen-5'-3'-ter||Burkitt lymphoma, 113970 (3)| | |15(Myc)|
8.437|11|4|93|8q24.3|ZNF34, KOX32|P|Zinc finger protein-34 (KOX32)||194526|REa, A, D|||| | ||
8.438|4|15|08|8q24.13|ATAD2, ANCCA|P|ATPase family, AAA domain-containing, member 2||611941|R, REc|||| | ||
8.439|5|24|13|8q24.13|DERL1, DER1|P|DER1-like domain family, member 1||608813|REc|||| | ||
8.440|9|9|08|8q24.13|FBXO32, MAFBX, FLJ32424, ATROGIN1|P|F-box only protein 32||606604|REc|||| | |15(Fbxo32)|
8.441|12|1|11|8q24.13|HAS2AS1, HASNT|P|HAS2 antisense RNA 1||614353|REn|||| | ||
8.442|1|7|14|8q24.13|KIAA0196, SPG8, RTSC|C|KIAA0196 gene||610657|Fd, REc, R|||Spastic paraplegia 8, autosomal dominant, 603563 (3);|Ritscher-Schinzel syndrome, 220210 (3) | ||
8.443|6|11|12|8q24.13|TRIB1, TRB1, SKIP1, C8FW|P|Tribbles, Drosophila, homolog of, 1||609461|REc|||| | ||
8.444|5|26|13|8q24.13|TRMT12, TRM12|P|tRNA methyltransferase 12, S. cerevisiae, homolog of||611244|R, REc|||| | ||
8.445|12|17|12|8q24.13-q24.21|PPKP1B|P|Keratoderma, palmoplantar, punctate type IB||614936|Fd|between D8S1804 and D8S1720||Keratoderma, palmoplantar, punctate type IB (2)| | ||
8.446|12|22|08|8q24.13-q24.22|ARHI1|P|Age-related hearing impairment 1||612448|Fd|between rs3765212 and rs4601326||{Age-related hearing impairment 1} (2)| | ||
8.447|9|19|94|8q24.22|ADCY8, ADCY3|P|Adenylyl cyclase-8, brain||103070|A|||| | ||
8.448|4|19|06|8q24.2-q24.3|COL22A1|P|Collagen, type XXII, alpha-1 polypeptide||610026|REc|||| | |15(Col22a1)|
8.449|2|18|08|8q24.22|EFR3A, KIAA0143|P|EFR3, S. cerevisiae, homolog of, A||611798|Psh, REc, H|||| | |15(Efr3a)|
8.450|2|28|07|8q24.23|KHDRBS3, TSTAR, SALP, SLM2, ETOILE|C|KH domain-containing, RNA-binding, signal transduction-associated|protein 3|610421|REc|||| | |15(Khdrbs3)|
8.451|4|8|98|8q24.3|PSCA|P|Prostate stem cell antigen||602470|A|||| | ||
8.452|8|4|97|8q24.3|GPR20|P|G protein-coupled receptor-20||601908|A|||| | ||
8.453|9|11|98|8q24.22|SLA|C|Src-like-adaptor||601099|REa, REn|in intron of TG||| | |15(Slap)|
8.454|9|29|09|8q24.22|TG, AITD3, TDH3|C|Thyroglobulin||188450|A, REa, REb|distal to MYC||Thyroid dyshormonogenesis 3, 274700 (3); {Autoimmune thyroid disease,|susceptibility to, 3}, 608175 (3) | |15(Tgn; cog)|
8.455|9|30|09|8q24.21|CCD26, RAM|P|Coiled-coil domain-containing protein 26||613040|REc|||| | ||
8.456|9|24|08|8q24.21|FAM84B, BCMP101|P|Family with sequence similarity 84, member B||609483|REc|||| | ||
8.457|4|17|13|8q24.21|GLM7|P|Glioma susceptibility 7||613032|Fd|associated with rs55705857||{Glioma susceptibility 7} (2)| | ||
8.458|11|29|12|8q24.22|LRRC6, LRTP, CILD19|P|Leucine-rich repeat-containing protein 6||614930|REc|||Ciliary dyskinesia, primary, 19, 614935 (3)| | ||
8.459|6|9|08|8q24.3|COMMD5, HCARG|P|COMM domain-containing protein 5||608216|REc|||| | ||
8.460|10|15|13|8q24.3|CYC1, MC3DN6|C|Cytochrome c1||123980|REa, A|||Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)| | ||
8.461|9|18|08|8q24.3|EEF1D, EF1D|P|Eukaryotic translation elongation factor 1, delta||130592|REc|||| | ||
8.462|6|1|12|8q24.3|EXOSC4, RRP41|P|Exosome component 4||606491|REc|||| | ||
8.463|4|1|08|8q24.3|FAM83H, AI3|P|Family with sequence similarity 83, member H||611927|Fd, REc|||Amelogenesis imperfecta, type 3, 130900 (3)| | ||
8.464|3|30|99|8q24.3|FAST1|P|Forkhead activin signal transducer 1, Xenopus, homolog of||603621|A|||| | ||
8.465|6|13|12|8q24.3|FBXL6, FBL6, FBL6A|P|F-box and leucine-rich repeat protein 6||609076|R, REc|||| | |15(FBXL6)|
8.466|9|29|96|8q24.3|GLI4, HKR4|C|GLI-Kruppel family member GLI4 (oncogene HKR4)||165280|REa, A|||| | ||
8.467|6|19|98|8q24.3|GML|P|Glycosylphosphatidylinositol-anchored molecule-like protein||602370|A|||| | ||
8.468|5|12|09|8q24.3|GPIHBP1|P|Glycosylphosphatidylinositol-anchored high density lipoprotein-binding|protein 1|612757|REc|||| | ||
8.469|7|11|12|8q24.3|SLC52A2, GPR172A, GPCR41, PAR1, FLJ11856, BVVLS2|P|Solute carrier family 52, riboflavin transporter, member 2||607882|REc|||Brown-Vialetto-Van Laere syndrome 2, 614707 (3)| | ||
8.470|6|17|99|8q24.3|GPT, GPT1, AAT1|C|Glutamic-pyruvate transaminase (alanine aminotransferase)||138200|S, EM, H, Fd, D, A|||| | |15(Gpt1)|
8.471|3|14|96|8q24.3|GRINA, NMDARA1|C|Glutamate receptor, ionotropic, N-methyl||138251|REa, A, R|||| | ||
8.472|9|9|08|8q24.3|HSF1|P|Heat-shock transcription factor 1||140580|R, REc|||| | ||
8.473|1|7|99|8q24.3|LY6E, RIGE, SCA2|C|Lymphocyte antigen 6 complex, locus E (retinoic acid induced gene E)||601384|A|||| | |15(Ly6e)|
8.474|8|17|99|8q24.3|LY6H|P|Lymphocyte antigen 6 complex, locus H||603625|A|||| | ||
8.475|3|14|13|8q24.3|LY6K|P|Lymphocyte antigen 6 complex, locus K||615093|REc|||| | ||
8.476|1|28|11|8q24.3|MAF1|P|Maf1, S. cerevisiae, homolog of||610210|R, REc|||| | ||
8.477|1|31|11|8q24.3|MIR661, MIRN661|P|Micro RNA 661||613716|REc|||| | ||
8.478|3|17|08|8q24.3|NAPRT1|P|Nicotinate phosphoribosyltransferase domain-containing 1||611552|REc|||| | ||
8.479|10|2|03|8q24.22|NDRG1, HMSNL, CMT4D|P|N-myc downstream-regulated gene 1||605262|REc, Fd, LD|||Charcot-Marie-Tooth disease, type 4D, 601455 (3)| | ||
8.480|9|7|00|8q24.3|NFKBIL2, IKBR|P|Nuclear factor of kappa light chain gene enhancer in B cells|inhibitor-like 2|604546|Psh, A|||| | ||
8.481|12|27|13|8q24.3|NRBP2|P|Nuclear receptor-binding protein 2||615563|REc|||| | ||
8.482|7|13|09|8q24.3|OFC12|P|Orofacial cleft 12||612858|Fd|associated with rs987525||Orofacial cleft 12 (2)| | ||
8.483|3|30|12|8q24.3|OPLAH, OPLAHD|P|5-oxoprolinase (ATP-hydrolyzing)||614243|REc|||5-oxoprolinase deficiency, 260005 (3)| | ||
8.484|12|6|01|8q24.3|PTP4A3, PRL3|P|Protein-tyrosine phosphatase, type 4A, 3||606449|R|||| | ||
8.485|1|7|14|8q24.3|PUF60, FIR, SIAHBP1, VRJS|P|Poly-U-binding splicing factor, 60kD||604819|REc|||Verheij syndrome, 615583 (3)| | ||
8.486|3|16|06|8q24.3|RECQL4, RTS, RECQ4|P|DNA helicase, RecQ-like, type 4||603780|Ch, A|||Rothmund-Thomson syndrome, 268400 (3); RAPADILINO syndrome, 266280|(3); Baller-Gerold syndrome, 218600 (3) | ||
8.487|10|16|13|8q24.3|SCRIB, SCRB1, KIAA0147|P|Scribble, Drosophila, homolog of||607733|R, REc|||| | ||
8.488|4|25|08|8q24.3|SCXA, SCX|P|Scleraxis, mouse, homolog of, A||609067|REc|||| | ||
8.489|3|11|08|8q24.3|SHARPIN, SIPL1|P|SHANK-associated RH domain interactor||611885|REc|||| | ||
8.490|6|24|02|8q24.3|SLC39A4, ZIP4|C|Solute carrier family 36 (zinc transporter), member 4||607059|REc, Fd|||Acrodermatitis enteropathica, 201100 (3)| | ||
8.491|10|15|01|8q24.3|TOP1MT|P|Topoisomerase I, mitochondrial||606387|A|||| | ||
8.492|12|30|09|8q24.3|TRAPPC9, NIBP, KIAA1882, MRT13|P|Trafficking protein particle complex 9||611966|REc|||Mental retardation, autosomal recessive 13, 613192 (3)| | ||
8.493|11|20|98|8q24.3|TSTA3|P|Tissue-specific transplantation antigen-3||137020|A|||| | ||
8.494|4|23|08|8q24.3|VPS28|P|Vacuolar protein sorting 28, yeast, homolog of||611952|R, REc|||| | ||
8.495|5|4|00|8q24.3|DGAT1, ARGP1|P|Diacylglycerol O-acyltransferase 1||604900|A, H|||| | |15(Dgat)|
8.496|8|23|01|8q24.3|SLURP1, MDM|C|Secreted LY6/uPAR-related protein 1||606119|Fd, R|||Meleda disease, 248300 (3)| | ||
8.497|11|19|11|Chr.8|AIS3, VAMAS4|P|Autoimmune disease, susceptibility to, 3||608392|Fd|||{Autoimmune disease, susceptibility to, 3} (2)| | ||
8.498|5|28|99|Chr.8|IFNB3|I|Interferon, beta-3, fibroblast||147860|S, REa|previously assigned to 2p23-qter||| | ||
8.499|5|22|03|8q13.3|KCNB2, KV2.2|P|Potassium channel, voltage-gated, shab-related subfamily, member 2||607738|R|||| | ||
8.500|5|12|03|8q23.1|KIAA0103|P|KIAA0103 gene||607722|REa|||| | ||
8.501|3|17|03|8q24.3|LYNX1|P|Lynx1, mouse, homolog of||606110|R|||| | ||
8.502|1|30|01|8q11.23|LYPLA1|P|Lysophospholipase I||605599|R|||| | ||
8.503|2|26|03|8p21.3-p21.2|LYSAL1, LAP70, KIAA0392|P|Lysosomal apyrase-like protein 1||607577|R|||| | ||
8.504|8|27|01|8q21.13|PAG|P|Phosphoprotein associated with glycosphingolipid-enriched microdomains||605767|R|||| | ||
8.505|6|26|01|8q21.12|PKIA|P|Protein kinase, cAMP-dependent catalytic, inhibitor alpha||606059|R|||| | ||
8.506|5|22|03|8p11.22|PLEKHA2, TAPP2|P|Pleckstrin homology domain-containing protein, family A, member 2||607773|R|||| | ||
8.507|1|22|93|8p21.3|PPP3CC, CALNA3|P|Protein phosphatase-3 (formerly 2B), catalytic subunit, gamma isoform|(calcineurin A gamma)|114107|REa|||| | ||
8.508|3|10|03|8q21.11|RDH10|P|Retinol dehydrogenase 10||607599|R|||| | ||
8.509|2|4|02|8q22.3|RIMS2, KIAA0751, RIM2, OBOE|P|Regulating synaptic membrane exocytosis-2||606630|R|||| | ||
8.510|7|13|92|8q22.2|RPL30|P|Ribosomal protein L30||180467|Psh|||| | ||
8.511|6|21|01|8q24.3|SCRT1|P|Scratch, mouse, homolog of||605858|REc|||| | ||
8.512|2|21|03|8q21.11|TCEB1|P|Transcription elongation factor B, polypeptide 1, 15kD (elongin C)||600788|R|||| | ||
8.513|3|29|01|8p12|TEX15|P|Testis-expressed gene 15||605795|R|||| | ||
8.514|8|27|02|8p23.1|TNKS|P|TRF1-interacting, ankyrin-related ADP-ribose polymerase (tankyrase)||603303|R|||| | |8(Tnks)|
8.515|9|20|00|8q13.3|TRAM|P|Translocating chain-associating membrane protein||605190|R|||| | ||
8.516|9|14|89|Chr.8|ZNF1|P|Zinc finger protein-1||194490|REa|||| | |8(Zfp2)|
9.1|10|23|87|9p24.1|RLN1|P|Relaxin, H1||179730|REa|||| | |19(Rln1)|
9.2|10|23|87|9p24.1|RLN2|P|Relaxin, H2||179740|REa|||| | ||
9.3|8|21|07|9p24.3|CBWD1|P|Cobalamin synthetase W domain-containing protein 1||611078|REc|||| | |19(Cbwd)|
9.4|8|29|11|9p24.3|DEL9p24.3, C9DELp24.3, SRXY4|C|Chromosome 9p24.3 deletion syndrome||154230|A, Ch|||46XY sex reversal 4 (4)| | ||
9.5|6|23|99|9p24.3|DMRT1, DMT1|C|Double sex and mab-3-related transcription factor-1||602424|A, Ch|||| | ||
9.6|5|12|00|9p24.3|DMRT2|P|Double sex and mab-3-related transcription factor-2||604935|A|||| | ||
9.7|8|3|12|9p24.3|DMRT3, DMRTA3|P|Doublesex-and mab3-related transcription factor 3||614754|REc|||| | ||
9.8|5|4|12|9p24.3|KANK1, KANK, ANKRD15, KIAA0172, CPSQ2|C|KN motif- and ankyrin repeat domain-containing protein 1||607704|REc|||Cerebral palsy, spastic quadriplegic, 2, 612900 (3)| | ||
9.9|11|22|10|9p24.3|WASH1, WASH|P|WAS protein family homolog 1||613632|REc|pseudogenes on 1p, 15q, 16p, Xq/Yq||| | ||
9.10|6|21|06|9p24.2|GLIS3, ZNF515|P|GLIS family zinc finger protein 3||610192|REc|||Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199|(3) | |19(Glis3)|
9.11|8|8|08|9p24-p23|PTPRD, PTPD, HPTP|C|Protein tyrosine phosphatase, receptor type, delta polypeptide||601598|H, REc|||| | |4(Ptprd)|
9.12|3|31|10|9p24.2|KCNV2, KV11.1, RCD3B|P|Potassium channel, voltage-gated, subfamily V, member 2||607604|REc|||Retinal cone dystrophy 3B, 610356 (3)| | ||
9.13|3|23|06|9p24.2|KIAA0020, HLA-HA8|P|Minor histocompatibility antigen HA-8||609960|R, REc|||| | ||
9.14|3|19|01|9p24.1|PDCD1L2, PDL2|P|Programmed cell death 1 ligand 2||605723|REc|||| | |19(Pdcd1l2)|
9.15|5|25|13|9p24.2|RFX3|P|Regulatory factor X, 3||601337|REc|||| | ||
9.16|7|1|13|9p24.1|AK3, AK3L1|P|Adenylate kinase 3||609290|REc, Psh|||| | |4(Ak3)|
9.17|8|19|13|9p24.1|CDC37L1, HARC, FLJ20639|P|CDC37-like 1||610346|REc|||| | ||
9.18|8|19|13|9p24.1|CIP150, KIAA1432|P|Connexin 43-interacting protein, 150kD||610354|R, REc|||| | ||
9.19|4|1|08|9p24.1|IL33, C9orf26, NFEHEV|C|Interleukin 33||608678|REc, H|||| | |19(Il33)|
9.20|7|20|12|9p24.1|KDM4C, JMJD2C, GASC1, KIAA0780|C|Lysine-specific demethylase 4C||605469|R, REc|||| | ||
9.21|3|23|09|9p24.1|MIR101-2, MIRN101-2|P|Micro RNA 101-2||612512|REc|another locus, MIRN101-1, on 1p31||| | ||
9.22|10|1|95|9p23-p22|NFIB|C|Nuclear factor I/B||600728|A, Ch|||| | |4(Nfib)|
9.23|12|17|07|9p24.1|PPAPDC2|P|PPAP2 domain-containing protein 2||611666|R, REc|||| | ||
9.24|5|26|13|9p24.1|RCL1, RPCL1, RNAC|P|RNA terminal phosphate cyclase-like 1||611405|R, REc|||| | ||
9.25|5|6|13|9p24.1|UHRF2, NIRF|P|Ubiquitin-like protein containing PDH and RING finger domains 2,|E3 ubiquitin protein ligase|615211|REc|||| | ||
9.26|3|4|10|9p24.1-p22.1|FECD7, FCD4|P|Corneal dystrophy, Fuchs endothelial, 7||613271|Fd|max lod at D9S256||Corneal dystrophy, Fuchs endothelial, 7 (2)| | ||
9.27|12|21|09|9p24.3|DOCK8, MRD2|P|Dedicator of cytokinesis 8||611432|REc|||Mental retardation, autosomal dominant 2, 614113 (3);|Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3) | ||
9.28|4|23|09|9p24.1|ERMP1, KIAA1815, FXNA|P|Endoplasmic reticulum metallopeptidase 1||611156|R, REc|||| | ||
9.29|5|24|13|9p24.2|SLC1A1, EAAC1, SCZD18|P|Solute carrier family 1, member 1 (high-affinity glutamate|transporter; excitatory amino acid carrier 1)|133550|REa, A|1 family identified with mutation||{?Schizophrenia susceptibility 18}, 615232 (3)| | ||
9.30|11|6|95|9p24.1|INSL4|P|Insulin-like 4, placenta||600910|A|||| | ||
9.31|11|1|01|9p24.1|INSL6|P|Insulin-like 6||606414|R|||| | |19(Insl6)|
9.32|11|21|12|9p24.1|JAK2, THCYT3|P|Janus kinase 2 (a protein-tyrosine kinase)||147796|A|||Polycythemia vera, 263300 (3); Thrombocythemia 3, 614521 (3);|Myelofibrosis, somatic, 254450 (3); {Budd-Chiari syndrome}, 600880 (3); Leukemia, acute myelogenous, 601626 (3); Erythrocytosis, somatic, 133100 (3)| |19(Jak2)|
9.33|12|3|03|9p24.1|PDCD1LG1, B7H1|C|Programmed cell death 1 ligand 1||605402|REc|||| | ||
9.34|2|21|10|9p24.2|VLDLR, CARMQ1|C|Very low density lipoprotein receptor||192977|A, Psh|||Cerebellar hypoplasia and mental retardation with or without|quadrupedal locomotion 1, 224050 (3) | |19(Vldlr)|
9.35|5|3|13|9p23|MPDZ, MUPP1, HYC2|C|Multiple PDZ domain protein||603785|R, Psh|||Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)| | ||
9.36|10|30|08|9p24-p22|RLS3|C|Restless legs syndrome, susceptibility to, 3||610438|Fd|associated with rs4626664 and rs1975197||{Restless legs syndrome 3} (2)| | ||
9.37|5|4|12|9p24.3|SMARCA2, SNF2L2, NCBRS|P|SWI/SNF related, matrix associated, actin dependent regulator of|chromatin, subfamily a, member 2|600014|A|||Nicolaides-Baraitser syndrome, 601358 (3)| | |19(Snf2l2)|
9.38|9|24|08|9p23|SHEP11|P|Skin/hair/eye pigmentation, variation in, 11||612271|Fd|associated with rs1408799||[Skin/hair/eye pigmentation 11, blue/nonblue eyes] (2)| | ||
9.39|6|1|12|9p23|TYRP1, CAS2, GP75, SHEP11|C|Tyrosinase-related protein 1||115501|Psh, REa, A|||Albinism, oculocutaneous, type III, 203290 (3); Skin/hair/eye|pigmentation, variation in, 11 (Melanesian blond hair), 612271 (3) | |4(b;trp1)|
9.40|9|6|11|9p23-p13.3|MRT16|P|Mental retardation, autosomal recessive 16||614208|Fd|between rs10738277 and rs12376565||Mental retardation, autosomal recessive 16 (2)| | ||
9.41|9|5|01|9p23-p11|FRDA2|P|Friedreich ataxia 2||601992|Fd|||Friedreich ataxia 2 (2)| | ||
9.42|1|7|11|9p23-p21.2|DFNB83|P|Deafness, autosomal recessive 83||613685|Fd|between rs4742645 and rs1471364||Deafness, autosomal recessive 83 (2)| | ||
9.43|2|20|12|9p22.3|FREM1, C9orf154, BNAR, MOTA, TRIGNO2|P|FRAS1-related extracellular matrix protein 1||608944|REc, R|||Bifid nose with or without anorectal and renal anomalies, 608980 (3);|Manitoba oculotrichoanal syndrome, 248450 (3); Trigonocephaly 2, 614485 (3) | ||
9.44|10|2|12|9p22.3|SNAPC3, SNAP50|P|Small nuclear RNA-activating protein complex, polypeptide 3||602348|REc|||| | ||
9.45|10|5|10|9p22.3|TTC39B|P|Tetratricopeptide repeat domain 39B||613574|REc|||| | ||
9.46|4|27|12|9p22.3|ZDHHC21, DHHC21|P|Zinc finger DHHC domain-containing protein 21||614605|REc|||| | ||
9.47|3|4|08|9p22.2|CNTLN, C9orf101, C9orf39|P|Centlein||611870|REc|||| | ||
9.48|8|3|06|9p22.3|PSIP1, LEDGF|P|PC4- and SFRS1-interacting protein 1||603620|A|||| | ||
9.49|12|15|10|9p22.1|ACER2|P|Alkaline ceramidase 2||613492|REc|||| | ||
9.50|7|12|06|9p22.1|AD11|P|Alzheimer disease 11||609790|Fd|between D9S157 and D9S259||Alzheimer disease-11 (2)| | ||
9.51|6|7|04|9p22.3-p22.2|BNC2|P|Basonuclin 2||608669|REc|||| | |4(Bnc2)|
9.52|9|7|10|9p22.1|HAUS6, DGT6, FAM29A|P|HAUS, augmin-like complex, subunit 6||613433|REc|||| | ||
9.53|1|21|01|9p22.1|PLIN2|P|Perilipin 2||103195|REc|||| | |4(Plin2)|
9.54|8|29|08|9p22.1|RRAGA, RAGA, FIP1|P|Ras-related GTP-binding protein A||612194|R, REc|||| | ||
9.55|12|24|08|9p13.3|UBE2R2, UBC3B|P|Ubiquitin-conjugating enzyme E2R 2||612506|REc|||| | ||
9.56|5|27|09|9p22.2-p22.1|ADAMTSL1|P|ADAMTS-like protein 1||609198|REc, H|||| | |4(Adamtsl1)|
9.57|6|14|99|9p22.3|CER1|C|Cerebrus 1, Xenopus, homolog of||603777|R, H|||| | |4(Cer1)|
9.58|5|4|01|9p24.1|GLDC, HYGN1, GCSP, GCE, NKH|C|Glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine|cleavage system protein P)|238300|Ch, A|||Glycine encephalopathy, 605899 (3)| | |19(Gldc)|
9.59|12|14|95|9p21.3|IFNA1, IFNA@|C|Interferon, alpha-1||147660|REa, A, RE|very close to IFF by Fd, LD; 15-30 genes||Interferon, alpha, deficiency (1)| | |4(Ifa)|
9.60|12|14|95|9p21.3|IFNA2|P|Interferon, alpha-2||147562|D|||| | ||
9.61|12|14|95|9p21.3|IFNA4|P|Interferon, alpha-4||147564|D|||| | ||
9.62|12|14|95|9p21.3|IFNA5|P|Interferon, alpha-5||147565|D|||| | ||
9.63|12|14|95|9p21.3|IFNA6|P|Interferon, alpha-6||147566|D|||| | ||
9.64|12|14|95|9p21.3|IFNA7|P|Interferon, alpha-7||147567|D|||| | ||
9.65|12|15|95|9p21.3|IFNA8|P|Interferon, alpha-8||147568|D|||| | ||
9.66|12|15|95|9p21.3|IFNA10|P|Interferon, alpha-10||147577|D|||| | ||
9.67|12|15|95|9p21.3|IFNA13|P|Interferon, alpha-13||147578|D|||| | |4(Ifna13)|
9.68|12|15|95|9p21.3|IFNA14|P|Interferon, alpha-14||147579|D|||| | ||
9.69|12|15|95|9p21.3|IFNA16|P|Interferon, alpha-16||147580|D|||| | ||
9.70|12|15|95|9p21.3|IFNA17|P|Interferon, alpha-17||147583|D|||| | ||
9.71|12|15|95|9p21.3|IFNA21|P|Interferon, alpha-21||147584|D|||| | ||
9.72|7|13|93|9p21.3|MLLT3, AF9|P|Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 3||159558|Ch|fuses with ALL1||| | ||
9.73|5|4|00|9p22.2|SH3GL2, SH3P4|P|SH3 domain, GRB2-like, 2||604465|REa, A|||| | ||
9.74|1|20|06|9p22.1|SLC24A2, NCKX2|P|Solute carrier family 24 (sodium/potassium/calcium exchanger),|member 2|609838|REc|||| | ||
9.75|1|6|11|9p22-p21|DFNA47, DFNB83|P|Deafness, autosomal dominant 47||608652|Fd|between D9S268 and D9S942; possibly allelic to DFNB83||Deafness, autosomal dominant 47 (2)| | ||
9.76|4|13|00|9p22-p21|DMSMFH, BDMF|C|Diaphyseal medullary stenosis with malignant fibrous histiocytoma||112250|Fd|||Diaphyseal medullary stenosis with malignant fibrous histiocytoma (2)| | ||
9.77|11|7|89|9p22-p21|LALL|P|Lymphomatous acute lymphoblastic leukemia||247640|Ch|||Leukemia, acute lymphoblastic (2)| | ||
9.78|12|20|05|9p13.3|UBAP1, UBAP|P|Ubiquitin-associated protein 1||609787|REc|||| | ||
9.79|12|23|05|9p21.2-p21.1|LRRN6C, LINGO2, LERN3|P|Leucine-rich repeat protein, neuronal, 6C||609793|REc|||| | ||
9.80|2|20|11|9p21.1|ACO1, IREB1|C|Aconitase, soluble (iron-responsive element-binding protein-1)||100880|S, REc|||| | |4(Aco1)|
9.81|7|23|13|9p21.2|IFNK|P|Interferon, kappa||615326|R|||| | ||
9.82|7|11|12|9p21.2|IFT74, CCDC2, CMG1|P|Intraflagellar transport 74, Chlamydomonas, homolog of||608040|REc|||| | ||
9.83|5|25|13|9p21.2|PLAA, PLAP|P|Phospholipase A2-activating protein||603873|REc|||| | ||
9.84|7|20|12|9p21.1|DDX58, RIGI|P|DEAD box polypeptide 58||609631|REc|||| | ||
9.85|3|12|01|9p21.1-p12|HMNJ, MNDJ|P|Distal hereditary motor neuropathy, Jerash type||605726|Fd|||Neuropathy, distal hereditary motor, Jerash type (2)| | ||
9.86|3|13|08|9p21|AAA3|P|Aneurysm, familial abdominal 3||611891|Fd|associated with rs10757278||{Aneurysm, familial abdominal 3} (2)| | ||
9.87|3|13|08|9p21|ANIB6|P|Aneurysm, intracranial berry, 6||611892|Fd|associated with rs10757278||{Aneurysm, intracranial berry, 6} (2)| | ||
9.88|10|6|09|9p21|BCC5|P|Basal cell carcinoma, susceptibility to, 5||613062|Fd|associated with rs2151280||{Basal cell carcinoma, susceptibility to, 5} (2)| | ||
9.89|9|21|12|9p21.2|C9orf72, FTDALS, ALSFTD|P|Chromosome 9 open reading frame 72||614260|REc|||Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550|(3) | ||
9.90|3|3|03|9p21.3|CDKN2A, MTS1, P16, MLM, CMM2|C|Cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4)||600160|RE, D, Fd|||{Melanoma, cutaneous malignant, 2}, 155601 (3);|Melanoma and neural system tumor syndrome, 155755 (3); Pancreatic cancer/melanoma syndrome, 606719 (3); Orolaryngeal cancer, multiple,|(3) |4(Cdkn2a)|
9.91|7|10|95|9p21.3|CDKN2B, MTS2, P15, INK4B|P|Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)||600431|A|tandem with MTS1||| | ||
9.92|12|21|09|9p21.3|CDKN2BAS, ANRIL|P|CDKN2B antisense RNA||613149|REc|||| | ||
9.93|2|23|08|9p21|CHDS8|P|Coronary heart disease, susceptibility to, 8||611139|Fd|strongest linkage with dbSNP rs1333049||{Coronary heart disease, susceptibility to, 8} (2)| | ||
9.94|2|24|97|9p21.3|ELAVL2, HELN1, HUB|C|Embryonic lethal, abnormal vision, Drosophila, homolog of, like-2|(Hu antigen B)|601673|Psh, A, H|||| | |4(Hub)|
9.95|4|10|90|9p21.3|IFNB1|C|Interferon, beta-1, fibroblast||147640|REa, A, Fd, LD, RE|distal to IFL; ?9p23-p22; IFF duplicate in some||| | |4(Ifb)|
9.96|5|6|13|9p21.3|IFNE, INFE1, IFNT1|P|Interferon, epsilon||615223|REc|||| | ||
9.97|5|6|97|9p21.3|IFNW1|P|Interferon, omega-1||147553|D|pseudogene IFNWP2; interspersed with IFNA||| | ||
9.98|6|16|08|9p21|MFT2, TEM|P|Trichoepithelioma, multiple familial, 2||612099|Fd|max lod at D9S171||Trichoepithelioma, multiple familial, 2 (2)| | ||
9.99|9|10|12|9p21.3|DMRTA1, DMRT4|P|Doublesex- and MAB3-related transcription factor A1||614803|REc|||| | |4(Dmrta1))|
9.100|5|4|12|9p21.3|FOCAD, KIAA1797|P|Focadhesin||614606|REc|||| | ||
9.101|4|13|10|9p21.3|GLM5|P|Glioma susceptibility 5||613030|Fd|associated with rs4977756||{Glioma susceptibility 5} (2)| | ||
9.102|5|6|13|9p21.3|KLHL9, KIAA1354|C|Kelch-like 9||611201|REc|||| | |4(Klhl9)|
9.103|3|23|09|9p21.3|MIR31, MIRN31|P|Micro RNA 31||612155|REc|||| | ||
9.104|5|4|12|9p21.3|MTAP, DMSMFH|C|Methylthioadenosine phosphorylase||156540|S, D|||Diaphyseal medullary stenosis with malignant fibrous histiocytoma,|112250 (3) | ||
9.105|1|6|93|9p22.1|RPS6|C|Ribosomal protein S6||180460|Psh, A|||| | ||
9.106|1|7|95|9p21.2|TEK, TIE2, VMCM|C|TEK tyrosine kinase, endothelial||600221|A, D, REc|||Venous malformations, multiple cutaneous and mucosal, 600195 (3)| | |4(tek)|
9.107|11|13|07|9p21.1|TOPORS, P53BP3, LUN, RP31|C|Topoisomerase I-binding arginine/serine-rich protein||609507|Fd, A, REc|||Retinitis pigmentosa 31, 609923 (3)| | ||
9.108|10|30|06|9p21.2|TUSC1, TSG9|P|Tumor suppressor candidate 1||610529|REc|||| | |4(Tusc1)|
9.109|6|16|04|9p13.3|NPR2, ANPRB, AMDM|P|Natriuretic peptide receptor B/guanylate cyclase B||108961|REa, A, Fd|||Acromesomelic dysplasia, Maroteaux type, 602875 (3)| | ||
9.110|10|17|05|9p13.3|RMRP, RMRPR, CHH|C|Mitochondrial RNA-processing endoribonuclease||157660|REa, A, Fd, LD, REc|||Cartilage-hair hypoplasia, 250250 (3); Metaphyseal dysplasia without|hypotrichosis, 250460 (3); Anauxetic dysplasia, 607095 (3) | |4(Rmrpn)|
9.111|5|24|13|9p13.1|CNTNAP3, KIAA1714|P|Contactin-associated protein-like 3||610517|REc|||| | ||
9.112|9|9|08|9p13.2|FBXO10, FBX10|P|F-box only protein 10||609092|REc|||| | |4(Fbxo10)|
9.113|9|7|12|9p13.1|IGFBPL1, IGFBPRP4|P|Insulin-like growth factor binding protein-like 1||610413|REc, R|||| | ||
9.114|8|21|07|9p13.3|RUSC2, KIAA0375, IPORIN|P|RUN and SH3 domain-containing 2||611053|REc|||| | ||
9.115|12|4|03|9p13.3|STOML2|C|Stomatin-like protein 2||608292|REc, R|||| | ||
9.116|6|27|08|9p13.1-q21.11|OTSC8|P|Otosclerosis 8||612096|Fd|between D9S970 and D9S1799||Otosclerosis 8 (2)| | ||
9.117|6|1|12|9p21.1|APTX, AOA, AOA1|C|Aprataxin||606350|REc, Fd|||Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia,|208920 (3) | ||
9.118|2|1|11|9p13.3|CA9, MN|C|Carbonic anhydrase IX||603179|REc|previously assigned to 17q21.2||| | ||
9.119|4|17|07|9p13.3|CHMP5|P|CHMP family, member 5||610900|REc|||| | ||
9.120|1|13|11|9p13.3|CLTA|P|Clathrin, light polypeptide (Lca)||118960|REc|previously mapped to 12q23-q24||| | ||
9.121|2|6|13|9p13.3|DNAI1, CILD1, ICS, PCD|C|Dynein, axonemal, intermediate chain 1||604366|Psh, A, REc|||Ciliary dyskinesia, primary, 1, with or without situs inversus,|244400 (3) | ||
9.122|4|17|13|9p13.3|GBA2, KIAA1605, SPG46|P|Glucosidase, beta, acid 2||609471|REc|||Spastic paraplegia 46, autosomal recessive, 614409 (3)| | ||
9.123|2|21|13|9p13.3|GLIPR2, GAPR1, C9orf19|P|GLI pathogenesis-related 2||607141|REc|||| | ||
9.124|12|24|08|9p13.3|GNE, GLCNE, IBM2, DMRV, NM|C|UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase||603824|TM, R, Fd|||Sialuria, 269921 (3); Inclusion body myopathy, autosomal recessive,|600737 (3); Nonaka myopathy, 605820 (3) | ||
9.125|2|21|11|9p13.3|KIF24|P|Kinesin family member 24||613747|REc|||| | ||
9.126|10|15|13|9p13.3|MSMP, PSMP|P|Microseminoprotein, prostate-associated||612191|REc|||| | |4(Psmp)|
9.127|4|25|11|9p13.3|SPINK4, PEC60|P|Serine protease inhibitor, Kazal-type, 4||613929|REc|||| | ||
9.128|6|13|12|9p13.2|EXOSC3, RRP40, PCH1B|P|Exosome component 3||606489|REc|||Pontocerebellar hypoplasia, type 1B, 614678 (3)| | ||
9.129|8|2|13|9p13.3|TPM2, TMSB, AMCD1, DA1, DA2B, NEM4|C|Tropomyosin-2, beta||190990|REa, A, R, Fd|||Arthrogryposis multiplex congenita, distal, type 1, 108120 (3);|Arthrogryposis, distal, type 2B, 601680 (3); Nemaline myopathy 4, autosomal dominant, 609285 (3); CAP myopathy 2, 609285 (3)| ||
9.130|4|2|01|9p13.2|ALDH1B1, ALDH5|C|Aldehyde dehydrogenase 1 family, member B1||100670|REa, A|||| | ||
9.131|2|28|03|9p13.3|AQP3|C|Aquaporin-3||600170|A|incorrectly mapped to chr.7||[Blood group GIL], 607457 (3)| | ||
9.132|1|5|12|9p13.3|AQP7, GLYCQTL|C|Aquaporin-7||602974|A|||[Glycerol quantitative trait locus], 614411 (3)| | ||
9.133|7|11|02|9p21.1|B4GALT1, GGTB2, GT1, GTB, CDG2D|P|Glycoprotein-4-beta-galactosyltransferase-2 (EC 2.4.1.22)||137060|REa, A|||Congenital disorder of glycosylation, type IId, 607091 (3)| | |4(Ggtb)|
9.134|8|29|02|9p13.3|CCL19, SCYA19, ELC, MIP3B|P|Chemokine, C-C motif, ligand 19||602227|Psh, REa, R|||| | ||
9.135|8|29|02|9p13.3|CCL21, SCYA21, SLC|C|Chemokine, C-C motif, ligand 21||602737|REa, R, REc|||| | ||
9.136|8|29|02|9p13.3|CCL27, SCYA27, CCL27, ILC, CTACK|P|Chemokine, C-C motif, ligand 27||604833|REc|||| | |4(Scya27)|
9.137|1|2|96|9p13.3|CNTFR|C|Ciliary neurotrophic factor receptor||118946|Psh, R, A|||| | |4(Cntfr)|
9.138|12|4|02|9p13.3|DCTN3, DCTN22|P|Dynactin 3||607387|R|||| | ||
9.139|6|10|02|9p13.3|GALT|C|Galactose-1-phosphate uridyltransferase||606999|S, D, F|||Galactosemia, 230400 (3)| | |4(Galt)|
9.140|8|25|11|9p13.3|IL11RA, CRSDA|C|Interleukin-11 receptor, alpha||600939|A|||Craniosynostosis and dental anomalies, 614188 (3)| | |4(Il11ra, Etl2)|
9.141|1|5|09|9p13.3|NOL6, NRAP|P|Nucleolar protein 6||611532|REc|||| | ||
9.142|9|3|99|9p13.3|NUDT2, APAH1|P|Nudix-type motif 1 (AP4A hydrolase-1)||602852|A|||| | ||
9.143|3|3|03|9p13.2|PAX5, BSAP|C|Paired box homeotic gene-5 (B-cell lineage specific activator|protein)|167414|REa, A, Fd, Ch|||Lymphoplasmacytoid lymphoma (1)| | |4(Pax5)|
9.144|10|11|05|9p13|PEE3|P|Preeclampsia/eclampsia 3||609403|Fd|||Preeclampsia/eclampsia 3 (2)| | ||
9.145|8|20|12|9p13.3|PIGO, HPMRS2|P|Phosphatidylinositol glycan, class O||614730|REc|||Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)| | ||
9.146|10|5|10|9p13.3|PRSS3, TRY3, T9|P|Protease, serine, 3||613578|REc|||| | ||
9.147|12|14|10|9q21.2|PRUNE2, BMCC1, KIAA0367|C|PRUNE, Drosophila, homolog of, 2||610691|R, REc|||| | ||
9.148|12|24|08|9p13.2|RNF38|P|Ring finger protein 38||612488|REc|||| | ||
9.149|12|19|11|9p13.3|SIGMAR1, SRBP, ALS16|P|Sigma nonopioid intracellular receptor 1||601978|Psh, A|||Amyotrophic lateral sclerosis 16, juvenile, 614373 (3)| | ||
9.150|5|15|97|9p13.3|TESK1|P|Testis-specific protein kinase-1||601782|A|||| | ||
9.151|7|13|11|9p13.3|XRCC9, FANCG|C|X-ray repair, complementing defective, in Chinese hamster, 9||602956|A, Fd, LD|||Fanconi anemia, complementation group G, 614082 (3)| | ||
9.152|9|20|00|9p13.3|RECK, ST15|P|Reversion-inducing cysteine-rich protein with kazal motifs|(suppressor of tumorigenicity 15)|605227|REc|||| | ||
9.153|2|20|02|9p13.3|SIT|P|SHP2-interacting transmembrane adaptor protein||604964|A|||| | ||
9.154|3|19|01|9p13.3|SPAG8, SMP1|P|Sperm-associated antigen 8||605731|R, A|||| | ||
9.155|10|7|13|9p13.3|VCP, IBMPFD1, ALS14|C|Valosin-containing protein||601023|REa, A|||Inclusion body myopathy with early-onset Paget disease and|frontotemporal dementia 1, 167320 (3); Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)| |4(Vcp)|
9.156|11|13|96|9p13.3|BAG1|P|BCL2-associated athanogene||601497|REa, A|||| | ||
9.157|6|8|95|9p13.2|SHB|P|SHB adaptor protein (a Src homology 2 protein)||600314|Psh, A|||| | ||
9.158|11|6|00|9p12-q12|ACP|P|Cerebral palsy, ataxic, autosomal recessive||605388|Fd, HZ|||Cerebral palsy, ataxic, autosomal recessive (2)| | ||
9.159|2|18|96|9q21.11|PGM5|P|Phosphoglucomutase-5||600981|A|||| | |19(Pgm5)|
9.160|8|21|07|9p12|FOXD4L2|P|Forkhead box D4-like 2||611085|REc|||| | ||
9.161|3|24|06|9p13.3|HINT2|P|Histidine triad nucleotide-binding protein 2||609997|REc|||| | ||
9.162|3|8|95|9p11|MROS|L|Melkersson-Rosenthal syndrome||155900|Ch|||?Melkersson-Rosenthal syndrome (2)| | ||
9.163|11|4|91|9p13.3|CD72, LYB2|P|CD72 antigen||107272|REa|||| | |4(Lyb2)|
9.164|1|24|09|9p|DEL9p, C9DELp|P|Chromosome 9p deletion syndrome||158170|Ch|||Chromosome 9p deletion syndrome (4)| | ||
9.165|12|17|07|9p|HDLCQ1|P|High density lipoprotein cholesterol level QTL 1||606613|Fd|||[High density lipoprotein cholesterol level QTL 1] (2)| | ||
9.166|3|3|03|9p|MMS|P|Malignant mesothelioma, susceptibility to||156240|Ch|||{Malignant mesothelioma, susceptibility to} (2)| | ||
9.167|10|1|95|9p13.3|TLN1|P|Talin 1||186745|Psh|||| | ||
9.168|11|22|99|9p13.2|GRHPR, GLXR|C|Glyoxylate reductase/hydroxypyruvate reductase||604296|R, Fd|||Hyperoxaluria, primary, type II, 260000 (3)| | ||
9.169|6|11|94|9q34.11|FPGS|C|Folylpolyglutamate synthetase||136510|S, H|||| | |2(Fpgs)|
9.170|3|15|10|9q|HCHGQ2|P|Hematocrit/hemoglobin quantitative trait locus 2||609320|Fd|||[Hematocrit/hemoglobin quantitative trait locus 2] (2)| | ||
9.171|4|27|12|9q|SPG19|P|Spastic paraplegia-19||607152|Fd|||Spastic paraplegia 19, autosomal dominant (2)| | ||
9.172|1|25|91|9q21.13|ANXA1, LPC1|P|Annexin A1 (lipocortin I)||151690|REa, A|||| | |19(Lpc1)|
9.173|1|29|01|9q22.32|BARX1|P|BarH-like homeo box gene 1||603260|R|||| | ||
9.174|10|23|87|9q12|DNCM|P|Cytoplasmic membrane DNA||126330|A|in 9qh||| | ||
9.175|5|2|03|9q21.11|TJP2, ZO2|P|Tight junction protein 2||607709|REc, Fd|||Hypercholanemia, familial, 607748 (3)| | ||
9.176|1|13|99|9q21.12|BTEB1, BTEB|P|Basic transcription element-binding protein 1||602902|Psh, A|||| | ||
9.177|8|21|07|9q21.11|CBWD3|P|Cobalamin synthetase W domain-containing protein 3||611080|REc|||| | ||
9.178|11|12|96|9q13|CMD1B, CMPD1, FDC|C|Cardiomyopathy, dilated-1B, autosomal dominant||600884|Fd|||Cardiomyopathy, dilated 1B (2)| | ||
9.179|8|21|07|9q21.11|FOXD4L3|P|Forkhead box D4-like 3||611086|REc|||| | ||
9.180|11|30|06|9q21.11|FXN, FRDA, FARR, X25|C|Frataxin||606829|Fd|||Friedreich ataxia, 229300 (3); Friedreich ataxia with retained|reflexes, 229300 (3) | ||
9.181|4|10|02|9q21.13|GCNT1|C|Glucosaminyl (N-acetyl) transferase 1, core 2|(beta-1,6-N-acetylglucosaminyltransferase)|600391|A, Psh, R|||| | |13(Gcnt1)|
9.182|9|19|91|9q21.11|PRKACG|P|Protein kinase, cAMP-dependent, catalytic, gamma||176893|REa, A|||| | ||
9.183|9|18|98|9q21.11|PIP5K1B, STM7, MSS4|P|Phosphatidylinositol-4-phosphate 5-kinase, type I, beta||602745|REn, REc|||| | ||
9.184|2|13|98|9q13-q21|GSM1, GSP|P|Geniospasm 1||190100|Fd|||Geniospasm (2)| | ||
9.185|6|16|06|9q21.13|OSTF1, OSF, SH3P2|P|Osteoclase-stimulating factor 1||610180|REc|conflicting assignment to 12q24.1-q24.2 by FISH||| | ||
9.186|2|26|02|9q21.13|TMC1, DFNB7, DFNB11, DFNA36|C|Transmembrane channel-like protein 1||606706|Fd, REc|||Deafness, autosomal recessive 7, 600974 (3); Deafness, autosomal|dominant 36, 606705 (3) | |19(Tmc1, dn, Bth)|
9.187|4|26|01|9q21.13|TMEM2|P|Transmembrane protein 2||605835|REc|||| | |19(Tmem2)|
9.188|5|7|03|9q21.11|X123|P|X123 gene||607710|REc|||| | ||
9.189|1|16|07|9q21.13|ZFAND5, ZNF216|P|Zinc finger AN1 domain-containing protein 5||604761|REc|||| | |19(Znf216)|
9.190|7|22|13|9q13-q22|CTRCT26, CAAR|P|Cataract 26, multiple types||605749|Fd|||Cataract 26, multiple types (2)| | ||
9.191|1|28|88|9q21.13|ALDH1A1|P|Aldehyde dehydrogenase-1 family, member A1, soluble||100640|REa, A|||| | |19(Ahd2)|
9.192|1|3|00|9q21.2|GNA14|P|Guanine nucleotide-binding protein, alpha-14||604397|A, REc|||| | ||
9.193|6|11|13|9q21.2|GNAQ, SWS, CMC1|P|Guanine nucleotide-binding protein (G protein), q||600998|REa, A|pseudogene on 2q||Sturge-Weber syndrome, somatic, mosaic, 185300 (3); Capillary|malformations, congenital, 1, somatic, mosaic, 163000 (3) | ||
9.194|9|28|96|9q22.31|IARS|P|Isoleucine-tRNA synthetase||600709|Psh, A|||| | ||
9.195|10|15|09|9q21|PVOP2|P|Pelvic organ prolapse, susceptibility to, 2||613088|Fd|between rs4077632 and rs10868525||{Pelvic organ prolapse, susceptibility to, 2} (2)| | ||
9.196|2|29|04|9q21.2|VPS13A, CHAC|C|Vacuolar protein sorting 13A (chorein)||605978|Fd, LD|||Choreoacanthocytosis, 200150 (3)| | ||
9.197|10|20|92|9q22.33|COL15A1|P|Collagen XV, alpha-1 polypeptide||120325|REa, A|||| | |4(Col15a1)|
9.198|3|22|93|9q21.33|CTSL|C|Cathepsin L||116880|REa, A, Psh|\'like\' sequence on 10q23-q24||| | |13(Ctsl)|
9.199|1|10|12|9q21-q22|ETL4, ETOLM|P|Epilepsy, familial temporal lobe, 4||611631|Fd|between GATA152H04 and D9S253||Epilepsy, familial temporal lobe, 4 (2)| | ||
9.200|1|12|08|9q21.32|FRMD3, EPB41LO|P|FERM domain-containing 3||607619|REc|||| | ||
9.201|1|29|01|9q21.2|PCA3, DD3|P|Prostate cancer antigen 3||604845|REa|||| | ||
9.202|9|16|09|9q21.13|RFK|P|Riboflavin kinase||613010|REc|||| | ||
9.203|11|1|10|9q21.11|DFNA51, C9DUPq21.11, DUP9q21.11|C|Deafness, autosomal dominant 51 (chromosome 9q21.11 duplication|syndrome)|613558|Ch|259kb duplication involving TJP2 and FAM189A2||Deafness, autosomal dominant 51 (4)| | ||
9.204|10|2|13|9p24.3|FOXD4, FKHL9|P|Forkhead box D4||601092|A, REc|||| | |19(Foxd4)|
9.205|7|20|09|9q21.12|MAMDC2|P|MAM domain-containing 2||612879|REc|||| | ||
9.206|4|28|09|9q21.12|MIR204, MIRN204|P|Micro RNA 204||610942|REc|||| | ||
9.207|10|4|05|9q21.12|SMC5L1, SMC5, KIAA0594|P|Structural maintenance of chromosomes 5-like 1||609386|R, REc|||| | ||
9.208|8|20|98|9q21.11-q21.12|APBA1, X11, D9S411E, MINT1, LIN10|P|Amyloid beta A4 precursor protein-binding, family A, member 1||602414|RE, REc|||| | ||
9.209|10|31|08|9q21.12-q21.13|TRPM3, MLSN2, LTRPC3, KIAA1616|P|Transient receptor potential cation channel, subfamily M, member 3||608961|REc|||| | ||
9.210|9|9|13|9q21.13|GDA, CYPIN|P|Guanine deaminase||139260|REc|||| | ||
9.211|6|26|00|9q21.32|UBQLN1, DA41|P|Ubiquilin 1 (Da41, rat, homolog of)||605046|A|||| | ||
9.212|8|20|07|9q21.33|ISCA1, HBLD2, HISCA|P|Iron-sulfur cluster assembly 1, S. cerevisiae, homolog of||611006|REc|||| | ||
9.213|5|1|97|9q21.13|PCSK5|C|Proprotein convertase subtilisin/kexin type 5||600488|REa, A, REc|?close to LPC1 on 9q||| | |19(Pcsk5)|
9.214|2|3|06|9q21.32|TLE1, ESG1|C|Transducin-like enhancer of split 1 (homolog of Drosophila E(spl))||600189|REa, A, REn, R|conflicting assignment to chr.19||| | ||
9.215|4|15|09|9q22.31|ASPN, PLAP1, OS3|C|Asporin||608135|REc|||{Osteoarthritis susceptibility 3}, 607850 (3); {Lumbar disc|degeneration}, 603932 (3) | ||
9.216|3|13|06|9q21.3-q22|FHL1, HPLH1, HLH1|P|Hemophagocytic lymphohistiocytosis, familial, 1||267700|Fd|||Hemophagocytic lymphohistiocytosis, familial, 1 (2)| | ||
9.217|3|18|94|9q21.33|GAS1|C|Growth arrest-specific gene-1||139185|Psh, A|||| | |13(Gas1)|
9.218|5|9|07|9q21.2|PSAT1, PSAT, EPIP|P|Phosphoserine aminotransferase 1||610936|REc|||Phosphoserine aminotransferase deficiency, 610992 (3)| | ||
9.219|5|26|13|9q21.32|KIF27|C|Kinesin family member 27||611253|REc|||| | ||
9.220|5|24|13|9q21.32|MIR7-1|P|Micro RNA 7-1||615239|REc|||| | ||
9.221|10|30|08|9q21.32|RMI2, BLAP75, C9orf76|P|RecQ-mediated genome instability 1, S. cerevisiae, homolog of||610404|REc|||| | ||
9.222|4|9|96|9q21.32|HNRPK|C|Heterogeneous nuclear ribonucleoprotein K||600712|REa, A|||| | ||
9.223|4|6|11|9q21.33|AGTPBP1, NNA1, KIAA1035, CCP1|P|ATP/GTP-binging protein 1||606830|REc|||| | ||
9.224|12|7|09|9q21.33|GOLPH2, GP73|P|Golgi phosphoprotein 2||606804|REc|||| | ||
9.225|6|23|03|9q22.33|ALG2, CDGII|C|Alg2, S. cerevisiae, homolog of||607905|REc|||Congenital disorder of glycosylation, type Ii,  607906 (3)| | ||
9.226|9|2|08|9q22.3-q31.1|CSMF|C|Chondrosarcoma, extraskeletal myxoid, fused to EWS in||600542|Ch, A|t(9;17)(q22;q11); t(9;22)(q22;q11-q12)||Chondrosarcoma, extraskeletal myxoid, 612237 (3)| | ||
9.227|8|10|98|9q22.33|FOXE1, FKHL15, TITF2, TTF2|C|Forkhead box E1 (thyroid transcription factor-2)||602617|Psh, REc|||Bamforth-Lazarus syndrome, 241850 (3)| | |4(Titf2)|
9.228|10|5|10|9q22.33|GALNT12, CRCS1|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 12|610290|REc|||{Colorectal cancer, susceptibility to, 1}, 608812 (3)| | ||
9.229|1|23|07|9q22.33|HEMGN, EDAG|P|Hemogen||610715|A|||| | |4(Hemgn)|
9.230|11|17|94|9q22.32|HSD17B3, EDH17B3|P|Hydroxysteroid (17-beta) dehydrogenase 3||605573|A|||Pseudohermaphroditism, male, with gynecomastia, 264300 (3)| | ||
9.231|8|25|04|9q22|JOAG2|P|Glaucoma, primary open angle, juvenile-onset, 2||608695|Fd|between D9S1803 and D9S196||Glaucoma, primary open angle, juvenile-onset, 2 (2)| | ||
9.232|6|9|98|9q22.31|NINJ1|C|Ninjurin||602062|A|||| | |13(Ninj1)|
9.233|2|2|01|9q22.31|PHF2|C|PHD finger protein-2||604351|REn, REc, R|||| | ||
9.234|8|14|00|9q22.31|ROR2, BDB1, BDB, NTRKR2|C|Receptor tyrosine kinase-like orphan receptor 2||602337|Fd, R, REc, Ch|||Brachydactyly, type B1, 113000 (3); Robinow syndrome, autosomal|recessive, 268310 (3) | |13(Ror2)|
9.235|12|3|98|9q21.13|RORB, RZRB|P|RAR-related orphan receptor B||601972|A|||| | |4(Rorb)|
9.236|7|3|06|9q22|STQTL8|P|Stature quantitative trait locus 8||610114|Fd|between GATA81C04M and ATA18A07M||{Stature QTL 8} (2)| | ||
9.237|1|7|95|9q22.2|SYK|P|Spleen tyrosine kinase||600085|A|||| | |13(Syk)|
9.238|4|26|11|9q22.33|TGFBR1, ALK5, AAT5, LDS2A, LDS1A, MSSE|C|Transforming growth factor, beta receptor I (activin A receptor type|II-like kinase, 53kD)|190181|Psh, A|||Loeys-Dietz syndrome, type 1A, 609192 (3); Loeys-Dietz syndrome,|type 2A, 608967 (3); {Multiple self-healing squamous epithelioma, susceptiblity to}, 132800 (3)| |4(Tgfbr1)|
9.239|9|30|02|9q21.13|TRPM6, CHAK2, HOMG1|C|Transient receptor potential cation channel, subfamily M, member 6||607009|REc|||Hypomagnesemia 1, intestinal, 602014 (3)| | ||
9.240|4|8|08|9q31.1|ABCA1, ABC1, HDLDT1, TGD|C|ATP-binding cassette 1||600046|A, REc|||Tangier disease, 205400 (3); HDL deficiency, type 2, 604091 (3);|{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)| ||
9.241|12|27|01|9q22.33|TRIM14, KIAA0129|P|Tripartite motif-containing protein 14||606556|REa, R|||| | ||
9.242|10|15|98|9q31.1|ZNF189|P|Zinc finger protein-189||603132|A|||| | ||
9.243|4|17|13|9q22.1|CDK20, CCRK, CDCH, P42|P|Cyclin-dependent kinase 20||610076|R, REc|||| | ||
9.244|5|8|07|9q22.33|GPR51, GABBR2|C|G protein-coupled receptor 51||607340|R, A|||{Nicotine dependence, susceptibility to}, 188890 (3); {Nicotine|dependence, protection against}, 188890 (3) | ||
9.245|4|11|11|9q21.33|NTRK2, TRKB|C|Neurotrophic tyrosine kinase, receptor, type 2||600456|REa, A|||Obesity, hyperphagia, and developmental delay, 613886 (3)| | ||
9.246|7|12|13|9q22.1|NXNL2, RDCVF2|P|Nucleoredoxin-like protein 2||615299|REc, H|||| | |13(Nxnl2)|
9.247|9|18|08|9q22.1|S1PR3, EDG3|P|Sphingosine-1-phosphate receptor 3||601965|A|||| | ||
9.248|5|25|00|9q22.2|GADD45G, GRP17|C|Growth arrest- and DNA damage-inducible gene 45, gamma||604949|A, R|||| | ||
9.249|10|11|00|9q22.31|NFIL3, NFIL3A, E4BP4|P|Nuclear factor, interleukin 3-regulated||605327|REc|||| | ||
9.250|3|2|06|9q22.1|SPIN, SPIN1|P|Spindlin||609936|REc|||| | ||
9.251|3|5|01|9q22.31|SPTLC1, LBC1, SPT1, HSN1, HSAN|P|Serine palmitoyltransferase, long-chain base subunit 1||605712|Fd|||Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3)| | ||
9.252|7|12|01|9q22.33|CTSL2, CTSV|C|Cathepsin L2||603308|A|||| | ||
9.253|11|9|05|9q22.2|SECISBP2, SBP2|C|Selenocysteine insertion sequence-binding protein 2||607693|REc|||Thyroid hormone metabolism, abnormal, 609698 (3)| | ||
9.254|3|22|07|9q21.32-q21.33|SLC28A3, CNT3|P|Solute carrier family (sodium-coupled nucleoside transporter),|member 3|608269|A, REc|||| | ||
9.255|11|13|07|9q22.32|FBP1|C|Fructose-bisphosphatase 1||611570|A, Fd, REc|||Fructose-1,6-bidphosphatase deficiency, 229700 (3)| | ||
9.256|4|30|09|9q31.1|ALDOB|C|Aldolase B, fructose-bisphosphatase||612724|REb, REa, A, D, REc|||Fructose intolerance, 229600 (3)| | |4(Aldo2)|
9.257|5|2|03|9q31.1|BAAT|C|Bile acid coenzyme A:amino acid N-acyltransferase (glycine|N-choloyltransferase)|602938|REc, H|||Hypercholanemia, familial, 607748 (3)| | |4(Baat)|
9.258|7|12|13|9q22.31|BICD2, KIAA0699, SMALED2|P|Bicaudal D, Drosophila, homolog of, 2||609797|R, REc|||Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290|(3) | ||
9.259|10|20|99|9q22.33|CORO2A, WDR2, IR10|P|Coronin 2A||602159|REc|||| | ||
9.260|6|14|99|9q22.31|ECM2|P|Extracellular matrix protein-2||603479|A|||| | ||
9.261|4|19|11|9q22.32|FANCC, FACC|C|Fanconi anemia, complementation group C||613899|Fd, REc|||Fanconi anemia, complementation group C, 227645 (3)| | |13(Facc)|Strathdee (1992); Verlander (1992)
9.262|5|4|00|9q22.31|OGN, OIF|C|Osteoglycin||602383|R, A|||| | ||
9.263|3|1|07|9q22.32|PTCH1, NBCCS, BCNS, HPE7|C|Patched, Drosophila, homolog of||601309|R, Fd, D|||Basal cell nevus syndrome, 109400 (3); Basal cell carcinoma,|somatic, 605462 (3); Holoprosencephaly-7, 610828 (3) | |13(Ptc)|
9.264|2|3|05|9q22.32|SLC35D2, HFRC1, SQV7L|P|Solute carrier family 35, member D2||609182|REc|||| | ||
9.265|3|22|06|9q22.33|TBC1D2, PARIS1|P|TBC1 domain family, member 2||609871|REc|||| | ||
9.266|5|20|99|9q22.33|TMOD|C|Tropomodulin||190930|A, REc|||| | |4(Tmod)|
9.267|5|26|05|9q22.31|WNK2, PRKWNK2|C|WNK lysine deficient protein kinase 2||606249|R, REc|||| | ||
9.268|8|30|07|9q22.33|XPA, XPAC|C|XPA complementing gene||611153|S, A, M, REc|||Xeroderma pigmentosum, group A, 278700 (3)| | |4(Xpa)|Kaur (1989); Ishizaki (1990)
9.269|1|12|99|9q22.32|ZNF169|C|Zinc finger protein-169||603404|A, REn|||| | ||
9.270|5|9|97|9q22.33|NCBP|P|Nuclear cap binding protein, 80kD||600469|REa, REc|in 500kb of XPA||| | |4(Ncbp)|
9.271|8|9|12|9q22.31|AUH|P|AU-specific RNA-binding protein (3-methylglutaconyl-CoA hydratase)||600529|R, REc|||3-methylglutaconic aciduria, type I, 250950 (3)| | ||
9.272|10|08|07|9q22.31|CENPP|P|Centromeric protein P||611505|R, REc|||| | ||
9.273|9|24|08|9q22.31|FAM120A, C9orf10, KIAA0183|P|Family with sequence similarity 120, member A||612265|REc|||| | ||
9.274|3|23|09|9q22.32|MIR189, MIRN24-1|P|Micro RNA 24-1||609705|REc|||| | ||
9.275|3|23|09|9q22.32|MIR23B, MIRN23B|P|Micro RNA 23B||610723|REc|||| | ||
9.276|3|23|09|9q22.32|MIR27B, MIRN27B|P|Micro RNA 27B||610636|REc|||| | ||
9.277|3|23|09|9q22.32|MIRLET7A1, LET7A1, MIRNLET7A1|P|Micro RNA Let7a1||605386|REc|||| | ||
9.278|3|23|09|9q22.32|MIRLET7D, LET7D, MIRNLET7D|P|Micro RNA Let7d||612145|REc|||| | ||
9.279|3|23|09|9q22.32|MIRLET7F1, LET7F1, MIRNLET7F1|P|Micro RNA Let7f1||612146|REc|||| | ||
9.280|8|20|08|9q22.31|NOL8, NOP132|P|Nucleolar protein 8||611534|REc|||| | ||
9.281|8|19|13|9q22.32|ZNF367, AFF29|C|Zinc finger protein 367||610160|REc|||| | ||
9.282|3|30|23|9q22.32-q22.33|CDC14B|P|Cell division cycle 14, S. cerevisiae, homolog B||603505|R, REc|||| | ||
9.283|9|9|13|9q22.33|ANKS6, PKDR1, NPHP16|P|Ankyrin repeat and sterile alpha motif domains-containing protein 6||615370|REc|||Nephronophthisis 16, 615382 (3)| | ||
9.284|7|23|13|9q22.33|TDRD7, KIAA1529, TRAP, CATC4, CTRCT36|C|Tudor domain-containing protein 7||611258|REc, R, Ch|||Cataract 36, 613887 (3)| | ||
9.285|1|12|07|9q31.3|ACTL7A|C|Actin-like 7A||604303|REa, REn, H|||| | |4(Actl7a)|
9.286|1|12|07|9q31.3|ACTL7B|C|Actin-like 7B||604304|REc, REn, H|||| | |4(Actl7b)|
9.287|11|10|10|9q31.2|FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4|C|Fukutin||607440|Fd, LD|||Muscular dystrophy-dystroglycanopathy (congenital with brain and eye|anomalies), type A, 4, 253800 (3); Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3); Cardiomyopathy,|dilated, 1X, 611615 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3)||
9.288|3|20|06|9q31.2|FSD1NL, FSD1L, MIR1, CCDC10|P|FSD1 N-terminus-like protein||609829|REc|||| | ||
9.289|2|2|11|9q31|HSCR5|P|Hirschsprung disease, susceptibility to, 5||600156|LD|||{Hirschsprung disease, susceptibility to, 5} (2)| | ||
9.290|4|5|01|9q31.3|IKBKAP, IKAP|C|Inhibitor of kappa light polypeptide gene enhancer in B cells,|kinase complex-associated protein|603722|REc, Fd|||Dysautonomia, familial, 223900 (3)| | ||
9.291|8|12|03|9q31.1|INVS, INV, NPHP2, NPH2|C|Inversin||243305|REc, A, Fd|||Nephronophthisis 2, infantile, 602088 (3)| | ||
9.292|1|29|01|9q31.2|KLF4, EZF, GKLF|P|Kruppel-like factor 4||602253|R|||| | |4(Ezf)|
9.293|12|20|05|9q31|PAND2|P|Panic disorder 2||607853|Fd|max lod at D9S271||Panic disorder 2 (2)| | ||
9.294|12|19|01|9q34.11|SIAT7D, SIAT3C|C|Sialyltransferase 7D||606378|A, R, REc|||| | ||
9.295|12|8|04|9q31.1|STX17|P|Syntaxin 17||604204|REc|||| | ||
9.296|2|9|92|9q31.2|TAL2|P|T-cell acute lymphocytic leukemia-2||186855|REa, A, RE, Ch|33kb from breakpoint in t(7;9)||Leukemia-2, T-cell acute lymphoblastic (3)| | |4(Tal2)|
9.297|6|14|99|9q31.1|TMEFF1, C9ORF2|P|Transmembrane protein with EGF-like and 2 follistatin-like domains 1||603421|A, REa|||| | ||
9.298|5|9|95|9q31.3|TXN|C|Thioredoxin||187700|A, Psh|incorrectly assigned to 3||| | |4(Txn)|
9.299|8|10|98|9q31.3|UGCG, GCS|P|UDP-glucose ceramide glucosyltransferase||602874|A|||| | |4(Ugcg)|
9.300|4|21|10|9q31.3|EPB41L4B, EHM2|P|Erythrocyte membrane protein band 4.1-like 4B||610340|REc|||| | ||
9.301|6|29|05|9q31-q32|HNP1|P|Hypertensive nephropathy||608026|Fd|||Hypertensive nephropathy (2)| | ||
9.302|11|4|98|9q32|SLC31A1, COPT1, CTR1|P|Solute carrier family 31 (copper transporter), member 1||603085|REn|||| | ||
9.303|12|13|00|9q32|SLC13A2, COPT2, CTR2|P|Solute carrier family 31 (copper transporter), member 2||603088|REn|||| | ||
9.304|11|22|04|9q31.3|AKAP2, AKAPKL, KIAA0920, PALM2|P|A-kinase anchor protein 2||604582|R|multiple splice variants||| | ||
9.305|3|9|00|9q31.3|C9orf4, CG6|C|Chromosome 9 open reading frame 4||604574|REc, REa|||| | ||
9.306|5|22|03|9q32|PRPF4, PRP4, HPRP4|P|Precursor mRNA-processing factor 4, S. cerevisiae, homolog of||607795|A|||| | ||
9.307|3|5|98|9q32|RGS3|P|Regulator of G-protein signaling-3||602189|R|||| | ||
9.308|12|17|07|9q32|SLC46A2, TSCOT|P|Solute carrier family 46, member 2||608956|H, REc|||| | |4(Slc46a2)|
9.309|1|19|07|9q31-q34|SPDA2|P|Spondyloarthropathy, susceptibility to, 2||183840|Fd|max lod at D9S1776||{Spondyloarthropathy, susceptibility to, 2} (2)| | ||
9.310|7|3|06|9q33.1|TRIM32, HT2A, LGMD2H, BBS11|C|Tripartite-motif-containing protein 32||602290|Fd, REc|||Muscular dystrophy, limb-girdle, type 2H, 254110 (3); Bardet-Biedl|syndrome 11, 209900 (3) | ||
9.311|11|30|12|9q31.1|CHDT3|P|Congenital heart defects, multiple types, 3||614954|Fd|max lod at D9S1690||Congenital heart defects, multiple types, 3 (2)| | ||
9.312|3|24|09|9q31.1|CYLC2|P|Cylicin 2||604035|REc|||| | ||
9.313|3|24|09|9q31.1|GRIN3A, NR3A|P|Glutamate receptor, ionotropic, N-methyl-D-aspartate 3A||606650|REc|||| | ||
9.314|3|5|08|9q31.1|MRPL50|P|Mitochondrial ribosomal protein L50||611854|REc|pseudogenes on 2, 5, and 10||| | ||
9.315|9|16|12|9q31.1|NIPSNAP3A, TASSC|P|NIPSNAP, C. elegans, homolog of, 3A||608871|REc|||| | ||
9.316|4|15|11|9q31.1|PPP3R2, PPP3RL, CBLP|C|Protein phsophatase 3, regulatory subunit B, beta||613821|R, REc|||| | ||
9.317|10|7|13|9q31.1|TXNDC4, KIAA0573|C|Thioredoxin domain-containing protein 4||609170|R, REc|||| | ||
9.318|1|12|07|9q31.3|CTNNAL1|C|Catenin, alpha-like, 1||604785|R, A, REn|||| | ||
9.319|7|20|09|9q31.2|MENAQ3|P|Menarche, age at, QTL3||612883|Fd|associated with rs2090409||{Menarche, age at, QTL3} (2)| | ||
9.320|4|24|09|9q31.1-q31.2|SLC44A1, CTL1, CDW92|P|Solute carrier family 44, member 1||606105|REc|||| | ||
9.321|2|8|13|9q31.2|TMEM38B, TRICB, OI14|P|Transmembrane protein 38B||611236|REc|||Osteogenesis imperfecta, type XIV, 615066 (3)| | ||
9.322|9|22|08|9q31.2-q34.2|IS4|P|Scoliosis, idiopathic, susceptibility to, 4||612238|Fd|max lod at D9S2157||{Scoliosis, idiopathic, susceptibility to, 4} (2)| | ||
9.323|5|25|13|9q31.3|GNG10|P|Guanine nucleotide-binding protein, gamma 10||604389|REc|||| | ||
9.324|9|18|08|9q31.3|LPAR1, EDG2, LPA1, VZG1|P|Lysophosphatidic acid receptor 1||602282|R, REc|||| | |4(vzg1)|
9.325|3|23|09|9q31.3|MIR32, MIRN32|P|Micro RNA 32||609355|REc|||| | ||
9.326|8|8|13|9q31.3|PTPN3, PTPH1|P|Protein-tyrosine phosphatase, nonreceptor-type, 3||176877|A, REc|||| | ||
9.327|8|21|07|9q31.3|MUSK|C|Receptor tyrosine kinase MuSK||601296|A|||Myasthenic syndrome, congenital, associated with acetylcholine|receptor deficiency, 608931 (3) | |4(Musk)|
9.328|3|4|10|9q32|C9orf80, SOSSC|P|Sensor of single-stranded DNA complex, subunit C||613273|REc|||| | ||
9.329|3|30|12|9q32|CDC26, APC12|P|Cell division cycle 26, S. cerevisiae, homolog of||614533|REc|pseudogene on 7q32.1||| | ||
9.330|2|16|04|9q32|COL27A1, KIAA1870|P|Collagen, type XXVII, alpha-1||608461|REc|||| | |4(Col27a1)|
9.331|4|17|00|9q33.1|DEC1|P|Deleted in esophageal cancer 1||604767|D|||Esophageal squamous cell carcinoma, 133239 (1)| | ||
9.332|4|30|09|9q32|IBD16|P|Inflammatory bowel disease 16, susceptibility to||612259|Fd|||{Inflammatory bowel disease 16} (2)| | ||
9.333|8|19|13|9q32|KIF12|P|Kinesin family member 12||611278|REc|||| | ||
9.334|1|2|08|9q31.3|SVEP1, POLYDOM, SELOB|C|Sushi, von willebrand factor type A, EGF, and pentraxin|domain-containing 1|611691|A, H, REc|||| | |4(Svep1)|
9.335|9|26|08|9q32|TNFSF15, TL1, VEGI|C|Tumor necrosis factor ligand superfamily, member 15|(vascular endothelial growth inhibitor)|604052|R, A|||| | ||
9.336|8|10|98|9q32|ZFP37|P|Zinc finger protein-37, mouse, homolog of||602951|REa, A|?candidate for Nager syndrome||| | |4(Zfp37)|
9.337|1|6|93|9q32|AMBP, ITIL, ITI, HCP|C|Alpha-1-microglobulin/bikunin precursor (inter-alpha-trypsin|inhibitor, light chain; protein HC)|176870|REa, A, H|||| | |4(Intin4)|
9.338|1|13|99|9q33.1|DBC1, DBCCR1|P|Deleted in bladder cancer 1||602865|REc|||| | ||
9.339|10|6|09|9q32-q33|EIG3|P|Epilepsy, idiopathic generalized, susceptibility to 3||608762|Fd|||{Epilepsy, idiopathic generalized, susceptibility to, 3} (2)| | ||
9.340|4|23|09|9q33.1|TLR4, ARMD10|C|Toll-like receptor-4||603030|A|||Endotoxin hyporesponsiveness (3); {Macular degeneration, age-related,|10}, 611488 (3); {Colorectal cancer, susceptibility to}, 114500 (3) | ||
9.341|12|24|08|9q33.2|MEGF9, EGFL5|P|Multiple epidermal growth factor-like domains 9||604268|R|||| | ||
9.342|1|7|95|9q33.2|PTGS1, COX1, PGHS1, COX3, PCOX1|P|Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and|cyclooxygenase)|176805|REa, A|||| | ||
9.343|10|11|07|9q32|WHRN, CIP98, KIAA1526, DFNB31, USH2D|C|Whirlin||607928|Fd, REc|||Deafness, autosomal recessive 31, 607084 (3); Usher syndrome, type|2D, 611383 (3) | |4(Whrn)|
9.344|1|8|01|9q33.2|MRFF, RRF|P|Ribosome-recycling factor, mitochondrial||604602|R|||| | ||
9.345|3|29|10|9q33|ASRT8|P|Asthma-related traits, susceptibility to, 8||613207|Fd|associated with rs3789873||{Asthma-related traits, susceptibility to, 8} (2)| | ||
9.346|1|30|01|9q33.2|CEP1, CEP110, FAN|P|Centrosomal protein 1||605496|R|||| | |2(Cep1)|
9.347|5|5|10|9q33.2|DAB2IP, AIP1, KIAA1743|P|DAB2-interacting protein||609205|REc|||| | ||
9.348|8|4|97|9q33.2-q33.3|GPR21|P|G protein-coupled receptor-21||601909|A|||| | ||
9.349|6|11|11|9q33.3|NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8|C|Nuclear receptor subfamily 5, group A, member 1||184757|A|||46XY sex reversal 3, 612965 (3); Premature ovarian failure 7, 612964|(3); Adrenocortical insufficiency (3); Spermatogenic failure 8, 613957 (3) | |2(Ftzf1)|
9.350|10|7|02|9q32|POLE3, CHARAC17, YBL1|P|Polymerase, DNA, epsilon-3||607267|REc|||| | ||
9.351|3|22|93|9q33.1|TNC, HXB|C|Tenascin C (hexabrachion)||187380|REa, A|proximal to ABL||| | |4(Hxb)|
9.352|6|14|99|9q32|TNFSF8, CD30L, CD30LG|P|Tumor necrosis factor ligand superfamily, member 8 (CD30 ligand)||603875|A|||| | |4(Cd30l)|
9.353|8|20|98|9q33.3|GCNF|P|Germ cell nuclear factor||602778|A|||| | ||
9.354|3|15|92|9q33.2|GGTA1, GLYT2|P|Glycoprotein, alpha-galactosyltransferase-1||104175|REa, A|processed pseudogene GGTA1P on 12q14-q15||| | ||
9.355|7|27|11|9q34.12|LAMC3, OCCM|P|Laminin, gamma-3||604349|REc, A|||Cortical malformations, occipital, 614115 (3)| | ||
9.356|6|11|94|9q33.3|PBX3|C|Pre-B-cell leukemia transcription factor-3||176312|A, H|||| | |2(Pbx3)|
9.357|9|29|10|9q34.11|SPTAN1, NEAS, EIEE5|C|Spectrin, alpha, nonerythrocytic-1 (alpha-fodrin)||182810|REa, A|||Epileptic encephalopathy, early infantile, 5, 613477 (3)| | |2(Spna2)|
9.358|3|2|98|9q33.2|TRAF1|P|TNF receptor-associated factor 2||601711|A|||| | ||
9.359|6|30|08|8q24|BMND10|P|Bone mineral density quantitative trait locus 10||612113|Fd|associated with rs6469804 and rs6993813||[Bone mineral density QTL 10] (2)| | ||
9.360|7|12|99|9q33.3|LHX2, LH2|P|LIM/homeodomain protein LHX2||603759|REa, A|||| | ||
9.361|7|13|09|9q33.1|ASTN2, KIAA0634|C|Astrotactin 2||612856|R, REc|||| | ||
9.362|1|8|07|9q33.1|DIPAS|P|DIPLA1, antisense||610689|REc|||| | ||
9.363|7|13|93|9q33.1|PAPPA|P|Pregnancy-associated plasma protein A||176385|A|||| | |4(Pappa)|
9.364|11|22|10|9q33.3|DENND1A, KIAA1608|C|DENN/MADD domain-containing protein 1A||613633|R, REc|||| | ||
9.365|12|10|13|9q33.2|LHX6|P|LIM homeobox gene 6||608215|REc|||| | ||
9.366|3|31|09|9q33.2|RAB14|P|Ras-associated protein||612673|REc|||| | ||
9.367|6|15|99|9q33.2|NDUFA8|C|NADH-ubiquinone oxidoreductase 1 beta subcomplex, 8||603359|R, Psh|||| | ||
9.368|4|25|05|9q33.2|CDK5RAP2, KIAA1633, MCPH3|C|CDK5 regulatory subunit-associated protein 2||608201|REc, Fd|||Microcephaly 3, primary, autosomal recessive, 604804 (3)| | ||
9.369|11|28|05|9q33.3|CRB2|P|Crumbs, Drosophila, homolog of||609720|REc|||| | ||
9.370|1|4|08|9q33.3|GAPVD1, RAP6, GAPEX5, KIAA1521|P|GTPase-activating protein and VPS9 domains 1||611714|REc|||| | ||
9.371|5|25|13|9q33.3|GOLGA1|P|Golgi autoantigen, golgin subfamily A, 1||602502|REc|||| | ||
9.372|5|26|13|9q33.3|MAPKAP1, SIN1, MIP1, JC310|P|Mitogen-activated protein kinase-associated protein 1||610558|REc, R|||| | ||
9.373|5|11|09|9q33.3|MIR181A2, MIRN181A2|P|Micro RNA 181A2||612743|REc|||| | ||
9.374|5|11|09|9q33.3|MIR181B2, MIRN181B2|P|Micro RNA 181B2||612745|REc|||| | ||
9.375|12|23|05|9q33.2|PHF19|P|PHD finger protein 19||609740|REc|||| | ||
9.376|4|15|09|9q33.3|PPP6C|P|Protein phosphatase 6, catalytic subunit||612725|A, REc|highly related sequence on Xq22.3||| | ||
9.377|1|30|12|9q33.3|RALGPS1, RALGEF2, KIAA0351|C|Ral guanine nucleotide exchange factor with PH domain and SH3|domain-binding motif 1|614444|R, REc|||| | ||
9.378|8|21|07|9q33.3|RPL12|P|Ribosomal protein L12||180475|REc|||| | ||
9.379|1|2|08|9q33.3|ZBTB34, KIAA1993|P|Zinc finger- and BTB domain-containing protein 34||611692|REc|||| | ||
9.380|1|19|12|9q33.3|LRSAM1, TAL, RIFLE, CMT2P|P|Leucine-rich repeat- and sterile alpha motif-containing 1||610933|REc|||Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)| | ||
9.381|5|11|00|9q33.3|NEK6|P|Never-in-mitosis gene A-related kinase 6||604884|R|||| | ||
9.382|10|29|99|9q34.3|ABCA2, ABC2|P|ATP-binding cassette 2||600047|A|||| | ||
9.383|10|23|87|9q34.2|ABO|C|ABO blood group||110300|F, Fc|linked to AK1||[Blood group, ABO system] (3)| | ||
9.384|3|5|04|9q34.2|ADAMTS13, VWFCP, TTP|P|A disintegrin-like and metalloprotease with thrombospondin type 1|motif, 13|604134|Fd, REc|||Thrombotic thrombocytopenic purpura, familial, 274150 (3)| | ||
9.385|5|19|09|9q32|ALAD, ALADH, PBGS|C|Aminolevulinate, delta-, dehydratase||125270|F, S, A, REa|linked to ABO; ORM-ALAD-AK-ABO||Porphyria, acute hepatic, 612740 (3); {Lead poisoning,|susceptibility to}, 612740 (3) | |4(Lv)|
9.386|4|8|02|9q34.13|BARHL1|P|BARH-like 1||605211|R|||| | |2(Barh1)|
9.387|4|29|97|9q34.3|CACNA1B, CACNL1A5|C|Calcium channel, voltage-dependent, L type, alpha 1B subunit||601012|A|||| | ||
9.388|10|9|12|9q34.11|CIZ1, ZNF356, LSFR1, NP94|P|CDKN1A-interacting zinc finger protein 1||611420|R, A|||| | ||
9.389|9|24|08|9q34.3|COBRA1, NELFB, KIAA1182|P|Cofactor of BRCA1||611180|R, REc|||| | ||
9.390|10|22|12|9q34|DYT23|L|Dystonia 23||614860|Fd|max lod 2.71 at D9S159 and D9S1818||?Dystonia 23 (2)| | ||
9.391|6|13|12|9q33.2|FBXW2, FBW2, FWD2|P|F-box and WD40 domain protein 2||609071|A|||| | |2(Fbxw2)|
9.392|11|7|08|9q34.13|MED27, CRSP8, CRAP34|P|Mediator complex subunit 27||605044|R|||| | ||
9.393|11|16|10|9q34.2|DBH|C|Dopamine-beta-hydroxylase||609312|F, A|tightly linked to ABO||[Dopamine-beta-hydroxylase activity levels, plasma] (3);|Dopamine beta-hydroxylase deficiency, 223360 (3) | |2(Dbh)|
9.394|6|19|98|9q34.11|DNM1|P|Dynamin-1||602377|A, REa|||| | |2(Dnm1)|
9.395|5|31|07|9q34.11|DYT1, TOR1A|C|Torsin A||605204|Fd|||Dystonia-1, torsion, 128100 (3); Dystonia, early-onset atypical,|with myoclonic features (3); {Dystonia-1, modifier of} (3) | ||
9.396|9|28|00|9q34.3|ENTPD2, CD39L1|P|Ectonucleoside triphosphate diphosphohydrolase 2||602012|Psh, REc|same cosmid as ABC2||| | ||
9.397|2|26|04|9q34.11|FNBP1, FBP17|P|Formin-binding protein 17||606191|Ch, REc|fused with MLL in chronic myeloid leukemia||| | ||
9.398|6|5|97|9q34.3|FCN1|C|Ficolin (collagen/fibrinogen domain-containing) 1||601252|A, Psh|||| | ||
9.399|6|5|97|9q34.3|FCN2|P|Ficolin (collagen/fibrinogen domain-containing lectin) 2||601624|A|||| | ||
9.400|3|3|03|9q34.11|FREQ, NCS1|P|Frequenin, Drosophila, homolog of||603315|REc|||| | ||
9.401|7|17|01|9q34.2|GBGT1, FS|P|Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1|(Forssman synthetase)|606074|REc|||| | ||
9.402|2|9|92|9q33.2|GSN|P|Gelsolin||137350|A, REa, RE|40kb proximal to ABL||Amyloidosis, Finnish type, 105120 (3)| | |2(Gsn)|
9.403|8|5|97|9q33.3|HSPA5, GRP78|C|Heat-shock 70kD protein-5 (glucose-regulated protein, 78kD)||138120|REa, H, Psh, A|||| | |2(Grp78)|
9.404|3|13|08|9q34.11|GLE1, GLE1L, LCCS, LCCS1|C|Gle1, RNA export mediator, S. cerevisiae, homolog of||603371|Fd, REc|||Lethal congenital contracture syndrome 1, 253310 (3); Arthrogryposis,|lethal, with anterior horn cell disease, 611890 (3) | ||
9.405|5|9|12|9q34|KTCN6|P|Keratoconus 6||614623|Fd|max lod at 159cM||Keratoconus 6 (2)| | ||
9.406|10|13|94|9q34.3|LCN1|C|Lipocalin 1 (protein migrating faster than albumin, tear prealbumin)||151675|A, Psh, Fd|||| | |2(Lcn1)|
9.407|11|22|94|9q34.11|LCN2, NGAL|P|Lipocalin 2 (oncogene 24p3)||600181|REa|||| | |2(Lcn2)|
9.408|5|23|05|9q34.3|LCN6|P|Lipocalin 6||609379|REc|||| | ||
9.409|7|22|09|9q34.3|LCN8|P|Lipocalin 8||612902|REc, H|||| | |2(Lcn8)|
9.410|7|22|09|9q34.3|LCN9|P|Lipocalin 9||612903|REc, H|||| | |2(Lcn9)|
9.411|7|22|09|9q34.3|LCN10|P|Lipocalin 10||612904|REc, H|||| | |2(Lcn10)|
9.412|7|22|09|9q34.3|LCN12|P|Lipocalin 12||612905|REc, H|||| | |2(Lcn12)|
9.413|4|23|08|9q34.3|MRPS2|P|Mitochondrial ribosomal protein S2||611971|R, REc|||| | ||
9.414|6|15|99|9q34.11|ODF2, ODF84|P|Outer dense fiber of sperm tails 2||602015|A|||| | ||
9.415|2|28|00|9q34.3|OBP2A|P|Odorant-binding protein 2A||164320|REc|||| | ||
9.416|2|28|00|9q34.2|OBP2B|P|Odorant-binding protein 2B||604606|REc|||| | ||
9.417|9|4|91|9q34.3|PAEP, PP14|C|Progestagen-associated endometrial protein (placental protein 14)||173310|REa, A, H|||| | |2(Paep)|
9.418|10|1|95|9q34.11|PPP2R4, PTPA|P|Protein phosphatase-2A, regulatory subunit B' (PR 53)||600756|A|proximal to ABL||| | ||
9.419|8|18|97|9q34.2|RALGDS|P|ral guanine nucleotide dissociation stimulator||601619|R, REc|||| | ||
9.420|5|24|13|9q33.2|RC3H2, MNAB|P|RING finger and CCCH-type zinc finger domains-containing protein 2||615231|REc|||| | ||
9.421|9|28|05|9q34.2|REXO4, XPMC2H|P|RNA exonuclease 4, S. cerevisiae, homolog of||602930|REc|||| | ||
9.422|12|3|96|9q34.2|RING3L, ORFX|P|RING3-like gene (open reading frame X)||601541|REn|||| | ||
9.423|5|27|93|9q34.2|RPL7A, SURF3|C|Ribosomal protein L7a (surfeit-3)||185640|REa, A|in cluster with SURF1||| | |2(Surf3)|
9.424|7|20|06|9q34.13|SETX, SCAR1, AOA2, ALS4|C|Senataxin||608465|Fd, REc|||Ataxia-ocular apraxia-2, 606002 (3); Amyotrophic lateral sclerosis|4, juvenile, 602433 (3) | ||
9.425|1|4|96|9q34.11|SET|P|SET gene||600960|A|fused with CAIN in acute undifferentiated leukemia||| | ||
9.426|4|4|02|9q34.2|SLC2A6|P|Solute carrier family 2, member 6||606813|REc|||| | ||
9.427|10|12|09|9q34.11|SLC27A4, FATP4, IPS|P|Solute carrier family 27 (fatty acid transporter), member 4||604194|R, REc|||Ichthyosis prematurity syndrome, 608649 (3)| | ||
9.428|2|14|06|9q34.3|SLC34A3, NPTIIC, HHRH|C|Solute carrier family 34 (sodium/phosphate cotransporter), member 3||609826|REc, Fd|||Hypophosphatemic rickets with hypercalciuria, 241530 (3)| | ||
9.429|9|10|07|9q33.3|STRBP, SPNR, p74|P|Spermatid perinuclear RNA-binding protein||611138|A, H|||| | |2(Spnr)|
9.430|5|20|99|9q34.2|SURF1|C|Surfeit-1||185620|REa, A|distal to ABL, CAN||Leigh syndrome, due to COX deficiency, 256000 (3)| | |2(Surf)|
9.431|5|27|93|9q34.2|SURF2|C|Surfeit-2||185630|REa, A|||| | |2(Surf2)|
9.432|5|27|93|9q34.2|SURF4|C|Surfeit-4||185660|REa, A|||| | |2(Surf4)|
9.433|5|27|93|9q34.2|SURF5|C|Surfeit-5||185641|H, A|||| | |2(Surf5)|
9.434|8|25|03|9q34.11|TOR1B, DQ1|P|Torsin 1B||608050|REc|centromeric to TOR1A; pseudogene on chr.2||| | ||
9.435|11|12|02|9q34.13|TSC1, LAM|C|Hamartin (tuberous sclerosis 1 gene)||605284|F, Fd|linked to ABO, ABL||Tuberous sclerosis-1, 191100 (3); Lymphangioleiomyomatosis, 606690|(3); Focal cortical dysplasia, Taylor balloon cell type, 607341 (3) | ||
9.436|5|27|93|9q34.2|SURF6|C|Surfeit-6||185642|H, A|||| | |2(Surf6)|
9.437|5|14|95|9q34.2|VAV2|P|Oncogene VAV2||600428|RE|||| | ||
9.438|7|13|93|9q33.3|ZNF79|P|Zinc finger protein-79 (pT7)||194552|REa|||| | ||
9.439|1|19|07|9q34-qter|SCAR2, CPD3|P|Spinocerebellar ataxia, autosomal recessive 2||213200|Fd|between D9S67 and D9S312||Spinocerebellar ataxia, autosomal recessive 2 (2)| | ||
9.440|3|3|03|9q34.12|ABL1|C|Abelson murine leukemia viral (v-abl) oncogene homolog 1||189980|REa, Ch, A|fusion hybrid gene with BCR1 in CML||Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)| | |2(Abl)|
9.441|2|23|09|9q34.11|AK1|C|Adenylate kinase-1||103000|F, S, D, Fc|proximal to Ph1 break, 9q34.1; AK1 to ORM = 17cM||Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)| | |2(Ak1)|
9.442|9|28|09|9q34.11|ASS1, ASS|C|Argininosuccinate synthetase 1||603470|S, D, REa, Fd|14 pseudogenes on 11 chromosomes, including X and Y and ASSP2 on|6p23-q12|Citrullinemia, 215700 (3)| | |2(Ass1)|
9.443|3|2|11|9q33.2|C5|C|Complement component-5||120900|REa, A|||C5 deficiency, 609536 (3)| | |2(Hc)|
9.444|11|5|98|9q34.11|CDK9, CDC2L4|P|Cyclin-dependent kinase-9||603251|Psh|||| | ||
9.445|1|27|09|9q34.1|CLLS3|P|Leukemia, chronic lymphocytic, susceptibility to, 3||612557|Fd|associated with SNP -6531 upstream of DAPK1 promoter||{Leukemia, chronic lymphocytic, susceptibility to, 3} (2)| | ||
9.446|11|22|94|9q34.11|CRAT, CAT1|P|Carnitine acetyltransferase||600184|REa|||?Carnitine acetyltransferase deficiency (1)| | ||
9.447|10|14|95|9q21.33|DAPK1|P|Death-associated protein kinase-1||600831|REa, A|||| | ||
9.448|3|29|12|9q34.11|DOLPP1, LSFR2|P|Dolichyl pyrophosphate phosphatase 1||614516|R, A|||| | ||
9.449|3|9|95|9q34.11|ENDOG|P|Endonuclease G||600440|Psh, A|||| | ||
9.450|10|13|97|9q34.11|ENG, END, HHT1, ORW|C|Endoglin||131195|A, H, Fd|||Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)| | |2(Eng)|
9.451|6|11|94|9q33.2|EPB72|C|Erythrocyte membrane protein band 7.2 (stomatin)||133090|REa, Ch, A|proximal to ABL||?Stomatocytosis I, 185000 (1)| | |2(Epb7.2)|
9.452|6|7|10|9q34.12|FIBCD1|P|Fibrinogene C domain-containing protein 1||613357|REc|||| | ||
9.453|6|1|09|9q33.3|LMX1B, NPS1|C|LIM homeo box transcription factor 1, beta||602575|F, Fd, Ch|||Nail-patella syndrome, 161200 (3)| | |2(Lmx1b)|
9.454|11|22|04|9q34.13|NUP214, D9S46E, CAN, CAIN|C|Nucleoporin, 214kD||114350|Ch|fused with DEK in AML; fused with ABL1 in T-ALL||Leukemia, acute myeloid, 601626 (3); Leukemia, T-cell acute|lymphoblastic (3) | |2(D2H9S46E)|
9.455|11|10|10|9q34.13|POMT1, MDDGA1, MDDGB1, MDDGC1|C|Protein O-mannosyltransferase 1||607423|R, REa, Fd|||Muscular dystrophy-dystroglycanopathy (congenital with brain and eye|anomalies), type A, 1, 236670 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3); Muscular|dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3) ||
9.456|2|6|01|9q34.11|PRRX2, PRX2|P|Paired-related homeo box gene 2||604675|A|||| | ||
9.457|8|29|08|9q34.11|STXBP1, UNC18, EIEE4|C|Syntaxin-binding protein 1||602926|A|||Epileptic encephalopathy, early infantile, 4, 612164 (2)| | ||
9.458|8|20|88|9q32|ORM1, AGP1|C|Orosomucoid-1 (alpha-1-acid glycoprotein-1)||138600|F, S, REa, Fc, A|linked to ABO, AK1, ALAD||| | |4(Orm1)|
9.459|8|20|88|9q32|ORM2|C|Orosomucoid-2||138610|RE, LD|||| | |4(Orm2)|
9.460|1|31|13|9q34.11|ASB6|P|Ankyrin repeat- and SOCS box-containing protein 6||615051|REc|||| | ||
9.461|12|29|06|9q34.11|C9orf90, NAIF1|P|Nuclear apoptosis-inducing factor 1||610673|REc|||| | ||
9.462|12|29|06|9q34.11|CCBL1|C|Cysteine conjugate beta-lyase 1||600547|Psh, REc|||| | ||
9.463|1|31|13|9q34.11|DPM2, CDG1U|P|Dolichyl-phosphate mannosyltransferase 2, regulatory subunit||603564|REc|||Congenital disorder of glycosylation, type Iu, 615042 (3)| | ||
9.464|9|2|12|9q34.11|MIR199B|P|Micro RNA 199B||614791|REc|||| | ||
9.465|7|8|10|9q34.11|MIR2861, MIRN2861, BMND15|P|Micro RNA 2861||613405|REc|||[Bone mineral density QTL 15], 613418 (3)| | ||
9.466|1|6|14|9q34.11|NUP188, KIAA1069|C|Nucleoporin, 188kD||615587|R, REc|||| | ||
9.467|7|13|09|9q34.11|PIP5KL1, PIPKH|P|Phosphatidylinositol-4-phosphate-5-kinase-like 1||612865|REc|||| | ||
9.468|2|22|07|9q34.11|TMEM15, DK1, SEC59, KIAA1094, CDG1M|P|Transmembrane protein 15||610746|R, REc|||Congenital disorder of glycosylation, type Im, 610768 (3)| | ||
9.469|2|7|07|9q34.11|PKN3|P|Protein kinase N3||610714|REc|||| | ||
9.470|8|23|12|9q34.11|SH2D3C, NSP3|P|SH2 domain-containing protein 3C||604722|REc|||| | ||
9.471|1|29|07|9q34.11|TRUB2|P|TRUB pseudouridine synthase, E. coli, homolog of, 2||610727|REc|||| | ||
9.472|3|31|09|9q34.11|URM1|P|Ubiquitin-related modifier 1, S. cerevisiae, homolog of||612693|REc|||| | ||
9.473|4|8|13|9q34.11|USP20, VDU2|P|Ubiquitin-specific protease 20||615143|REc|||| | ||
9.474|4|20|10|9q34.11|WDR34|P|WD repeat-containing protein 34||613363|REc|||| | ||
9.475|5|25|13|9q34.11-q34.12|FUBP3, FBP3|P|FAR upstream element-binding protein 3||603536|REc|||| | ||
9.476|8|17|99|9q33.3|PSMB7|P|Proteasome subunit, beta-type, 7||604030|A|||| | ||
9.477|6|1|12|9q34.12|EXOSC2, RRP4|P|Exosome component 2||602238|REc|||| | ||
9.478|9|16|12|9q34.12|QRFP, P518, 26RFA|P|Pyroglutamylated FR-amide peptide precursor protein||609795|REc|||| | ||
9.479|8|11|13|9q34.13|AK8|P|Adenylate kinase 8||615365|REc|||| | ||
9.480|11|7|08|9q34.13|ALPQTL1|P|Alkaline phosphatase, plasma level of, QTL 1||171720|Fd|linkage with rs657152||{Alkaline phosphatase, plasma level of, QTL1} (2)| | ||
9.481|7|22|09|9q34.11|COQ4|P|Coenzyme Q4, S. cerevisiae, homolog of||612898|REc|||| | ||
9.482|3|29|07|9q34.11|FAM102A, EEIG1|P|Family with sequence similarity 102, member A||610891|REc|||| | ||
9.483|9|8|11|9q33.3-q34.1|FAM129B, MINERVA|P|Family with sequence similarity 129, member B||614045|REc|||| | ||
9.484|2|2|01|9q34.13|GFI1B|P|Growth factor-independent 1B||604383|REc|||| | ||
9.485|8|10|10|9q34.11|LRRC8A, KIAA1437, AGM5|C|Leucine-rich repeat-containing 8A||608360|REc, R, Ch|||Agammaglobulinemia 5, 613506 (3)| | |2(Lrrc8)|
9.486|3|22|07|9q34.11|PTGES2, PGES2, GBF1|C|Prostaglandin E synthase 2||608152|REc, REn|||| | ||
9.487|8|31|11|9q34.2|ADAMTSL2, KIAA0605, GPHYSD1|P|ADAMTS-like protein 2||612277|R, REc|||Geleophysic dysplasia 1, 231050 (3)| | ||
9.488|11|11|09|9q34.2|C9orf7, FLOWER|P|Flower, Drosophila, homolog of||613104|REc|||| | ||
9.489|7|1|05|9q34.13|UCK1|P|Uridine/cytidine kinase 1||609328|REc|||| | ||
9.490|1|31|13|9q34.2|SARDH, SARD, SAR|P|Sarcosine dehydrogenase||604455|H, REc|||[Sarcosinemia], 268900 (3)| | |2(sar)|
9.491|8|2|13|9q34.2|TMEM8C, MYOMAKER|P|Transmembrane protein 8C||615345|REc|||| | ||
9.492|6|18|97|9q34.3|COL5A1|C|Collagen V, alpha-1 polypeptide||120215|REa, A, Fd|||Ehlers-Danlos syndrome, type II, 130010 (3); Ehlers-Danlos syndrome,|type I, 130000 (3) | |2(Col5a1)|
9.493|6|11|94|9q34.3|PTGDS|C|Prostaglandin D2 synthase (21kD, brain)||176803|A, H|distal to ABL||| | |2(Ptgds)|
9.494|5|5|04|9q34.3|AGPAT2, LPAAB, BSCL, BSCL1|C|1-acylglycerol-3-phosphate O-acyltransferase 2|(lysophosphatidic acid acyltransferase-beta)|603100|A, Fd|||Lipodystrophy, congenital generalized, type 1, 608594 (3)| | ||
9.495|11|26|97|9q34.3|C8G|C|Complement component-8, gamma polypeptide||120930|REa, H, Fd|||| | |2(C8g)|
9.496|3|29|12|9q34.3|C9orf116, PIERCE1|P|p53-induced expression in RB-null cells 1||614502|REc, H|||| | |2(Pierce1)|
9.497|6|10|08|9q34.3|C9orf140, P42.3|P|Chromosome 9 open reading frame 140||612057|REc, H|||| | |2(P42.3)|
9.498|3|24|11|9q34.3|CAMSAP1|P|Calmodulin-regulated spectrin-associated protein 1||613774|REc|||| | ||
9.499|4|26|10|9q34.3|CARD9, CANDF2|P|Caspase recruitment domain-containing protein 9||607212|REc|||Candidiasis, familial, 2, autosomal recessive, 212050 (3)| | ||
9.500|11|30|06|9q34.2|CEL, BSSL, CELL, MODY8|C|Carboxyl-ester lipase (bile-salt stimulated lipase)||114840|REa, A|||Maturity-onset diabetes of the young, type VIII, 609812 (3)| | ||
9.501|5|26|13|9q34.3|DPP7, QPP|P|Dipeptidyl peptidase VII||610537|R, REc|||| | ||
9.502|11|12|09|9q34.3|EGFL7|P|Epidermal growth factor-like 7||608582|A, R|||| | |2(Egfl7)|
9.503|2|16|10|9q34.3|EHMT1, EUHMTASE1, DEL9q34|C|Euchromatic histone methyltransferase 1||607001|REc, Ch|||Kleefstra syndrome, 610253 (3)| | ||
9.504|4|2|12|9q34.3|FAM69B|P|Family with sequence similarity 69, member B||614543|REc|||| | ||
9.505|6|13|12|9q34.3|FBXW5, FBW5|P|F-box and WD40 domain protein 5||609072|REc|||| | |2(Fbxw5)|
9.506|9|28|11|9q34.3|GRIN1, NMDAR1, MRD8|C|Glutamate receptor, ionotropic, N-methyl D-aspartate 1||138249|REb, A, Fd|||Mental retardation, autosomal dominant 8, 614254 (3)| | ||
9.507|1|20|11|9q34.3|GLT6D1, GT6M7, GLTDC1|P|Glycosyltransferase 6 domain-containing 1||613699|REc|||| | ||
9.508|10|12|09|9q34.3|INPP5E, MORMS, JBTS1, CORS1|P|Inositol polyphosphate-5-phosphatase, 72kD||613037|REc|||Mental retardation, truncal obesity, retinal dystrophy, and|micropenis, 610156 (3); Joubert syndrome 1, 213300 (3) | ||
9.509|1|9|13|9q34.3|KCNT1, KIAA1422, EIEE14, ENFL5|P|Potassium channel, subfamily T, member 1||608167|R, REc|||Epileptic encephalopathy, early infantile, 14, 614959 (3); Epilepsy,|nocturnal frontal lobe, 5, 615005 (3) | ||
9.510|10|2|09|9q34.3|LHX3, CPHD3|P|LIM/homeodomain protein LHX3||600577|H, A, REa|in mouse, close to Notch1; centromeric to ABL||Pituitary hormone deficiency, combined, 3, 221750 (3)| | |2(Lhx3)|
9.511|12|15|10|9q34.3|LRRC26, CAPC|P|Leucine-rich repeat-containing protein 26||613505|REc|||| | ||
9.512|9|1|11|9q34.3|MAN1B1, MRT15|P|Mannosidase, alpha, class 1B member 1||604346|REc|||Mental retardation, autosomal recessive 15, 614202 (3)| | ||
9.513|3|23|09|9q34.3|MIR126, MIRN126|P|Micro RNA 126||611767|REc|||| | ||
9.514|3|5|08|9q34.3|MRPL41, MRPL27|P|Mitochondrial ribosomal protein L41||611846|R, REc|||| | ||
9.515|3|14|13|9q34.3|NSMF, NELF, HH9|C|NMDA receptor synaptonuclear signaling and neuronal migration factor||608137|R, REc|||Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3)| | ||
9.516|7|5|07|9q34.3|NOTCH1, TAN1|C|Notch, Drosophila, homolog of, 1, translocation-associated||190198|Ch, H, A|||Aortic valve disease, 109730 (3); Leukemia, T-cell acute|lymphoblastic (2) | |2(Notch1)|
9.517|5|26|13|9q34.3|NOXA1|P|NADPH oxidase activator 1||611255|REc|||| | |2(Noxa1)|
9.518|7|17|01|9q34.3|NR1|P|NADPH-dependent FMN- and FAD-containing oxidoreductase||606073|A|||| | ||
9.519|11|30|06|9q34.3|PARF, C9orf86|P|Partner of ARF||610615|R, REc|||| | ||
9.520|7|3|06|9q34.3|PHPT1|P|Phosphohistidine phosphatase 1||610167|REc|||| | ||
9.521|9|28|09|9q34.3|PMPCA, KIAA0123|P|Peptidase, mitochondrial processing, alpha||613036|REc|||| | ||
9.522|8|27|08|9q34.3|PNPLA7|P|Patatin-like phospholipase domain containing 7||612122|REc|||| | ||
9.523|6|1|12|9q34.3|PPP1R26, KIAA0649|P|Protein phosphatase 1, regulatory subunit 26||614056|REc, R|||| | ||
9.524|8|23|00|9q34.11|PTGES, PGES, PIG12, MGST1L1|P|Prostaglandin E synthase||605172|A|||| | ||
9.525|7|13|09|9q34.3|QSOX2, SOXN|P|Quiescin Q6 sulfhydryl oxidase 2||612860|A|||| | ||
9.526|3|14|07|9q34.13|RAPGEF1, GRF2, C3G|P|RAP guanine nucleotide exchange factor 1||600303|A|||| | ||
9.527|5|19|94|9q34.2|RXRA|C|Retinoid X receptor, alpha||180245|Psh, A|distal to DBH||| | |2(Rxra)|
9.528|7|13|09|9q34.3|SEC16A, SEC16L, KIAA0310, p250|P|Sec16, S. Cerevisiae, homolog of, A||612854|R, REc|||| | ||
9.529|10|2|12|9q34.3|SNAPC4, SNAP190|P|Small nuclear RNA-activating protein complex, polypeptide 4||602777|REc|||| | ||
9.530|4|17|07|9q34.3|SSNA1, NA14|P|Sjogren syndrome nuclear autoantigen 1||610882|REc|||| | ||
9.531|4|20|10|9q34.3|TPRN, C9orf75, DFNB79|P|Taperin||613354|REc, H, Fd|||Deafness, autosomal recessive 79, 613307 (3)| | |2(Tprn)|
9.532|3|14|13|9q34.3|TUBB4B, TUBB2C|P|Tubulin, beta-4B||602660|REc|||| | ||
9.533|4|1|09|9q34.3|UBAC1, GBDR1|P|Ubiquitin-associated domain-containing protein 1||608129|Psh, REc|||| | ||
9.534|2|18|10|9q34.3|WDR85|P|WD repeat-containing protein 85||613210|REc|||| | ||
9.535|9|18|08|9q34.3|ZMYND19, MIZIP|P|Zinc finger MYND domain-containing protein 19||611424|REc, H|||| | |2(Zmynd19)|
9.536|5|16|02|9q34.3|ANAPC2, APC2, KIAA1406|P|Anaphase-promoting complex, subunit 2||606946|R|||| | ||
9.537|4|30|03|9q32|ATP6V1G1, ATP6G1|P|ATPase, H+ transporting, lysosomal, 13kD, V1 subunit G, isoform 1||607296|R|||| | ||
9.538|1|24|01|9q31.1|CAPE|P|Chromosome-associated protein E||605576|R|||| | ||
9.539|12|27|01|9q34.3|CLIC3|P|Chloride intracellular channel 3||606533|R|||| | ||
9.540|2|28|03|9p13.3|CREB3, LZIP|P|cAMP response element-binding protein 3||606443|R|||| | ||
9.541|7|15|02|9q22.32|FBP2|P|Fructose-1,6-bisphosphatase 2||603027|R|||| | ||
9.542|3|5|98|9q34.3|FUT7|P|Fucosyltransferase 7 (alpha (1,3) fucosyltransferase)||602030|REa|||| | ||
9.543|10|23|87|Chr.9|H142T|P|Temperature sensitivity complementation, H142||187290|S|||| | ||
9.544|6|13|02|9p13.2|MELK, KIAA0175|P|Maternal embryonic leucine zipper kinase||607025|REa|||| | |4(Melk)|
9.545|1|30|01|9p24.1|MLANA, MART1|P|Melan A||605513|R|||| | ||
9.546|8|27|01|9q34.3|NPDC1, CAB1|P|Neural proliferation, differentiation, and control protein 1||605798|R|||| | ||
9.547|12|23|02|9q22.33|NANS, SAS|P|N-acetylneuraminic acid synthase (sialic acid synthase)||605202|R|||| | ||
9.548|12|14|01|9q34.3|OLFM1, AMY|P|Olfactomedin 1||605366|R|||| | ||
9.549|5|4|00|9q33.2|PDCL|P|Phosducin-like||604421|REa, R|||| | ||
9.550|5|4|00|9q33.2|PSMD5, S5B|P|Proeasome 26s subunit, non-ATPase, 5||604452|REa|||| | ||
9.551|1|28|02|9q31.2|RAD23B|P|RAD23 (Saccharomyces cerevisiae) homolog of, B||600062|A, RE|previously 3p25.1||| | |4(Rad23b)|
9.552|2|21|03|9q32|ROD1|P|Regulator of differentiation 1||607527|R|||| | ||
9.553|11|15|00|9q33.3|SLC2A8, GLUT8|P|Solute carrier family 2, (facilitated glucose transporter) member 8||605245|R|||| | ||
9.554|4|26|01|9p13.3|UNC13, MUNC13|P|UNC13, C. elegans, homolog of||605836|R|||| | ||
10.1|3|6|94|10p15.1|CALML3|P|Calmodulin-like 3||114184|REa, Psh, A|||| | ||
10.2|10|15|97|10p13|PHYH, PAHX|P|Phytanoyl-CoA hydroxylase||602026|LD, R|||Refsum disease, 266500 (3)| | ||
10.3|1|23|96|10pter-p11.2|RDPA|P|Refsum disease, adult, with increased pipecolicacidemia||600964|Fd, LD|?relation to PHYH||Refsum disease, adult, with increased pipecolicacidemia (2)| | ||
10.4|3|6|00|10pter-q11|ST12, PAC1|P|Suppression of tumorigenicity 12, prostate||601188|M|||Prostate adenocarcinoma (2)| | ||
10.5|8|29|07|10p15.3|DIP2C, KIAA0934|C|Disco-interacting protein 2, Drosophila, homolog of, C||611380|R, REc|||| | ||
10.6|2|9|92|10p15.2|PFKP|C|Phosphofructokinase, platelet type||171840|S, A, D|||| | ||
10.7|1|31|13|10p15.1|ASB13|P|Ankyrin repeat- and SOCS box-containing protein 13||615055|REc|||| | ||
10.8|8|26|09|10p14|ATP5C1, ATP5CL1, ATP5C|P|ATP synthase, H+ transporting, mitochondrial F1 complex, gamma|polypeptide-1|108729|REa, REc|||| | ||
10.9|9|9|08|10p15.1|FBXO18, FBH1, FBX18|P|F-box only protein 18||607222|REc|||| | |2(Fbxo18)|
10.10|1|20|09|10p15.1|IL2RA, IL2R, IDDM10|C|Interleukin-2 receptor||147730|REa, A, Fd, LD|||Interleukin-2 receptor, alpha chain, deficiency of, 606367 (3);|{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3) | |2(Il2ra)|
10.11|2|23|09|10p15.1|MS2|P|Multiple sclerosis, susceptibility to, 2||612594|Fd|associated with rs12722489 and rs2104286||{Multiple sclerosis, susceptibility to, 2} (2)| | ||
10.12|9|17|07|10p15.1|RBM17, SPF45|P|RNA binding motif protein 17||606935|REc|||| | ||
10.13|7|9|09|10p13|TRDMT1, DMNT2|C|tRNA aspartic acid methyltransferase 1 (DNA methyltransferase 2)||602478|R, A|||| | ||
10.14|3|6|98|10p15.3|ADARB2, RED2|P|Adenosine deaminase, RNA-specific, B2 (homolog of rat BLUE)||602065|REa|||| | ||
10.15|8|3|11|10p14|GATA3, HDR, HDRS|C|GATA-binding protein-3||131320|A, Ch|||Hypoparathyroidism, sensorineural deafness, and renal dysplasia,|146255 (3) | |2(Gata3)|
10.16|1|13|99|10p15.1|GDI2, RABGDIB|P|GDP dissociation inhibitor 2||600767|A|pseudogene on chr.7||| | ||
10.17|9|9|13|10p15.3|IDI1|P|Isopentenyl-diphosphate delta isomerase 1||604055|REc|||| | |13(Idi1)|
10.18|9|9|13|10p15.3|IDI2, IPPI2|P|Isopentenyl-diphosphate delta isomerase 2||615389|REc|||| | |13(Idi2)|
10.19|9|9|13|10p15.3|IDI2AS1|P|IDI2 antisense RNA 1, noncoding||615391|REc|||| | ||
10.20|10|6|92|10p14|ITIH2|C|Inter-alpha (globulin) inhibitor, H2 polypeptide||146640|A, H|||| | |2(Intin2)|
10.21|12|20|05|10p14|ITIH5|P|Inter-alpha-trypsin inhibitor, heavy chain 5||609783|REc|||| | ||
10.22|10|7|05|10p15.1|KLF6, COPEB, BCD1, ZF9|C|Kruppel-like factor-6||602053|REa, A|||Prostate cancer, somatic, 176807 (3); Gastric cancer, somatic,|613659 (3) | ||
10.23|8|2|13|10p15|PFFE1|P|Plasmodium falciparum fever episodes QTL1||611384|Fd|||{Plasmodium falciparum fever episodes QTL1} (2)| | ||
10.24|9|27|95|10p15-p14|PRKCQ|P|Protein kinase C, theta||600448|A|||| | |2(Pkcq)|
10.25|8|18|99|10p15.1|AKR1C1, DDH1, DD1, HAKRC|P|Aldo-keto reductase family 1, member 1 (dihydrodiol dehydrogenase,|type 1)|600449|Psh, A|||| | ||
10.26|10|10|11|10p15.1|AKR1C2, DDH2, DD2, HAKRD, SRXY8|P|Aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase,|type II)|600450|Psh, A|||Obesity, hyperphagia, and developmental delay (3); 46XY sex|reversal 8, 614279 (3) | ||
10.27|8|18|99|10p15.1|AKR1C3, HAKRB, DD3|P|Aldo-keto reductase family 1, member C3||603966|REa, A|||| | ||
10.28|10|10|11|10p15.1|AKR1C4, CHDR, CDR, HAKRA, DD4|P|Aldo-keto reductase family 1, member C4 (chlordecone reductase)||600451|REa, A|||{46XY sex reversal 8, modifier of}, 614279 (3)| | ||
10.29|2|15|96|10p15.1|IL15RA|P|Interleukin-15 receptor, alpha||601070|A|||| | |2(Il15ra)|
10.30|2|26|01|10p14|KIN, KIN17, BTCD|P|Antigenic determinant of recombination protein A, mouse, homolog of||601720|A|||| | |2(kin17)|
10.31|7|26|10|10p13|OPTN, GLC1E, FIP2, HYPL, NRP, ALS12|C|Optineurin||602432|Fd|||Glaucoma 1, open angle, E, 137760 (3); {Glaucoma, normal tension,|susceptibility to}, 606657 (3); Amyotrophic lateral sclerosis 12, 613435 (3) | ||
10.32|1|31|01|10p15.1|PFKFB3, IPFK2|P|6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3||605319|A|||| | ||
10.33|3|11|03|10p14|UPF2, RENT2|P|UPF2 regulator of nonsense transcripts, yeast, homolog of||605529|R|||| | ||
10.34|8|20|08|10p14|CRCS5|P|Colorectal cancer, susceptibility to, 5||612230|Fd|associated with rs10795668||{Colorectal cancer, susceptibility to, 5} (2)| | ||
10.35|1|17|13|10p14|DHTKD1, KIAA1630, AMOXAD, CMT2Q|P|Dehydrogenase E1 and transketolase domains-containing protein 1||614984|Psh, REc|||2-aminoadipic 2-oxoadipic aciduria, 204750 (3);|Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3) | ||
10.36|10|11|12|10p14|TAF3, TAFII140|P|TAF3 RNA polymerase II, TATA box-binding protein-associated factor,|140kD|606576|REc|||| | ||
10.37|11|15|08|10p12.1|YME1L1, YME1L, PAMP|P|Mitocondrial escape 1-like 1||607472|REc|||| | ||
10.38|9|9|13|10p14|SFMBT2, KIAA1617|P|SCM-like protein with 4 MBT domains 2||615392|REc|||| | |2(Sfmbt2)|
10.39|9|2|96|10p14-p13|DGCR2, DGS2|C|DiGeorge syndrome chromosome region-2||601362|Ch|||DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)| | ||
10.40|3|14|07|10p12.33|PTPLA|P|Protein tyrosine phosphatase-like (proline instead of catalytic|arginine), member A|610467|REc|||| | ||
10.41|3|2|98|10p12.33|STAM|P|Signal transducing adaptor molecule||601899|A|||| | |2(Stam)|
10.42|1|6|00|10p14-p12|ARVD6|P|Arrhythmogenic right ventricular dysplasia 6||604401|Fd|||Arrhythmogenic right ventricular dysplasia 6 (2)| | ||
10.43|12|15|05|10p13|AD7|P|Alzheimer disease 7||606187|Fd|max LOD at D10S1423||Alzheimer disease-7 (2)| | ||
10.44|5|26|13|10p13|ARMETL1, CDNF|P|Arginine-rich protein mutated in early stage tumors-like 1||611233|REc|||| | ||
10.45|11|4|93|10p12.2|BMI1|P|Oncogene BMI-1||164831|A|||| | ||
10.46|12|18|07|10p13|C10orf97, CARP|P|CARD-containing protein||611649|REc|||| | ||
10.47|5|13|13|10p13|C1QL3, CTRP13, K100|P|Complement component 1, q subcomponent-like 3||615227|REc, H|||| | |1(C1ql3)|
10.48|8|2|13|10p14|CELF2, CUGBP2, ETR3, BRUNOL3|P|CUGbp- and ELAV-like family, member 2||602538|REc|||| | ||
10.49|2|16|06|10p13|LPRS|C|Leprosy, paucibacillary type, susceptibility to||609888|Fd|||{Leprosy, paucibacillary type, susceptibility to} (2)| | ||
10.50|5|16|05|10p13|MCM10, CNA43|P|Minichromosome maintenance 10, S. cerevisiae, homolog of||609357|R, REc|||| | ||
10.51|9|6|11|10p13|MEIG1|P|Meiosis-expressed gene 1, mouse, homolog of||614174|REc|||| | ||
10.52|10|14|94|10p12.33|MRC1, MMR|P|Mannose receptor, C type 1||153618|Psh, A|||| | |2(Mrc1)|
10.53|9|17|08|10p13|NMT2|P|N-myristoyltransferase 2||603801|REc|||| | ||
10.54|8|26|09|10p13|PRPF18, PRP18|P|Prp18, S. cerevisiae, homolog of||604993|R, REc|||| | ||
10.55|8|26|09|10p13|RPP38|P|Ribonuclease P, 38-kD subunit||606116|R, REc|||| | ||
10.56|8|26|09|10p13|RSU1|P|Ras suppressor protein 1||179555|REa, REc|||| | ||
10.57|3|24|11|10p13|SEPHS1, SPS1|P|Selenophosphate synthetase 1||600902|REc|||| | ||
10.58|8|26|09|10p13|SUV39H2, FLJ23414|P|Suppressor of variegation 3-9, Drosophila, homolog of, 2||606503|R, REc|||| | |2(Suv39h2)|
10.59|8|25|04|10p14|USP6NL, RNTRE|P|USP6 N-terminal-like||605405|Ch|||| | ||
10.60|7|22|13|10p13|VIM, CTRCT30|C|Vimentin||193060|REa|||Cataract 30, pulverulent, 116300 (3)| | |2(Vim)|
10.61|1|12|09|10p12.31|NEBL|C|Nebulette||605491|R, A|||| | ||
10.62|6|4|10|10p11.22|ARHGAP12|P|Rho GTPase-activating protein 12||610577|REc|||| | ||
10.63|1|23|13|10p12.31|ARL5B, ARL8|P|ADP-ribosylation factor-like 5B||608909|REc|||| | ||
10.64|8|19|13|10p12.31|DNAJC1, HTJ1|P|DNAJ/HSP40 homolog, subfamily C, member 1||611207|REc, R|||| | ||
10.65|5|6|13|10p12.31|MIR1915|P|Micro RNA 1915||615202|REc|||| | ||
10.66|3|22|06|10p12.1|ARHGAP21, KIAA1424|P|GTPase-activating protein, Rho, 21||609870|REc|pseudogene on chr.6||| | ||
10.67|3|3|10|10p12.31|EBLN1|P|Endogenous Borna-like N element-containing protein 1||613249|REc|||| | ||
10.68|9|9|08|10p13|HSPA14, HSP70L1|P|Heat-shock 70kD protein 14||610369|REc|||| | ||
10.69|11|30|06|10p12.31|PLXDC2, TEM7R|P|Plexin domain containing 2||606827|R|||| | ||
10.70|7|19|06|10p12.1|BAMBI, NMA|P|BMP and activin membrane-bound inhibitor, xenopus, homolog of||604444|Psh, A|||| | ||
10.71|5|31|05|10p12.2|PTF1A|C|Pancreas transcription factor 1, alpha subunit||607194|REc, Fd|||Diabetes mellitus, permanent neonatal, with cerebellar agenesis,|609069 (3) | ||
10.72|5|26|13|10p12.2|ARMC3|P|Armadillo repeat-containing protein 3||611226|REc|||| | ||
10.73|6|5|08|10p12.2|OTUD1, DUBA7|P|OTU domain-containing protein 1||612022|REc|||| | ||
10.74|9|12|08|10p12.2|PIP5K2A, PI5P4KA|P|Phosphatidylinositol-4-phosphate 5-kinase, type II, alpha||603140|R, REc|||| | ||
10.75|2|24|11|10p12.1|ANKRD26, KIAA1074, THC2|P|Ankyrin repeat domain-containing protein 26||610855|REc|||Thrombocytopenia 2, 188000 (3)| | |6(Ankrd26)|
10.76|10|15|13|10p12.1|ARMC4, CILD23|P|Armadillo repeat-containing protein 4||615408|REc|||Ciliary dyskinesia, primary, 23, 615451 (3)| | ||
10.77|8|20|07|10p12.1|C10orf63|P|Enkurin, mouse, homolog of||611025|REc|||| | |2(4933434I06Rik)|
10.78|2|21|03|10p13|CUBN, IFCR, MGA1|C|Cubilin (intrinsic factor-cobalamin receptor)||602997|A, R, REc|||Megaloblastic anemia-1, Finnish type, 261100 (3)| | ||
10.79|4|19|12|10p12.1|GPR158, KIAA1136|P|G protein-coupled receptor 158||614573|REc|||| | |2(Gpr158)|
10.80|1|27|04|10p12.1|MASTL, FLJ14813, GWL, THC2|P|Microtubule-associated serine/threonine kinase-like||608221|Fd, REc|||Thrombocytopenia-2, 188000 (3)| | ||
10.81|4|1|09|10p12.1|MKX, IFRX, IRXL1|P|Mohawk homeobox||601332|Psh, Fd|||| | |18(Mkx)|
10.82|5|21|07|10p12.1|MPP7|P|Membrane protein, palmitoylated 7||610973|REc|||| | ||
10.83|5|24|12|10p12.1|PDSS1, TPT, COQ1, COQ10D2|P|Prenyl diphosphate synthase, subunit 1||607429|R, REc|||Coenzyme Q10 deficiency, primary, 2, 614651 (3)| | ||
10.84|2|12|07|10p12.1|PRTFDC1|P|Phosphoribosyl transferase domain-containing protein 1||610751|R, REc|||| | ||
10.85|2|14|08|10p12.1|PTCHD3|P|Patched domain-containing protein 3||611791|REc|||| | ||
10.86|9|17|11|10p12.1|RAB18, WARBM3|P|Ras-associated protein RAB18||602207|H, REc|||Warburg micro syndrome 3, 614222 (3)| | |18(Rab18)|
10.87|5|26|13|10p12.1|THNSL1, TSH1|P|Threonine synthase-like 1||611260|REc|||| | ||
10.88|3|6|94|10p11.21|CREM|P|cAMP-responsive element modulator||123812|A|||| | |18(Crem)|
10.89|1|31|13|10p12.1|WAC, KIAA1844|P|WW domain-containing adaptor with coiled-coil region||615049|REc|||| | ||
10.90|6|19|98|10p12.31|AF10|C|ALL1 fused gene from chromosome 10||602409|A, Ch|fuses with CALM||Leukemia, acute myeloid, 601626 (3); Leukemia, acute T-cell|lymphoblastic (3) | ||
10.91|3|5|08|10p12.33-p12.31|CACNB2|C|Calcium channel, voltage-dependent, beta 2 subunit||600003|A, REc|||Brugada syndrome 4, 611876 (3)| | ||
10.92|3|24|11|10p12.2|MSRB2, CBS1|P|Methionine sulfoxide reductase B2||613782|R|||| | ||
10.93|5|25|00|10p11.22|NRP1, NRP, VEGF165R|P|Neuropilin 1||602069|REa, R|||| | ||
10.94|5|4|00|10p13|PTER|P|Phosphotriesterase-related protein||604446|A|||| | ||
10.95|3|19|01|10p12.2|SPAG6|P|Sperm-associated antigen 6||605730|A|||| | ||
10.96|3|9|95|10p12.1|GAD2|C|Glutamate decarboxylase-2, pancreas||138275|A|||| | |2(Gad2)|
10.97|5|12|09|10p11.23|LYZL2|P|Lysozyme-like 2||612748|REc|||| | ||
10.98|12|16|10|10p11.23|MTPAP, PAPD1, SPAX4|P|Mitochondrial poly(A) polymerase||613669|REc|||Ataxia, spastic, 4, 613672 (3)| | ||
10.99|5|5|09|10p11.23-q21.1|DFNB33|P|Deafness, autosomal recessive 33||607239|Fd|prev. assignment to chr. 9 an error||Deafness, autosomal recessive 33 (2)| | ||
10.100|4|15|08|10p11.22|EIG5|P|Epilepsy, idiopathic generalized, susceptibility to, 5||611934|Fd|max lod at D10S1426||Epilepsy, idiopathic generalized, susceptibility to, 5 (2)| | ||
10.101|9|23|13|10p11.22|KIF5B, KNS1, UKHC|P|Kinesin 1||602809|REc|||| | |18(Ukhc)|
10.102|3|20|07|10p11.21|ANKRD30A|P|Ankyrin repeat domain-containing protein 30A||610856|REc|||| | ||
10.103|4|1|08|10p11.21|GJD4, CX40.1|P|Gap junction protein, delta-4||611922|REc|||| | ||
10.104|8|26|09|10p11.22-p11.21|PARD3, PAR3|P|Partitioning-defective protein 3, C. elegans, homolog of||606745|R, REc|||| | ||
10.105|1|9|13|10p11.21-q21.1|USH1K|P|Usher syndrome, type IK||614990|Fd|max lod at D10S539||Usher syndrome, type IK (2)| | ||
10.106|10|7|98|10p12.1|ABI1|P|ABL-interactor 1||603050|Ch|||| | ||
10.107|5|19|09|10p11.21|CCNY, CFP1, CCNX, C10orf9|P|Cyclin Y||612786|REc|||| | ||
10.108|8|28|01|10p11.21|FZD8|P|Frizzled, Drosophila, homolog of, 8||606146|A|||| | |18(Fzd8)|
10.109|3|13|92|10p11.22|ITGB1, FNRB|C|Integrin, beta-1 (fibronectin receptor, beta polypeptide; antigen|CD29 includes MDF2, MSK12)|135630|REb, REa, F, A, S|pseudogene FNRBL on 19p||| | ||
10.110|10|4|05|10p11.23|MAP3K8, COT, EST, TPL2|C|Mitogen-activated protein kinase kinase kinase 8|(cancer Osaka thyroid oncogene)|191195|Psh, A, H|||Lung cancer, somatic, 211980 (3)| | |18(Tpl2)|
10.111|8|17|99|10p11.23|SVIL|P|Supervillin||604126|A|||| | ||
10.112|2|25|10|10p11.22|ZEB1, TCF8, NIL2A, PPCD3, FECD6|C|Zinc finger E box-binding homeobox 1||189909|REa, A, Fd|||Corneal dystrophy, posterior polymorphous, 3, 609141 (3); Corneal|dystrophy, Fuchs endothelial, 6, 613270 (3) | ||
10.113|5|12|09|10p11.21|CUL2|P|Cullin 2||603135|A|||| | ||
10.114|8|20|92|10p11.1|ZNF25, KOX19|C|Zinc finger protein-25 (KOX 19)||194528|REa, A|||| | ||
10.115|7|17|02|10p12.1|MYO3A, DFNB30|C|Myosin IIIA||606808|REa, R, Fd|||Deafness, autosomal recessive 30, 607101 (3)| | ||
10.116|8|20|07|10p11.22|EPC1|P|Enhancer of polycomb, Drosophila, homolog of, 1||610999|R|||| | ||
10.117|12|19|11|10p11.23|KIAA1462, JCAD|P|KIAA1462 gene||614398|REc|||| | ||
10.118|2|21|03|10p|BULN|P|Bulimia nervosa, susceptibility to||607499|Fd|between D10S1430 and D10S1423||{Bulimia nervosa, susceptibility to} (2)| | ||
10.119|9|14|05|10p13|DCLRE1C, ARTEMIS, SCIDA|C|DNA cross-link repair protein 1C||605988|Fd, REc|||Severe combined immunodeficiency, Athabascan type, 602450 (3);|Omenn syndrome, 603554 (3) | ||
10.120|10|8|08|10p|BMIQ8|C|Body mass index quantitative trait locus 8||603188|Fd|||{Obesity, susceptibility to, BMIQ8} (2)| | ||
10.121|10|30|03|10q|AITD4|P|Autoimmune thyroid disease, susceptibility to, 4||608176|Fd|||{Autoimmune thyroid disease, susceptibility to, 4} (2)| | ||
10.122|10|8|08|10q|BMIQ10|P|Body mass index quantitative trait locus 10||607514|Fd|interacts with OB20||{Obesity, susceptibility to, BMIQ10} (2)| | ||
10.123|1|12|99|10q26.11|TIAL1, TIAR, TCBP|P|Tia1 cytotoxic granule-associated RNA-binding protein-like 1||603413|REc, R|||| | ||
10.124|5|26|13|10q11.22|ARHGAP22|P|Rho GTPase-activating protein 22||610585|REc|||| | ||
10.125|5|29|12|10q11.23|ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1|C|Excision repair cross complementing rodent repair deficiency,|complementation group 6|609413|A, M|||Cockayne syndrome, type B, 133540 (3); Cerebrooculofacioskeletal|syndrome 1, 214150 (3); De Sanctis-Cacchione syndrome, 278800 (3); {Macular degeneration, age-related, susceptibility to 5}, 613761 (3); UV-sensitive|syndrome 1, 600630 (3); {Lung cancer, susceptibility to}, 211980 (3) ||
10.126|8|18|98|10q22.1|TACR2, TAC2R, NKNAR|C|Tachykinin receptor 2 (substance K receptor; neurokinin 2 receptor)||162321|REa, A|||| | ||
10.127|10|24|11|10q22.2|ADK|C|Adenosine kinase||102750|S, D, EM|||Hypermethioninemia due to adenosine kinase deficiency, 614300 (3)| | |14(Adk)|
10.128|8|30|02|10q11.21|CXCL12, SDF1|P|Chemokine, C-X-C motif, ligand 12 (stromal cell-derived factor 1)||600835|A|||{AIDS, resistance to}, 609423 (3)| | ||
10.129|9|16|03|10q11.22|SYT15|P|Synaptotagmin 15||608081|REc|||| | |14(Syt15)|
10.130|5|27|05|10q11.21|ALOX5|P|Arachidonate 5-lipoxygenase||152390|Psh|||{Atherosclerosis, susceptibility to} (3); {Asthma, diminished|response to antileukotriene treatment in}, 600807 (3) | ||
10.131|3|6|98|10q11.22|ANXA8|P|Annexin A8||602396|A|||| | |14(Anx8)|
10.132|10|11|04|10q11.23|CHAT, CMS1A2|C|Choline acetyltransferase||118490|REa, A|||Myasthenic syndrome, congenital, associated with episodic apnea,|254210 (3) | ||
10.133|1|29|01|10q21.1|DKK1|P|Dickkopf, Xenopus, homolog of, 1||605189|A|||| | ||
10.134|3|23|06|10q11.22|MAPK8, PRKM8, JNK1, SAPK1|P|Mitogen-activated protein kinase 8||601158|R, REc|||| | ||
10.135|4|23|08|10q11.23|MSMB, HPC13|C|Microseminoprotein, beta||157145|REa, A|||{Prostate cancer, hereditary, 13}, 611928 (3)| | ||
10.136|2|12|02|10q11.23|NCOA4, ELE1, PTC3|C|Nuclear receptor coactivator 4||601984|REn|fused with RET to form PTC3||Thyroid carcinoma, papillary, 188550 (3)| | ||
10.137|8|10|13|10q11.22|PTPN20A|P|Protein tyrosine phosphatase, nonreceptor-type, 20A||610630|Psh, A|||| | ||
10.138|8|19|13|10q11.22|PTPN20B|P|Protein tyrosine phosphatase, nonreceptor-type, 20B||610631|Psh, A|||| | ||
10.139|9|29|13|10q11.2-q21.1|PRKG1, PRKG1B, PRKGR1B, AAT8|P|Protein kinase, cGMP-dependent, regulatory, type I||176894|REa, A|||Aortic aneurysm, familial thoracic 8, 615436 (3)| | ||
10.140|6|4|13|10q11.22|RBP3, RP66|C|Retinol-binding protein-3, interstitial||180290|REa, A, Fd|1 family identified with mutation||?Retinitis pigmentosa 66, 615233 (3)| | |14(Rbp3)|
10.141|1|25|11|10q11.21|RET, MEN2A, HSCR1|C|RET transforming sequence; oncogene RET||164761|A, REn, Fd, Ch, D|||Multiple endocrine neoplasia IIA, 171400 (3); Medullary thyroid|carcinoma, 155240 (3); Multiple endocrine neoplasia IIB, 162300 (3); Central hypoventilation syndrome, congenital, 209880 (3); Pheochromocytoma, 171300 (3);|Renal agenesis, 191830 (3); {Hirschsprung disease, susceptibility to, 1}, 142623 (3)||
10.142|12|7|07|10q11.23|SGMS1, SMS1, TMEM23, MOB|P|Sphingomyelin synthase 1||611573|REc|||| | ||
10.143|12|17|95|10q11.23|SLC18A3, VACHT|P|Solute carrier family 18 (vesicular acetylcholine), member 3||600336|REn|||| | ||
10.144|8|28|92|10q11.21|ZNF22, KOX15|C|Zinc finger protein-22 (KOX15)||194529|A, REa|||| | ||
10.145|3|12|07|10p11.1|ZNF33A, NF11A, KOX2|C|Zinc finger protein-33a||194521|REa, A|||| | ||
10.146|3|12|07|10q11.21|ZNF33B, ZNF11B, KOX2|C|Zinc finger protein-33b||194522|REa, A|||| | ||
10.147|8|26|09|10q11.21|ZNF239, MOK2|P|Zinc finger protein-239||601069|R, REc|previously 19q13.2-q13.3||| | |6(Mok2)|
10.148|12|21|12|10q21.1|MBL2, MBL, MBP1, MBL2D, MBPD|C|Mannose-binding lectin 2, soluble (opsonic defect)||154545|REa, A, Fd|near MEN2A||{Chronic infections, due to MBL deficiency}, 614372 (3)| | |14(Mbl1)|
10.149|1|30|09|10q11.2-q21|STHAG5|P|Tooth agenesis, selective, 5||610926|Fd|D10S604 and D10S568||Tooth agenesis, selective, 5 (2)| | ||
10.150|12|5|07|10q21.1|UBE2D1, UBCH5A, UBCH5|C|Ubiquitin-conjugating enzyme E2D 1||602961|Psh, R|||| | ||
10.151|2|18|98|10q11.22|PPYR1, NPY4R, PP1|P|Pancreatic polypeptide receptor-1||601790|REa, REc|||| | |14(Ppyr1)|
10.152|8|9|13|10q11.21|BMS1, BMS1L, KIAA0187|P|Bms1, ribosome assembly protein, S. cerevisiae, homolog of||611448|REc|||| | ||
10.153|6|7|10|10q11.21|MARCH8|P|Membrane-associated RING-CH finger protein 8||613335|REc|||| | ||
10.154|3|30|12|10q11.21|RASFEF1A|P|RASGEF domain family, member 1A||614531|REc|||| | ||
10.155|5|26|13|10q11.21|RASSF4, AD037|P|Ras association domain family, member 4||610559|REc|||| | ||
10.156|3|25|96|10q11.21|HNRPF|C|Heterogeneous nuclear ribonucleoprotein F||601037|A|||| | ||
10.157|1|29|01|10q11.23|TIMM23|P|Translocase of inner mitochondrial membrane 23, Yeast, homolog of||605034|A|||| | ||
10.158|11|22|10|10q11.22|FAM21C, VPEF, KIAA0592|P|Family with sequence similarity 21, member C||613631|R, REc|||| | ||
10.159|3|29|10|10q11.22|FRMPD2|P|FERM and PDZ domains-containing protein 2||613323|REc|||| | ||
10.160|11|11|13|10q11.22|GDF2, BMP9, HHT5|P|Growth differentiation factor 2 (bone morphogenetic protein 9)||605120|REc|||Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3)| | ||
10.161|5|26|13|10q11.22|GPRIN2, GRIN2|P|G protein-regulated inducer of neurite outgrowth 2||611240|REc|||| | ||
10.162|3|29|10|10q11.22-q11.23|WDFY4, KIAA1607|P|WD repeat- and FYVE domain-containing protein 4||613316|Psh, REc|||| | ||
10.163|5|26|13|10q11.23|ASAH2|P|N-acylsphingosine amidohydrolase 2||611202|REc|||| | ||
10.164|5|22|07|10q11.23|ASAH2C, ASAH2L|P|N-acylsphingosine amidohydrolase 2C||610987|REc|||| | ||
10.165|8|26|09|10q11.23|DRGX, DRG11|P|Dorsal root ganglia homeobox||606701|REc|||| | ||
10.166|2|20|01|10q11.23|PARG|P|Poly(ADP-ribose) glycohydrolase||603501|A|||| | |14(Parg)|
10.167|9|28|11|10q11.23-q22.3|HYPT9|P|Hypotrichosis 9||614237|Fd|between D10S538 and D10S2327||Hypotrichosis 9 (2)| | ||
10.168|10|13|09|10q21|ALL1|P|Leukemia, acute lymphocytic, susceptibility to, 1||613065|Fd|associated with rs10821936||{Leukemia, acute lymphocytic, susceptibility to, 1} (2)| | ||
10.169|11|7|08|10q21|ALPQTL4|P|Alkaline phosphatase, plasma level of, QTL 4||612369|Fd|linkage with rs12355784||{Alkaline phosphatase, plasma level of, QTL4} (2)| | ||
10.170|11|11|13|10q21.2|ANK3, MRT37|P|Ankyrin-3, node of Ranvier||600465|A|mutation identified in 1 family||?Mental retardation, autosomal recessive, 37, 615493 (3)| | |10(Ank3)|
10.171|3|22|06|10q21.2|CCDC6, D10S170, H4, TST1, PTC, TPC|C|Coiled-coil domain-containing 6||601985|REn|fused with RET to form PTC1||Thyroid papillary carcinoma, 188550 (1)| | ||
10.172|4|1|03|10q21.3|CTNNA3|P|Catenin, alpha-3||607667|A, Psh|||| | ||
10.173|7|9|06|10q22.1|DDX21|P|DEAD/H box 21||606357|R, REc|||| | |10(Ddx21)|
10.174|9|24|08|10q21|IBD15|P|Inflammatory bowel disease 15||612255|Fd|association with rs10761659||{Inflammatory bowel disease 15} (2)| | ||
10.175|3|20|06|10q21.1|IPMK|P|Inositol polyphosphate multikinase||609851|REc|||| | ||
10.176|10|30|08|10q21|MAFD8|P|Major affective disorder 8||612357|Fd|associated with rs20994336||{Major affective disorder-8, susceptibility to} (2)| | ||
10.177|2|28|03|10q22.1|NPFF1|P|Neuropeptide FF1||607448|R|||| | ||
10.178|6|26|00|10q21|RNANC, NCRNA|P|Retinal nonattachment, nonsyndromic congenital||221900|Fd|||Retinal nonattachment, nonsyndromic congenital (2)| | ||
10.179|6|15|99|10q22.1|SGPL1, SPL|L|Sphingosine-1-phosphate lyase 1||603729|H|||| | |10(Spl)|
10.180|9|18|08|10q21.1|TFAM, TCF6L2, TCF6L1, TCF6L3, MTTF1, TCF6|P|Transcription factor A, mitochondrial||600438|Psh, A|||| | |10(Tfam)|
10.181|3|18|08|10q22.1|CDH23, USH1D|C|Cadherin-23 (otocadherin)||605516|Fd, REc|between D10S529 and D10S573||Usher syndrome, type 1D, 601067 (3); Deafness, autosomal recessive|12, 601386 (3); Usher syndrome, type 1D/F digenic, 601067 (3) | |10(Cdh23, v)|
10.182|6|19|98|10q22.1|EIF4EBP2, 4EBP2|P|Eukaryotic translation initiation factor-4E binding protein-1||602224|A|||| | |10(Eif4ebp2)|
10.183|2|19|08|10q24.31|ERLIN1|P|Endoplasmic reticulum lipid raft-associated protein 1||611604|R, REc|||| | ||
10.184|3|18|08|10q21.1|PCDH15, DFNB23, USH1F|C|Protocadherin 15||605514|REc|||Usher syndrome, type 1F, 602083 (3); Deafness, autosomal recessive|23, 609533 (3); Usher syndrome, type 1D/F digenic, 601067 (3) | |10(av)|
10.185|9|29|96|10q22.2|PPP3CB, CALNB|C|Protein phosphatase-3 (formerly 2B), catalytic subunit, beta isoform|(calcineurin A beta)|114106|REa|||| | ||
10.186|7|7|09|10q22.1|UNC5B, UNC5H2|P|Unc5, C. elegans, homolog of, B||607870|R, REc|||| | ||
10.187|1|11|07|10q22.1|SPOCK2, KIAA0275|C|SPARC/osteonectin, CWCV, and KAZAL-like domains proteoglycan 2||607988|R, REc|||| | ||
10.188|5|14|95|10q23.31|HTR7|P|5-hydroxytryptamine (serotonin) receptor-7, adenylate cyclase-coupled||182137|REa, Fd|||| | ||
10.189|6|14|10|10q21.2|CDK1, CDC2|C|Cyclin-dependent kinase 1||116940|REa, A|||| | |10(Cdc2a)|
10.190|4|8|08|10q21.1|CISD1, MITONEET|P|CDGSH iron sulfur domain protein 1||611932|REc|||| | ||
10.191|6|26|01|10q21.3|JDP1|P|J domain-containing protein 1||606060|REc|||| | ||
10.192|5|4|09|10q21.1|MYP15|P|Myopia 15||612717|Fd|max lod at D10S1643||Myopia 15 (2)| | ||
10.193|5|24|13|10q21.3|MYPN, CMD1DD, CMH22, RCM4|P|Myopalladin||608517|REc|||Cardiomyopathy, dilated, 1KK, 615248 (3); Cardiomypathy, familial|hypertrophic, 22, 615248 (3); Cardiomyopaty, familial restrictive 4, 615248 (3) | ||
10.194|8|29|08|10q21.3|PBLD, MAWBP, MAWDBP|P|Phenazine biosynthesis-like protein domain-containing protein||612189|Psh, R|||| | ||
10.195|5|6|03|10q21.2|RHOBTB1, KIAA0740|P|Rho-related BTB domain-containing protein 1||607351|REc|||| | ||
10.196|8|19|13|10q21.3|RUFY2, KIAA1537|P|RUN and FYVE domains-containing protein 2||610328|REc, R|||| | ||
10.197|12|29|00|10q22.1|VPS26A, VPS26, HB58|P|Vacuolar protein sorting 26, yeast, homolog of, A||605506|R|||| | ||
10.198|10|13|94|10q22.2|ANXA7, SNX|P|Annexin A7 (synexin)||186360|REa, A|||| | |14(Amx7)|
10.199|4|25|03|10q21.3|EGR2, KROX20|P|KROX-20, Drosophila, homolog of (early growth response-2)||129010|D, REa, A, F|||Neuropathy, congenital hypomyelinating, 1, 605253 (3);|Charcot-Marie-Tooth disease, type 1D, 607678 (3); Dejerine-Sottas disease, 145900 (3)| |10(Krox20; Egr2)|
10.200|9|10|09|10q21.2|ARID5B, MRF2, DESRT|P|AT-rich interaction domain-containing protein 5B||608538|R, REc|||| | ||
10.201||20|12|10q21.1|BICC1, BICC, CYSRD|P|Bicaudal C, Drosophila, homolog of, 1||614295|REc|||{Renal dysplasia, cystic, susceptibility to}, 601331 (3)| | ||
10.202|9|28|11|10q21.2|SLC16A9, MCT9|P|Solute carrier family 16 (monocarboxylic acid transporter),|member 9|614242|REc|||| | ||
10.203|5|31|05|10q21.2|ZNF365, UAN|C|Zinc finger protein 365||607818|Fd, REc|||{Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)| | ||
10.204|12|20|12|10q21.3|ADO, C10orf22|P|2-aminoethanethiol dioxygenase||611392|REc|||| | ||
10.205|2|12|09|10q21.3|CCAR1, CARP1|P|Cell division cycle and apoptosis regulator 1||612569|REc|||| | ||
10.206|3|26|07|10q21.3|LRRTM3|P|Leucine-rich repeat transmembrane protein 3||610869|REc, H|||| | |10(Lrrtm3)|
10.207|1|9|13|10q21.3|MSE|P|Myelinating schwann cell element||614996|REc, REn|||| | ||
10.208|1|6|09|10q22.1|NEUROG3, NGN3, ATOH5|P|Neurogenin 3||604882|REc|||Diarrhea 4, malabsorptive, congenital, 610370 (3)| | ||
10.209|7|1|05|10q22.1|OIT3, LZP|P|Oncoprotein-induced transcript 3, mouse, homolog of||609330|REc|||| | |10(Lzp)|
10.210|3|24|06|10q22.1|PP|C|Inorganic pyrophosphatase||179030|S, D, R|||| | |10(Pyp)|
10.211|7|1|05|10q21.3|REEP3, C10orf74|P|Receptor expresion-enhancing protein 3||609348|R, REc|||| | ||
10.212|9|9|08|10q21.3|SIRT1, SIR2L1|C|Sirtuin, S. cerevisiae, homolog 1||604479|REc|||| | ||
10.213|2|7|06|10q21.3|ATOH7|P|Atonal, Drosophila, homolog of, 7||609875|A, H|||| | |10(Atoh7)|
10.214|4|10|13|10q21.3|DNA2, DNA2L, KIAA0083, PEOA6|P|DNA replication helicase 2, yeast, homolog of||601810|A|||Progressive external ophthalmoplegia with mitochondrial DNA|deletions, autosomal dominant, 6, 615156 (3) | ||
10.215|4|17|00|10q21.3-q22.1|MBS3|P|Moebius syndrome 3||604185|Fd|||Moebius syndrome-3 (2)| | ||
10.216|8|2|99|10q21.3|SLC25A16, D10S105E, GDA|P|Solute carrier family 25 (mitochondrial carrier), member 16|(Graves disease autoantigen)|139080|A|||| | ||
10.217|4|10|90|10q22.1|P4HA1, P4HA|C|Procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline|4-hydroxylase), alpha polypeptide 1|176710|REa, A, REn|||| | ||
10.218|4|14|10|10q21.3-q22.3|HWE1|P|Epilepsy, hot water, 1||613339|Fd|max lod at D10S412||Epilepsy, hot water, 1 (2)| | ||
10.219|3|6|98|10q22.2|CAMK2G, CAMKG|C|Calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma||602123|REa, A|in intron of PCDH15||| | |14(Camkg)|
10.220|10|12|90|10q22.1|COL13A1|C|Collagen XIII, alpha-1 polypeptide||120350|REa, A|~550kb proximal to P4HA||| | ||
10.221|8|25|11|10q24.2|GOLGA7B, C10orf132|P|Golgin A7 family, member B||614189|REc|||| | ||
10.222|1|5|07|10q23.1-q23.2|GRID1, KIAA1220|P|Glutamate receptor, inotropic, delta 1||610659|R, H, REc|||| | |14(Grid1)|
10.223|7|8|13|10q22.1|HK1, HKD, HMSNR|C|Hexokinase-1||142600|S, D, A, REa|10p11.2 conflicting assignment; ?2 loci on chr.10||Hemolytic anemia due to hexokinase deficiency, 235700 (3);|Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) | |10(Hk1)|
10.224|6|19|98|10q21.3|HNRPH3, 2H9|P|Heterogeneous nuclear ribonucleoprotein H3||602324|A|||| | ||
10.225|4|19|12|10q22.2|KAT6B, MYST4, MORF, GTPTS|P|Lysine acetyltransferase 6B||605880|A|||SBBYSS syndrome, 603736 (3); Genitopatellar syndrome, 606170 (3)| | ||
10.226|9|18|08|10q23.1|MAT1A, MATA1, SAMS1|P|Methionine adenosyltransferase I, alpha||610550|A|||Hypermethioninemia, persistent, autosomal dominant, due to|methionine adenosyltransferase I/III deficiency, 250850 (3); Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)| ||
10.227|6|13|07|10q22|MRT8|P|Mental retardation, autosomal recessive, 8||611094|Fd|between rs1599711 and rs942793||Mental retardation, autosomal recessive, 8 (2)| | ||
10.228|11|16|98|10q22.2|NDST2|C|N-deacetylase/N-sulfotransferase 2||603268|A|in intron of PCDH15||| | ||
10.229|1|8|01|10q23.1|NRG3|P|Neuregulin 3||605533|REa|||| | ||
10.230|4|15|09|10q22.1|PCBD, DCOH|C|Pterin-4a-carbinolamine dehydratase (dimerization cofactor of hepatic|nuclear factor 1-alpha)|126090|REa, H, A|||Hyperphenylalaninemia, BH4-deficient, D, 264070 (3)| | |10(Dcoh)|
10.231|10|17|05|10q22.1|PRF1, HPLH2, FLH2|C|Perforin||170280|A|mistakenly assigned to chr.17||Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3);|Lymphoma, non-Hodgkin, 605027 (3) | |10(Prf1)|
10.232|5|9|07|10q22|SQTL1|P|Smoking as a quantitative trait locus 1||611003|Fd|near D10S1432||{Smoking as a quantitative trait locus 1} (2)| | ||
10.233|5|28|09|10q21.3|TET1, CXXC6, LCX, KIAA1676|C|tet oncogene 1||607790|REc, A|||| | ||
10.234|2|4|00|10q22.2|VDAC2|P|Voltage-dependent anion channel 2||193245|A|||| | |14(Vdac2)|
10.235|12|5|01|10q23.32|BTAF1, TAFII170, TAF172, MOT1|P|BTAF1 RNA polymerase II, B-TFIID transcription factor-associated,|170kD (Mot1, S. cerevisiae, homolog of)|605191|A, R|||| | ||
10.236|4|23|08|10q21.1|CSTF2T, KIAA0689|P|Cleavage stimulation factor, 3-prime pre-RNA, subunit 2, 64kD, tau|variant|611968|Psh, R|||| | |19(Cstf2t)|
10.237|6|27|08|10q22-q23|MGR12|P|Migraine, with or without aura, susceptibility to, 12||611706|Fd|max lod at 100cM||{Migraine, with or without aura, susceptibility to, 12} (2)| | ||
10.238|3|1|00|10q22.3|PPIF, CYP3|P|Peptidylprolyl-cis-trans-isomerase, mitochondrial||604486|Fd|||| | ||
10.239|3|11|09|10q22.3|SFTPA2, SPA2, COLEC5|P|Surfactant, pulmonary-associated protein A2||178642|Psh|contiguous with SFTPA1||Pulmonary fibrosis, idiopathic, 178500 (3)| | ||
10.240|12|29|06|10q22.3|RPS24, DBA3|C|Ribosomal protein S24||602412|R, Psh|||Diamond-blackfan anemia 3, 610629 (3)| | ||
10.241|7|1|11|10q23.31|ACTA2, ACTSA, AAT6, MYMY5|C|Actin, alpha-2, smooth muscle, aorta||102620|REa, A|||Aortic aneurysm, familial thoracic 6, 611788 (3); Multisystemic|smooth muscle dysfunction syndrome, 613834 (3); Moyamoya disease 5, 614042 (3) | ||
10.242|8|29|07|10q23.31|MPHOSPH1, MPP1|C|M-phase phosphoprotein 1||605498|R, REc|||| | ||
10.243|1|14|13|10q23.2-q23.3|PAPSS2, ATPSK2, BCYM4|C|3'-phosphoadenosine 5'-phosphosulfate synthase 2||603005|REc, A|||Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847|(3) | |19(Atpsk2, bm)|
10.244|10|5|07|10q22-q24|ATFB1|P|Atrial fibrillation, familial, 1||608583|Fd|||Atrial fibrillation, familial, 1 (2)| | ||
10.245|7|26|10|10q22.1|ANAPC16, MSAG, C10orf104|P|Anaphase-promoting complex, subunit 16||613427|REc|||| | ||
10.246|10|5|11|10q22.1|ASCC1, p50|P|Activating signal cointegrator 1 complex, subunit 1||614215|REc|||Barrett esophagus/esophageal adenocarcinoma, 614266 (3)| | ||
10.247|3|3|09|10q22.1|C10orf27|P|chromosome 10 open reading frame 27||612640|REc|||| | ||
10.248|11|18|10|10q22.1|CHST3, C6ST, C6ST1, HSD|P|Carbohyrate sulfotransferase 3||603799|REc|||Spondyloepiphyseal dysplasia with congenital joint dislocations,|143095 (3) | ||
10.249|8|19|13|10q22.1|DDX50, GUB|P|DEAD/H box 50||610373|REc|||| | |10(Ddx50)|
10.250|5|29|12|10q22.1|KIAA1274, PALD|P|Paladin, mouse, homolog of||614656|REc, R|||| | ||
10.251|7|1|05|10q22.1|KIAA1279|P|KIAA1279 gene||609367|R, REc|||Goldberg-Shprintzen megacolon syndrome, 609460 (3)| | ||
10.252|9|2|11|10q22.1|MCU, CCDC109A|P|Mitochondrial calcium uniporter||614197|REc|||| | ||
10.253|1|5|07|10q22.2|MRPS16, COXPD2|C|Mitochondrial ribosomal protein S16||609204|R, REc|||Combined oxidative phosphorylation deficiency 2, 610498 (3)| | ||
10.254|1|30|01|10q22.2|MYOZ1|P|Myozenin 1 (calsarcin 2)||605603|R|||| | ||
10.255|8|26|09|10q22.1|NODAL, HTX5|P|Nodal, mouse, homolog of||601265|R, REc|||Heterotaxy, visceral, 5, 270100 (3)| | |10(nodal)|
10.256|12|18|07|10q22.1|PLA2G12B, GXIIB|P|Phospholipase A2, group XIIB||611653|REc|||| | ||
10.257|1|22|08|10q22.1|PSAP, SAP1|C|Prosaposin (sphingolipid activator protein-1)||176801|S, REa, A, D, Fd|||Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3);|Gaucher disease, atypical, 610539 (3); Combined SAP deficiency, 611721 (3); Krabbe disease, atypical, 611722 (3)| |10(Psap)|Holtschmidt (1991); Schnabel (1992)
10.258|5|22|03|10q22.1|SARA1, SAR1A|P|Sar1a, S. cerevisiae, homolog 1||607691|REc, R|||| | ||
10.259|4|18|12|10q22.1|SLC29A3, ENT3, PHID, HCLAP|P|Solute carrier family 29 (nucleoside transporter), member 3||612373|R, REc|||Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)| | ||
10.260|12|21|09|10q22.1|SRGN, PRG1, PRG|C|Serglycin||177040|REa, A|||| | ||
10.261|10|11|05|10q21.3-q22.1|STOX1, PEE4|P|Storkhead box 1||609397|REc, Fd|||Preeclampsia/eclampsia 4, 609404 (3)| | ||
10.262|1|31|01|10q22.1|SUPV3L1|P|Suv3-like 1||605122|A|||| | ||
10.263|12|21|09|10q22.1|TSPAN15, NET7|P|Tetraspanin 15||613140|REn|||| | ||
10.264|8|20|07|10q22.1|TYSND1|P|Trypsin domain-containing protein 1||611017|R, REc|||| | ||
10.265|2|2|04|10q22.3|RAI17, KIAA1224, ZIMP10|P|Retinoic acid-induced gene 17||607159|REc|||| | ||
10.266|3|3|10|10q22.2|VCL, CMD1W, CMH15|C|Vinculin||193065|REa, Fd, REb|||Cardiomyopathy, dilated, 1W, 611407 (3); Cardiomyopathy, familial|hypertrophic, 15, 613255 (3) | ||
10.267|4|27|12|10q22.1-q24.1|SPG27|P|Spastic paraplegia-27, autosomal recessive||609041|Fd|between  D10S606 and D10S1758||Spastic paraplegia 27, autosomal recessive (2)| | ||
10.268|5|24|13|10q22.2|AP3M1|P|Adaptor-related protein complex 3, mu-1 subunit||610366|R, REc|||| | ||
10.269|1|27|04|10q22.1|DNAJB12, DJ10, FLJ0027|P|DNAJ, E. coli, homolog of, subfamily B, member 12||608376|R|||| | ||
10.270|9|24|08|10q22.2|DNAJC9, JDD1, KIAA0974|P|DNAJ/HSP40 homolog, subfamily C, member 9||611206|R, REc|||| | ||
10.271|12|21|09|10q22.2|DUSP13, TMDP, MDSP|P|Dual-specificity phosphatase 13||613191|REc|||| | ||
10.272|8|21|12|10q22.2|MSS51, ZMYND17|P|MSS51 mitochondrial translational activator, S. cerevisiae, homolog of||614773|REc|||| | ||
10.273|12|7|07|10q22.2|SAMD8, SMSR|P|Sterile alpha motif domain-containing 8||611575|REc|||| | ||
10.274|4|26|11|10q22.2|ZNF503, NOLZ1|P|Zinc finger protein 503||613902|REc|||| | ||
10.275|1|27|04|10q22.3|SFTPA1, SFTP1|C|Surfactant, pulmonary-associated protein A1||178630|REa, A|contiguous with SFTPA2||{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)| | |14(Sftp1)|
10.276|8|6|13|10q23.2|LDB3, ZASP, CYPHER, KIAA01613, CMD1C, LVNC3, MFM4|C|LIM domain binding 3||605906|R, Psh, Fd|||Myopathy, myofibrillar, 4, 609452 (3); Cardiomyopathy,|dilated 1C, 601493 (3); Left ventricular noncompaction 3, with or without dilated cardiomyopathy, 601493 (3)| ||
10.277|1|2|08|10q23.2|BMPR1A, ACVRLK3, ALK3|C|Bone morphogenetic protein receptor, type IA||601299|R, A|||Polyposis, juvenile intestinal, 174900 (3); Polyposis syndrome,|hereditary mixed, 2, 610069 (3); Juvenile polyposis syndrome, infantile form, 174900 (3)| ||
10.278|10|8|13|10q22.2-q22.3|C10orf11, OCA7|P|Chromosome 10 open reading frame 11||614537|REc|||Albinism, oculocutaneous, type VII, 615179 (3)| | ||
10.279|7|6|05|10q22.3|KCNMA1, SLO|C|Potassium large conductance calcium-activated channel, subfamily M,|alpha member 1 (slowpoke, Drosophila, homolog of)|600150|Psh, REc, Fd|||Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)| | ||
10.280|7|13|09|10q22.3|PLAC9|P|Placenta-specific gene 9||612857|REc, H|||| | |15(Plac9)|
10.281|10|3|11|10q22.3|POLR3A, RPC1, RPC155, ADDH, HLD7|C|Polymerase III, RNA, subunit A||614258|REc|||Leukodystrophy, hypomyelinating, 7, with or without oligodontia|and/or hypogonadotropic hypogonadism, 607694 (3) | ||
10.282|9|22|03|10q22.3|SCZD11|P|Schizophrenia susceptibility locus, chromosome 10q-related||608078|Fd|between D10S1677 and D10S1753||{Schizophrenia}, 181500 (2)| | ||
10.283|12|11|03|10q22.3|SLEN1|P|Systemic lupus erythematosus with nephritis, susceptibility to, 1||607965|Fd|||{Systemic lupus erythematosus with nephritis, susceptibility to, 1}|(2) | ||
10.284|11|07|08|10q22.3|SS3|P|Sarcoidosis, susceptibility to, 3||612388|Fd|associated with rs2789679 and rs1049550||{Sarcoidosis, susceptibility to, 3} (2)| | ||
10.285|1|26|99|10q22.3|ANXA11, ANX11|P|Annexin A11 (annexin XI)||602572|A|||| | ||
10.286|9|24|08|10q23|DEL10q23, C10DELq23|P|Chromosome 10q23 deletion syndrome||612242|DS|||Chromosome 10q23 deletion syndrome (4)| | ||
10.287|3|9|00|10q23.31|CH25H|P|Cholesterol 25-hydroxylase||604551|A, R|||| | ||
10.288|5|31|05|10q22.3|DLG5, PDLG, KIAA0583|C|Discs large, Drosophila, homolog of, 5||604090|R|||| | ||
10.289|3|15|13|10q23.31|KLLN, CWS4|P|Killin||612105|REc|||Cowden syndrome 4, 615107 (3)| | ||
10.290|5|31|05|10q23.2|MINPP1, HIPER1|P|Multiple inositol polyphosphate phosphatase 1||605391|A, R, REc|||Thyroid carcinoma, follicular, 188470 (3)| | |19(Minpp1)|
10.291|7|9|06|10q23.31|PANK1|P|Pantothenate kinase 1||606160|REn|||| | ||
10.292|1|26|07|10q23.33|PLCE1, KIAA1516, NPHS3|C|Phospholipase C, epsilon-1||608414|R, REc|||Nephrotic syndrome, type 3, 610725 (3)| | ||
10.293|8|26|09|10q24.32|POLL|P|Polymerase, DNA, lambda||606343|R, REc|||| | ||
10.294|2|25|11|10q23.1|RGR, RP44|C|Retinal G protein coupled receptor||600342|A|||Retinitis pigmentosa 44, 613769 (3)| | ||
10.295|3|16|99|10q25.2|SMNR, SPF30|P|Survival motor neuron-related protein||603519|Psh, R|||| | ||
10.296|10|28|08|10q23.31|STAMBPL1, KIAA1373|C|STAM-binding protein-like 1||612352|R, REc|||| | |19(Stambpl1)|
10.297|5|22|03|10q24.2|CNNM1, ACDP1|P|Cyclin M1 (ancient conserved domain protein 1)||607802|R|||| | ||
10.298|3|31|08|10q23-q24|CPROTQ|P|C-reactive protein QTL||611920|Fd|max lod at D10S1239||[C-reactive protein QTL] (2)| | ||
10.299|6|15|99|10q23.33|CYP26A1|P|Cytochrome p450, subfamily XXVIA, polypeptide 1||602239|A|||| | |19(Cyp26a1)|
10.300|10|23|87|10q24.1|DNTT, TDT|C|Terminal deoxynucleotidyltransferase||187410|REa, A, Ch|||| | |19(Tdt)|
10.301|3|15|13|10q24.2|HPSE2, HPA2, UFS1|P|Heparanase 2||613469|R|||Urofacial syndrome 1, 236730 (3)| | ||
10.302|10|21|08|10q23-q24|IBD20|P|Inflammatory bowel disease 20||612288|Fd|associated with rs11190140||{Inflammatory bowel disease 20} (2)| | ||
10.303|8|20|01|10q23.32|PPP1R3C, PPP1R5|P|Phosphatase 1, regulatory subunit 3C||602999|R|||| | ||
10.304|3|6|02|10q24.1|TLL2, KIAA0932|P|Tolloid-like 2||606743|A|||| | |19(Tll2)|
10.305|11|4|93|10q11.21|ZNF32, KOX30|P|Zinc finger protein-32 (KOX30)||194539|A|||| | |8(Zfp4)|
10.306|2|9|92|10q23.33|IDE|C|Insulin-degrading enzyme||146680|REa, A|||| | |19(Ide)|
10.307|10|8|12|10q23.1|CDHR1, PCDH21, PRCAD, CORD15, RP65|C|Cadherin-related family, member 1||609502|REc|||Cone-rod dystrophy 15, 613660 (3); Retinitis pigmentosa 65, 613660|(3) | ||
10.308|4|8|13|10q23.1|DYDC1|P|DPY30 domain-containing protein 1||615154|REc|||| | ||
10.309|6|11|02|10q24.2|HPS1|C|HPS gene 1||604982|LD, Fd|||Hermansky-Pudlak syndrome 1, 203300 (3)| | |19(ep, ru)|
10.310|8|10|10|10q24.1|BLNK, SLP65, AGM4|P|B-cell linker protein (SH2 domain-containing leukocyte protein, 65kD)||604515|A|||Agammaglobulinemia 4, 613502 (3)| | ||
10.311|8|19|13|10q23.2|MIR346|P|Micro RNA 346||611190|REc|||| | ||
10.312|10|17|00|10q23.2|NMSR, HMSNR|P|Neuropathy, hereditary motor and sensory, Russe type||605285|Fd|||Neuropathy, motor and sensory, Russe type (2)| | ||
10.313|2|12|07|10q23.2|WAPAL, KIAA0261, FOE, WAPL|C|Wings apart-like protein, Drosophila, homolog of||610754|R, REc|||| | ||
10.314|10|15|98|10q23.2|SNCG, BCSG1|C|Synuclein, gamma (breast cancer-specific gene 1)||602998|R, A|||| | ||
10.315|12|3|98|10q24.31|NDUFB8|C|NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)||602140|R|previously assigned to 12q21||| | ||
10.316|4|23|04|10q24.32|ARL3, ARFL3|P|ADP-ribosylation factor-like 3||604695|REa, R|||| | ||
10.317|11|30|06|10q23.32|CPEB3, KIAA0940|P|Cytoplasmic polyadenylation element-binding protein 3||610606|R, REc|||| | ||
10.318|4|17|06|10q23.33|CYP2C8|P|Cytochrome P450, subfamily IIc, polypeptide 8||601129|REc|||Rhabdomyolysis, cerivastatin-induced (3)| | ||
10.319|1|15|13|10q23.33|CYP26C1, FFDD4|P|Cytochrome P450, subfamily XXVIC, polypeptide 1||608428|REc|||Focal facial dermal dysplasia 4, 614974 (3)| | ||
10.320|2|21|02|10q23.2|GLUD1|C|Glutamate dehydrogenase-1||138130|REa, A|pseudogene on Xq26-q28||Hyperinsulinism-hyperammonemia syndrome, 606762 (3)| | |14(Glud)|
10.321|5|4|00|10q23.31|IFIT1, IFI56, G10P1, IFNAI1|C|Interferon-induced protein with tetratricopeptide repeats 1||147690|REa, A|10q25-q26 = conflicting site||| | ||
10.322|5|4|00|10q23.31|IFIT4|P|Interferon-induced protein with tetratricopeptide repeats 4||604650|A|||| | ||
10.323|5|4|00|10q23.31|IFIT2, IFI54, G10P2|C|Interferon-induced protein with tetratricopeptide repeats 2||147040|A, REa|||| | ||
10.324|6|7|10|10q23.32-q23.33|MARCH5|P|Membrane-associated RING-CH finger protein 5||610637|R, REc|||| | ||
10.325|11|18|08|10q23.3|RCM2|P|Cardiomyopathy, familial restrictive, 2||609578|Fd|max lod at D10S1242||Cardiomyopathy, familial restrictive, 2 (2)| | ||
10.326|8|19|98|10q22.3|SFTPD, SFTP4|C|Surfactant, pulmonary-associated protein D||178635|Psh|||| | ||
10.327|4|27|09|10q23.31|SLC16A12, MCT12, CJMG|C|Solute carrier family 16 (monocarboylic acid transporter), member 12||611910|REc, Fd|||Cataract, juvenile, with microcornea and glucosuria, 612018 (3)| | ||
10.328|10|10|01|10q25.1|SORCS1|P|SORCS receptor 1||606283|REc|||| | ||
10.329|10|10|01|10q25.1|SORCS3, KIAA1059|C|SORCS receptor 3||606285|R, REc|||| | ||
10.330|2|8|08|10q23.33|C10orf4, FRA10AC1, FRA10A|P|Chromosome 10 open reading frame 4||608866|REc|||| | ||
10.331|3|23|06|10q23.33|CEP55|P|Centrosomal protein, 55kD||610000|REc|||| | ||
10.332|12|28|08|10q23.33|EXOC6, SEC15L1, SEC15L, SEC15|P|Exocyst complex component 6||609672|R, REc|||| | ||
10.333|3|14|13|10q23.33|FFAR4, O3FAR1, GPR120, PGR4, BMIQ10|P|Free fatty acid receptor 4||609044|REc|||{Obesity, susceptibility to}, 607514 (3)| | ||
10.334|5|29|12|10q23.33|KIF11, KNSL1, MCLMR|P|Kinesin family member 11||148760|A, REc|||Microcephaly with or without chorioretinopathy, lymphedema, or|mental retardation, 152950 (3) | |18(Kns)|
10.335|9|9|09|10q23.31|RNLS, C10orf59|P|Renalase||609360|REc|||| | ||
10.336|7|18|06|10q24.1|SORBS1, SH3D5, SH3P12, KIAA1296|C|Sorbin and SH3 domain containing 1||605264|R, REc, REn|||| | ||
10.337|4|27|12|10q23.3-q24.1|SPG9|P|Spastic paraplegia-9 (spastic paraparesis with amyotrophy, cataracts|and gastroesophageal reflux)|601162|Fd|||Spastic paraplegia 9, autosomal dominant (2)| | ||
10.338|8|18|99|10q23.33|HELLS, LSH|P|Helicase, lymphoid-specific||603946|A, H|||| | |19(Hells)|
10.339|1|30|12|10q23.31|ATAD1, THORASE|P|ATPase family, AAA domain-containing, member 1||614452|REc|||| | ||
10.340|9|9|09|10q23.31|IDDM24|P|Diabetes mellitus, insulin-dependent, 24||613006|Fd|associated with rs10509540||{Diabetes mellitus, insulin-dependent, 24} (2)| | ||
10.341|12|15|10|10q23.31|LIPA, CESD|C|Lipase A, lysosomal acid, cholesterol esterase||613497|S, H|?close to GOT||Wolman disease, 278000 (3); Cholesteryl ester storage disease, 278000|(3) | |19(Lip1)|
10.342|4|26|11|10q23.31|LIPM, LIPL3|P|Lipase family, member M||613923|REc, H|||| | |19(Lipm)|
10.343|1|18|13|10q23.31|LIPN, LIPL4, ARCI8, LI4|P|Lipase family, member N||613924|REc, H|||Ichthyosis, congenital, autosomal recessive 8, 613943 (3)| | |19(Lipn)|
10.344|4|26|11|10q23.31|LIPK, LIPL2|P|Lipase family, member K||613922|REc, H|||| | |19(Lipk)|
10.345|4|26|11|10q23.31|LIPJ, LIPL1|P|Lipase family, member J||613921|REc, H|||| | |19(Lipj)|
10.346|12|21|09|10q23.31|MIR107, MIRN107|P|Micro RNA 107||613189|REc|||| | ||
10.347|6|18|10|10q23.31|PTEN, MMAC1, GLM2, CWS1|C|Phosphatase and tensin homolog (mutated in multiple advanced cancers|1)|601728|REc, REa, A, Ch|||Cowden syndrome 1, 158350 (3); Lhermitte-Duclos syndrome, 158350 (3); Bannayan-Riley-Ruvalcaba syndrome, 153480 (3); {Meningioma}, 607174 (3);|{Glioma susceptibility 2}, 613028 (3); Macrocephaly/autism syndrome, 605309 (3); PTEN hamartoma tumor syndrome (3); VATER association with macrocephaly and ventriculomegaly, 276950 (3);|{Prostate cancer, somatic}, 176807 (3); Thyroid carcinoma, follicular, somatic, 188470 (3); Malignant melanoma, somatic, 155600 (3); Endometrial carcinoma, somatic, 608089 (3); Squamous cell carcinoma, head and neck, somatic, 275355 (3)|19(Pten)|
10.348|8|26|09|10q23.31|RPP30|P|Ribonuclease P, 30kD subunit||606115|R, REc|||| | ||
10.349|1|30|07|10q24.2|ANKRD2, ARPP|P|Ankyrin repeat domain-containing protein 2||610734|R|||| | ||
10.350|11|1|99|10q24.2|ABCC2, CMOAT|P|ATP-binding cassette, subfamily C, member 2|(canalicular multispecific organic anion transporter)|601107|A|||Dubin-Johnson syndrome, 237500 (3)| | |19(Cmoat)|
10.351|1|8|01|10q24|AD6|C|Alzheimer disease 6||605526|Fd|||Alzheimer disease 6, 104300 (2)| | ||
10.352|2|23|08|10q24.32|AS3MT, CYT19|P|Arsenic (+3 oxidation state) methyltransferase||611806|REc|||| | ||
10.353|12|27|10|10q24.31|C10orf2, TWINKLE, PEO1, PEOA3, IOSCA, MTDPS7|C|T7 gene 4-like protein with intramitochondrial nucleoid localization||606075|Fd, REc|PEO digenic with POLG||Progressive external ophthalmoplegia, autosomal dominant, 3, 609286|(3); Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) | ||
10.354|11|4|97|10q24|CDB2, CDTB|P|Corneal dystrophy, Thiel-Behnke type||602082|Fd|||Corneal dystrophy, Thiel-Behnke type (2)| | ||
10.355|12|17|02|10q24.31|CHUK, IKBKA, NFKBIKA, IKKA, IKK1|C|Conserved helix-loop-helix ubiquitous kinase||600664|A, Psh|||Cocoon syndrome, 613630 (3)| | ||
10.356|4|25|13|10q24.2|COX15, CEMCOX2|C|Cytochrome c oxidase, subunit 15||603646|REc, Fd|||Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3);|Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)| ||
10.357|7|3|06|10q24.2|CUTC|P|CutC copper transporter, E. coli, homolog of||610101|REc|||| | ||
10.358|8|3|99|10q23.33|CYP2C9|C|Cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase),|polypeptide 9|601130|REn, H|||Tolbutamide poor metabolizer (3); Warfarin sensitivity, 122700 (3)| | |7(War)|
10.359|9|28|00|10q24.1|ENTPD1, CD39|P|Ectonucleoside triphosphate diphosphohydrolase 1 (CD39 antigen)||601752|REc|||| | ||
10.360|9|22|08|10q24.31|FAM178A, C10orf6|P|Family with sequence similarity 178, member A||610348|REc|||| | ||
10.361|5|2|07|10q24.32|FBXW4, DAC, FBW4, FBWD4|C|F-box and WD repeat domain containing 4||608071|H, REc|||| | |19(Dac)|
10.362|9|28|12|10q24.32|FGF8, HH6|C|Fibroblast growth factor-8||600483|H, REa, A, Fd|||Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3)| | |19(Fgf8)|
10.363|6|15|99|10q24.32|GBF1|P|Golgi-specific brefeldin-A resistance factor 1||603698|REa, A|||| | ||
10.364|3|3|03|10q23.33|HHEX, PRHX, PRH|C|Hematopoietically expressed homeo box||604420|REc, A|||| | ||
10.365|12|11|02|10q24.31|HIF1AN, FIH1|P|Hypoxia-inducible factor 1-alpha inhibitor||606615|REc|||| | ||
10.366|1|10|12|10q23.33|LGI1, EPT, ETL1, ADLTE, ADPEAF|C|Leucine-rich gene, glioma-inactivated, 1||604619|Ch, Fd|||Epilepsy, familial temporal lobe, 1, 600512 (3)| | ||
10.367|10|26|99|10q24.31|LBX1, LBX1H|P|Lady bird late, Drosophila, homolog of, 1||604255|A|||| | |19(Lbx1)|
10.368|2|28|03|10q24.2|LOXL4|P|Lysyl oxidate-like 4||607318|REc|||| | ||
10.369|3|5|08|10q24.31|MRPL43|P|Mitochondrial ribosomal protein L43||611848|R, REc|||| | ||
10.370|5|31|12|10q23.33|MYOF, FER1L3|C|Myoerlin||604603|REc, REn|||| | ||
10.371|12|27|13|10q24.32|NFKB2, LYT10, CVID10|C|Nuclear factor of kappa light chain gene enhancer in B-cells 2|(p49/p100); oncogene Lyt-10|164012|REa, A, Ch|||Immunodeficiency, common variable, 10, 615577 (3)| | ||
10.372|2|16|07|10q23.33|NOC3L, FAD24|P|Nucleolar complex-associated 3, S. cerevisiae, homolog of||610769|REc|||| | ||
10.373|3|20|08|10q25.2|PDCD4|P|Programmed cell death 4||608610|A|||| | ||
10.374|11|3|09|10q23.33|PDE6C, PDEA2, COD4|P|Phosphodiesterase-6C, cGMP-specific, cone, alpha prime||600827|A|||Cone dystrophy 4, 613093 (3)| | ||
10.375|3|18|08|10q24.2|PI4K2A|P|Phosphatidylinositol 4-kinase type 2 alpha||609763|R, REc|||| | ||
10.376|9|12|11|10q22.2|PLAU, URK, QPD, BDPLT5|C|Plasminogen activator, urokinase||191840|REa, A, Psh|proximal to HOX11||{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);|Quebec platelet disorder, 601709 (3) | |14(Plau)|
10.377|2|18|98|10q24.32|PSD|P|Pleckstrin and Sec7 domain protein||602327|REn|||| | ||
10.378|4|8|13|10q23.33|RBP4, RDCCAS|C|Retinol-binding protein-4, interstitial||180250|REa, A|just centromeric of CYP2C cluster||Retinol dystrophy, iris coloboma, and comedogenic acne syndrome,|615147 (3) | |19(Rbp4)|
10.379|8|10|10|10q24|SHFM3, SHSF3, DUP10q24, C10DUPq24|P|Split-hand/foot malformation 3 (Chromosome 10q24 duplication|syndrome)|246560|Fd|contiguous gene duplication syndrome||Split-hand/foot malformation 3, gene duplication syndrome (4)| | ||
10.380|1|12|06|10q24.2|SLC25A28, MRS4L, NPD016|P|Solute carrier family 25 (mitochondrial carrier), member 28||609767|Psh, REn|||| | ||
10.381|5|4|09|10q24.31|TD1|P|TLX1 divergent gene||612734|REc|||| | ||
10.382|7|17|02|10q24.31|TLX1, HOX11, TCL3|C|T-cell leukemia, homeobox 1||186770|Ch, RE, H|t(7;10) or t(10;4) in T-ALL||| | ||
10.383|12|10|13|10q24.33|USMG5, DAPIT|P|Upregulated during skeletal muscle growth 5, mouse, homolog of||615204|REc|||| | |19(Usmg5)|
10.384|8|29|96|10q24.31|WNT8B|P|Wingless-type MMTV integration site family, member 8B||601396|Psh, A|||| | ||
10.385|8|18|99|10q24.32|BTRC, BTRCP|P|Beta-transducin repeat-containing protein||603482|R, A|||| | ||
10.386|8|26|09|10q25.1|GSTO1|P|Glutathione S-transferase, omega-1||605482|REc, REn|||| | ||
10.387|10|6|08|10q25.1|GSTO2|P|Glutathione S-transferase, omega-2||612314|REc|||| | ||
10.388|2|4|99|10q24.32|LDB1, CLIM2, NLI|P|LIM domain-binding factor-1||603451|R, H|||| | |19(Ldb1)|
10.389|3|9|00|10q24.31|PKD2L1, PKDL, PKD2L|C|Polycystin L||604532|A, R, REa|||| | |19(Pkdl)|
10.390|9|27|12|10q24.32|SUFU, SUFUXL, SUFUH|C|Suppressor of fused||607035|A, R|||Medulloblastoma, desmoplastic, 155255 (3); {Meningioma, familial,|susceptibility to}, 607174 (3) | ||
10.391|12|4|01|10q24.33|TAF5, TAF2D, TAFII100|P|TAF5 RNA polymerase II, TATA box binding protein-associated factor,|100kD|601787|REa, A|||| | ||
10.392|3|7|92|10q25.2|ADRA2A, ADRA2R|C|Adrenergic, alpha-2A-, receptor||104210|REa, A, Fd, RE|||| | |19(Adra2)|
10.393|2|23|09|10q25.3|ADRB1, ADRB1R, RHR|C|Adrenergic, beta-1-, receptor||109630|REa, Fd, A|close linkage to ADRA2R||[Resting heart rate], 607276 (3); {Congestive heart failure and|beta-blocker response, modifier of} (3) | |19(Adrb1)|
10.394|6|6|00|10q26.13|BUB3|P|Budding uninhibited by benzimidazoles 3, S. cerevisiae, homolog of||603719|R|||| | ||
10.395|1|13|99|10q25.2|GPAM|L|Glycerol-3-phosphate acyltransferase||602395|H|||| | |19(Gpam)|
10.396|1|10|02|10q24.32|NPM3|P|Nucleophosmin/nucleoplasmin family, member 3||606456|REc|||| | |19(Npm3)|
10.397|11|20|98|10q25.3|NRAP|P|Nebulin-related anchoring protein||602873|R, H|||| | |19(Nrap)|
10.398|5|29|12|10q26.11|GRK5, GPRK5|P|G protein-coupled receptor kinase 5||600870|REa|||| | ||
10.399|12|7|07|10q24.1|ARHGAP19|P|RHO GTPase-activating protein 19||611587|REc|||| | ||
10.400|6|1|12|10q24.1|EXOSC1, CSL4|P|Exosome component 1||606493|REc|||| | ||
10.401|8|27|01|10q24.1|FRAT2|P|Frequently rearranged in advanced T-cell lymphomas 2||605006|REc|||| | ||
10.402|2|18|08|10q24.1|LCOR, MLR2, KIAA1795|C|Ligand-dependent nuclear receptor corepressor||607698|R, REc|||| | ||
10.403|8|31|12|10q24.1|MMS19, MMS19L|P|MMS19 nucleotide excision repair, S. Cerevisiae, homolog of||614777|A, REc, R|||| | ||
10.404|10|22|99|10q24.2|SFRP5, SARP3|P|Secreted frizzled-related protein 5||604158|A, R, Psh|||| | ||
10.405|12|10|13|10q24.1|SLIT1, SLIL1, MEGF4|P|Slit, Drosophila, homolog of, 1||603742|Psh, REc|||| | ||
10.406|9|10|12|10q24.1|TCTN3, TECT3, C10orf61, OFD4, JBTS18|P|Tectonic family, member 3||613847|REc|||Orofaciodigital syndrome IV, 258860 (3); Joubert syndrome 18,|614815 (3) | ||
10.407|11|22|04|10q23.31|TNFRSF6, APT1, FAS, CD95, ALPS1A|C|Tumor necrosis factor receptor superfamily, member 6||134637|A|||{Autoimmune lymphoproliferative syndrome}, 601859 (3); Squamous|cell carcinoma, burn scar-related, somatic (3); Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)| |19(Fas1)|
10.408|1|16|09|10q23.33|CYP2C, CYP2C19|C|Cytochrome P450, subfamily IIC (mephenytoin 4'-hydroxylase)||124020|REa, A|4 genes in order: cen-C18-C19-C9-C8-tel||Mephenytoin poor metabolizer, 609535 (3); Opremazole poor|metabolizer, 609535 (3); Proguanil poor metabolizer, 609535 (3); Clopidogrel, impaired responsiveness to, 609535 (3)| |19(P4502c)|
10.409|8|31|99|10q24.32|MGEA5|P|Meningioma-expressed antigen 5||604039|Psh, A|||| | ||
10.410|7|25|12|10q24.1-q25.1|CMTDIA|P|Charcot-Marie-Tooth disease, dominant intermediate A||606483|Fd|||Charcot-Marie-Tooth disease, dominant intermediate A (2)| | ||
10.411|1|18|12|10q24.2|GOT1, ASTQTL1|C|Glutamic-oxaloacetic transaminase-1, soluble (EC 2.6.1.1)||138180|S, D, H, A|10q26.1 = conflicting localization||Aspartate aminotransferase, serum level of, QTL1, 614419 (3)| | |19(Got1)|
10.412|3|10|03|10q24.2|CPN1, SCPN, CPN|C|Carboxypeptidase N, polypeptide 1, 50-kD||603103|Psh, R|||Carboxypeptidase N deficiency, 212070 (3)| | ||
10.413|5|26|13|10q24.2|DNMBP, TUBA, KIAA1010|P|Dynamin-binding protein||611282|R, REc|||| | |19(Dnmbp)|
10.414|12|17|12|10q24.2|HOGA1, DHDPSL, HP3|P|4-hydroxy-2-oxoglutarate aldolase 1||613597|REc|||Hyperoxaluria, primary, type III, 613616 (3)| | ||
10.415|6|16|08|10q24.2|NKX2C, NK2.3, CSX3|P|NK2, Drosophila, homolog of, C||606727|REc|||| | ||
10.416|4|27|12|10q24.2|ZFYVE27, SPG33|P|Zinc finger FYVE domain-containing protein 27||610243|REc|||Spastic paraplegia 33, autosomal dominant, 610244 (3)| | ||
10.417|2|3|99|10q25.1|ADD3, ADDL|C|Adducin-3, gamma||601568|A, Ch|fusion with NUP98 in T-ALL||| | ||
10.418|10|7|08|10q24.33|PDCD11, ALG4, NFBP, KIAA0185|P|Programmed cell death 11||612333|A|||| | ||
10.419|1|31|12|10q24.1|ALDH18A1, PYCS, GSAS, ARCL3A|C|Aldehyde dehydrogenase 18 family, member A1|(1-pyrroline-5-carboxylate synthetase)|138250|S, A|GOT1 and GSAS in same pathway||Cutis laxa, autosomal recessive, type IIIA, 219150 (3)| | ||
10.420|8|1|08|10q24.3-q25.1|COL17A1, BPAG2|C|Collagen XVII, alpha-1 polypeptide||113811|A, H|||Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)| | |19(Bpag2)|
10.421|8|9|05|10q24.32|CYP17A1, CYP17, P450C17|C|Cytochrome P450, family 17, subfamily A, polypeptide 1|(steroid 17-alpha-hydroxylase)|609300|REa, H, A|at least 2 genes; distal to GOT1||17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3); 17,20-lyase|deficiency, isolated, 202110 (3) | |19(Cyp17)|
10.422|5|24|13|10q24.31|LZTS2, KIAA1813, LAPSER1|P|Leucine zipper, putative tumor suppressor 2||610454|REc|||| | ||
10.423|8|26|09|10q24.32-q24.33|NT5C2, NT5B, PNT5|P|5' nucleotidase, cytosolic II||600417|R, REc|||| | ||
10.424|3|8|12|10q24.31|PDZD7|P|PDZ domain-containing 7||612971|REc|||{Retinal disease in Usher syndrome type IIA, modifier of}, 276901|(3); Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3) | ||
10.425|3|30|12|10q24.31|SEC31B, SEC31L2|P|Sec31, yeast, homolog of, B||610258|REc|||| | ||
10.426|7|10|02|10q24.32|TRIM8, RNF27, GERP|P|Tripartite motif-containing 8||606125|REc|||| | ||
10.427|1|1|13|10q24.31|PAX2, PAPRS|C|Paired box homeotic gene-2||167409|REa, A|||Papillorenal syndrome, 120330 (3); Renal hypoplasia, isolated, 191830|(3) | |19(Pax2)|
10.428|4|27|12|10q24.3-q25.1|SPG45|P|Spastic paraplegia 45, autosomal recessive||613162|Fd|max lod at D10S1710||Spastic paraplegia 45, autosomal recessive (2)| | ||
10.429|8|28|97|10q26.3|CYP2E, CYP2E1, P450C2E|C|Cytochrome P450, subfamily IIE, ethanol-inducible||124040|REa|||| | |7(Cyp2e)|
10.430|12|28|08|10q24.31|BLOC1S2, BLOS2|P|Biogenesis of lysosome-related organelles complex 1, subunit 2||609768|R|||| | ||
10.431|8|26|09|10q24.31|SCD|P|Stearoyl-CoA desaturase||604031|REa, REc|pseudogene on chr.17||| | |19(ab)|
10.432|12|27|13|10q24.31|SFXN3|P|Sideroflexin 3||615571|REc|||| | ||
10.433|8|31|12|10q24.32|ACTR1A, ARP1|P|Actin-related protein 1A||605143|REc|||| | ||
10.434|9|10|07|10q24.32|C10orf26, OPAL1|P|Chromosome 10 open reading frame 26||611129|R, REc|||| | ||
10.435|8|6|11|10q24.32|CUEDC2|P|Cue domain-containing protein 2||614142|REc|||| | ||
10.436|2|23|08|10q24.32|ELOVL3, CIG30|P|Elongation of very long chain fatty acids-like 3||611815|REc|||| | ||
10.437|5|24|13|10q24.32|FBXL15, JET|P|F-box and leucine-rich repeat protein 15||610287|REc|||| | ||
10.438|1|29|03|10q24.32|HPS6, RU|P|HPS gene 6||607522|REc|||Hermansky-Pudlak syndrome 6, 614075 (3)| | |19(ru)|
10.439|5|26|13|10q24.32|MIR146B|P|Micro RNA 146B||610567|REc|||| | ||
10.440|10|2|12|10q24.32|NOLC1, p130, NOPP140|P|Nucleolar and coiled-body phosphoprotein 1||602394|REc|||| | ||
10.441|12|27|13|10q24.32|SFXN2|P|Sideroflexin 2||615570|REc|||| | ||
10.442|11|14|12|10q24.32-q25.1|ECTD5|P|Ectodermal dysplasia 5, hair/nail type||614927|Fd|between D10S1239 and D10S1264||Ectodermal dysplasia 5, hair/nail type (2)| | ||
10.443|9|8|08|10q24.33|CALHM1, FAM26C|P|Calcium homeostasis modulator 1||612234|REc|?Alzheimer disease, 605526||| | ||
10.444|9|8|08|10q24.33|CALHM2, FAM26B|P|Calcium homeostasis modulator 2||612235|REc|||| | ||
10.445|4|11|11|10q24.32|CNNM2, ACDP2|C|Cyclin M2||607803|R, REc|||Hypomagnesemia 6, renal, 613882 (3)| | |19(Cnnm2)|
10.446|1|27|11|10q22.1|DDIT4, REDD1, RTP801|P|DNA damage-inducible transcript 4||607729|REc|||| | ||
10.447|12|2|09|10q24.33|OBFC1, AAF44, STN1|P|Oligonucleotide/oligosaccharide-binding fold-containing protein 1||613128|REc|||| | |19(Obfc1)|
10.448|12|28|08|10q24.33|PCGF6, RNF134, MBLR|P|Polycomb group ring finger 6||607816|R, REc|||| | ||
10.449|2|20|07|10q25.2|CSPG6, SMC3, HCAP, BAM, CDLS3|P|Chondroitin sulfate proteoglycan 6||606062|R, H|||Cornelia de Lange syndrome 3, 610759 (3)| | |19(Bam)|
10.450|11|4|98|10q25.2|DUSP5, HVH3|P|Dual-specificity phosphatase-5||603069|A|||| | ||
10.451|12|9|98|10q25|IDDM17|P|Insulin-dependent diabetes mellitus-17||603266|Fd|||{Diabetes mellitus, insulin-dependent, 17} (2)| | ||
10.452|2|18|98|10q25.3|LIMAB1|P|LIM actin-binding protein-1||602330|A, R|||| | |19(Limab1)|
10.453|11|29|99|10q25.2|MXI1|C|MAX-interacting protein 1||600020|A, D|||Neurofibrosarcoma (3);|{Prostate cancer, susceptibility to}, 176807 (3) | |19(Mxi1)|
10.454|5|24|13|10q24.32|PITX3, CTPP4, CTRCT11|C|Paired-like homeodomain transcription factor-3||602669|R|||Anterior segment mesenchymal dysgenesis, 107250 (3); Cataract 11,|multiple types, 610623 (3); Cataract 11, syndromic, 610623 (3) | |19(Pitx3)|
10.455|10|12|09|10q25.2|SHOC2, SIAA0862, SOC2, SUR8|P|Suppressor of clear, C. elegans, homolog of||602775|A|||Noonan-like syndrome with loose anagen hair, 607721 (3)| | ||
10.456|9|29|96|10q25.3|SLC18A2, VAT2, SVMT|C|Solute carrier family 18 (vesicular monoamine), member 2||193001|REa, A|||| | |19(Slc18a2)|
10.457|5|19|06|10q26.13|ACADSB, SBCAD|P|Acyl-Coenzyme A dehydrogenase, short/branched chain||600301|REa, A|||2-methylbutyrylglycinuria, 610006 (3)| | ||
10.458|12|2|05|10q25-q26|EIG4|P|Epilepsy, idiopathic generalized, susceptibility to 4||609750|Fd|between D16S397 and D16S3095||Epilepsy, idiopathic generalized, susceptibility to 4 (2)| | ||
10.459|4|17|06|10q25.3|HABP2, PHBP, HGFAL, FSAP|P|Hyaluronan-binding protein 2||603924|A|||{Carotid stenosis, susceptibility to} (3); {Venous thromboembolism,|susceptibility to}, 188050 (3) | ||
10.460|12|14|00|10q26.11|PRDX3, AOP1|P|Peroxiredoxin 3 (antioxidant protein 1)||604769|A|||| | |19(Aop1)|
10.461|10|15|91|10q26.2|MKI67|P|Proliferation-related Ki-67 antigen||176741|S, REa, A|||| | |7(Mki67)|
10.462|12|28|08|10q25.3|DCLRE1A, SNM1, SNM1A, KIAA0086|P|DNA cross-link repair protein 1A||609682|Psh, REc|||| | ||
10.463|5|21|99|10q24.33|NEURL|P|Neuralized, Drosophila, homolog-like||603804|R, A|||| | ||
10.464|9|18|08|10q25.2|ACSL5, FACL5, ACS5|P|Acyl-CoA synthetase long-chain family member 5||605677|REc|||| | ||
10.465|7|1|97|10q25.3|CASP7, MCH3|P|Caspase 7, apoptosis-related cysteine protease||601761|R|||| | ||
10.466|1|27|11|10q25.2|NCRNA00081, BBIP10|P|Noncoding RNA 81||613605|REc|||| | ||
10.467|12|21|09|10q25.2|RBM20|P|RNA-binding motif protein 20||613171|REc|||Cardiomyopathy, dilated, 1DD, 613172 (3)| | ||
10.468|8|2|13|10q25.2|VTI1A, VTI1RP2, MMDS3|P|VTI1, S. cerevisiae, homolog of, A||614316|REc|1 family identified with mutation||?Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)| | ||
10.469|1|27|04|10q26.3|DPYSL4, CRMP3, ULIP4|P|Dihydropyrimidinase-like 4||608407|A, H|||| | |7(Ulip4)|
10.470|8|6|13|10q26.11|BAG3, MFM6|P|BCL2-associated athanogene 3||603883|REc|||Myopathy, myofibrillar, 6, 612954 (3); Cardiomyopathy,|dilated, 1HH, 613881 (3) | ||
10.471|3|20|97|10q26.13|HMX2|P|Homeo box (H6 family) 2||600647|REa|||| | ||
10.472|5|14|02|10q26.1-q26.2|UROS|P|Uroporphyrinogen III synthase||606938|REa, Psh|||Porphyria, congenital erythropoietic, 263700 (3)| | |7(Uros)|
10.473|12|18|08|10q25.3|AFAP1L2, XB130, KIAA1914|P|Actin filament-associated protein 1-like protein 2||612420|A, REc|||| | ||
10.474|8|19|13|10q25.3|KIAA1598, SHOOTIN1|P|Kiaa1598 gene||611171|REc, R|||| | ||
10.475|11|22|10|10q25.3|KCNK18, TRESK, TRIK, MGR13|P|Potassium channel, subfamily K, member 18||613655|REc, H|||{Migraine, with or without aura, susceptibility to, 13}, 613656 (3)| | |19(Kcnk18)|
10.476|6|5|89|10q24.1|PGAM1|P|Phosphoglycerate mutase A, nonmuscle form||172250|D, H|||| | |19(Pgam1)|
10.477|3|18|12|10q25.3|PNLIPRP1, PLRP1|P|Pancreatic lipase-related protein 1||604422|REc|||| | ||
10.478|8|23|10|10q25.3|PNLIPRP2, PLRP2|P|Pancreatic lipase-related protein 2||604423|REc|||| | ||
10.479|7|3|06|10q25.2-q25.3|TCF7L2, TCF4|C|Transcription factor 7-like 2||602228|A, Fd|||{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)| | ||
10.480|8|26|09|10q25.3|TDRD1|P|Tudor domain protein 1||605796|R, REc|||| | ||
10.481|1|29|07|10q25.3|TRUB1, PUS4|P|TRUB pseudouridine synthase, E. coli, homolog of, 1||610726|REc|||| | ||
10.482|10|11|05|10q25.1|XPNPEP1, SAMP, XPNPEPL|C|X-prolyl aminopeptidase P1||602443|A, REa|||| | ||
10.483|11|5|95|10q26.11|GPR10|P|G protein-coupled receptor-10||600895|A|||| | ||
10.484|10|29|09|10q26.13|DMBT1|P|Deleted in malignant brain tumors 1||601969|D|||| | ||
10.485|9|21|11|10q25.3-q26.1|PDZD8|P|PDZ domain-containing protein 8||614235|REc|||| | ||
10.486|3|11|08|10q26.2|BCCIP, TOK1|P|BRCA2- and CDKN1A-interacting protein||611883|A, REc|||| | ||
10.487|5|4|12|10q26.13|HTRA1, PRSS11, ARMD7, CARASIL|P|HTRA serine peptidase 1||602194|A|||{Macular degeneration, age-related, 7}, 610149 (3); {Macular|degeneration, age-related, neovascular type}, 610149 (3); CARASIL syndrome, 600142 (3)| ||
10.488|9|14|05|10q26.13|PLEKHA1, TAPP1|C|Pleckstrin homology domain-containing protein, family A, member 1||607772|REc|||{Age-related maculopathy, susceptibility to}, 603075 (2)| | ||
10.489|8|20|98|10q25.3-q26.3|ADORA2L1, ADORA2L|P|Adenosine A2 receptor-like 1||102777|A|||| | ||
10.490|7|20|09|10q25.3|ATRNL1, KIAA0534, ALP|P|Attractin-like 1||612869|R, REc|||| | ||
10.491|7|1|09|10q26.11|CASC2|P|Cancer susceptibility candidate 2||608598|REc|head-to-head orientation with RAB11FIP2||| | ||
10.492|9|7|10|10q26.13|CHST15, BRAG, KIAA0598|C|Carbohydrate sulfotransferase 15||608277|R, REa|||| | ||
10.493|4|7|13|10q26|CORD17|P|Cone-rod dystrophy 17||615163|Fd|between D10S1757 and D10S1782||Cone-rod dystrophy 17 (2)| | ||
10.494|11|16|08|10q26|DEL10q26, C10q26DEL|P|Chromosome 10q26 deletion syndrome||609625|Ch|||Chromosome 10q26 deletion syndrome (4)| | ||
10.495|4|30|09|10q26.2|DHX32, DDX32|P|DEAH (Asp-Glu-Ala-His) box polypeptide 32||607960|REc|||| | ||
10.496|10|3|07|10q26.11|EIF3A, EIF3S10, P167|P|Eukaryotic translation initiation factor 3, subunit A||602039|REc, A|||| | ||
10.497|9|1|05|10q26|ENDO1|P|Endometriosis, susceptibility to, 1||131200|Fd|max lod at D10S587||{Endometriosis, susceptibility to, 1} (2)| | ||
10.498|2|19|04|10q26.13|FGFR2, BEK, CFD1, JWS, TK14, BBDS|C|Fibroblast growth factor receptor-2 (bacteria-expressed kinase)||176943|A, Psh, Fd|||Crouzon syndrome, 123500 (3); Jackson-Weiss syndrome, 123150 (3); Beare-Stevenson cutis gyrata syndrome, 123790 (3); Pfeiffer syndrome, 101600|(3); Apert syndrome, 101200 (3); Saethre-Chotzen syndrome, 101400 (3);|Craniosynostosis, nonspecific (3); Gastric cancer, somatic, 613659 (3); Craniofacial-skeletal-dermatologic dysplasia, 101600 (3); Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3); Scaphocephaly and Axenfeld-Rieger anomaly (3); LADD syndrome, 149730 (3); Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3); Bent bone dysplasia syndrome, 614592 (3)|7(Fgfr2)|
10.499|6|29|98|10q25.3|GFRA1, GDNFRA, GDNFR|C|GDNF family receptor, alpha-1||601496|A, R|||| | |19(Gfra1)|
10.500|9|12|93|10q26.3|MGMT|C|Methylguanine-DNA methyltransferase||156569|REa, A|||| | ||
10.501|5|7|01|10q26.3|NKX6B, NKX6.2|P|NK homeo box, family 6, member B (Nkx6.2, mouse, homolog of)||605955|REc, R|||| | |7(Nkx6b)|
10.502|4|20|10|10q26.13|OAT, GACR|C|Ornithine aminotransferase||613349|S, REa, A, Fd|pseudogene at Xp11.2||Gyrate atrophy of choroid and retina with or without|ornithinemia, 258870 (3) | |7(Oat)|
10.503|5|7|01|10q23.3-q24.1|PDLIM1, CLP36, CLIM1|P|PDZ and LIM domain protein 1||605900|A, R, REa|||| | ||
10.504|1|1|96|10q26.2|PTPRE|C|Protein tyrosine phosphatase, receptor type, epsilon||600926|A|||| | |7(Ptpre)|
10.505|12|29|06|10q26.11|RAB11FIP2, KIAA0941|P|RAB11 family-interacting protein 2||608599|REc|||| | ||
10.506|1|25|05|10q26|RRIS|P|Respiratory rhythmicity in sleep||609116|Fd|||[Respiratory rhythmicity in sleep] (2)| | ||
10.507|1|31|01|10q26.13|TACC2|P|Transforming, acidic, coiled-coil-containing protein 2||605302|REc|||| | ||
10.508|8|17|99|10q26.3|UTF1|P|Undifferentiated embryonic cell transcription factor 1||604130|A|||| | |7(Utf1)|
10.509|10|11|12|10q26.12|WDR11, DR11, KIAA1351, BRWD2, HH14|P|WD repeat-containing protein 11||606417|REc, Ch|||Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)| | ||
10.510|4|15|02|10q26.11|EMX2|P|Empty spiracles, Drosophila, homolog of, 2||600035|REa, A|close to VAX1||Schizencephaly, 269160 (3)| | |19(Emx2)|
10.511|5|23|14|10q26.3|JAKMIP3, C10orf39, NECC2, JAMIP3|P|Janus kinase and microtubule interacting protein 3||611198|REc|||| | ||
10.512|3|20|03|10q26.11|EMX2OS|P|EMX2 opposite strand||607637|REc|non-coding RNA||| | |19(Emx2os)|
10.513|10|4|91|10q25.3|PNLIP, PNLIPD|P|Pancreatic lipase||246600|REa, A|||Pancreatic lipase deficiency, 614338 (1)| | ||
10.514|12|31|99|10q25.3|VAX1, MCOPS11|P|Ventral anterior homeo box 1||604294|H, REc|||Microphthalmia, syndromic 11, 614402 (3)| | |19(Vax1)|
10.515|4|17|07|10q26.11|MCMBP, C10orf119|P|Minichromosome maintenance complex-binding protein||610909|R, REc|||| | ||
10.516|9|23|13|10q26.11|NANOS1, NOS1, SPGF12|P|NANOS, Drosophila, homolog of, 1||608226|R, REc|||Spermatogenic failure 12, 615413 (3)| | ||
10.517|1|2|14|10q26.11|SFXN4, COXPD18|C|Sideroflexin 4||615564|REc|||Combined oxidative phosphorylation deficiency 18, 615578 (3)| | ||
10.518|1|16|07|10q25.3|HSPA12A, KIAA0417|P|Heat-shock 70kD protein 12A||610701|R, REc|||| | |19(Hspa12a)|
10.519|4|23|08|10q26.13|CTBP2|P|C-terminal-binding protein 2||602619|REc|||| | ||
10.520|4|23|09|10q26.13|FAM175B, ABRO1, KIAA0157|P|Family with sequence similarity 175, member B||611144|Psh, REc|||| | ||
10.521|4|26|10|10q26.13|HMX3, NKX5.1|P|H6 family homeobox 3||613380|REc|||| | |7(Hmx3)|
10.522|3|10|11|10q26.13|LOC387715, ARMD8|P|LOC387715 gene||611313|REc, Fd|||{Macular degeneration, age-related, 8}, 613778 (3)| | ||
10.523|8|8|13|10q26.13|MMP21|P|Matrix metalloproteinase 21||608416|REc|||| | ||
10.524|9|9|09|10q26.13|NSMCE4A, NSE4A|P|Non-SMC element 4, S. cerevisiae, homolog of, A||612987|REc|||| | ||
10.525|1|23|08|10q26.13|ZRANB1, TRABID|P|Zinc finger- and RAN-binding domain-containing protein 1||611749|R, REc|||| | ||
10.526|6|3|98|10q26.2|DOCK1, DOCK180|P|Dedicator of cytokinesis-1||601403|A|||| | ||
10.527|12|18|07|10q26.2|FANK1|P|Fibronectin type III and ankyrin repeat domains 1||611640|R, REc|||| | ||
10.528|8|17|09|10q26.2|NPS|P|Neuropeptide S||609513|REc|||| | ||
10.529|6|19|98|10q26.3|ECHS1, SCEH|P|Enoyl-CoA hydratase, short-chain, 1, mitochondrial||602292|A|||| | ||
10.530|5|11|00|10q26.13|GPR26|P|G protein-coupled receptor 26||604847|A|||| | ||
10.531|7|13|98|10q26.3|ADAM8, CD156|P|A disintegrin and metalloprotease domain 8||602267|A|||| | |7(Adam8)|
10.532|12|11|98|10q26.2|ADAM12, MLTN|P|A disintegrin and metalloproteinase domain 12 (Meltrin-alpha, mouse,|homolog of)|602714|A, R|||| | ||
10.533|6|10|11|10q26.3|BNIP3, NIP3|P|BCL2/adenovirus E1B 19-kD protein-interacting protein 3||603293|REc|||| | ||
10.534|1|2|03|10q26.3|EBF3, COE3|P|Early B-cell factor 3||607407|REc|||| | ||
10.535|5|12|09|10q26.3|GLRX3, PICOT|P|Glutaredoxin 3||612754|REc|||| | ||
10.536|9|23|08|10q26.3|GPR123, KIAA1828|P|G protein-coupled receptor 123||612302|REc|||| | ||
10.537|1|20|98|10q26.3|INPP5A|P|Inositol polyphosphate-5-phosphatase, 40kD||600106|A|||| | ||
10.538|9|8|11|10q26.3|PPP2R2D|P|Protein phosphatase 2, regulatory subunit B, delta||613992|REc|||| | ||
10.539|12|20|05|10q26.3|PRAP1|P|Proline-rich acidic protein 1||609776|R, REc|||| | ||
10.540|12|3|04|10q26.3|OMS|P|Otitis media susceptibility to||166760|Fd|also 19q, 3p||{Otitis media, susceptibility to} (2)| | ||
10.541|12|1|06|10q26.3|SPRN, SHADOO, SHO|P|Shadow of prion protein||610447|REc|||| | |7(Sprn)|
10.542|5|27|09|10q26.3|SYCE1|P|Synaptonemal complex central element protein 1||611486|REc|||| | ||
10.543|6|12|12|10q26.3|VENTX, VENTX2, HPX42B|P|VENT homeobox||607158|A|||| | ||
11.1|1|27|04|11q14.1|ALG8, CDG1H|P|Alg8, S. cerevisiae, homolog of||608103|REc|||Congenital disorder of glycosylation, type Ih, 608104 (3)| | ||
11.2|12|11|01|11p15.2|RRAS2, TC21|P|Related Ras viral oncogene homolog 2||600098|R|||Ovarian carcinoma (3)| | ||
11.3|7|20|09|11p15.4|AMPD3|P|Adenosine monophosphate deaminase-3, isoform E||102772|REa|||[AMP deaminase deficiency, erythrocytic], 612874 (3)| | |7(Ampd3)|
11.4|5|4|12|11p13|CD44, MDU2, MDU3, MIC4, IN|P|CD44 antigen (homing function)||107269|S|||[Blood group, Indian system], 609027 (3)| | |2(Ly24)|
11.5|3|6|94|11pter-p11.2|TP250|P|T-cell activation antigen p250||186710|S|||| | ||
11.6|5|12|08|11p15.5|AP2A2, KIAA0899|P|Adaptor-related protein complex 2, alpha-2 subunit||607242|R, REc|||| | ||
11.7|8|4|97|11p15.5|ASCL2|P|Achaete-scute complex, Drosophila, homolog-like 2||601886|A|||| | ||
11.8|9|23|13|11p15.5|BET1L, GS15|P|BET1-like protein||615417|REc|||| | ||
11.9|5|23|13|11p15.5|BRSK2, SAD1, PEN11B|P|BR serine/threonine kinase 2||609236|A|||| | ||
11.10|8|20|07|11p15.5|C11orf21|P|Chromosome 11 open reading frame 21||611033|REc|||| | ||
11.11|11|4|93|11p15.4|CARS|P|Cysteinyl-tRNA synthetase||123859|REa, A|||| | ||
11.12|7|20|06|11p15.5|CD151, PETA3, SFA1, MER2|C|CD151 antigen||602243|A, S, REa|||Nephropathy with pretibial epidermolysis bullosa and deafness,|609057 (3); [Blood group, Raph], 179620 (3) | ||
11.13|12|10|10|11p15.5|CDHR5, MUCDHL|P|Cadherin-related family, member 5||606839|REc|||| | ||
11.14|7|20|12|11p15.4|CDKN1C, KIP2, BWS, IMAGE|C|Cyclin-dependent kinase inhibitor 1C (p57, Kip2)||600856|A, Ch, Fd|rare cause of BWS||Beckwith-Wiedemann syndrome, 130650 (3); IMAGE syndrome, 614732 (3)| | |7(Kip2)|
11.15|12|19|11|11p15.5|CEND1, BM88|P|Cell cycle exit and neuronal differentiation 1||608213|REc, A|||| | ||
11.16|11|28|01|11p15.4|CHRNA10|P|Cholinergic receptor, neuronal nicotinic, alpha polypeptide 10||606372|A, R|||| | ||
11.17|5|31|06|11p15.5|CTSD, CPSD, CLN10|C|Cathepsin D (lysosomal aspartyl protease)||116840|REa, A|||Ceroid lipofuscinosis, neuronal, 10, 610127 (3)| | ||
11.18|11|16|10|11p15.5|DRD4|C|Dopamine receptor D4||126452|Fd|proximal to HRAS||Autonomic nervous system dysfunction (3); [Novelty seeking|personality], 601696 (1); {Attention deficit-hyperactivity disorder}, 143465 (3)| ||
11.19|3|9|98|11p15.5|DUSP8, HVH8|P|Dual specificity phosphatase-8||602038|A|pseudogene on 10q11.2||| | |7(Dusp8)|
11.20|9|6|11|11p15.5|EFCAB4A, CRACR2B|P|EF-hand calcium-binding domain-containing protein 4A||614177|REc|||| | ||
11.21|7|23|09|11p15.5|H19, D11S813E, ASM1, BWS, WT2|C|H19 gene||103280|REa, A, RE|same 200kb fragment as IGF2||Beckwith-Wiedemann syndrome, 130650 (3); Silver-Russell syndrome,|180860 (3); Wilms tumor 2, 194071 (3) | |7(H19)|
11.22|4|23|08|11p15.5|HCCA2|P|HCCA2 gene||611969|REc|||| | ||
11.23|8|9|12|11p15.5|IFITM1, IFI17, LEU13|P|Interferon-induced transmembrane protein 1||604456|R, REc|||| | ||
11.24|8|9|12|11p15.5|IFITM2|P|Interferon-induced transmembrane protein 1||605578|R, REc|||| | ||
11.25|7|20|12|11p15.5|IFITM3|P|Interferon-induced transmembrane protein 3||605579|R, REc|||{Influenza, severe, susceptibility to}, 614680 (3)| | ||
11.26|9|21|12|11p15.5|IFITM5, OI5|P|Interferon-induced transmembrane protein 5||614757|REc|||Osteogenesis imperfecta, type V, 610967 (3)| | ||
11.27|3|18|13|11p15.5|IRF7, IRF7A, IRF7B, IRF7C, IRF7H|P|Interferon regulatory factor 7||605047|REc|||| | ||
11.28|10|28|10|11p15.5-p15.4|KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2|C|Potassium voltage-gated channel, KQT-like subfamily, member 1||607542|Fd|||Long QT syndrome-1, 192500 (3); Jervell and Lange-Nielsen syndrome,|220400 (3); Atrial fibrillation, familial, 3, 607554 (3); Short QT syndrome-2, 609621 (3); {Long QT syndrome 1, acquired, susceptibility to}, 192500 (3)| |7(Kcnq1)|
11.29|2|11|08|11p15.5|KIAA1542|P|KIAA1542 gene||611780|R, REc|||| | ||
11.30|8|25|03|11p15.5|LCRB|C|Locus control region beta||152424|REc|||Thalassemia, Hispanic gamma-delta-beta, 613985 (3)| | ||
11.31|9|9|09|11p15.5|MIR210, MIRN210|P|Micro RNA 210||612982|REc|||| | ||
11.32|3|31|09|11p15.4|MRGPRG, MRGG|P|MAS-related G protein-coupled receptor family, member G||607234|REc|||| | ||
11.33|8|28|92|11p15.5|MUC2|C|Mucin 2, intestinal/tracheal||158370|REa|||| | ||
11.34|6|13|95|11p15.5|MUC5AC, MUC5|C|Mucin 5, subtypes A and C, tracheobronchial/gastric||158373|REa, A|||| | ||
11.35|2|28|13|11p15.4|HBB|C|Hemoglobin beta||141900|LD, AAS, F, Fd|pseudogene HBBP1 between HBG and HBD loci||Sickle cell anemia, 603903 (3); Thalassemias, beta-, 613985 (3);|Erythremias, beta- (3); Methemoglobinemias, beta- (3); Heinz body anemias, beta-, 140700 (3); Thalassemia-beta, dominant inclusion-body, 603902 (3);|Hereditary persistence of fetal hemoglobin, 141749 (3); Delta-beta thalassemia, 141749 (3); {Malaria, resistance to}, 611162 (3)|7(Hbb)|
11.36|6|16|97|11p15.4|HBD|C|Hemoglobin delta||142000|AAS|||Thalassemia, delta- (3); Thalassemia due to Hb Lepore (3)| | ||
11.37|11|13|07|11p15.4|HBG1|C|Hemoglobin, gamma A||142200|RE|||Fetal hemoglobin quantitative trait locus 1, 141749 (3)| | ||
11.38|6|15|11|11p15.4|HBG2, TNCY|C|Hemoglobin, gamma G||142250|RE|||Fetal hemoglobin quantitative trait locus 1, 141749 (3); Cyanosis,|transient neonatal, 613977 (3) | ||
11.39|3|1|89|11p15.4|HBE1|C|Hemoglobin epsilon||142100|RE|||| | ||
11.40|9|2|12|11p15.5|HRAS|C|Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog||190020|S|pseudogene HRASP on X||{Bladder cancer, somatic}, 109800 (3); Costello syndrome, 218040 (3);|{Thyroid carcinoma, follicular, somatic}, 188470 (3); Congenital myopathy with excess of muscle spindles, 218040 (3); {Nevus sebaceous, somatic}, 162900 (3);|Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3) |7(Hras1)|
11.41|12|10|12|11p15.5|IGF2|C|Insulin-like growth factor-2, or somatomedin A||147470|REa, A, RE|||| | |7(Igf2)|
11.42|7|8|13|11p15.5|IGF2AS, PEG8|P|Insulin-like growth factor II, antisense||610146|REc|||| | ||
11.43|4|26|10|11p15.5|INS, MODY10, IDDM2|C|Insulin||176730|HS, A, REb, Fd, D|5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH||Hyperproinsulinemia, familial, with or without diabetes (3);|Maturity-onset diabetes of the young, type 10, 613370 (3); Diabetes mellitus, permanent neonatal, 606176 (3); Diabetes mellitus, type 1, 125852 (3);|Diabetes mellitus, insulin-dependent, 2, 125852 (3) |6(Ins1); 7(Ins2)|
11.44|2|28|03|11p15.5|IRDN, ILPR|P|Insulin-related DNA polymorphism|(insulin-related VNTR)|147510|Fd|||| | ||
11.45|5|22|07|11p15.4|KCNQ1DN|P|KCNQ1 downstream neighbor||610980|REc|||| | ||
11.46|8|16|99|11p15.5|KCNQ1OT1, LIT1|C|KCNQ1-overlapping transcript 1||604115|REc|||Beckwith-Wiedemann syndrome, 130650 (3)| | |7(Kcnq10t1)|
11.47|12|19|90|11p15.5|KRTAP5-1, KRN1L|P|Keratin associated protein 5-1||148022|A|||| | ||
11.48|3|23|93|11p15.5|LSP1|P|Lymphocyte-specific protein pp52||153432|A|||| | ||
11.49|11|22|13|11p15.5|MIR675|P|Micro RNA 675||615509|REc|||| | ||
11.50|3|7|06|11p15.5|NALP6, PYPAF5|P|NACHT domain-, leucine-rich repeat-, and PYD-containing protein 6||609650|REc|||| | ||
11.51|6|9|98|11p15.4|NAP1L4, NAP2L, NAP2|P|Nucleosome assembly protein 1-like 4||601651|REc|||| | ||
11.52|1|27|04|11p15.5|ODF3, SHIPPO1|P|Outer dense fiber of sperm tails 3||608356|REc|||| | |7(Odf3)|
11.53|5|23|13|11p15.4|PGAP2, FRAG1, HPMRS3, MRT17, MRT21|P|Post-GPI attachment to proteins 2||615187|A, R|||Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)| | ||
11.54|10|28|04|11p15.4|PHLDA2, TSSC3, IPL, BRW1C|P|Pleckstrin homology-like domain, family A, member 2||602131|REn|||| | |7(Ipl)|
11.55|1|24|07|11p15.5|PNPLA2, TTS2, ATGL|P|Patatin-like phospholipase domain-containing protein 2||609059|R|||Neutral lipid storage disease with myopathy, 610717 (3)| | |7(Pnpla2)|
11.56|9|24|12|11p15.5|PSMD13, S11|P|Proteasome 26S subunit, non-ATPase, 13||603481|REc, R|||| | ||
11.57|5|26|09|11p15.5|PTDSS2, PSS2|P|Phosphatidylserine synthase 2||612793|REc|||| | ||
11.58|9|7|12|11p15.5|RASSF7, C11orf13, HRC1|P|RAS association domain family, member 7||143023|REn|29kb 5' to HRAS1; divergently transcribed||| | ||
11.59|12|10|12|11p15.5|RIC8A|P|Ric8, C. elegans, homolog of, A||609146|REc, R|||| | ||
11.60|10|12|90|11p15.5|RNH|C|Placental ribonuclease inhibitor||173320|REa, A|distal to IGHF2||| | ||
11.61|12|22|98|11p15.5|RPL23L, L23MRP, MRPL23|P|Ribosomal protein L23-like (L23 mitochondrial-related protein)||600789|REn|||| | ||
11.62|6|22|12|11p15.5|RPLP2|P|Ribosomal phosphoprotein, large, P2||180530|REc|||| | ||
11.63|7|13|93|11p15.4|RRM1|C|Ribonucleotide reductase, M1 polypeptide||180410|S, REa, A|||| | |7(Rrm1)|
11.64|2|14|01|11p15.5|SCT|P|Secretin||182099|R|||| | ||
11.65|1|30|01|11p15.5|SIGIRR|P|Single immunoglobulin domain-containing IL1R-related protein||605478|R|||| | ||
11.66|5|4|00|11p15.5|SIRT3, SIR2L3|P|Sirtuin, S. cerevisiae, homolog 3||604481|REc|||| | ||
11.67|2|3|00|11p15.4|SLC22A1LS, ORCTL2S, BWSCR1B|P|Solute carrier family 22, member 1-like-antisense||603240|REc|||| | ||
11.68|6|23|11|11p15.4|SLC22A1L, BWSCR1A, IMPT1|P|Solute carrier family 22, member 1-like (Beckwith-Wiedemann region 1A;|organic-cation transporter-like 2)|602631|REn|||Breast cancer, somatic, 114480 (3); Rhabdomyosarcoma, somatic, 268210|(3); Lung cancer, somatic, 211980 (3) | ||
11.69|4|7|05|11p15.5|SLC25A22, GC1, EIEE3|P|Solute carrier family 25 (mitochondrial carrier, glutamate), member 22||609302|REc, Fd|||Epileptic encephalopathy, early infantile, 3, 609304 (3)| | ||
11.70|12|11|03|11p15.5|SLEN3|P|Systemic lupus erythematosus with nephritis, susceptibility to, 3||607967|Fd|||{Systemic lupus erythematosus with nephritis, susceptibility to, 3}|(2) | ||
11.71|10|10|13|11p15.4|STIM1, TAM, IMD10|P|Stromal interaction molecule 1||605921|REn|||Immunodeficiency 10, 612783 (3); Myopathy, tubular aggregate,|160565 (3) | ||
11.72|5|22|13|11p15.5|SYT8|P|Synaptotagmin 8||607719|REc|||| | ||
11.73|1|20|09|11p15.5|TH, TYH|C|Tyrosine hydroxylase||191290|REa, A, Fd, RE|distal to HRAS1||Segawa syndrome, recessive, 605407 (3)| | |7(Th)|
11.74|3|3|03|11p15.5|TNNI2, AMCD2B, DA2B, FSSV|C|Troponin I, fast-twitch skeletal muscle isoform||191043|R, Fd|||Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)| | ||
11.75|8|11|03|11p15.5|TNNT3, AMCD2B, DA2B, FSSV|C|Troponin-T3, skeletal, fast||600692|REa, A, Fd|||Arthyrgryposis, distal, type 2B, 601680 (3)| | |7(Tnnt3)|
11.76|3|8|07|11p15.4|TRIM21, SSA1, RO52|P|Tripartite motif-containing protein 21||109092|A|||| | ||
11.77|7|9|06|11p15.5|TOLLIP|P|Toll-interacting protein||606277|R, REc|||| | ||
11.78|1|5|12|11p15.4|TPP1, CLN2|C|Tripeptidyl peptidase 1||607998|Fd, LD|||Ceroid lipofuscinosis, neuronal, 2, 204500 (3)| | ||
11.79|1|14|02|11p15.5|TRPM5, MTR1|P|Transient receptor potential cation channel, subfamily M, member 5|(MLSN1- and TRP-related gene 1)|604600|REc|maternal allele imprinted||| | |7(Mtr1)|
11.80|1|20|06|11p15.5|TSPAN4, TM4SF7, NAG2|P|Tetraspanin 4||602644|REc|||| | ||
11.81|1|20|06|11p15.5|TSPAN32, PHEMX, TSSC6|P|Tetraspanin 32||603853|RE|not imprinted||| | ||
11.82|11|2|04|11p15.5|TSSC2|P|Tumor-suppressing subtransferable fragment candidate gene 2||608999|REc|||| | ||
11.83|8|31|99|11p15.5|TSSC4|P|Tumor-suppressing subchromosomal transferable fragment cDNA 4||603852|RE|not imprinted||| | ||
11.84|3|9|98|11p15.4|ZNF195|P|Zinc finger protein-195||602187|REc|||| | ||
11.85|12|4|02|11p15.4|FXC1, TIMM10B|P|Fracture callus 1, rat, homolog of||607388|A, R|||| | ||
11.86|7|13|93|11p15.4|ARHG|P|ras homolog gene family, member G (rho G)||179505|A|||| | ||
11.87|3|6|94|11p15.4|CCKBR, GASR|C|Cholecystokinin B receptor||118445|REa, A|||| | |7(Cckbr)|
11.88|12|17|87|11p15.4|HPX|C|Hemopexin||142290|REa, A|||| | ||
11.89|6|25|99|11p15.4|ILK, P59|P|Integrin-linked kinase||602366|A|||| | ||
11.90|2|26|08|11p15.4|MRPL17|P|Mitochondrial ribosomal protein L17||611830|R|||| | ||
11.91|2|20|97|11p15.5|MUC6|P|Mucin 6, gastric||158374|A|order: tel-HRAS-MUC6-MUC2-MUC5AC-MUC5B-IGF2-cen||| | ||
11.92|8|9|01|11p15.5|TALDO1|P|Transaldolase-1||602063|REa, A, R|pseudogene on chr.1||Transaldolase deficiency, 606003 (3)| | ||
11.93|10|16|89|11p15.1|LDHC, LDH3|C|Lactate dehydrogenase C||150150|REa, A, REb|closely linked to LDHB in other species; in man syntenic with|LDHA; ?close to LDHA|| | |7(Ldh3)|
11.94|7|15|99|11p15.4|ADM|C|Adrenomedullin||103275|REa|||| | |7(Adm)|
11.95|10|2|12|11p15.4|ARFIP2, POR1|P|ADP-ribosylation factor-interacting protein 2||601638|REc|||| | ||
11.96|3|20|09|11p15.4|CYB5R2|P|Cytochrome b5 reductase 2||608342|REc|||| | ||
11.97|12|5|13|11p15.4|DCHS1, PCDH16, FIB1, CDH19, VMLDS1|P|Dachsous, Drosophila, homolog of, 1||603057|REc|||Van Maldergem syndrome 1, 601390 (3)| | ||
11.98|10|3|07|11p15.4|EIF3F, EIF3S5|P|Eukaryotic translation initiation factor 3, subunit F||603914|REc|||| | ||
11.99|8|17|09|11p15.1|LDHA, LDH1, GSD11|C|Lactate dehydrogenase A||150000|S, D, REb, C, A|||Glycogen storage disease XI, 612933 (3)| | |7(Ldh1)|
11.100|1|11|07|11p15.4|MMVP2|P|Mitral valve prolapse, myxomatous 2||607829|Fd|||Mitral valve prolapse, myxomatous 2 (2)| | ||
11.101|3|31|09|11p15.4|MRGPRE, MRGE|P|Mas-related G protein-coupled receptor family, member E||607232|REc|||| | ||
11.102|4|30|91|11p15.1|MYOD1, MYF3|C|Myogenic factor-3||159970|REa, A|proximal to CALCA, HBB, BWS, PTH; ?11p14.3||| | |7(Myod1)|
11.103|4|17|13|11p15.4|NLRP1, NALP14, NOD5|P|NLR family, pyrin domain containing 1||609665|REc|||| | ||
11.104|8|8|13|11p15.4|OR10A1|P|Olfactory receptor, family 10, subfamily A, member 1||608493|REc, A|||| | ||
11.105|8|8|13|11p15.4|OR2D2|P|Olfactory receptor, family 2, subfamily D, member 2||608494|REc, A|||| | ||
11.106|8|19|13|11p15.4|OR51E1, DGPCR, PSGR2|P|Olfactory receptor, family 51, subfamily E, member 1||611267|REn|||| | ||
11.107|8|19|13|11p15.4|OR51E2, PSGR|P|Olfactory receptor, family 51, subfamily E, member 2||611268|REn|||| | ||
11.108|5|7|03|11p15.4|OSBPL5, ORP5, KIAA1534|C|Oxysterol-binding protein-like protein 5||606733|R, REc|||| | ||
11.109|12|10|12|11p15.4|RIC3|P|Resistance to inhibitors of cholinesterase 3, C. elegans, homolog of||610509|REc|||| | ||
11.110|4|19|12|11p15.4|SCUBE2|P|Signal peptide-, CUB domain-, and EGF-like domains-containing protein|2|611747|REc|||| | ||
11.111|8|17|10|11p15.4|SYT9|P|Synaptotagmin 9||613528|REc|||| | ||
11.112|4|17|12|11p15.4|TRIM3, RNF22, BERP|P|Tripartite motif-containing 3||605493|R, REc|||| | ||
11.113|4|23|08|11p15.4|TRIM66, TIF1D, KIAA0298|P|Tripartite motif-containing protein 66||612000|R, REc|||| | ||
11.114|12|21|09|11p15.4|TRIM68, SS56, GC109|P|Tripartite motif-containing protein 68||613184|REc|incorrectly assigned to 2p24 by FISH||| | ||
11.115|6|26|00|11p15.4|ZNF214|P|Zinc finger protein-214||605015|REc|||| | ||
11.116|6|26|00|11p15.4|ZNF215|P|Zinc finger protein-215||605016|REc|||| | ||
11.117|2|28|01|11p15.4|TRIM34, RNF21, IFP1|P|Tripartite motif-containing 34|(RING finger protein-21)|605684|A|||| | ||
11.118|6|6|00|11p15.4|ZNF143, SBF|P|Zinc finger protein-143||603433|A|||| | ||
11.119|3|31|03|11p15.4|SMPD1, NPD|C|Sphingomyelin phosphodiesterase-1, acid lysosomal||607608|REa, A|||Niemann-Pick disease, type A, 257200 (3); Niemann-Pick disease, type|B, 607616 (3) | |7(Smpd1)|
11.120|9|11|08|11p15.4|AKIP1, BCA3, C11orf17|P|Protein kinase A-interacting protein 1||609191|R, REc|||| | |7(Akip1)|
11.121|4|6|13|11p15.3|GALNT18, GALNACT18, GALNTL4|P|UPD-N-acetyl-alpha-D-galactosamine:polypsptide|N-acetylgalactosaminyltransferase 18|615136|REc|||| | ||
11.122|10|28|08|11p15.3|MICAL2, KIAA0750|P|Microtubule-associated monooxygenase, calponin and LIM|domains-containing 2|608881|R, REc|||| | ||
11.123|10|28|08|11p15.3|MICALCL, EBITEIN1|P|MICAL C terminus-like protein||612355|REc|||| | ||
11.124|12|2|09|11p15.4|NRIP3|P|Nuclear receptor-interacting protein 3||613125|REc|||| | ||
11.125|5|16|05|11p15.3|SH2BP1, KIAA0155, p150|P|SH2 domain-binding protein 1||609366|Psh, REc|||| | |7(Sh2bl1)|
11.126|4|3|03|11p15.4|STK33|P|Serine/threonine protein kinase 33||607670|REc, H|||| | |7(Stk33)|
11.127|12|4|01|11p15.4|TAF10, TAF2H, TAF2A|C|TAF10 RNA polymerase II, TATA box-binding protein-associated factor,|30kD|600475|A|||| | ||
11.128|2|23|12|11p15.3|USP47|P|Ubiquitin-specific protease 47||614460|REc|||| | ||
11.129|5|29|13|11p15.3|ZBED5, BUSTER1|P|Zinc finger BED domain-containing protein 5||615251|REc|||| | ||
11.130|10|7|02|11p15.2-p15.1|SOX6|P|SRY-box 6||607257|A|||| | |7(Sox6)|
11.131|7|20|06|11p15.2|PTH|C|Parathyroid hormone||168450|REa, REb, A, Fd|~9cM distal to CALC1; distal to MYOD||Hypoparathyroidism, autosomal dominant, 146200 (3);|Hypoparathyroidism, autosomal recessive, 146200 (3) | |7(Pth)|
11.132|3|23|93|11p15.4|WEE1|P|wee1+, S. pombe, homolog of||193525|A|||| | ||
11.133|8|21|91|11p15.1|TPH1, TPH|C|Tryptophan hydroxylase 1 (tryptophan-5-monooxygenase)||191060|REa, A|||| | |7(Tph)|
11.134|10|15|10|11p15.2|COPB1, COPB|P|Coatomer protein complex, subunit beta 1||600959|REc|||| | ||
11.135|7|20|04|11p15.2|CYP2R1|P|Cytochrome P450, subfamily IIR, polypeptide 1|(vitamin D 25-hydroxylase)|608713|REc|||Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)| | ||
11.136|12|29|06|11p15.2|INSC|P|Inscuteable, Drosophila, homolog of||610668|REc|||| | ||
11.137|7|18|12|11p15.2|RASSF10|P|Ras association domain family, member 10||614713|REc|||| | ||
11.138|9|18|06|11p15.3-p15.2|TEAD1, TCF13, REF1|C|TEA domain family member 1||189967|Psh, R|||Sveinsson choreoretinal atrophy, 108985 (3)| | ||
11.139|5|8|97|11p15.2|CALCA, CALC1|C|Calcitonin/calcitonin-related polypeptide, alpha||114130|REa, A, REb, D, Fd, REn|same 220kb fragment as CALCB||| | |7(Calc)|
11.140|3|23|93|11p15.2|CALCB, CALC2|C|Calcitonin-related polypeptide, beta||114160|A, REa, REb, D|||| | ||
11.141|6|19|98|11p15.1|NELL1|P|Nel-like 1||602319|A|||| | ||
11.142|2|18|96|11p15.1|PTPN5, STEP|P|Protein tyrosine phosphatase, nonreceptor-type, 5 (striatum-enriched)||176879|Psh, A|||| | |7(Ptpn5)|
11.143|5|10|12|11p15.1|SLC6A5, GLYT2, HKPX3|C|Solute carrier family 6 (neurotransmitter transporter, glycine),|member 5|604159|R|||Hyperekplexia 3, 614618 (3)| | ||
11.144|3|31|97|11p15.1|TSG101|P|Tumor susceptibility gene 101||601387|R, A|||Breast cancer, somatic, 114480 (3)| | ||
11.145|4|27|07|11p15.1|UEVLD, UEV3, ATTP|P|Ubiquitin E2 variant and lactate/malate dehydrogenase|domains-containing protein|610985|REc|||| | ||
11.146|7|14|98|11p14.3|GAS2|C|Growth arrest-specific 2||602835|R, A, H|||| | |7(Gas2)|
11.147|8|31|06|11p15.1|ABCC8, SUR, PHHI, SUR1, HHF1, TNDM2|C|ATP-binding cassette, subfamily C, member 8 (sulfonylurea receptor)||600509|A, REn, Fd, LD|||Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3);|Hypoglycemia of infancy, leucine-sensitive, 240800 (3); Diabetes mellitus, transient neonatal 2,  610374 (3); Diabetes mellitus, noninsulin-dependent,|125853 (3); Diabetes mellitus, permanent neonatal, 606176 (3) ||
11.148|1|31|11|11p15.1|B7H6|P|B7 homolog 6||613714|REc|||| | ||
11.149|6|24|08|11p15.1|CSRP3, CRP3, CLP, CMD1M, CMH12|C|Cysteine- and glycine-rich protein 3||600824|A|||Cardiomyopathy, dilated, 1M, 607482 (3); Cardiomyopathy,|familial hypertrophic, 12, 612124 (3) | ||
11.150|6|9|08|11p15.1|E2F8|P|E2F transcription factor 8||612047|REc|||| | |7(E2f8)|
11.151|6|1|04|11p15.1|HTATIP2, TIP30, CC3|P|HIV-1 TAT-interacting protein 2, 30kD||605628|R, REc|||| | ||
11.152|11|30|06|11p15.1|KCNJ11, BIR, PHHI, HHF2, TNDM3|C|Potassium inwardly-rectifying channel, subfamily J, member 11||600937|A, REn, Fd, LD|4.5kb 3' of SUR||Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3);|Diabetes, permanent neonatal, 606176 (3); Diabetes mellitus, permanent neonatal, with neurologic features, 606176 (3); {Diabetes mellitus, type 2,|susceptibility to}, 125853 (3); Diabetes mellitus, transient neonatal, 3, 610582 (3)||
11.153|3|31|09|11p15.1|MRGPRX1, MRGX1|P|Mas-related G protein-coupled receptor family, member X1||607227|REc|||| | ||
11.154|3|31|09|11p15.1|MRGPRX2, MRGX2|P|Mas-related G protein-coupled receptor family, member X2||607228|REc|||| | ||
11.155|3|31|09|11p15.1|MRGPRX3, MRGX3|P|Mas-related G protein-coupled receptor family, member X3||607229|REc|||| | ||
11.156|3|31|09|11p15.1|MRGPRX4, MRGX4|P|Mas-related G protein-coupled receptor family, member X4||607230|REc|||| | ||
11.157|1|2|08|11p15.1|NAV2, RAINB1, KIAA1419|C|Neuron navigator 2||607026|R, REc|||| | ||
11.158|3|31|09|11p15.1|PLEKHA7|P|Pleckstrin homology domain-containing protein, family A, member 7||612686|REc|||| | ||
11.159|1|13|99|11p15.2|PSMA1, PROS30|P|Proteasome subunit, alpha-type, 1||602854|A|||| | ||
11.160|3|18|94|11p15.1|SAA1|C|Serum amyloid A1||104750|REa, H, A, Psh|||| | |7(Saa1)|
11.161|3|18|94|11p15.1|SAA2|C|Serum amyloid A2||104751|REn, A, Fd, Psh|pseudogene = SAA3||| | ||
11.162|3|18|94|11p15.1|SAA4|C|Serum amyloid A4, constitutive||104752|REn, A, Psh|||| | |7(Saa4)|
11.163|11|29|12|11p15.1|USH1C, DFNB18A|C|Harmonin (Usher syndrome 1C gene)||605242|Fd|Acadian and Samaritan variety||Usher syndrome, type 1C, 276904 (3); Deafness, autosomal recessive|18A, 602092 (3) | ||
11.164|7|15|09|11p15.1|ZDHHC13, HIP14L|P|Zinc finger DHHC domain-containing protein 13||612815|REc|||| | ||
11.165|3|18|95|11p15.1|GTF2H1|C|General transcription factor IIH, polypeptide 1 (62kD subunit)||189972|A, REn|within 50kb of LDHA||| | ||
11.166|6|19|98|11p15.4|APBB1, FE65|P|Amyloid beta A4 precursor protein-binding, family B, member-1||602709|A|||| | |7(Apbb1)|
11.167|8|20|98|11p15.2|ARNTL, BMAL1, TIC|P|Aryl hydrocarbon receptor nuclear translocator-like||602550|A|||| | |7(Arntl)|
11.168|2|24|97|11p15.4|ART1|P|ADP-ribosyltransferase 1||601625|REa|||| | |7(Art1)|
11.169|11|30|06|11p15.4|ART5|P|ADP-ribosyltransferase 5||610625|REc|||| | |7(Art5)|
11.170|6|19|98|11p15.3|EIF4G2, DAP5|P|Eukaryotic translation initiation factor 4G-like 1||602325|A, H|||| | |7(Eif4G2)|
11.171|1|9|13|11p15.5|EPS8L2, EPS8R2|P|EPS8-like protein 2||614988|REc|||| | |7(Eps8l2)|
11.172|12|29|99|11p14.3|FANCF|P|Fanconi anemia, complementation group F||613897|REc|||Fanconi anemia, complementation group F, 603467 (3)| | ||
11.173|8|20|07|11p15|GINGF4, HGF4, GGF4|P|Fibromatosis, gingival, 4||611010|Fd|between D11S1984 and D11S1338||Fibromatosis, gingival, 4 (2)| | ||
11.174|2|12|07|11p15|IH, HHP|P|Hemihyperplasia, isolated||235000|Fd|epigenetic or uniparental disomy||Hemihypertrophy (2)| | ||
11.175|3|23|93|11p15.1|KCNC1|C|Potassium voltage-gated channel, Shaw-related subfamily, member 1||176258|A, REn|||| | |7(Kcnc1)|
11.176|4|17|97|11p15.4|LMO1, RBTN1, RHOM1|C|LIM domain only 1 (rhombotin 1)||186921|Ch, D|||Leukemia, T-cell acute lymphoblastic (2)| | |7(Ttg1)|
11.177|7|26|10|11p15|LVNC2|P|Left ventricular noncompaction 2||609470|Fd|max lod at D11S902||Left ventricular noncompaction 2 (2)| | ||
11.178|1|8|01|11p15.4|MMP26|P|Matrix metalloproteinase 26 (matrilysin 2)||605470|REa, R|||| | ||
11.179|7|22|11|11p15.5|MUC5B|P|Mucin 5, subtype B, tracheobronchial||600770|REa, A|||{Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)| | ||
11.180|4|17|13|11p15.4|NLRP10, NALP10, PYNOD, NOD8|P|NLR family, pyrin domain containing 10||609662|REc|||| | ||
11.181|2|4|00|11p15.4|NUP98|C|Nucleoporin, 98kD||601021|Ch, REc, Psh|fused with HOXA9, NSD1, NSD3, PMX1, HOXC13, DDX10, TOP1, HOXD11 in|myeloid leukemia|| | ||
11.182|10|29|09|11p15.3|PARVA|P|Parvin, alpha||608120|REc|||| | ||
11.183|3|9|98|11p15.2|PDE3B|P|Phosphodiesterase-3B, cGMP-inhibited||602047|A, Psh|||| | ||
11.184|3|6|01|11p15.5|PKP3|P|Plakophilin-3||605561|A|||| | ||
11.185|2|16|01|11p15.5|POLR2L, RPB10|P|Polymerase II, RNA, subunit L||601189|A|||| | ||
11.186|9|24|08|11p15.4|RBMXL2, HNRNPGT, HNRPGT|C|RNA-binding motif protein, X chromosome, like 2||605444|A, R|||| | ||
11.187|2|20|01|11p15.4|RPL27A|C|Ribosomal protein L27a||603637|RE, R|||| | |7(Rpl27a)|
11.188|11|16|05|11p15.4|SBF2, MTMR13, CMT4B2|C|SET binding factor 2 (myotubularin-related 13)||607697|Fd, REc|||Charcot-Marie-Tooth disease, type 4B2, 604563 (3)| | ||
11.189|1|19|07|11p15|SCAR7|P|Spinocerebellar ataxia, autosomal recessive 7||609270|Fd|max lod at D11S1871||Spinocerebellar ataxia, autosomal recessive 7 (2)| | ||
11.190|10|23|92|11p15.4|ST5, HTS1|P|Suppression of tumorigenicity-5||140750|S, REa, A|||| | ||
11.191|5|23|00|11p15.4|SWAP70|P|Switch-associated protein 70||604762|A, H|||| | |7(Swap70)|
11.192|2|26|04|11p15.4|TRIM5, RNF88|P|Tripartite motif-containing protein 5||608487|R|||| | ||
11.193|2|19|03|11p15.4|TRIM6|P|Tripartite motif-containing protein 6||607564|R|||| | ||
11.194|2|19|03|11p15.4|TRIM22, STAF50|C|Tripartite motif-containing protein 22||606559|A, R|||| | ||
11.195|1|30|01|11p15.4|UBQLN3|P|Ubiquilin 3||605473|R|||| | ||
11.196|1|20|09|11p15-p14|DEL11p15p14, C11DELp15p14|P|Chromosome 11p15-p14 deletion syndrome (homozygous)||606528|Ch|contiguous gene deletion syndrome||Chromosome 11p15-p14 deletion syndrome (4)| | ||
11.197|1|12|07|11p15.1|NUCB2, NEFA|P|Nucleobindin 2||608020|REc|||| | ||
11.198|1|9|01|11p13|ELF5, ESE2|P|E74-like factor 5 (epithelium-specific ETS factor 2)||605169|Psh, R|||| | ||
11.199|1|29|03|11p15.1|HPS5, RU2, KIAA1017|P|HPS gene 5 (ruby-eye 2, mouse, homolog of)||607521|REc, H|||Hermansky-Pudlak syndrome 5, 614074 (3)| | |7(ru2)|
11.200|3|29|10|11p14.3|ANO5, TMEM16E, GDD1, LGMD2L|C|Anoctamin 5||608662|REn, H, Fd|||Gnathodiaphyseal dysplasia, 166260 (3); Muscular dystrophy,|limb-girdle, type 2L, 611307 (3); Miyoshi muscular dystrophy 3, 613319 (3) | |7(Tmem16e)|
11.201|11|29|12|11p15.1|OTOG, OTGN, DFNB18B|P|Otogelin||604487|A|||Deafness, autosomal recessive 18B, 614945 (3)| | |7(Otog)|
11.202|2|19|03|11p14.3|SLC17A6, VGLUT2, DNPI|P|Solute carrier family 17 (sodium-dependent inorganic phosphate|cotransporter), member 6|607563|A|||| | ||
11.203|4|10|90|11p14.3-p12|ST2|P|Suppression of tumorigenicity-2||185440|Ch|||| | ||
11.204|9|28|11|11p14.2|BBOX1, BBOX|C|Butyrobetaine-gamma, 2-oxoglutarate dioxygenase 1||603312|R, REc|||| | ||
11.205|12|24|08|11p14.2|SLC5A12, SMCT2|P|Solute carrier family 5 (sodium/glucose cotransporter), member 12||612455|REc|||| | ||
11.206|3|19|09|11p14.2-q12.3|DFNA59|P|Deafness, autosomal dominant 59||612642|Fd|between D22S929 and D11S480||Deafness, autosomal dominant 59 (2)| | ||
11.207|10|6|08|11p14.1|CCDC34|P|Coiled-coil domain-containing protein 34||612324|REc|||| | ||
11.208|10|6|08|11p14-p13|DCDC5, KIAA1493|C|Doublecortin domain-containing protein 5||612321|REc, H|||| | |2(Dcdc5)|
11.209|9|8|08|11p14.1|HSP90AA2, HSPCAL3|C|Heat-shock protein, 90kD, alpha, class A, member 2||140575|REa, A|||| | ||
11.210|7|22|13|11p14.1|LGR4, GPR48, BNMD17|P|Leucine-rich repeat-containing G protein-coupled receptor 4||606666|REc, Psh, R|previously mapped to 5q34-q35.1||{Bone mineral density, low, susceptibility to}, 615311 (3)| | ||
11.211|10|7|08|11p14.1|LIN7C, VELI3, MALS3|P|Lin7, C. elegans, homolog of, C||612332|REc|||| | ||
11.212|3|23|09|11p14.1|MIR610, MIRN610|C|Micro RNA 610||612330|REc|||| | ||
11.213|9|23|08|11p14.1|C11orf46|P|Chromosome 11 open reading frame 46||612295|REc|||| | ||
11.214|9|23|08|11p13|LOC283267|P|LOC283267 gene||612296|REc|||| | ||
11.215|4|20|10|11p14.1-p11.2|SPG41|L|Spastic paraplegia 41||613364|Fd|max lod 2.36; between D11S1324 and D11S1993||?Spastic paraplegia 41, autosomal dominant (2)| | ||
11.216|1|28|13|11p14.2|ANO3, TMEM16C, C11orf25, DYT24|P|Anoctamin 3||610110|REc|||Dystonia 24, 615034 (3)| | ||
11.217|8|19|13|11p14.1|KIF18A|P|Kinesin family member 18A||611271|REc|||| | ||
11.218|8|1|13|11p15.1|SERGEF, DELGEF|P|Secretion-regulating guanine nucleotide exchange factor||606051|REc, Psh|||| | ||
11.219|11|10|10|11p14|TST1|P|Tuberculin skin test reactivity, absence of||613636|Fd|at chr11:26.37M||[Tuberculin skin test reactivity, absence of] (2)| | ||
11.220|1|27|04|11p14.3|LUZP2|P|Leucine zipper protein 2||608178|R|||| | ||
11.221|3|16|10|11p14.1|MPPED2, C11orf8, D11S302E, 239FB|P|Metallophosphoesterase domain-containing protein 2||600911|REn|||| | ||
11.222|12|22|08|11p13|APIP, CGI29, MMRP19|P|APAF1-interacting protein||612491|REc|||| | ||
11.223|5|4|12|11p14.1|BDNF, BULN2, ANON2|C|Brain-derived neurotrophic factor||113505|A, REa, D|homeology with NRF3 on 12p; at p14 boundary||{Memory impairment, susceptibility to} (3); Central hypoventilation|syndrome, congenital, 209880 (3); {Obsessive-compulsive disorder, protection against}, 164230 (3); {Bulimia nervosa, age of onset of weight loss in},|607499 (3); {Anorexia nervosa, susceptibility to}, 610269 (3) |1(Bdnf)|
11.224|12|14|10|11p13|DEL11p13, C11DELp13, WAGR|P|Wilms tumor, aniridia, genitourinary anomalies and mental retardation|syndrome (chromosome 11p13 deletion syndrome)|194072|Ch|deletion of WT1 and PAX6 genes||Wilms tumor, aniridia, genitourinary anomalies and mental retardation|syndrome (4) | ||
11.225|9|23|08|11p13|C11orf41, G2|P|Chromosome 11 open reading frame 41||612297|REc, REn|||| | ||
11.226|11|19|13|11p13|CAPRIN1, M11S1, GPIAP1, GRIP137|P|Cell cycle associated protein 1||601178|REc|||| | ||
11.227|9|21|11|11p13|CAT|C|Catalase||115500|S, D, Fd|cen-CAT-WT1-AN2-pter||Acatalasemia, 614097 (3)| | |2(Cas1)|
11.228|10|7|08|11p13|CCDC73|P|Coiled-coil domain-containing protein 73||612328|REc|||| | ||
11.229|9|23|08|11p13|CD59, MIC11|C|CD59 antigen (p18-20)||107271|REa, A, D|in mouse Ly-6 = multigene complex||Hemolytic anemia, CD59-mediated, with or without immune-mediated|polyneuropathy, 612300 (3) | |15(Ly6)|Yamashina (1990)
11.230|9|23|08|11p13|COMM9|C|COMM domain-containing protein 9||612299|REc, REn|||| | ||
11.231|5|25|13|11p13|CSTF3|P|Cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD||600367|REc|||| | ||
11.232|8|29|03|11p13|DCDC1|P|Doublecortin domain-containing protein 1||608062|REc|||| | ||
11.233|9|23|08|11p13|DEPDC7, TR2|P|DEP domain-containing protein 7||612294|REc, REn|||| | ||
11.234|8|21|07|11p13|DPH4|P|DPH4, S. cerevisiae, homolog of||611072|R, REc|||| | ||
11.235|3|9|10|11p13|ECT, BECTS|P|Centrotemporal epilepsy||117100|Fd|previously assigned to 15q14||Centrotemporal epilepsy (2)| | ||
11.236|10|3|07|11p13|EIF3M, PCID1, B5, GA17|P|Eukaryotic translation initiation factor 3, subunit M||609641|REc|||| | ||
11.237|9|30|02|11p13|ELP4, PAX6NEB|P|Elongation protein 4, S. cerevisiae, homolog of||606985|REc|||| | ||
11.238|9|9|08|11p13|FBXO3, FBX3, FBA|P|F-box only protein 3||609089|REc|||| | |2(Fbxo3)|
11.239|8|29|08|11p13|FJX1|P|Four-jointed box, Drosophila, homolog of, 1||612206|REc|||| | ||
11.240|5|26|05|11p14.1|FSHB|C|Follicle-stimulating hormone, beta polypeptide||136530|D, REa|distal to AN2||Follicle-stimulating hormone deficiency, isolated, 229070 (3)| | |2(Fshb)|
11.241|10|24|00|11p13|HIPK3, PKY, DYRK6|P|Homeodomain-interacting protein kinase-3||604424|A|||| | ||
11.242|10|6|08|11p13|IMMP1L, IMP1|P|Inner mitochondrial membrane peptidase, subunit 1, S. cerevisiae,|homolog of|612323|REc|||| | ||
11.243|12|11|95|11p13|LMO2, RBTNL1, RHOM2, TTG2|P|LIM domain only 2 (rhombotin-like 1)||180385|REa, REc|3rd rhombotin gene not on 11||Leukemia, acute T-cell (2)| | ||
11.244|4|13|05|11p13|MYP7|P|Myopia 7||609256|Fd|||Myopia 7 (2)| | ||
11.245|8|16|12|11p13|PAX6, AN2, MGDA|C|Paired box homeotic gene-6||607108|Ch, Fd|||Aniridia, 106210 (3); Peters anomaly, 604229 (3); Cataract with|late-onset corneal dystrophy, 106210 (3); Keratitis, 148190 (3); Foveal hyperplasia, 136520 (3); Morning glory disc anomaly, 120430 (3); Optic nerve|hypoplasia, 165550 (3); Coloboma, ocular, 120200 (3); Coloboma of optic nerve, 120430 (3); Gillespie syndrome, 206700 (3)|2(Sey)|Ton (1991); Lyons(1992)
11.246|7|20|04|11p13|PDX1|C|Pyruvate dehydrogenase complex, lipoyl-containing component X||608769|A, R, Psh, REc|||Lacticacidemia due to PDX1 deficiency, 245349 (3)| | ||
11.247|1|2|08|11p13|PRRG4, PRGP4, TMG4|P|Proline-rich gamma-carboxyglutamic acid protein 4||611690|REc|||| | ||
11.248|6|9|08|11p12|RAG1|C|Recombination activating gene-1||179615|REa, D|assignment to 14 in error||Severe combined immunodeficiency, B cell-negative, 601457 (3);|Omenn syndrome,  603554 (3); Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889|(3); Combined cellular and humoral immune defects with granulomas, 233650 (3) |2(Rag1)|
11.249|6|9|08|11p12|RAG2|C|Recombination activating gene-2||179616|REa, D|assignment to 14 in error||Severe combined immunodeficiency, B cell-negative, 601457 (3);|Omenn syndrome, 603554 (3); Combined cellular and humoral immune defects with granulomas, 233650 (3)| |2(Rag2)|
11.250|7|13|98|11p13|RCN1|P|Reticulocalbin 1||602735|REc|||| | |2(Rcn1)|
11.251|9|23|08|11p13|TRIM44|P|Tripartite motif-containing protein 44||612298|REc, REn|||| | ||
11.252|8|16|11|11p13|WT1, NPHS4|C|Wilms tumor-1||607102|Ch|clumped: pter-FSHB-AN2-WT1-CAT||Wilms tumor, type 1, 194070 (3); Denys-Drash syndrome, 194080 (3);|Nephrotic syndrome, type 4, 256370 (3); Frasier syndrome, 136680 (3); Meacham syndrome, 608978 (3); Mesothelioma, somatic, 156240 (3)| |2(Wt1)|Jadresic (1991); Pelletier (1991)
11.253|3|13|06|11p13-p12|DFNB51|P|Deafness, autosomal recessive 51||609941|Fd|max lod at D11S4102||Deafness, autosomal recessive 51 (2)| | ||
11.254|4|6|01|11p13-p12|EVR3|P|Exudative vitreoretinopathy 3||605750|Fd|||Exudative vitreoretinopathy-3 (2)| | ||
11.255|1|17|08|11p13-p12|PROTOR2, FLJ14213|P|Protein observed with rictor 2||611728|R, REc|||| | ||
11.256|2|24|97|11p11.2|PSMC3, TBP1|P|Proteasome (prosome, macropain) 26S subunit, ATPase, 3||186852|Psh, A|||| | ||
11.257|1|29|96|11p13|SLC1A2, EAAT2|C|Solute carrier family 1 (glial high affinity glutamate transporter),|member 2|600300|A, REa|||| | |2(Eaat2)|
11.258|12|24|08|11p13-p12|WAGRO, DEL11p14p12|P|Wilms tumor, aniridia, genitourinary anomalies, mental retardation,|and obesity syndrome|612469|Ch|contiguous gene deletion syndrome||WAGRO syndrome (4)| | ||
11.259|7|20|09|11q14.3|FOLH1B, PSMAL, GCP3|C|Folate hydrolase 1B||609020|A, REc|||| | ||
11.260|4|26|10|11p13-q12|CANDF3, CANDN1, FCNC|P|Candidiasis, familial, 3||607644|Fd|between D11S1312 and D11S4191||Candidiasis, familial, 3 (2)| | ||
11.261|11|18|11|11p13-q14.1|MRT23|P|Mental retardation, autosomal recessive 23||614344|Fd|between rs604518 and rs10899421||Mental retardation, autosomal recessive 23 (2)| | ||
11.262|12|23|05|11p12|API5, AAC11|P|Apoptosis inhibitor 5||609774|REc|||| | ||
11.263|1|22|08|11p12|BMND8|P|Bone mineral density QTL 8||611739|Fd|between D11S1392 and D11S4102||{Osteoporosis}, 166710 (2)| | ||
11.264|1|29|01|11p13|EHF, ESE3|P|ETS homologous factor||605439|REa, A|||| | ||
11.265|9|12|08|11p12|LRRC4C, NGL1, KIAA1580|P|Leucine rich repeat containing 4C (netrin-G1 ligand)||608817|R, REc|||| | ||
11.266|3|13|06|11p12|TRAF6|P|TNF receptor-associated factor 6||602355|REc, R|||| | ||
11.267|3|15|92|11p11.2|CHRM4|C|Cholinergic receptor, muscarinic, 4||118495|A, REa, Fd|||| | ||
11.268|10|25|11|11p11.2|LRP4, MEGF7, CLSS, SOST2|P|Low density lipoprotein receptor-related protein 4||604270|R|||Cenani-Lenz syndactyly syndrome, 212780 (3); Sclerosteosis 2,|614305 (3) | ||
11.269|3|1|00|11p11.2|MAPK8IP1, IB1|P|Mitogen-activated protein kinase 8-interacting protein 1||604641|R, A|||{Diabetes mellitus, noninsulin-dependent}, 125853 (3)| | ||
11.270|10|25|12|11p11.2|PEX16, PBD8A, PBD8B|P|Peroxisome biogenesis factor 16||603360|R, H|||Peroxisome biogenesis disorder 8A, (Zellweger), 614876 (3);|Peroxisome biogenesis disorder 8B, 614877 (3) | |2(Pex16)|
11.271|12|13|96|11p11.2|DDB2|P|Damage-specific DNA binding protein 2, 48kD||600811|A|||Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)| | ||
11.272|1|27|04|11p11.2|EXT2|C|Exostosin 2||608210|Fd, D|||Exostoses, multiple, type 2, 133701 (3)| | |2(Ext2)|
11.273|4|17|07|11p12-p11|PSNP3|P|Supranuclear palsy, progressive, 3||610898|Fd|||Supranuclear palsy, progressive, 3 (2)| | ||
11.274|3|14|07|11p11.2|ARHGAP1, RHOGAP1, CDC42GAP|P|RHO GTPase-activating protein 1||602732|R, REc|||| | ||
11.275|10|2|91|11q24.2|ACRV1|P|Acrosomal vesicle protein-1||102525|REa|||| | ||
11.276|4|20|11|11p11.2|ACP2|C|Acid phosphatase 2, lysosomal||171650|S, REa|||?Lysosomal acid phosphatase deficiency, 200950 (1)| | |2(Acp2)|
11.277|11|19|13|11p11.2|ALX4, PFM2, FPP, FND2, CRS5|P|Aristaless-like 4, mouse, homolog of||605420|REc, Fd|||Parietal foramina 2, 609597 (3); Frontonasal dysplasia 2, 613451 (3);|{Craniosynostosis 5, susceptibility to}, 615529 (3) | ||
11.278|9|9|10|11p11.2|AMBRA1, KIAA1736|P|Activating molecule in beclin 1-regulated autophagy||611359|R, REc|||| | ||
11.279|3|14|13|11p11.2|ATG13, KIAA0652, PARATARG8|C|Autophagy 13, S. cerevisiae, homolog of||615088|REc, R|||| | ||
11.280|12|10|12|11p11.2|C1QTNF4, CTRP4|P|C1q- and tumor necrosis factor-related protein 4||614911|REc, R|||| | ||
11.281|1|20|06|11p11.2|CD82, SAR2, KAI1, ST6|P|CD82 antigen||600623|M|||{Prostate cancer, susceptibility to}, 176807 (2)| | ||
11.282|2|23|08|11p11.2|CKAP5, CHTOG, MSPS, KIAA0097|P|Cytoskeleton-associated protein 5||611142|REa, REc|||| | ||
11.283|6|4|13|11p11.2|FNBP4, FBP30, KIAA1014|P|Formin-binding protein 4||615265|REc|||| | ||
11.284|10|11|00|11p11.12|FOLH1, FOLH, PSM, PSMA|C|Folate hydrolase 1 (prostate-specific membrane antigen)||600934|A, REc|?pseudogene on 11q14||| | ||
11.285|11|15|05|11p11.2|GYLTL1B, LARGE2|P|Glycosyltransferase-like 1B||609709|REc|||| | ||
11.286|3|7|13|11p11.2|HARBI1|C|Harbinger transposase-derived gene 1||615086|REc, Ch|||| | ||
11.287|5|12|99|11p11.2|MADD, DENN|P|MAP kinase-activating death domain (differentially expressed in|normal and neoplastic cells)|603584|A|||| | ||
11.288|6|13|12|17p12-p11|NCOR1|P|Nuclear receptor corepressor 1||600849|REc|||| | ||
11.289|9|14|94|11p11.2|MDK, NEGF2|C|Midkine (neurite growth-promoting factor 2)||162096|REa, A|||| | |2(Mdk)|
11.290|9|9|13|11p11.2|MYBPC3, CMH4, CMD1MM, LVNC10|C|Myosin-binding protein C, cardiac||600958|A, Fd|||Cardiomyopathy, familial hypertrophic, 4, 115197 (3); Cardiomyopathy,|dilated, 1MM, 615396 (3); Left ventricular noncompaction 10, 615396 (3) | ||
11.291|9|28|10|11p11.2|PHF21A, BHC80, KIAA1696|P|PHD finger protein 21A||608325|R, REc|||| | ||
11.292|5|13|10|11p11.2|PSS|C|Potocki-Shaffer syndrome||601224|Ch|contiguous gene syndrome caused by deletion of 11p11.2||Potocki-Shaffer syndrome (4)| | ||
11.293|6|27|02|11p11.2|PTPRJ, DEP1|P|Protein tyrosine phosphatase, receptor type, J polypeptide||600925|H, A|||Colon cancer, somatic, 114500 (3)| | |2(Ptprj)|
11.294|2|10|05|11p11.2|SLC35C1, FUCT1, CDG2C|C|Solute carrier family 35, member C1|(GDP-Fucose transporter 1)|605881|REc|||Congenital disorder of glycosylation, type IIc, 266265 (3)| | ||
11.295|10|29|08|11p11.2|SLC39A13|P|Solute carrier family 39 (zinc transporter), member 13||608735|REc|||Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 (3)| | ||
11.296|2|10|00|11p11.2|SPI1, SFPI1|P|Oncogene SPI1||165170|REa, A|||| | ||
11.297|9|19|88|11p11.2|TYRL|P|Tyrosinase-like||191270|REa, A|||| | ||
11.298|12|4|08|11p11.2|ARFGAP2, ZNF289|P|ADP-ribosylation factor GTPase-activating protein 2||606908|R, REc|||| | ||
11.299|9|3|04|11p11.2|CHST1, KSGAL6ST|C|Carbohydrate sulfotransferase-1||603797|A, R|||| | ||
11.300|4|15|08|11p11.2|RAPSN, CMS1D, CMS1E|P|Receptor-associated protein of the synapse, 43kD||601592|REa|||Myasthenic syndrome, congenital, associated with acetylcholine|receptor deficiency, 608931 (3); Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency, 608931 (3);|Fetal akinesia deformation sequence, 208150 (3) ||
11.301|3|8|07|11q12.1|SLC43A1, LAT3, POV1|P|Solute carrier family 43 (L-type amino acid transporter), member 1||603733|A|||| | ||
11.302|11|30|06|11p11.2|ALKBH3, PCA1, DEPC1, ABH3|C|AlkB, E. coli, homolog of, 3||610603|REc|||| | ||
11.303|10|5|11|11p11.12|OR4C46|P|Olfactory receptor, family 4, subfamily C, member 46||614273|REc|||| | ||
11.304|7|20|01|11q14.3|RNF18|P|RING finger protein-18||606124|R|||| | ||
11.305|12|17|12|11p11.2|NDUFS3|C|NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kD||603846|REa, R|||Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3);|Mitochondrial complex I deficiency, 252010 (3) | ||
11.306|1|31|12|11p11.2|ACCS, ACS, PHACS|P|1-aminocyclopropane-1-carboxylate synthase||608405|REc|||| | ||
11.307|8|2|13|11p11.2|CELF1, CUGBP1, NAB50, BRUNOL2, CUGBP|P|CUGbp and ELAV-like family, member 1||601074|REc|||| | ||
11.308|12|27|01|11p11.2|PACSIN3|P|Protein kinase C and casein kinase substrate in neurons 3||606513|R|||| | ||
11.309|5|4|12|11p11.2|F2, THPH1, RPRGL2|C|Coagulation factor II (thrombin)||176930|REa, A|||Hypoprothrombinemia, 613679 (3); Dysprothrombinemia, 613679 (3);|Thrombophilia due to thrombin defect, 188050 (3); {Stroke, ischemic, susceptibility to}, 601367 (3); {Pregnancy loss, recurrent, susceptibility|to, 2}, 614390 (3) |2(Cf2)|
11.310|12|15|10|11p15.5|CD81, TAPA1, CVID6|P|CD81 antigen (target of antiproliferative antibody-1)||186845|REa|||Immunodeficiency, common variable, 6, 613496 (3)| | |7(Tapa1)|
11.311|3|10|00|11p|HYPLIP2|P|Hyperlipidemia, combined, 2||604499|Fd|||Hyperlipidemia, combined, 2 (2)| | ||
11.312|12|15|98|11p|NNO1|P|Nanophthalmos 1||600165|Fd|||Nanophthalmos-1 (2)| | ||
11.313|8|9|99|11p15.1|RPS13|P|Ribosomal protein S13||180476|Psh, R|||| | ||
11.314|4|4|02|11q12.1|PRG2, MBP|P|Proteoglycan 2||605601|R, A|||| | ||
11.315|4|4|02|11q12.1|PRG3, MBPH|P|Proteoglycan 3||606814|A|||| | ||
11.316|2|11|93|11q13.2|ADRBK1|C|Adrenergic, beta, receptor kinase-1||109635|REa|||| | |19(Adrbk1)|
11.317|9|16|03|11q14.2|ME3|P|Malic enzyme 3||604626|R|||| | ||
11.318|9|4|98|11q12.1|CTNND1, CTNND|P|Catenin (cadherin-associated protein), delta 1||601045|A|||| | |2(Catns)|
11.319|8|30|07|11q12.2|VWC1, URG11|C|von Willebrand factor C and EGF domain-containing protein||611115|R, REn|||| | ||
11.320|9|12|91|11q12.1|TCN1, TC1|P|Transcobalamin I||189905|A|||| | ||
11.321|1|24|09|11q12.1|C1NH, HAE1, HAE2, SERPING1|C|Complement component-1 inhibitor||606860|REa, A|||Angioedema, hereditary, types I and II, 106100 (3); Complement|component 4, partial deficiency of, 120790 (3) | |2(C1nh)|
11.322|5|24|13|11q12.2|CCDC86, CYCLON|P|Coiled-coil domain-containing protein 86||611293|REc|||| | |19(Ccdc86)|
11.323|1|9|14|11q12.1|APLNR, AGTRL1, APJ|P|Apelin receptor||600052|Psh, A|||| | ||
11.324|11|5|97|11q13.1|ESRRA, ESRL1|P|Estrogen-related receptor, alpha||601998|A|||| | |19(Estrra)|
11.325|3|18|95|11q12.2|FEN1|P|Flap structure-specific endonuclease 1||600393|A, R|||| | |19(Fen1)|
11.326|6|10|09|11q13.1|KIND3, URP2, MIG2B, FERMT3|C|Kindlin 3||607901|REc|||Leukocyte adhesion deficiency, type III, 612840 (3)| | ||
11.327|11|3|09|11q13.1|LTBP3, LTBP2, STHAG6|C|Latent transforming growth factor beta binding protein-3||602090|Psh, A, REc|||Tooth agenesis, selective, 6, 613097 (3)| | |19(Ltbp2)|
11.328|4|30|09|11q12.1|MIR130A, MIRN130A|P|Micro RNA 130A||610175|REc|||| | ||
11.329|1|2|08|11q13.1|NAALADL1, I100|P|N-acetylated alpha-linked acidic dipeptidase-like 1||602640|A|||| | ||
11.330|7|14|98|11q12.1|P2RX3, P2X3|P|Purinergic receptor P2X, ligand-gated ion channel, 3||600843|A|||| | |2(P2rx3)|
11.331|11|2|04|11q13.4|P4HA3|P|Procollagen-proline, 2-oxoglutarate-4-dioxygenase, alpha subunit,|isoform 3|608987|REc|||| | ||
11.332|5|24|13|11q21|PIWIL4, HIWI2, MIWI2|P|PIWI-like 4||610315|REc|||| | ||
11.333|4|11|11|11q12|SCA20, DUP11q12, C11DUPq12|P|Spinocerebellar ataxia 20 (chromosome 11q12 duplication syndrome,|260kb)|608687|Fd|contiguous gene duplication syndrome||Spinocerebellar ataxia 20 (4)| | ||
11.334|2|2|01|11q12.1|SSRP1, FACT|P|Structure-specific recognition protein 1||604328|REa|||| | ||
11.335|7|12|02|11q12.1|TNKS1BP1, TAB182, KIAA1741|P|Tankyrase 1-binding protein 1, 182kD||607104|REc|||| | ||
11.336|2|1|01|11q12.1|UBE2L6, UBCH8|P|Ubiquitin-conjugating enzyme E2L 6||603890|A|||| | ||
11.337|8|6|97|11q12.3|AHNAK|P|AHNAK nucleoprotein (desmoyokin)||103390|REa, A, REc|||| | ||
11.338|8|24|11|11q12.3|B3GAT3, GLCATI|P|Beta-1,3-glucuronyltransferase 3||606374|A|pseudogene on chr.3||Multiple joint dislocations, short stature, craniofacial dysmorphism,|and congenital heart defects, 245600 (3) | ||
11.339|8|29|02|11q13.1|CDC42EP2, CEP2, BORG1|P|CDC42 effector protein 2||606132|REc|||| | ||
11.340|12|15|13|11q12.2|DDB1|P|Damage-specific DNA binding protein 1, 127kD||600045|A, H|||| | |19(Ddb1)|
11.341|2|3|05|11q13.4|DHCR7, SLOS|C|Delta-7-dehydrocholesterol reductase||602858|R|||Smith-Lemli-Opitz syndrome, 270400 (3)| | ||
11.342|1|29|01|11q13.1|FLRT1|P|Fibronectin-like domain-containing leucine-rich transmembrane|protein-1|604806|A|||| | ||
11.343|11|19|13|11q12.3|FTH1, FTHL6, HFE5|C|Ferritin, heavy polypeptide 1||134770|REa, H, REn, R|mutation identified in 1 family||?Hemochromatosis, type 5, 615517 (3)| | |19(Fth)|
11.344|1|17|08|11q13.2|KLC2|P|Kinesin, light chain 2||611729|REc, H|||| | |19(Klc2)|
11.345|5|21|07|11q13.1|MARK2, EMK1|P|MAP/microtubule affinity-regulating kinase 2||600526|A, REa, REn|||| | |19(Emk1)|
11.346|11|29|01|11q12.1|MS4A3, HTM4, CD20L|P|Membrane-spanning 4-domains, subfamily A, member 3||606498|A|||| | ||
11.347|12|27|01|11q12.2|MS4A4A, MS4A4|P|Membrane-spanning 4-domains, subfamily A, member 4A||606547|REc|||| | ||
11.348|11|29|01|11q12.2|MS4A5, TETM4, CD20L2|P|Membrane-spanning 4-domains, subfamily A, member 5||606499|A, R|||| | ||
11.349|12|27|01|11q12.2|MS4A6A, MS4A6|P|Membrane-spanning 4-domains, subfamily A, member 6A||606548|REc|||| | ||
11.350|11|27|01|11q12.2|MS4A7, CFFM4|P|Membrane-spanning 4-domains, subfamily A, member 7||606502|REc|||| | ||
11.351|12|27|01|11q12.2|MS4A8B|P|Membrane-spanning 4-domains, subfamily A, member 8B||606549|REc|||| | ||
11.352|12|27|01|11q12.2|MS4A12|P|Membrane-spanning 4-domains, subfamily A, member 12||606550|REc|||| | ||
11.353|12|21|03|11q12.3|NXF1, TAP, MEX67|C|Nuclear RNA export factor 1||602647|REc|||| | ||
11.354|11|15|95|11q13.1|RELA, NFKB3|C|v-rel avian reticuloendotheliosis viral oncogene homolog A (nuclear|factor of kappa light polypeptide gene enhancer in B-cells 3 (p65))|164014|A, REa|||| | ||
11.355|12|7|03|11q12.2|C11orf9, KIAA0954|P|Chromosome 11 open reading frame 9||608329|REc|||| | ||
11.356|12|11|02|11q13.2|DPP3|P|Dipeptidyl peptidase III||606818|A|||| | ||
11.357|5|27|09|11q12.2|FADS1|P|Fatty acid desaturase 1||606148|REc|||| | ||
11.358|5|27|09|11q12.2|FADS2|P|Fatty acid desaturase 2||606149|REc|||| | ||
11.359|5|27|09|11q12.2|FADS3|P|Fatty acid desaturase 3||606150|REc|||| | ||
11.360|2|26|08|11q12.1|MRPL16|P|Mitochondrial ribosomal protein L16||611829|R|||| | ||
11.361|1|27|04|11q12.2|MS4A4E|P|Membrane-spanning 4-domains, subfamily A, member 4E||608401|REc|||| | ||
11.362|1|27|04|11q12.2|MS4A6E|P|Membrane-spanning 4-domains, subfamily A, member 6E||608402|REc|||| | ||
11.363|1|27|04|11q12.2|MS4A10|P|Membrane-spanning 4-domains, subfamily A, member 10||608403|REc|||| | ||
11.364|6|6|00|11q12.3|MTA1L1|P|Metastasis-associated 1-like 1||603947|A|||| | ||
11.365|7|20|09|11q12-q13.1|PURAQTL1|P|Polyunsaturated fatty acids plasma level QTL1||612795|Fd|associated with rs174537||[Polyunsaturated fatty acids plasma level QTL1] (2)| | ||
11.366|12|14|00|11q12.2|GPR44|P|G protein-coupled receptor-44||604837|A|||| | ||
11.367|3|6|01|11q14.1|RAB30|P|Ras-associated protein RAB30||605693|REa, REc|||| | ||
11.368|7|23|13|11q12.1|FAM111A, KIAA1895, KCS2, GCLEB|P|Family with sequence similarity 111, member A||615292|REc|||Kenny-Caffey syndrome, type 2, 127000 (3); Gracile bone dysplasia,|602361 (3) | ||
11.369|1|6|14|11q12.1|FAM111B|P|Family with sequence similarity 111, member B||615584|REc|||| | ||
11.370|8|21|12|11q12.1|GLYAT, ACGNAT, CAT|C|Glycine-N-acyltransferase||607424|R, REc|||| | ||
11.371|8|21|12|11q12.1|GLYATL1|P|Glycine-N-acyltransferase-like 1||614761|REc|||| | ||
11.372|8|21|12|11q12.1|GLYATL2|P|Glycine N-acyltransferase-like 2||614762|REc|||| | ||
11.373|5|6|13|11q12.1|LRRC55|P|Leucine-rich repeat-containing protein 55||615213|REc|||| | ||
11.374|11|7|08|11q12.1|MED19|P|Mediator complex subunit 19||612385|REc|||| | ||
11.375|8|19|13|11q12.1|MPEG1, MPG1|P|Macrophage expressed gene 1||610390|R, REc|||| | ||
11.376|2|19|10|11p11.2|MTCH2|P|Mitochondrial carrier homolog 2||613221|REc|||| | ||
11.377|8|8|13|11q12.1|OR5F1|P|Olfactory receptor, family 5, subfamily F, member 1||608492|REc, A|||| | ||
11.378|8|8|13|11q12.1|OR5I1, OLF1|P|Olfactory receptor, family 5, subfamily I, member 1||608496|REc, Psh|||| | ||
11.379|5|7|03|11q12.1|OSBP|C|Oxysterol-binding protein||167040|REa, R|||| | |19(Osbp)|
11.380|5|29|12|11q12.1|PATL1, PAT1B|P|Protein associated with topoisomerase II, S. cerevisiae, homolog of, 1||614660|REc|||| | ||
11.381|5|24|13|11q12.1|RTN4RL2, NGRH1, NGR2|P|Reticulon 4 receptor-like 2||610462|REc|||| | ||
11.382|12|14|10|11q12.1|SMTNL1, CHASM|P|Smoothelin-like 1||613664|REc|||| | ||
11.383|1|21|11|11q12.1|STX3, STX3A|P|Syntaxin 3||600876|REc|||| | ||
11.384|12|28|08|11q12.1|YPEL4|P|Yippee-like 4||609725|REc|||| | |2(Ypel4)|
11.385|4|27|12|11q12.1|ZDHHC5, DHHC5, ZNF375, KIAA1748|P|Zinc finger DHHC domain-containing protein 5||614586|REc|||| | ||
11.386|12|4|02|11q12.1|TIMM10, TIM10A, TIM10|P|Translocase of inner mitochondrial membrane 10, yeast, homolog of||602251|A, R|||| | ||
11.387|10|23|87|11q12.1-q13.5|FNL2|P|Fibronectin-like-2||135610|S, A|||| | ||
11.388|7|13|93|11q12.1|CNTF|C|Ciliary neurotrophic factor||118945|REa, A|||| | |19(Cntf)|
11.389|9|8|11|11q12.2|DAGLA, KIAA0659|C|Diacylglycerol lipase, alpha||614015|REc, R|||| | ||
11.390|2|23|09|11q12.2|PRPF19, PRP19, PSO4, NMP200|P|Precursor mRNA-processing factor 19, S. cerevisiae, homolog of||608330|R, REc|||| | ||
11.391|2|9|12|11q12.2|TMEM138, JBTS16|P|Transmembrane protein 138||614459|REc|||Joubert syndrome 16, 614465 (3)| | ||
11.392|2|24|12|11q12.2|TMEM216, JBTS2, CORS2, MKS2|C|Transmembrane protein 216||613277|REc, Fd|||Joubert syndrome 2, 608091 (3); Meckel syndrome 2, 603194 (3)| | ||
11.393|6|9|06|11q12.2|VPS37C|P|Vacuolar protein sorting 37, yeast, homolog of, C||610038|R, REc|||| | ||
11.394|7|19|10|11q12.2|ZP1|P|Zona pellucida glycoprotein 1||195000|REc|||| | ||
11.395|9|18|08|11q12.3|EEF1G, EF1G|P|Eukaryotic translation elongation factor 1, gamma||130593|REc|||| | ||
11.396|4|7|11|11q12.3|HRASLS2|C|HRAS-like suppressor 2||613866|REc|||| | ||
11.397|2|22|13|11q12.3|SCGB2A1, MGB2, LPNC|P|Secretoglobin, family 2A, member 1 (mammaglobin 2)||604398|A, REc|||| | ||
11.398|2|22|13|11q12.3|SCGB1D1, LPNA|P|Secretoglobin, family 1D, member 1||615060|REc|previously mapped to 15q12-q13||| | ||
11.399|2|22|13|11q12.3|SCGB1D2, LPNB|P|Secretoglobin, family 1D, member 2||615061|REc|previously mapped to 10q23||| | ||
11.400|2|22|13|11q12.3|SCGB1D4, IIS|P|Secretoglobin, family 1D, member 4||615062|REc|||| | ||
11.401|1|2|08|11q12.3|SLC22A24|P|Solute carrier family 22, member 24||611698|REc|||| | |19(Slc22a24)|
11.402|1|21|11|11q12.3|STX5, STX5A|P|Syntaxin 5||603189|REc|||| | ||
11.403|3|8|07|11q12.3|UST6|P|Organic anion transporter UST6||610792|REc|||| | ||
11.404|3|23|02|11q12.3|MGB1, SCGB2A2|P|Mammaglobin 1 (secretoglobin, family 2A, member 2)||605562|A, R|||| | ||
11.405|4|6|11|11q12.3|PLA2G16, HRASLS3, HRSL3, HREV107|C|Phospholipase A2, group XVI||613867|REc|||| | ||
11.406|2|11|11|11q12.3|SCGB1A1, UGB, CC10, CCSP, SCGB1A1|C|Secretoglobin, family 1A, member 1 (uteroglobin)||192020|REa, Fd, REc, A|||{Asthma, susceptibility to}, 600807 (3)| | ||
11.407|11|24|08|11q13.3|ANO1, TMEM16A, FLJ10261|P|Anoctamin 1, calcium activated chloride channel||610108|REc|||| | |7(Tmem16a)|
11.408|8|26|98|11q13.1|ARL2|P|ADP=ribosylation factor-like 2||601175|REc|||| | ||
11.409|12|11|95|11q13.4|ARRB1|C|Arrestin, beta 1||107940|A|||| | ||
11.410|3|5|03|11q13.2|BBS1|C|BBS1 gene||209901|Fd|||Bardet-Biedl syndrome 1, 209900 (3)| | ||
11.411|6|8|07|11q12.3|BSCL2, SPG17, HMN5|C|Seipin||606158|Fd|||Lipodystrophy, congenital generalized, type 2, 269700 (3); Silver|spastic paraplegia syndrome, 270685 (3); Neuropathy, distal hereditary motor, type VA, 600794 (3)| ||
11.412|3|29|07|11q13.2|C11orf24|P|Chromosome 11 open reading frame 24||610880|REc|||| | ||
11.413|3|29|99|11q13.1|CAPN1|C|Calpain, large polypeptide L1||114220|REb|||| | ||
11.414|4|20|10|11q13.2|CARNS1, ATPGD1, KIAA1394|P|Carnosine synthase 1||613368|REc|||| | |19(Carns1)|
11.415|1|25|12|11q13.3|CCND1, PRAD1, BCL1|C|Cyclin D1||168461|REn, R, REa, A|pseudogene on 11q13||{Colorectal cancer, susceptibility to}, 114500 (3);|{von Hippel-Lindau disease, modifier of}, 193300 (3) | ||
11.416|5|25|00|11q13.2|CCS|P|Copper chaperone for superoxide dismutase||603864|A|||| | |9(Ccs)|
11.417|6|8|89|11q12.2|CD5, LEU1|C|CD5 antigen (p56-62)||153340|REa, A|||| | |19(Ly1)|
11.418|12|7|07|11q13.2|CD248, TEM1|P|CD248 antigen||606064|REa, REc|||| | ||
11.419|9|8|11|11q13.1|CDC42BPG, MRCKG|P|CDC42-binding protein kinase, gamma||613991|REc|||| | ||
11.420|1|8|97|11q13.1|CFL1|C|Cofilin 1 (non-muscle)||601442|REn, A, Psh, R|||| | |19(Cfl1)|
11.421|8|6|97|11q12.3|CHRM1|P|Cholinergic receptor, muscarinic, 1||118510|REa, A, REn|||| | ||
11.422|7|13|93|11q13.1|COX8|C|Cytochrome c oxidase, subunit VIII||123870|A, R, REn|||| | ||
11.423|10|8|98|11q13.3|CPT1A|C|Carnitine palmitoyltransferase I, liver||600528|Psh, A|||CPT deficiency, hepatic, type IA, 255120 (3)| | ||
11.424|8|5|97|11q13.1|CST6|P|Cystatin-M||601891|A|||| | ||
11.425|9|24|08|11q13.3|CTTN, EMS1|P|Cortactin||164765|RE|amplified in breast cancer and squamous cell cancer||| | ||
11.426|3|12|01|11q13.1|DANJC4, HSPF2|P|DnaJ, E. coli, homolog of, subfamily C, member 4|(heat-shock 40kD protein 2)|604189|REc|||| | ||
11.427|12|18|08|11q13.1|DPF2, REQ, UBID4|C|D4, zinc, and double PHD fingers family, member 2||601671|A|||| | |6(Req)|
11.428|1|30|12|11q13.1|EFEMP2, FBLN4, UPH1, ARCL1B|P|EGF-containing fibulin-like extracellular matrix protein 2|(fibulin 4)|604633|REc|||Cutis laxa, autosomal recessive, type IB, 614437 (3)| | ||
11.429|5|2|01|11q13.1|EHD1|C|EH domain-containing 1 protein||605888|REc, R|||| | |19(Ehd1)|
11.430|9|12|93|11q13.1|FAU|C|Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously|expressed (fox derived)|134690|A, REa, REc, R|||| | |19(Fau)|
11.431|3|8|92|11q13.3|FGF4, HSTF1|C|Fibroblast growth factor-4 (heparin secretory transforming protein-1;|Kaposi sarcoma oncogene)|164980|A, REa, RE|coamplified with FGF3 in melanoma||| | |7(Hstf1)|
11.432|1|22|07|11q13.3|FGF3, INT2|C|Fibroblast growth factor-3 (oncogene INT2)||164950|REa, A, RE|35kb 5' to HST1||Deafness, congenital with inner ear agenesis, microtia, and|microdontia, 610706 (3) | |7(Int2)|
11.433|12|28|93|11q13.1|FOSL1|P|FOS-like antigen-1||136515|REl|||| | ||
11.434|2|7|07|11q13.1|GAL3ST3, GAL3ST2|P|Galactose-3-O-sulfotransferase 3||608234|REc|||| | ||
11.435|5|31|05|11q12.1|GIF, IF|C|Gastric intrinsic factor||609342|REa, H|||Intrinsic factor deficiency, 261000 (3)| | |19(Gif)|
11.436|7|6|99|11q13.2|GSTP1, GST3|C|Glutathione S-transferase pi||134660|S, A, REa, R, Fd|formerly called GST1||| | |19(Gst3)|
11.437|3|15|04|11q14.1|HBXAP, RSF1|C|Hepatitis B virus X-associated protein||608522|A, REc|||| | ||
11.438|4|23|08|11q13|HPC14|P|Prostate cancer, hereditary, 14||611958|Fd|associated with rs7931342||{Prostate cancer, hereditary, 14} (2)| | ||
11.439|12|9|98|11q13|IDDM4|C|Insulin-dependent diabetes mellitus-4||600319|Fd|||{Diabetes mellitus, insulin-dependent, 4} (2)| | ||
11.440|12|8|09|11q13.1|KAT5, HTATIP, TIP60, ESA1, PLIP|P|K(lysine) acetyltransferase 5||601409|R, REc|||| | ||
11.441|3|7|01|11q13.1|KCNK4, TRAAK|P|Potassium channel, subfamily K, member 4||605720|R|||| | ||
11.442|6|6|00|11q13.1|KCNK7|P|Potassium channel, subfamily K, member 7||603940|R|||| | ||
11.443|4|18|05|11q12.3|LGALS12|P|Lectin, galactoside-binding, soluble, 12||606096|REc|||| | ||
11.444|2|9|11|11q13.1|MEN1|C|Menin||613733|Fd, D|linked distal to PYGM||Multiple endocrine neoplasia 1, 131100 (3); Carcinoid tumor of lung|(3); Parathyroid adenoma, somatic (3); Lipoma, somatic (3); Angiofibroma, somatic (3); Adrenal adenoma, somatic (3)| |19(Men1)|
11.445|2|22|11|11q13.4|MIR326, MIRN326|P|Micro RNA 326||613755|REc|||| | ||
11.446|4|29|02|11q13.1|MRPL49, NOF1|P|Mitochondrial ribosomal protein L49||606866|REc|||| | |19(Mrpl49)|
11.447|9|27|01|11q12.1|MS4A2, FCER1B|C|Membrane-spanning 4-domains, subfamily A, member 2|(Fc fragment of IgE, high affinity I, receptor for, beta polypeptide)|147138|Fd, REn|||{Atopy, susceptibility to}, 147050 (3)| | ||
11.448|12|15|10|11q12.2|MS4A1, CD20, CVID5|C|Membrane-spanning 4-domains, subfamily A, member 1||112210|REa, A, R|||Immunodeficiency, common variable, 5, 613495 (3)| | |19(Ly44)|
11.449|1|7|02|11q13.1|MUS81|P|Mus81, S. cerevisiae, homolog of||606591|A, REc|||| | ||
11.450|12|17|12|11q13.2|NDUFS8|C|NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kD (NADH-coenzyme Q|reductase)|602141|A, REc, R|previously assigned to 3q28||Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)| | ||
11.451|12|14|11|11q13.2|NDUFV1, UQOR1|P|NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kD||161015|REa, A|||Mitochondrial complex I deficiency, 252010 (3)| | ||
11.452|8|29|08|11q13.2|NPAS4, NXF|P|Neuronal PAS domain protein 4||608554|REc|||| | ||
11.453|6|6|00|11q13.1|NRXN2|P|Neurexin 2||600566|REc|||| | ||
11.454|9|23|97|11q13.4|NUMA1|C|Nuclear mitotic apparatus protein-1||164009|A, Ch|||Leukemia, acute promyelocytic, NUMA/RARA type (3)| | ||
11.455|12|7|07|11q13.3|ORAOV1, TAOS1|P|Oral cancer overexpressed gene 1||607224|REc, H|||| | |7(Oraov1)|
11.456|5|4|12|11q13|OTDD, DEL11q13, C11DELq13|P|Otodental dysplasia (chromosome 11q13 deletion syndrome)||166750|Ch|between rs9666584 and rs41408348||Otodental dysplasia chromsome deletion syndrome (4)| | ||
11.457|7|15|99|11q13.1|OVOL1|P|Ovo, Drosophila, homolog-like, 1||602313|H, Psh, A|||| | |19(Ovol1)|
11.458|10|23|87|11q13|PGA3|C|Pepsinogen A3||169710|REa, RE, A|||| | ||
11.459|10|23|87|11q12.2|PGA4|C|Pepsinogen A4||169720|REa, RE, A|||| | ||
11.460|10|23|87|11q12.2|PGA5|C|Pepsinogen A5||169730|REa, A|pter-5'HRAS--5'INS--cen||| | ||
11.461|1|7|95|11q13.1|PLCB3|C|Phospholipase C, beta 3 (phosphatidylinositol-specific)||600230|REn, Ch|within 900kb of MEN1||| | |19(Plcb3)|
11.462|10|13|09|11q13.2|POLD4, POLDS, P12|P|Polymerase, DNA-directed, delta 4||611525|R, REc|||| | ||
11.463|12|18|08|11q13.2|RBM14, PSP2, COAA, SIP|P|RNA-binding motif protein 14||612409|REc|||| | ||
11.464|5|4|09|11q13.1|SCYL1, NTKL|P|SCY1-like 1||607982|REc|||| | ||
11.465|1|26|12|11q13.2|UNC93B1, IIAE1|C|UNC93, C. elegans, homolog of, B1||608204|A|||Herpes simplex encephalitis, susceptibility to, 1, 610551 (3)| | ||
11.466|3|25|03|11q13.4|PLEKHB1, PHR1, KPL1|P|Pleckstrin homology domain-containing protein, family B, member 1||607651|A, R, H|||| | |7(Tyr)|
11.467|7|17|01|11q13.1|PPP1R14B, PLCB3N, PNG|P|Protein phosphatase 1, regulatory subunit 14B||601140|REc|||| | ||
11.468|8|20|98|11q13.2|PPP1CA, PPP1A|C|Protein phosphatase-1, catalytic subunit, alpha isoform||176875|REa, A, R|||| | |7(Ppp1a)|
11.469|10|19|97|11q13.1|PPP2R5B|C|Protein phosphatase-2, regulatory subunit B (B56), beta isoform||601644|A, REc|||| | ||
11.470|1|7|02|11q13.1|PRDX5, AOEB166|P|Peroxiredoxin 5||606583|R|||| | ||
11.471|3|9|04|11q13.1|PYGM|C|Phosphorylase, glycogen, muscle||608455|REb, Fd, REn|||McArdle disease, 232600 (3)| | |19(Pygm)|
11.472|9|20|99|11q13.1|MAP4K2, RAB8IP, GCK|P|Mitogen-activating protein kinase kinase kinase kinase 2|(RAB8-interacting protein; germinal center kinase)|603166|REc|||| | ||
11.473|1|24|01|11q13.1|RASGRP2, CDC25L|P|Ras guanyl nucleotide-releasing protein 2||605577|REc|||| | ||
11.474|6|25|99|11q13.2|RBM4. LARK|P|RNA-binding motif protein-4 (lark, Drosophila, homolog of)||602571|A, R|||| | ||
11.475|12|18|13|11q13.2|RCE1|P|Ras converting CAAX endopeptidase 1||605385|R, REc|||| | ||
11.476|7|12|13|11q12.3|ROM1, ROSP1, RP7|P|Rod outer segment membrane protein-1||180721|REa, A|digenic RP with RDS||Retinitis pigmentosa 7, digenic, 608133 (3)| | |19(Rosp1)|
11.477|10|22|99|11q13.1|RTN3, NSPL2|C|Reticulon 3||604249|REa, R, REc|pseudogene on chr.4||| | ||
11.478|3|29|07|11q13.2|SAPS3, PP6R3, C11orf23, KIAA1558|C|SAPS domain family, member 3||610879|Psh, REc|||| | ||
11.479|9|17|92|11q13|SEA|C|Oncogene SEA (S13 avian erythroblastosis)||165110|REa, A, R|||| | |19(Sea)|
11.480|1|28|01|11q13.1|SF1, ZNF162, D11S636, ZFM1|P|Splicing factor 1 (zinc finger protein-162)||601516|REf, REa, A|||| | ||
11.481|5|30|00|11q12.3|SLC3A2, MDU1, NACAE|C|Solute carrier family 3 (activators of dibasic and neutral amino acid|transport), member 2|158070|S, H|prob. 11q13||| | |19(Mdu1)|
11.482|7|12|02|11q13.1|SLC22A11, OAT4|P|Solute carrier family 22 (organic anion/cation transporter), member 11||607097|REc|||| | ||
11.483|7|12|02|11q13.1|SLC22A12, OAT4L, URAT1|P|Solute carrier family 22 (urate transporter), member 12||607096|REc|||Hypouricemia, renal, 220150 (3)| | ||
11.484|3|9|98|11q13.2|SLC29A2, HNP36, DER12|P|Solute carrier family 29 (nucleoside transporters), member 2|(hydrophobic nucleolar protein, 36kD)|602110|A|||| | |19(Hnp36)|
11.485|7|2|02|11q13|SMAR|P|Spinal muscular atrophy, chronic distal, autosomal recessive||607088|Fd|no mutations found in IGHMBP2||Spinal muscular atrophy, chronic distal, autosomal recessive (2)| | ||
11.486|5|25|01|11q13.1|SNX15|P|Sorting nexin 15||605964|REc|||| | ||
11.487|10|7|05|11q13|SPOAN|P|Spastic paraplegia, optic atrophy, and neuropathy||609541|Fd|between D11S1908 and D11S1889||Spastic paraplegia, optic atrophy, and neuropathy (2)| | ||
11.488|9|9|13|11q13.2|SPTBN2, SCA5, SCAR14|C|Spectrin, beta, nonerythrocytic, 2||604985|R, H, Fd|||Spinocerebellar ataxia 5, 600224 (3); Spinocerebellar ataxia,|autosomal recessive 14, 615386 (3) | |19(Spnb3)|
11.489|12|9|91|11q13|ST3|C|Suppression of tumorigenicity-3 (tumor-suppressor gene, HELA cell|type)|191181|S, D|||Cervical carcinoma (2)| | ||
11.490|1|31|01|11q13.1|STIP1, HOP|P|Stress-induced phosphoprotein 1||605063|R|||| | ||
11.491|4|17|07|11q13.2|SUV420H1, CGI85|P|Suppressor of variegation 4-20, Drosophila, homolog of, 1||610881|REc|||| | ||
11.492|6|6|00|11q12.2|SYT7|P|Synaptotagmin 7||604146|REc|||| | ||
11.493|12|7|05|11q13.1|SYVN1, HRD1, KIAA1810|P|Synovial apoptosis inhibitor 1||608046|R, REc|||| | ||
11.494|1|13|99|11q13.1|TM7SF2, ANG1|P|Transmembrane 7 superfamily, member 2||603414|REc|||| | ||
11.495|3|14|07|11q13.1|TRPT1|P|Transfer RNA phosphotransferase 1||610470|REc|||| | ||
11.496|10|08|08|11q13.4|UCP2, BMIQ4|P|Uncoupling protein-2||601693|REc, Fd, REn|||{Obesity, susceptibility to, BMIQ4}, 607447 (3)| | |7(Ucp2)|
11.497|5|31|05|11q13.4|UCP3|C|Uncoupling protein-3||602044|REn, R, Psh|||{Obesity, severe, and type II diabetes}, 601665 (3)| | ||
11.498|11|5|98|11q12.3|UHG, U22HG|P|U22 host gene||603222|A, R|||| | ||
11.499|6|25|99|11q13.5|UVRAG|P|UV radiation resistance-associated gene||602493|A, Psh|||| | ||
11.500|12|29|09|11q12.3|BEST1, VMD2, ARB, RP50|C|Bestrophin 1||607854|Fd, Psh|1 family not linked to 11||Best macular dystrophy, 153700 (3); Maculopathy, bull's-eye (3);|Vitelliform macular dystrophy, adult-onset, 608161 (3); Bestrophinopathy, 611809 (3); Vitreoretinochoroidopathy, 193220 (3); Microcornea, rod-cone|dystrophy, cataract, and posterior staphyloma, 193220 (3); Retinitis pigmentosa-50, 613194 (3); Retinitis pigmentosa, concentric, 613194 (3)||Forsman (1992); Stone (1992)
11.501|1|27|97|11q13.1|VEGFB, VRF|P|Vascular endothelial growth factor B||601398|REc, Psh|||| | ||
11.502|11|3|92|11q13|VRNI|P|Vitreoretinopathy, neovascular inflammatory||193235|Fd|||Vitreoretinopathy, neovascular inflammatory (2)| | ||
11.503|5|7|03|11q22.1-q22.2|YAP1|P|Yes-associated protein 1, 65kD||606608|A, REa|||| | ||
11.504|10|2|07|11q13.2|YIF1A, YIF1|P|Yip1-interacting factor, S. cerevisiae, homolog of, A||611484|R, REc|||| | ||
11.505|2|22|11|11q13.1|ZNHIT2, C11orf5, FON|P|Zinc finger HIT domain containing protein 2||604575|REc|||| | ||
11.506|2|6|08|11q13.2|ACTN3|P|Actinin, alpha-3||102574|REa, A|||[Alpha-actinin-3 deficiency] (3); [Sprinting performance] (3)| | |19(Actn3)|
11.507|11|23|09|11q13.4|KCNE3, HOKPP, HYPP|P|Potassium voltage-gated channel, ISK-related subfamily, member 3||604433|R|||Brugada syndrome 6, 613119 (3)| | ||
11.508|6|25|99|11q13.5-q14.1|PAK1|P|p21/CDC42/RAC1-activated kinase 1||602590|REc|||| | ||
11.509|10|23|87|11q13-q22|ESA4|C|Esterase-A4||133220|S|||| | |9(Es17)|
11.510|10|23|87|11q12.3|GANAB|P|Neutral alpha-glucosidase AB||104160|S|||| | ||
11.511|9|18|12|11q13.1|AP5B1, DKFZp761E198|P|Adaptor-related protein complex 5, beta-1 subunit||614367|REc|||| | ||
11.512|5|16|05|11q12.3-q13.1|ATL3|P|Atlastin 3||609369|REc|||| | ||
11.513|11|16|09|11q13.1|BAD, BCL2L8|P|BCL1 antagonist of cell death||603167|REc|||| | ||
11.514|7|1|11|11q13.1|BANF1, BAF, NGPS|P|Barrier to autointegration factor 1||603811|R|||Nestor-Guillermo progeria syndrome, 614008 (3)| | ||
11.515|1|15|13|11q13.1|BATF2, SARI|P|Basic leucine zipper transcription factor, ATF-like 2||614983|REc|||| | ||
11.516|10|26|12|11q13.2|CABP2, DFNB93|C|Calcium-binding protein 2||607314|A, REn|||Deafness, autosomal recessive 93, 614899 (3)| | ||
11.517|1|31|13|11q13.2|CABP4, CSNB2B|P|Calcium-binding protein 4||608965|REc|||Night blindness, congenital stationary (incomplete), 2B, autosomal|recessive, 610427 (3) | ||
11.518|11|3|11|11q13.1|CATSPER1, CATSPER, SPGF7|P|Cation channel, sperm-associated, 1||606389|REc|||Spermatogenic failure 7, 612997 (3)| | ||
11.519|8|30|11|11q13.1|CCDC88B, GIPIE|P|Coiled-coil domain-containing protein 88B||611205|REc|||| | ||
11.520|4|5|11|11q13.1|CDCA5, SORORIN|P|Cell division cycle-associated protein 5 (sororin)||609374|R, REc|||| | ||
11.521|8|19|13|11q13.2|CTSF, CLN13|P|Cathepsin F||603539|A, REa|||Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)| | ||
11.522|2|12|99|11q13.1|CTSW|P|Cathepsin W||602364|A|||| | ||
11.523|11|16|06|11q13.3|FGF19|P|Fibroblast growth factor 19||603891|REc|||| | |7(Fgf15)|
11.524|12|5|03|11q13.1|FIBP|P|Fibroblast growth factor, acidic, intracellular binding protein||608296|A|||| | ||
11.525|7|15|09|11q13.2|LRFN4, SALM3|P|Leucine-rich repeat and fibronectin type III domain-containing protein|4|612810|REc, H|||| | |19(Lrfn4)|
11.526|5|19|09|11q13.1|MALAT1, PRO1073|C|Metastasis-associated lung adenocarcinoma transcript 1||607924|Ch, REc|fused with TFEB in renal tumors||| | ||
11.527|3|23|09|11q13.1|MIR192, MIRN192|P|Micro RNA 192||610939|REc|||| | ||
11.528|3|23|09|11q13.1|MIR194-2, MIRN194-2|P|Micro RNA 194-2||610941|REc|||| | ||
11.529|3|1|01|11q13.3|MYEOV|P|Myeloma overexpressed gene||605625|A|||| | ||
11.530|5|19|09|11q13.1|NCRNA00084, NEAT1, TNCRNA|C|Noncoding RNA 84||612769|REc, H|||| | |19(Ncrna00084)|
11.531|6|5|08|11q13.1|OTUB1, OTU1, OTB1|P|OTU domain-containing ubiquitin aldehyde-binding protein 1||608337|REc|||| | ||
11.532|1|14|13|11q13.1-q13.2|PACS1, MRD17|P|Phosphofurin acidic cluster sorting protein 1||607492|REc|||Mental retardation, autosomal dominant 17, 615009 (3)| | ||
11.533|10|15|97|11q12.3|POLR2G|P|Polymerase (RNA) II (DNA directed) polypeptide G||602013|R, REc|||| | ||
11.534|2|4|09|11q13.2|RAB1B|P|Ras-associated protein RAB1B||612565|REc|||| | ||
11.535|5|25|13|11q13.1|RPS6KA4, RSKB, MSK2|P|Ribosomal protein S6 kinase, 90kD, 4||603606|REc|||| | ||
11.536|9|17|09|11q12.2|SDHAF2, SDH5, PGL2|P|Succinate dehydrogenase complex assembly factor 2||613019|REc, Fd|||Paragangliomas 2, 601650 (3)| | ||
11.537|1|2|08|11q13.1|SLC22A20, OAT6|P|Solute carrier family 22, member 20||611696|REc|||| | |19(Slc22a20)|
11.538|3|12|07|11q13.1|SLC25A45|P|Solute carrier family 25, member 45||610825|REc|||| | |19(Slc25a45)|
11.539|9|8|11|11q13.1|SPDYC, RINGOC|P|Speedy, xenopus, homolog of, C||614030|REc|||| | ||
11.540|3|8|07|11q13.2|TBC1D10C, CARABIN|P|TBC1 domain family, member 10C||610831|REc|||| | ||
11.541|9|13|01|11q13.2|BRMS1|P|Breast cancer metastasis suppressor 1||606259|A|||| | ||
11.542|6|25|99|11q13.2|RAD9A, RAD9|P|RAD9, S. pombe, homolog of||603761|A, RE|||| | ||
11.543|2|27|03|11q12.3|SLC22A6, OAT1, PAHT|C|Solute carrier family 22 (organic anion transporter), member 6||607582|REa, R, A|||| | ||
11.544|12|13|00|11q13.2|TBX10|P|T-box 10||604648|A, REc|||| | |19(Tbx10)|
11.545|3|23|93|11q13.1|FKBP2|P|FK506-binding protein-2, 13kD||186946|A|||| | ||
11.546|1|8|95|11q13.1|MAP3K11, MLK3, PTK1, SPRK|P|Mitogen-activated protein kinase kinase kinase 11||600050|A|||| | ||
11.547|1|5|12|11q13.2|ACY3, HCBP1|P|Aminoacylase 3||614413|REc|||| | |19(Acy3)|
11.548|4|6|13|11q13.2|ANKRD13D|P|Ankyrin repeat domain-containing protein 13D||615126|REc|||| | ||
11.549|7|1|13|11q13.2|B3GNT1, IGNT, IGAT, MDDGA13|P|Beta-1,3-N-acetylglucosaminyltransferase 1||605517|R, REc|||Muscular dystrophy-dystroglycanopathy (congenital with brain and eye|anomalies), type A, 13, 615287 (3) | ||
11.550|5|24|13|11q13.2|CNIH2, CNIL|P|Cornichon, Drosophila, homolog of, 2||611288|REc|||| | ||
11.551|7|22|11|11q13.2|CHKA, CHK|P|Choline kinase, alpha||118491|REc|||| | ||
11.552|1|24|06|11q13.2|CORO1B|P|Coronin 1B||609849|REc|||| | |19(Coro1b)|
11.553|3|31|09|11q13.3|MRGPRD, MRGD|P|Mas-related G protein-coupled receptor family, member D||607231|REc|||| | ||
11.554|3|31|09|11q13.3|MRGPRF, MRGF, RTA|P|Mas-related G protein-coupled receptor family, member F||607233|REc|||| | ||
11.555|2|28|08|11q13.3|MRPL21|P|Mitochondrial ribosomal protein L21||611834|REc|||| | ||
11.556|3|5|08|11q13.4|MRPL48|P|Mitochondrial ribosomal protein L48||611853|REc|pseudogene on 6||| | ||
11.557|12|5|03|11q13.4|NADSYN1|P|NAD synthetase 1||608285|R, REc|||| | ||
11.558|9|2|12|11q13.2|PELI3|P|Pellino, Drosophila, homolog of, 3||609827|REc|||| | ||
11.559|10|15|07|11q13.1|RNASEH2C, AYP1, FLJ20974, AGS3|P|Ribonuclease H2, subunit C||610330|REc, Fd|||Aicardi-Goutieres syndrome 3, 610329 (3)| | ||
11.560|4|3|12|11q13.2|SSH3|P|Slingshot, Drosophila, homolog of, 3||606780|R|||| | ||
11.561|6|7|10|11q13.2|SYT12, SRG1|P|Synaptotagmin 12||606436|REc|||| | ||
11.562|9|24|08|11q13.3|TPCN2, TPC2, SHEP10|C|Two-pore segment channel 2||612163|REc|||[Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)| | ||
11.563|2|2|01|11q13.3|MTL5, TESMIN|P|Metallothionein-like 5, testis-specific||604374|A|||| | |19(Mtl5)|
11.564|6|8|07|11q13.3|IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6|P|Immunoglobulin mu binding protein 2||600502|A|||Neuronopathy, distal hereditary motor, type VI, 604320 (3)| | |19(Ighmbp2)|
11.565|4|1|08|11q13.2|AIP, XAP2, ARA9|P|Aryl hydrocarbon receptor-interacting protein||605555|REa, A|||Pituitary adenoma, growth hormone-secreting, 102200 (3);|Pituitary adenoma, prolactin-secreting, 600634 (3); Pituitary adenoma, ACTH-secreting, 219090 (3)| ||
11.566|8|25|06|11q13.2|CLCF1, BSF3, CLC|C|Cardiotrophin-like cytokine||607672|A, R|||Cold-induced sweating syndrome 1, 610313 (3)| | ||
11.567|3|28|06|11q13.3|CLLS1|C|Leukemia, chronic lymphocytic, susceptibility to, 1||609630|Fd|||{Leukemia, chronic lymphocytic, susceptibility to, 1} (2)| | ||
11.568|8|3|12|11q13.4|DNAJB13, TSARG6|P|DNAJ/HSP40 homolog, subfamily B, member 13||610263|REc|||| | ||
11.569|3|10|11|11q13.3|FADD|C|FAS-associating protein with death domain||602457|REa, A|||Infections, recurrent, with encephalopathy, hepatic dysfunction,|and cardiovasuclar malformations, 613759 (3) | ||
11.570|2|26|08|11q13.2|MRPL11|P|Mitochondrial ribosomal protein L11||611826|R|||| | ||
11.571|8|21|07|11q13.3|PPFIA1, LIP1|P|Protein-tyrosine phosphatase, receptor-type, F polypeptide-interacting|protein alpha-1|611054|R, REc|||| | ||
11.572|8|28|97|11q13.2|PTPRCAP, LPAP|P|Protein tyrosine phosphatase, receptor type, c polypeptide-associated|protein|601577|A|||| | ||
11.573|10|17|05|11q13.1|SIPA1, SPA1|C|Signal-induced proliferation-associated gene-1||602180|A, REc, H|||Metastasis efficiency, modification of (1)| | |19(Spa1)|
11.574|12|23|05|11q13.4|XRRA1|P|X-ray radiation resistance-associated 1||609788|REc|||| | ||
11.575|11|24|08|11q13.4|LRTOMT, LRTOMT1, LRTOMT2, DFNB63|P|Leucine-rich transmembrane O-methyltransferase||612414|REc, REn|||Deafness, autosomal recessive 63, 611451 (3)| | |7(Lrrc51, Tomt)|
11.576|3|20|03|11q13.4|PHOX2A, ARIX, CFEOM2|C|Paired-like (astraless) homeobox 2a||602753|REa, A, Fd|||Fibrosis of extraocular muscles, congenital, 2, 602078 (3)| | |7(Arix)|
11.577|9|7|10|11q13.3-q13.4|SHANK2, CORTBP1, AUTS17|P|SH3 and multiple ankyrin repeat domains 2||603290|R, REc|||{Autism susceptibility 17}, 613436 (3)| | ||
11.578|3|23|93|11q13.3-q13.4|ZNF126|P|Zinc finger protein-126 (HZF-2)||194633|A|||| | ||
11.579|10|12|09|11q13.4|FOLR1|C|Folate receptor-1, adult||136430|REa, A, Fd, REn|telomeric of FGF3||Neurodegeneration due to cerebral folate transport deficiency,|613068 (3) | ||
11.580|10|20|92|11q13.4|FOLR2|P|Folate receptor-2 (fetal)||136425|A, REn|23kb from FOLR1||| | ||
11.581|12|18|98|11q13.3|GAL, GALN, GLNN|P|Galanin||137035|Psh, A|||| | |19(Glnn)|
11.582|3|18|95|11q13.4|RNU15A|P|RNA, U15a small nucleolar||600455|Psh, A, REn|processed from intron of RPS3||| | ||
11.583|3|18|95|11q13.4|RPS3|P|Ribosomal protein S3||600454|Psh, A, REn|||| | ||
11.584|7|13|12|11q13.4|ANAPC15, APC15|P|Anaphase-promoting complex, subunit 15||614717|REc|||| | ||
11.585|1|12|07|11q13.4|CHCHD8, E2IG2|P|Coiled-coil-helix-coiled-coil-helix domain containing 8||608016|REc, R|||| | ||
11.586|12|15|10|11q13.4|C11orf59, PDRO|P|Chromosome 11 open reading frame 59||613510|REc|||| | ||
11.587|12|2|09|11q13.4|CHRDL2, CHL2, BNF1|P|Chordin-like 2||613127|REc, H|||| | |7(Chrdl2)|
11.588|8|22|13|11q13.4|IL18BP|P|Interleukin 18-binding protein||604113|REc|||| | ||
11.589|7|26|11|11q13.2|LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4|C|Low density lipoprotein receptor-related protein-5||603506|H, A, R|||Osteoporosis-pseudoglioma syndrome, 259770 (3); [Bone mineral density|variability 1], 601884 (3); Hyperostosis, endosteal, 144750 (3); van Buchem disease, type 2, 607636 (3); Osteosclerosis, 144750 (3); {Osteoporosis}, 166710|(3); Exudative vitreoretinopathy 4, 601813 (3); Osteopetrosis, autosomal dominant 1, 607634 (3)|19(Lrp5)|
11.590|3|7|13|11q13.4|MIR139, MIR139-3p|P|Micro RNA 139||615017|REc|||| | ||
11.591|5|25|13|11q13.4|PDE2A|P|Phosphodiesterase 2A||602658|REc|||| | ||
11.592|2|18|08|11q13.4|PGM2L1|P|Phosphoglucomutase 2-like 1||611610|R, REc|||| | ||
11.593|9|10|07|11q13.4|PPME1|P|Protein phosphatase methylesterase 1||611117|R, REc|||| | ||
11.594|10|12|90|11q13.4|RAB6A, RAB6|P|Oncogene RAB6||179513|A, REc|previously assigned to 2q14-q21||| | ||
11.595|9|18|08|11q13.4|RELT, TNFRSF19L|P|Receptor expressed in lymphoid tissues||611211|R, REc|||| | ||
11.596|4|20|04|11q13.5|EMSY, C11orf30|P|EMSY gene||608574|A, R, REn|100kb from GARP||| | ||
11.597|3|3|03|11q14.1|GAB2|C|GRB2-associated binding protein 2||606203|R, A|||| | |7(Gab2)|
11.598|2|19|10|11q13.4-q13.5|GDPD5, GDE2, PP1665|P|Glycerophosphodiester phosphodiesterase domain-containing protein 3||609632|REc|||| | ||
11.599|8|25|04|11q13.2|PC|C|Pyruvate carboxylase||608786|REa, H, A|||Pyruvate carboxylase deficiency, 266150 (3)| | |19(Pc)|
11.600|6|26|00|11q13.2|TCIRG1, TIRC7, OC116, OPTB1|C|T-cell immune regulator 1||604592|A, Fd, H|||Osteopetrosis, autosomal recessive 1, 259700 (3)| | |19(oc)|
11.601|1|9|94|11p14.1|KCNA4, KCNA8|C|Potassium voltage-gated channel, shaker-related subfamily, member 4||176266|REa, A, H|other map to 11p||| | |2(Kcna4)|
11.602|3|23|93|11q13.5|OMP|P|Olfactory marker protein||164340|REa, A|||| | |7(Omp)|
11.603|10|12|09|11q13.5|ATOD7|P|Dermatitis, atopic, 7||613064|Fd|associated with rs7927894||{Dermatitis, atopic, susceptibility to, 7} (2)| | ||
11.604|10|4|91|11q13.4|KRTAP5-9, KRN1|C|Keratin associated protein 5-9||148021|A, R|||| | ||
11.605|6|21|12|11q13.5|LRRC32, GARP, D11S833E|C|Leucine rich repeat containing 32||137207|A, REn|||| | |7(Garp)|
11.606|8|3|12|11q13.5|MOGAT2, MGAT2|P|Monoacylglycerol O-acyltransferase 2||610270|REc|||| | ||
11.607|11|26|97|11q13.5|MYO7A, USH1B, DFNB2, DFNA11|C|Myosin VIIA||276903|Fd|||Usher syndrome, type 1B, 276900 (3); Deafness, autosomal recessive 2,|600060 (3); Deafness, autosomal dominant 11, 601317 (3) | |7(sh1, Myo7a)|
11.608|3|9|00|11q13.4|NEU3, SIAL3|P|Neuraminidase 3 (membrane sialidase; sialidase 3)||604617|A|||| | ||
11.609|7|15|99|11q13.4|P2RY2, P2Y2, P2U|C|Purinergic receptor P2Y, G-protein coupled, 2||600041|Psh, A|||| | ||
11.610|7|15|99|11q13.4|P2RY6, P2Y6|P|Pyrimidinergic receptor P2Y, G protein-coupled, 6||602451|Psh, A|||| | ||
11.611|12|20|12|11q13.5|SERPINH1, SERPINH2, PPROM, CBP2, CBP1, OI10|P|Serpin peptidase inhibitor, clade H, member 1||600943|A|||{Preterm premature rupture of the membranes, susceptibility to},|610504 (3); Osteogenesis imperfecta, type X, 613848 (3) | ||
11.612|6|9|98|11q14.1|THRSP|C|Thyroid hormone responsive SPOT14, rat, homolog of||601926|A|||| | ||
11.613|1|12|07|11q13.5|TSKU, E2IG4, TSK|P|Tsukushin||608015|REc|||| | ||
11.614|6|25|99|11q13.5|WNT11|P|Wingless-type MMTV integration site family, member 11||603699|A, Psh|||| | ||
11.615|3|9|98|11q14.1|CLNS1A, CLNS1B|P|Chloride channel, nucleotide-sensitive, 1A||602158|A|CLNS1B on 6p12.1-q13 = pseudogene?||| | ||
11.616|11|21|02|11q14.2|RAB38|C|Ras-family, member RAB38||606281|R, H, REc|||| | |7(Rab38, cht)|
11.617|3|1|06|11q14.1|AQP11, AQPX1|P|Aquaporin 11||609914|REc|||| | ||
11.618|7|22|13|11q13.5|B3GNT6|P|Beta-1,3-N-acetylglucosaminyltransferase 6||615315|REc|||| | ||
11.619|6|6|00|11q13.5|CAPN5, HTRA3|P|Calpain 5||602537|R|||| | ||
11.620|4|17|07|11q14|GCRG224|P|Gastric cancer-related gene 224||610888|REc|||| | ||
11.621|10|9|09|11q14.2|PICALM, CALM, CLTH, LAP|P|Phosphatidylinositol-binding clathrin assembly protein||603025|Ch|fuses with AF10 in t(10;11)||Leukemia, acute myeloid, 601626 (3); Leukemia, acute T-cell|lymphoblastic (3) | ||
11.622|6|9|98|11q14.1|PRCP, PCP|P|Prolylcarboxypeptidase (angiotensinase C)||176785|Psh, REc, R|||| | ||
11.623|10|28|02|11q14|SLEH1|P|Systemic lupus erythematosus with hemolytic anemia, susceptibility to,|1|607279|Fd|||{Systemic lupus erythematosus with hemolytic anemia} (2)| | ||
11.624|7|20|09|11q14.1|SYTL2, SLP2, SLP2A, EXO4, KIAA1597|P|Synaptotagmin-like 2||612880|R, REc|||| | ||
11.625|12|14|98|11q14-q21|SCZD2|L|Schizophrenia susceptibility locus, chromosome 11-related||603342|Ch|||{?Schizophrenia}, 181500 (2)| | ||
11.626|10|11|06|11q14.2|FZD4, EVR1|C|Frizzled, Drosophila, homolog of, 4||604579|A, Fd|||Exudative vitreoretinopathy, 133780 (3); Retinopathy of prematurity,|133780 (3) | ||
11.627|10|8|13|11q14.3|TYR, SHEP3, CMM8, OCA1A, ATN|C|Tyrosinase||606933|REa, A, H, F|||Albinism, oculocutaneous, type IA, 203100 (3); Waardenburg|syndrome/albinism, digenic, 103470 (3); Albinism, oculocutaneous, type IB, 606952 (3); [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800|(3); {Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3); [Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3)|7(Tyr)|
11.628|5|15|08|11q14-q22|IHPS3|P|Pyloric stenosis, infantile hypertrophic, 3||612017|Fd|max lod at rs541821||Pyloric stenosis, infantile hypertrophic, 3 (2)| | ||
11.629|7|15|09|11q14.1|NARS2|P|Asparaginyl-tRNA synthetase 2||612803|REc|||| | ||
11.630|5|25|13|11q14.1|NDUFC2|P|NADH-ubiquinone oxidoreductase 1, subunit C2||603845|REc|||| | ||
11.631|10|24|11|11q14.1|ODZ4, TNM4, DOC4, KIAA1302|P|ODZ, Drosophila, homolog of, 4||610084|REc, R, H|||| | |7(Odz4)|
11.632|9|16|12|11q14.1|PCF11, KIAA0824|P|PCF11, yeast, homolog of||608876|REc|||| | ||
11.633|11|19|13|11q14.1|TMEM126B|P|Transmembrane protein 126B||615533|REc|||| | ||
11.634|12|21|12|11q14.2|CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD|C|Cathepsin C||602365|A, REc, Fd|||Papillon-Lefevre syndrome, 245000 (3); Haim-Munk syndrome, 245010|(3); Periodontitis 1, juvenile, 170650 (3) | |7(Ctsc)|
11.635|9|2|09|11q14.1|TMEM126A, OPA7|P|Transmembrane protein 126A||612988|REc|||Optic atrophy-7, 612989 (3)| | ||
11.636|12|10|12|11q14.2|C11orf73, HIKESHI|P|Hikeshi||614908|REc|||| | ||
11.637|4|19|12|11q14.2-q14.3|GRM5, MGLUR5|P|Glutamate receptor, metabotropic, 5||604102|REc|||| | |7(Grm5)|
11.638|7|12|02|11q14.3|NOX4, RENOX|C|NADPH oxidase 4||605261|REc, A|||| | ||
11.639|6|8|01|11q14.2|EED, WAIT1|P|Embryonic ectoderm development protein, mouse, homolog of||605984|A|||| | ||
11.640|8|3|12|11q13.2|RHOD, ARHD, RHOHP1|P|Ras homolog gene family, member D||605781|R|||| | ||
11.641|3|24|11|11q21|SLC36A4, PAT4|P|Solute carrier family 36, member 4||613760|REc|||| | ||
11.642|1|18|11|11q14.3|UBTFL1, HMGPI|P|Upstream binding transcription factor (RNA polymerase I)-like 1||613696|REc|||| | ||
11.643|12|17|08|11q14.3|FAT3|C|FAT tumor suppressor, Drosophila, homolog of, 3||612483|R, REc|||| | ||
11.644|1|2|08|11q14.3|NAALAD2|P|N-acetylated alpha-linked acidic dipeptidase 2||611636|A|||| | ||
11.645|5|29|12|11q21|AMOTL1, JEAP|P|Angiomotin-like 1||614657|REc|||| | ||
11.646|9|21|11|11q21|C11orf75, FN5|C|FN5, pufferfish, homolog of||609477|R, Psh|||| | ||
11.647|7|28|11|11q21|CEP57, PIG8, TSP57, KIAA0092, MVA2|P|Centrosomal protein 57kD||607951|REc|||Mosaic variegated aneuploidy syndrome 2, 614114 (3)| | ||
11.648|6|25|99|11q14.1|DLG2|P|Discs large, Drosophila, homolog of, 2|(channel-associated protein of synapses, 110kD)|603583|R, REc|||| | ||
11.649|4|22|05|11q21|GPR83, GIR, GPR72|P|G protein-coupled receptor 83||605569|R|||| | |9(Gpr83)|
11.650|5|19|94|11q21|FUT4, FCT3A, CD15|C|Fucosyltransferase 4 (alpha (1,3) fucosyltransferase,|myeloid-specific)|104230|S, REa, R|||| | |9(Fut4)|
11.651|12|28|08|11q21|JMJD2D|P|Jumonji domain-containing protein 2D||609766|REc, REn|||| | ||
11.652|11|3|98|11q21|JRKL, HHMJG|P|Jerky, mouse, homolog-like||603211|A|||| | ||
11.653|3|3|03|11q21|MAML2, MAM3|P|Mastermind-like 2||607537|Ch|t(11;19)||Mucoepidermoid salivary gland carcinoma (3)| | ||
11.654|12|21|10|11q21|MED17, CRSP6, CRSP77, TRAP80, DRIP80|P|Mediator complex subunit 17||603810|R, REc|||Microcephaly, postnatal progressive, with seizures and brain|atrophy, 613668 (3) | ||
11.655|12|29|99|11q21|MRE11A, MRE11, ATLD|P|Meiotic recombination 11, S. cerevisiae, homolog A of||600814|REa, A|like gene on 7q11.2-q11.3||Ataxia-telangiectasia-like disorder, 604391 (3)| | ||
11.656|8|8|13|11q21|PANX1, PX1|P|Pannexin 1||608420|REc, R|||| | ||
11.657|5|13|03|11q21|SEST3|P|Sestrin 3||607768|A|||| | |10(Sest3)|
11.658|7|16|09|11q21|TAF1D, RAFI41, JOSD3|P|TATA box-binding protein-associated factor 1D||612823|REc|||| | ||
11.659|2|21|10|11q21-q22|FGQTL3|P|Fasting plasma glucose level QTL 3||613233|Fd|associated with rs10830963||[Fasting plasma glucose level QTL 3] (2)| | ||
11.660|8|18|98|11q22.3|GUCY1A2, GUC1A2|P|Guanylate cyclase 1, soluble, alpha 2||601244|A|||| | ||
11.661|10|18|00|11q22.3|ICEBERG|P|Caspase 1 inhibitor||605354|REc|||| | ||
11.662|9|29|96|11q22.2|MMP7|C|Matrix metalloproteinase 7 (matrilysin, uterine)||178990|H, REa, Psh, A|||| | ||
11.663|11|15|94|11q22.2|MMP8, CLG1|P|Matrix metalloproteinase 8 (neutrophil collagenase)||120355|A|||| | ||
11.664|3|30|12|11q14.3|MTNR1B|P|Melatonin receptor 1B||600804|REa|||{Diabetes mellitus, type 2, susceptiblity to}, 125853 (3)| | ||
11.665|9|9|13|11q21|MIR1260B|P|Micro RNA 1260B||615372|REc|||| | ||
11.666|7|6|05|11q22.1|TRPC6, TRP6, FSGS2|C|Transient receptor potential channel-6||603652|A, Fd|||Glomerulosclerosis, focal segmental, 2, 603965 (3)| | ||
11.667|10|17|02|11q22.1|CNTN5, NB2|P|Contactin 5||607219|A|||| | ||
11.668|4|1|03|11q22.1|ANGPTL5|P|Angiopoietin-like 5||607666|REc|||| | ||
11.669|10|27|92|11q22.3|FDX1, ADX|C|Ferredoxin-1 (adrenodoxin)||103260|REa, A|pseudogene on 20q11-q12||| | ||
11.670|8|1|05|11q22.3|INCA|P|Inhibitory caspase recruitment domain protein||609490|REc|||| | ||
11.671|5|28|03|11q21|MTMR2, CMT4B1|C|Myotubularin-related protein 2||603557|A, R, Psh|||Charcot-Marie-Tooth disease, type 4B1, 601382 (3)| | ||
11.672|10|21|02|11q22.1|PGR|C|Progesterone receptor||607311|REa, A, REb|11q13 = earlier regionalization||?Progesterone resistance, 264080 (2)| | |9(Pgr)|
11.673|12|19|11|11q21|SRSF8, SFRS2B, SRp46|P|Splicing factor, arginine/serine-rich, 8||603269|A|||| | ||
11.674|9|22|98|11q22.2|API2, HAIP1|P|Apoptosis inhibitor-2||601721|A|fused with MALT1 in MALT lymphoma||| | ||
11.675|7|6|99|11q22.2|API1, HIAP2|P|Apoptosis inhibitor-1||601712|A|||| | ||
11.676|11|4|98|11q24.2|CHEK1, CHK1|P|Checkpoint kinase 1, S. pombe, homolog of||603078|R|||| | ||
11.677|2|17|09|11q24.1|CRTAM|P|Cytotoxic and regulatory T-cell molecule||612597|REc, H|||| | |9(Crtam)|
11.678|1|7|99|11q22.3|CUL5, VACM1|P|Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1)||601741|REc|||| | ||
11.679|4|30|96|11q22.3|DDX10|P|DEAD/H box-10 (RNA helicase)||601235|REa, Ch|400kb telomeric to ATM; pseudogene on 9q21-q22; fused with NUP98 in|AML|| | ||
11.680|3|1|94|11q22.3|GRIA4, GLUR4|P|Glutamate receptor, ionotropic, AMPA 4||138246|Psh, A|||| | |9(Glur4)|
11.681|3|9|98|11q23.1|HSPB2|P|Heat-shock 27kD protein-2||602179|REc|||| | ||
11.682|6|24|08|11q22.2|MMP1, CLG|C|Matrix metalloproteinase 1 (interstitial collagenase)||120353|REn|||COPD, rate of decline of lung function in, 606963 (3); {Epidermolysis|bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3) | ||
11.683|5|28|98|11q22.3|SLN|P|Sarcolipin||602203|Psh, R|||| | ||
11.684|10|15|98|11q23.1|PPP2R1B|P|Protein phosphatase 2, structural/regulatory subunit A, beta||603113|REc, R|||Lung cancer, 211980 (3)| | ||
11.685|6|27|08|11q23.3|TECTA, DFNA8, DFNA12, DFNB21|C|Tectorin, alpha||602574|Psh, REc|||Deafness, autosomal dominant 8/12, 601543 (3); Deafness, autosomal|recessive 21, 603629 (3) | ||
11.686|4|24|90|11q22-qter|ANC|L|Anal canal carcinoma||105580|Ch|3p22 also deleted||?Anal canal carcinoma (2)| | ||
11.687|6|1|12|11q22.1|KIAA1377|P|KIAA1377 gene||614634|R, REc|||| | ||
11.688|7|9|06|11q22.2|TMEM123, PORIMIN|P|Transmembrane protein 123||606356|REc|||| | ||
11.689|8|20|98|11q22.3|CASP1, IL1BC|C|Caspase 1, apoptosis-related cysteine protease (interleukin-1, beta|convertase)|147678|REa, A|||| | |9(Ilb1bc)|
11.690|3|16|99|11q22.3|CASP4|P|Caspase 4, apoptosis-related cysteine protease||602664|REc|||| | ||
11.691|3|16|99|11q22.3|CASP5|P|Caspase 5, apoptosis-related cysteine protease||602665|REc|||| | ||
11.692|6|25|99|11q23.1|IL18, IGIF|P|Interleukin-18||600953|R, Psh|||| | ||
11.693|5|19|97|11q22.2|MMP12|P|Matrix metalloproteinase 12 (macrophage elastase)||601046|A|||| | ||
11.694|3|16|10|11q22.3|ALKBH8, ABH8|P|AlkB, E. coli, homolog of, 8||613306|REc|||| | ||
11.695|4|12|13|11q22.3|ATM, ATA, AT1|C|Ataxia-telangiectasia mutated (includes complementation groups A, C,|D, and E)|607585|Fd, C, M|||Ataxia-telangiectasia, 208900 (3); Lymphoma, B-cell non-Hodgkin,|somatic (3); {Breast cancer, susceptibility to}, 114480 (3); Lymphoma, mantle cell (3); T-cell prolymphocytic leukemia, somatic (3)| |9(Atm)|
11.696|5|31|05|11q22.3|CASP12, CASP12P1|P|Caspase 12, apoptosis-related cysteine protease||608633|REc|||{Sepsis, susceptibility to} (3)| | ||
11.697|5|24|13|11q22.3|DYNC2H1, DNCH2, DHC2, ATD3, SRPS2B|P|Dynein, cytoplasmic-2, heavy chain-1||603297|Psh, R, REc|||Asphyxiating thoracic dystrophy 3, 613091 (3); Short rib-polydactyly|syndrome, type III, 263510 (3); Short rib-polydactyly syndrome, type IIB, 615087 (3)| ||
11.698|12|10|13|11q22.3|ELMOD1|P|ELMO/CED12 domain-containing protein 1||615456|REc|||| | ||
11.699|1|24|13|11q22.3|EXPH5, SLAC2B, KIAA0624|P|Exophilin 5||612878|R, REc|||Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)| | ||
11.700|1|7|95|11q23.3|GRIK4|P|Glutamate receptor, ionotropic, kainate 4||600282|REa, A|||| | |9(Grik4)|
11.701|10|12|09|11q22.2|MMP13, CLG3, MANDP1|C|Matrix metalloproteinase 13 (collagenase 3)||600108|A, REn, Fd|||Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3);|Metaphyseal anadysplasia 1, 602111 (3) | ||
11.702|1|12|99|11q22.3|NPAT, E14|P|Nuclear protein, ataxia-telangiectasia locus||601448|REn, REc|||| | ||
11.703|12|28|08|11q22.3|PDGFD, SCDGFB, IEGF|P|Platelet-derived growth factor D||609673|REc, R|||| | ||
11.704|1|9|13|11q22.3|ZC3H12C, MCPIP3|P|Zinc finger CCCH domain-containing protein 12C||615001|REc|||| | ||
11.705|7|13|94|11q22.2|MMP10, STMY2|P|Matrix metalloproteinase 10 (stromelysin 2)||185260|A|||| | ||
11.706|8|4|09|11q22.2|MMP20, AI2A2|P|Matrix metalloproteinase-20 (enamelysin)||604629|A|||Amelogenesis imperfecta, type IIA2, 612529 (3)| | ||
11.707|10|29|03|11q22.3|ACAT1|C|Acetyl-Coenzyme A acetyltransferase-1 (acetoacetyl Coenzyme A|thiolase)|607809|A|cluster: cen-STMY2-CLG-STMY1-ter||Alpha-methylacetoacetic aciduria, 203750 (3)| | ||Fukao (1990, 1992)
11.708|1|22|08|11q23.1|BCDO2, BCO2|P|Beta-carotene dioxygenase 2||611740|R, REc|||| | ||
11.709|8|6|13|11q23.1|CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2|C|Crystallin, alpha B||123590|REa, A, Ch|||Myopathy, myofibrillar, 2, 608810 (3);|Cataract 16, multiple types, 613763 (3); Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869 (3); Cardiomyopathy,|dilated, 1II, 615184 (3) ||
11.710|4|15|09|11q23.1|PTS|P|6-pyruvoyltetrahydropterin synthase||612719|A|||Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)| | ||
11.711|12|29|05|11q23.1|ALG9, DIBD1, CDG1L|C|Alg9, yeast, homolog of||606941|REc, Ch|||Congenital disorder of glycosylation, type Il, 608776 (3)| | ||
11.712|12|20|05|11q23.3|AMICA1, JAML|P|Adhesion molecule, interacts with CXADR antigen 1||609770|REc|||| | ||
11.713|7|21|06|11q23.3|APOA1|C|Apolipoprotein A-I||107680|REa, RE, Fd, F, D|||ApoA-I and apoC-III deficiency, combined (3);|Hypoalphalipoproteinemia, 604091 (3); Corneal clouding, autosomal recessive (3); Amyloidosis, 3 or more types, 105200 (3)| |9(Apoa1)|
11.714|7|1|11|11q23.3|APOC3, HALP2|C|Apolipoprotein C-III||107720|REa, RE, F|2.6kb 3' to APOA1||Hyperalphalipoproteinemia 2, 614028 (3)| | ||
11.715|3|15|91|11q23.3|APOA4|C|Apolipoprotein A-IV||107690|F, RE|12 kb 3' to APOA1||| | |9(Apoa4)|
11.716|11|14|05|11q23.3|APOA5|C|Apolipoprotein A-V||606368|REc|proximal to APOA1, APOC3, APOA4||{Hypertriglyceridemia, susceptibility to}, 145750 (3);|Hyperchylomicronemia, late-onset, 144650 (3) | ||
11.717|5|18|05|11q23|BMND5|P|Bone mineral density QTL 5||609354|Fd|between D11S901 and D11S925||[Bone mineral density QTL 5] (2)| | ||
11.718|11|13|94|11q23|BRCATA|P|Breast cancer, 11;22 translocation associated||600048|Ch|associated with t(11;22)(q23;q11)||Breast cancer, 11:22 translocation associated (1)| | ||
11.719|2|27|01|11q23.1|BTG4, PC3B|P|B-cell translocation gene 4||605673|R|||| | ||
11.720|1|20|09|11q23.3|CD3D, T3D|C|CD3D antigen, delta polypeptide (TiT3 complex)||186790|REa, A, RE|3 CD3 genes in 50kb||Severe combined immunodeficiency, T cell-negative, B-cell/natural|killer-cell positive, 608971 (3) | |9(T3d)|
11.721|1|20|09|11q23.3|CD3E|P|CD3E antigen, epsilon polypeptide (TiT3 complex)||186830|REa, A, RE|||Immunodeficiency due to defect in CD3-epsilon (3); Severe combined|immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3)| |9(T3e)|
11.722|3|17|98|11q23.3|CD3G|C|CD3G antigen, gamma polypeptide (TiT3 complex)||186740|RE, REa, A|||Immunodeficiency due to defect in CD3-gamma (3)| | |9(T3g)|
11.723|8|20|08|11q23|CRCS7|P|Colorectal cancer, susceptibility to, 7||612232|Fd|associated with rs3802842||{Colorectal cancer, susceptibility to, 7} (2)| | ||
11.724|2|11|08|11q23.3|DSCAML1, KIAA1132|C|Down syndrome cell adhesion molecule-like 1||611782|R, A, H|||| | |9(Dscaml1)|
11.725|8|3|12|11q24.2|EI24, PIG8, EPG4|P|Etoposide-induced 1.4 mRNA||605170|A|||| | |9(Ei24)|
11.726|11|1|00|11q23.3|FXYD2, ATP1G1, HOMG2|C|FXYD domain-containing ion transport regulator 2|(sodium-potassium-ATPase, gamma polypeptide)|601814|REc, Fd|||Hypomagnesemia-2, renal, 154020 (3)| | ||
11.727|11|21|00|11q23|GTS|L|Gilles de la Tourette syndrome||137580|Fd|several loci suspected (e.g., 17q25)||Tourette syndrome (2)| | ||
11.728|3|7|13|11q13.4|INPPL1, OPSMD|P|Inositol polyphosphate phosphatase-like 1||600829|Psh|||Opsismodysplasia, 258480 (3)| | ||
11.729|7|20|06|11q23|JBS|C|Jacobsen syndrome||147791|Ch|contiguous gene deletion syndrome||Jacobsen syndrome (4)| | ||
11.730|5|4|12|11q23.3|MFRP, MCOP5, NNO2|P|Membrane-type frizzled-related protein||606227|REc|||Microphthalmia, isolated 5, 611040 (3); Nanophthalmos 2, 609549 (3)| | ||
11.731|9|14|12|11q23.3|MLL, HRX, HTRX1, WDSTS|C|Myeloid/lymphoid or mixed-lineage leukemia (trithorax, Drosophila,|homolog)|159555|Ch, RE|fuses with ENL, AF4, AF9, GMPS||Wiedemann-Steiner syndrome, 605130 (3);|Leukemia, myeloid/lymphoid or mixed-lineage (2) | |9(All1)|
11.732|3|31|03|11q22.2|MMP3, STMY1, CHDS6|C|Matrix metalloproteinase 3 (stromelysin 1, progelatinase)||185250|REa, A|||{Coronary heart disease, susceptibility to, 6}, 614466 (3)| | ||
11.733|6|7|10|11q23|NAFLD2|P|Fatty liver disease, nonalcoholic, susceptibility to, 2||613387|Fd|associated with rs2854116, rs2854117||{Fatty liver disease, nonalcoholic, susceptibility to, 2} (2)| | ||
11.734|10|2|98|11q23.3|PAFAH1B2|C|Platelet-activating factor acetylhydrolase, isoform Ib, beta subunit||602508|R, REc, A|||| | ||
11.735|1|5|07|11q23.3|PDZD3, IKEPP|P|PDZ domain-containing 3||607146|REc|||| | ||
11.736|1|31|01|11q12.3|RARRES3, TIG3|P|Retinoic acid receptor responder 3||605092|REc|||| | ||
11.737|8|22|07|11q22.3|RDX, DFNB24|C|Radixin||179410|REa, Psh, A|||Deafness, autosomal recessive 24, 611022 (3)| | ||
11.738|7|20|01|11q23.3|RNF26|P|RING finger protein-26||606130|REc|||| | ||
11.739|9|9|13|11q23.3|SCN2B, ATFB14|C|Sodium channel, voltage-gated, type II, beta polypeptide||601327|H, A, REc, R|||Atrial fibrillation, familial, 14, 615378 (3)| | |9(Scn2b)|
11.740|2|26|08|11q23.3|SCN4B|P|Sodium channel, voltage-gated, type IV, beta subunit||608256|REc|||Long QT syndrome-10, 611819 (3)| | ||
11.741|3|14|13|11q23.1|SDHD, PGL1, CWS3|C|Succinate dehydrogenase complex, subunit D, integral membrane protein||602690|A|||Paragangliomas 1, with or without deafness, 168000 (3);|Pheochromocytoma, 171300 (3); Carcinoid tumors, intestinal, 114900 (3); Merkel cell carcinoma, somatic (3); Paraganglioma and gastric stromal|sarcoma, 606864 (3); Cowden syndrome 3, 615106 (3) ||
11.742|5|19|09|11q23.3|SLC37A4, G6PT1|C|Solute carrier family 37 (glucose-6-phosphate transporter), member 4||602671|Fd, Psh, R|||Glycogen storage disease Ib, 232220 (3); Glycogen storage disease Ic,|232240 (3) | ||
11.743|6|20|94|11q23|TCPT|L|Thrombocytopenia, Paris-Trousseau type (deletion 11q23 syndrome)||188025|Ch|contiguous gene deletion of 11q23||?Thrombocytopenia, Paris-Trousseau type (4)| | ||
11.744|6|9|06|11q23.3|TMPRSS13, MSPL, MSPS|P|Transmembrane protein, serine 13||610050|R, REc|||| | ||
11.745|7|10|08|11q23.3|TREH|P|Trehalase||275360|H, REc|||Trehalase deficiency, 612119 (1)| | |9(Treh)|
11.746|12|31|99|11q23|TSG11|P|Tumor suppressor gene on chromosome 11||603040|D|||{Nonsmall cell lung cancer} (2)| | ||
11.747|2|7|07|11q23.2|USP28, KIAA1515|C|Ubiquitin-specific protease 28||610748|R, REc|||| | ||
11.748|7|20|12|11q24.2|VWA5A, LOH11CR2A, BCSC1|C|von Willebrand factor A domain-containing protein 5A||602929|REc|||| | ||
11.749|2|23|09|11q23-q24|ADIPQTL4|P|Adiponectin, serum level of, quantitative trait locus locus 4||612629|Fd|between D11S925 and D11S968||{Adiponectin, serum level of, QTL4} (2)| | ||
11.750|4|21|10|11q23.3|HVEC, PVRL1, PVRR1, PRR1, ED4, OFC7, CLPED1|C|Herpesvirus entry mediator C (poliovirus receptor-related 1; nectin)||600644|A|||Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3);|Orofacial cleft 7, 225060 (3) | ||
11.751|8|31|92|11q24.2|SRPR|C|Signal recognition particle receptor||182180|REa, A, Psh|||| | ||
11.752|12|19|11|11q24.2|TIRAP, BACTS1|P|TIR domain-containing adaptor protein||606252|R|||{Pneumococcal disease, invasive, protection against}, 610799 (3);|{Bacteremia, protection against}, 614382 (3); {Malaria, protection against}, 611162 (3); {Tuberculosis, protection against}, 607948 (3)| ||
11.753|5|31|05|11q24.2|ROBO3, RBIG1, RIG1, HGPPS|C|Roundabout, Drosophila, homolog of, 3||608630|Fd, R, REc|||Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)| | ||
11.754|1|23|09|11q23.1|DLAT, PDCE2|P|Dihydrolipoamide S-acetyltransferase||608770|A|||Pyruvate dehydrogenase E2 deficiency, 245348 (3)| | ||
11.755|9|12|08|11q23.2|DRD2|C|Dopamine receptor D2||126450|Fd, REa, Ch|11q22-q23 junction; 150kb 5' to NCAM; centromeric to APOA1;|telomeric to STMY1|Dystonia, myoclonic, 159900 (3)| | ||
11.756|10|23|87|11q23.1|EBVM1|P|Epstein-Barr virus modification site-1||132860|V|||| | ||
11.757|3|9|00|11q23.2|HTR3B|P|5-hydroxytryptamine receptor 3B||604654|REc|||| | ||
11.758|8|20|98|11q23.2|NCAM1, MSK39|C|Neural cell adhesion molecule 1||116930|A, Fd|defective in "staggerer" in mice||| | |9(Ncam)|
11.759|10|4|05|11q23.2|NNMT|C|Nicotinamide N-methyltransferase||600008|A|||Homocysteine plasma level (2)| | ||
11.760|4|23|96|11q23.1|POU2AF1, OBF1|P|POU domain, class 2, associating factor 1||601206|REa, A|||| | ||
11.761|8|21|12|11q23.1|SIK2, KIAA0781|P|Salt-inducible kinase 2||608973|R, REc|||| | ||
11.762|12|4|08|11q23.2|ZBTB16, ZNF145, PLZF|C|Zinc finger- and BTB domain-containing protein 16|(promyelocytic leukemia zinc finger)|176797|Ch, A|fused with RARA in APL of t(11;17) type||Leukemia, acute promyelocytic, PL2F/RARA type (3); Skeletal defects,|genital hypoplasia, and mental retardation, 612447 (3) | |9(lu)|
11.763|12|9|95|11q23.2|HTR3|P|5-hydroxytryptamine (serotonin) receptor-3||182139|REa, A|||| | ||
11.764|12|18|08|11q23.2|RBM7|P|RNA-binding motif protein 7||612413|REc|||| | ||
11.765|9|28|05|11q23.2|REXO2, RFN|P|RNA exonuclease 2, S. cerevisiae, homolog of||607149|REc|||| | ||
11.766|3|23|93|11q24.3|ZNF123|P|Zinc finger protein-123 (HZF-1)||194630|A|||| | ||
11.767|3|23|93|11q23.1-q23.2|ZNF125|P|Zinc finger protein-125 (HZF-3)||194632|A|||| | ||
11.768|11|15|06|11q23.2|ANKK1|C|Ankyrin repeat and kinase domain containing 1||608774|REc, REn|||Dopamine receptor D2, reduced brain density of (3)| | ||
11.769|5|14|09|11q23.1|C11orf34, PLET1|P|Chromosome 11 open reading frame 34||611904|REc, H|||| | |9(Plet1)|
11.770|5|28|99|11q23.3|TAGLN, SMCC, SM22|P|Transgelin||600818|Psh, R|||| | |9(Tagln)|
11.771|2|28|01|11q23.3|IGSF4|P|Immunoglubulin superfamily, member 4||605686|REc|||| | ||
11.772|1|30|07|11q23.2|TTC12, TPARM|P|Tetratricopeptide repeat domain 12||610732|REc|||| | ||
11.773|3|2|98|11q23.3|H2AX|P|H2AX histone||601772|A|||| | ||
11.774|3|8|07|11q24.1|SORL1, LR11, SORLA|C|Sortilin-related receptor, L(DLR class) A repeats-containing||602005|A|||{Alzheimer disease, pathogenesis, association with}, 104300 (3)| | ||
11.775|5|22|03|11q23.3|ABCG4, WHITE2|P|ATP-binding cassette, subfamily G, member 4||607784|REc, H|||| | |9(Abcg4)|
11.776|12|11|95|11q23.3|ARCN1|P|Archain 1||600820|Ch|60kb telomeric to MLL||| | ||
11.777|12|6|00|11q23.3|ARHGEF12, LARG, KIAA0382|P|Rho guanine nucleotide exchange factor 12, leukemia-associated||604763|A, R|fused with MLL in AML||Leukemia, acute myeloid, 601626 (3)| | ||
11.778|2|20|01|11q23.3|BACE1, BACE|C|Beta-site amyloid beta A4 precursor protein-cleaving enzyme|(secretase, beta; memapsin 2)|604252|REc, R|||| | ||
11.779|10|3|11|11q23.3|BACE1AS|P|BACE1 antisense RNA||614263|REc|||| | ||
11.780|11|2|04|11q23.3|BCL9L|P|B-cell CLL/lymphoma 9-like||609004|REc|||| | ||
11.781|5|31|05|11q23.3|C1QTNF5, CTRP5, LORD|C|C1q- and tumor necrosis factor-related protein 5||608752|REn, REc|||Retinal degeneration, late-onset, autosomal dominant, 605670 (3)| | ||
11.782|6|2|11|11q23.3|CBL, CBL2, NSLL|C|Cas-Br-M ecotropic retroviral transforming sequence (Oncogene CBL2)||165360|REa, Ch|||Noonan syndrome-like disorder with or without juvenile|myelomonocytic leukemia, 613563 (3) | |9(Cbl2)|
11.783|10|4|12|11q23.3|CEP164, KIAA1052|P|Centrosomal protein, 164kD||614848|R, REc|||Nephronophthisis 15, 614845 (3)| | ||
11.784|9|9|08|11q23.3|CXCR5, BLR1|P|Chemokine, CXC motif, receptor 5||601613|REc|||| | ||
11.785|3|4|96|11q23.3|DDX6, HLR2|P|DEAD/H box-6 (RNA helicase, 54kD)||600326|Ch, REn|||| | |9(Ddx6)|
11.786|11|30|12|11q23.3|DPAGT1, DPAGT2, DGPT, CDG1J, CMSTA2|C|Dolichyl-phosphate N-acetylglucosamine phosphotransferase||191350|R, REa, A|||Congenital disorder of glycosylation, type Ij, 608093 (3);|Myasthenic syndrome, congenital, with tubular aggregates 2, 614750 (3) | |17(Dpagt2)|
11.787|1|13|93|11q24.3|ETS1|C|Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1||164720|REa, A, Ch|shown by HSR; 19cM distal to THY1; Ewing sarcoma breakpoint region-2|splices to EWSR1|| | |9(Ets1, Fli1)|
11.788|7|18|12|11q23.3|HDLCQ14, HYLAP|P|High density lipoprotein cholesterol level quantitative trait locus|14|605201|Fd|||High density lipoprotein cholesterol level QTL14 (2)| | ||
11.789|1|13|06|11q23.3|HMBS, PBGD, UPS|C|Hydroxymethylbilane synthase||609806|S, D, Fd, REn|||Porphyria, acute intermittent, 176000 (3); Porphyria, acute|intermittent, nonerythroid variant, 176000 (3) | |9(Ups)|
11.790|1|12|11|11q23.3|IL10RA, IL10R, IBD28|C|Interleukin-10 receptor, alpha||146933|REa, A|||Inflammatory bowel disease 28, early onset, autosomal recessive,|613148 (3) | ||
11.791|5|24|13|11q23.3|LRRC35, EL|P|Leucine-rich repeat-containing protein 35||610451|REc, R|||| | ||
11.792|6|18|12|11q23.3|MCAM, MUC18, CD146|P|Melanoma adhesion molecule||155735|R, REc|||| | ||
11.793|1|2|08|11q23.3|MPZL3|P|Myelin protein zero-like 3||611707|REc|||| | |9(Mpzl3)|
11.794|4|23|08|11q23.3|NLRX1, NOD9, CLR11.3|P|NLR family member X1||611947|REc|||| | ||
11.795|8|3|12|11q23.3|PCSK7, PC8, PC7, LPC|P|Proprotein convertase, subtilisin/kexin-type, 7||604872|REc|||| | ||
11.796|7|16|09|11q23.3|PHLDB1, LL5A, KIAA0638|C|Pleckstrin homology-like domain, family B, member 1||612834|R, REc|||| | ||
11.797|12|4|02|11q23.3|POU2F3, OCT11|P|POU domain, class 2, transcription factor 3||607394|A|||| | |9(Oct11)|
11.798|3|18|94|11q23.3|RPS25|P|Ribosomal protein S25||180465|A|||| | ||
11.799|11|1|02|11q23.3|SC5DL, ERG3|C|Sterol C5-desaturase-like||602286|A|||Lathosterolosis, 607330 (3)| | ||
11.800|12|2|09|11q24.1|SCN3B, SCNB3|P|Sodium channel, voltage-gated, type III, beta subunit||608214|R|||Brugada syndrome 7, 613120 (3)| | ||
11.801|8|21|12|11q23.3|SIK3, KIAA0999|C|Salt-inducible kinase 3||614776|REc, R|||| | ||
11.802|1|7|14|11q24.2|STT3A, ITM1, TMC|C|STT3A, subunit of the oligosaccharyltransferase complex (catalytic)||601134|REa, H, A, REc|mutation identified in 1 family||?Congenital disorder of glycosylation, type Iw, 615596 (3)| | |9(Itm1)|
11.803|7|4|95|11q23.3|THY1|C|Thy-1 T-cell antigen||188230|REa, H, A, Fd, REn|||| | |9(Thy1)|
11.804|4|26|11|11q23.3|TMEM25|P|Transmembrane protein 25||613934|REc|||| | |9(Tmem25)|
11.805|12|17|01|11q23.3|TMPRSS4|P|Transmembrane protease, serine 4||606565|R|||| | ||
11.806|3|3|03|11q23.2|TMPRSS5|P|Transmembrane protease, serine 5||606751|REc|||| | ||
11.807|5|21|07|11q23.3|TRAPPC4|P|Trafficking protein particle complex, subunit 4|(synbindin)|610971|R, REc|||| | ||
11.808|3|17|08|11q23.3|UPK2, UP2, UPII|P|Uroplakin 2||611558|REc|||| | ||
11.809|6|25|99|11q24.1|ZNF202|P|Zinc finger protein-202||603430|D|||| | ||
11.810|7|22|13|11q23.3|ZNF259, ZPR1|P|Zinc finger protein 259||603901|REc|||| | ||
11.811|7|12|02|11q23.3-q24|AAT1, FAA1|P|Aortic aneurysm, familial thoracic 1||607086|Fd|||Aortic aneurysm, familial thoracic 1 (2)| | ||
11.812|10|4|95|11q24.1|HSPA8, HSP73|P|Heat-shock 70kD protein-8 (HSP73)||600816|REa, A|||| | ||
11.813|10|24|00|11q24.3|APLP2|C|Amyloid beta (A4) precursor-like protein-2||104776|REa, A|||| | |9(Aplp2)|
11.814|11|6|94|11q24.3|FLI1|C|Friend leukemia virus integration 1||193067|REa, Ch, A|fused with EWS in Ewing sarcoma; within 200-400kb of ETS1||| | ||
11.815|4|3|03|11q24.2|GRTH|P|Gonadotropin-regulated testicular RNA helicase||607663|A, H|||| | |9(Grth)|
11.816|5|23|11|11q24.2|HEPACAM, MLC2A, MLC2B|P|Hepatocyte cell adhesion molecule||611642|REc|||Megalencephalic leukoencephalopathy with subcortical cysts 2A,|613925 (3); Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)| ||
11.817|8|23|04|11q24.3|KCNJ1, ROMK1|C|Potassium inwardly-rectifying channel, subfamily J, member 1||600359|A|||Bartter syndrome, type 2, 241200 (3)| | ||
11.818|6|11|11|11q24.3|KCNJ5, GIRK4, KATP1, LQT13|P|Potassium inwardly-rectifying channel, subfamily J, member 5||600734|Psh, R, REc|||Long QT syndrome 13, 613485 (3); Hyperaldosteronism, familial, type|III, 613677 (3) | |9(Girk4)|
11.819|4|21|01|11q24|MGR9|P|Migraine with aura, susceptibility to, 9||609670|Fd|max lod at GATA64D03||{Migraine with aura, susceptibility to, 9} (2)| | ||
11.820|1|2|08|11q23.3|MPZL2, EVA1, EVA|P|Myelin protein zero-like 2||604873|REc|||| | |9(Eva)|
11.821|10|7|05|11q24|NEDE|P|Nephropathy, progressive, with deafness||609469|Fd|max lod at D11S4464||Nephropathy, progressive, with deafness (2)| | ||
11.822|6|19|98|11q24.2|NRGN|P|Neurogranin||602350|REc|||| | |9(Nrgn)|
11.823|1|29|01|11q24.3|P53AIP1|P|p53-regulated apoptosis-inducing protein-1||605426|A|||| | ||
11.824|4|18|02|11q24.2|PATE|P|Prostate- and testis-expressed gene||606861|REc|||| | ||
11.825|1|26|12|11q24.2|SIAE, AIS6|P|Sialic acid acetylesterase||610079|R|||{Autoimmune disease, susceptibility to, 6}, 613551 (3)| | ||
11.826|7|10|08|11q24-q25|ANIB7|P|Aneurysm, intracranial berry, 7||612161|Fd|between rs618176 and rs1940033||Aneurysm, intracranial berry, 7 (2)| | ||
11.827|10|21|92|11q24.3|NFRKB|P|Nuclear factor related to kappa B-binding protein||164013|REa, A|most telomeric 11q marker||| | ||
11.828|10|2|09|11q24.2|PKNOX2, PREP2|P|PBX/Knotted 1 homeobox 2||613066|A|||| | ||
11.829|2|19|07|11q24.3|ST14, MTSP1|C|Suppression of tumorigenicity 14||606797|A|||Ichthyosis with hypotrichosis, 610765 (3)| | ||
11.830|9|24|08|11q24.1|BLID, BRCC@|C|BH3-like motif-containing cell death inducer||608853|REc, REn|distal to SORL1||| | ||
11.831|8|21|07|11q24.1|BSX1|P|Brain-specific homeobox, mouse, homolog of||611074|REc, H|||| | |9(Bsx)|
11.832|1|27|09|11q24.1|CLLS5|P|Leukemia, chronic lymphocytic susceptibility to, 5||612559|Fd|associated with rs735665||{Leukemia, chronic lymphocytic susceptibility to, 5} (2)| | ||
11.833|5|24|13|11q24.1|CLMP, ASAM, ACAM, CSBS|P|Coxsackievirus- and adenovirus receptor-like membrane protein||611693|REc|||Congenital short bowel syndrome, 615237 (3)| | |9(Clmp)|
11.834|12|21|09|11q24.1|MIR100, MIRN100|P|Micro RNA 100||613186|REc, REn|||| | ||
11.835|3|23|09|11q24.1|MIR125B1, MIRN125B1|P|Micro RNA 125B-1||610104|REc|||| | ||
11.836|3|23|09|11q24.1|MIRLET7A2, LET7A2, MIRNLET7A2|P|Micro RNA let7a2||612142|REc|||| | ||
11.837|7|10|08|11q24.1|UBASH3B, STS1, KIAA1959, P70|P|Ubiquitin-associated and SH3 domain-containing protein B||609201|R, REc|||| | ||
11.838|9|21|11|11q24.2|CDON, CDO, HPE11|C|Cell adhesion molecule-related/downregulated by oncogenes||608707|R, REc|||Holoprosencephaly 11, 614226 (3)| | ||
11.839|5|26|13|11q24.2|DCPS, HINT5, DCS1|P|Decapping enzyme, scavenger||610534|REc|||| | ||
11.840|10|10|11|11q24.2|ESAM|P|Endothelial cell adhesion molecule||614281|REc|||| | ||
11.841|11|16|11|11q24.2|FEZ1|P|Fasciculation and elongation protein zeta 1||604825|R, REc|||| | ||
11.842|10|25|11|11q24.2|FOXRED1|P|FAD-dependent oxidoreductase domain-containing protein 1||613622|REc|||Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3);|Mitochondrial complex I deficiency, 252010 (3) | ||
11.843|12|18|07|11q24.2|HEPN1|P|Cancer susceptibility gene HEPN1||611641|REc|||| | ||
11.844|1|10|07|11q24.2|HYLS1, FLJ32915|C|HYLS1 gene||610693|Fd, REc|||Hydrolethalus syndrome, 236680 (3)| | ||
11.845|2|17|09|11q24.2|KIRREL3, NEPH2, KIAA1867, KIRRE, MRD4|P|Kin of IRRE-like 3||607761|R|||Mental retardation, autosomal dominant 4, 612581 (3)| | ||
11.846|2|21|03|11q24.2|ROBO4|P|Roundabout, Drosophila, homolog of, 4||607528|REc|||| | ||
11.847|11|30|06|11q24.2|TBRG1, NIAM|P|Transforming growth factor-beta regulator 1||610614|R, REc|||| | ||
11.848|12|10|12|11q24.3|ARHGAP32, RICS, GRIT, p200RHOGAP, p250GAP|P|Rho GTPase activating protein 32||608541|REc, R|||| | ||
11.849|8|30|07|11q25|ACAD8|P|Acyl-CoA dehydrogenase family, member 8||604773|REc|||Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)| | ||
11.850|1|31|01|11q24.3|ADAMTS8, METH2|P|A disintegrin-like and metalloproteinase with thrombospondin type-1|motif, 8|605175|R, H|||| | |9(Adamts8)|
11.851|4|17|07|11q25|B3GAT1, GLCATP, CD57, HNK1|P|Beta-1,3-glucuronyltransferase 1||151290|A, S|||| | ||
11.852|1|29|01|11q24.3|BARX2|P|BarH-like homeo box gene 2||604823|A|||| | ||
11.853|4|19|12|11q25|HJCD, HCLAP|P|Histiocytosis with joint contractures and sensorineural deafness||602782|Fd|||Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)| | ||
11.854|2|24|11|11q25|IGSF9B, KIAA1030|P|Immunoglobulin superfamily, member 9B||613773|R, REc|||| | ||
11.855|2|11|11|11q25|JAM3|P|Junctional adhesion molecule 3||606871|REc|||Hemorrhagic destruction of the brain, subependymal calcification,|and cataracts, 613730 (3) | ||
11.856|5|24|13|11q25|NCAPD3, CAPD3, KIAA0056|P|Non-SMC condensin II complex subunit D3||609276|REc, R|||| | ||
11.857|1|11|07|11q25|NTM, HNT|P|Neurotrimin||607938|REc|||| | |9(Ntm)|
11.858|2|11|09|11q25|OPCML|C|Opioid-binding protein/cell adhesion molecule-like||600632|REa, H, REc|||{Ovarian cancer, somatic}, 167000 (3)| | |9(Obcam)|
11.859|12|23|05|11q25|SPATA19|P|Spermatogenesis-associated protein 19||609805|REc|||| | ||
11.860|2|8|11|11q25|THYN1, HSPC144, THY28|P|Thymocyte nuclear protein 1||613739|R, REc|||| | ||
11.861|4|19|06|11q25|VPS26B|P|Vacuolar protein sorting 26, yeast, homolog of, B||610027|REc|||| | |9(Vps26b)|
11.862|10|20|99|11q25-qter|DFNB20|P|Deafness, autosomal recessive 20||604060|Fd|||Deafness, autosomal recessive 20 (2)| | ||
11.863|4|2|01|11q13.2|ALDH3B1, ALDH7|P|Aldehyde dehydrogenase 3 family, member B1||600466|R|||| | ||
11.864|7|9|01|Chr.11|AOCH|P|Acromegaloid features, overgrowth, cleft palate, and hernia||606049|Ch|pericentric inversion (46,XY,inv(11)(p15.3;q23.3))||Acromegaloid features, overgrowth, cleft palate, and hernia (2)| | ||
11.865|4|2|01|11q13.2|ALDH3B2, ALDH8|P|Aldehyde dehydrogenase 3 family, member B2||601917|R|||| | ||
11.866|7|3|88|11q12.2|CD6, TP120|P|CD6 antigen||186720|S|||| | ||
11.867|2|4|02|11q13.4|CENTD2, ARAP1, KIAA0782|P|Centaurin, delta-2||606646|R|||| | ||
11.868|4|28|99|11p11.2|CRY2|P|Cryptochrome 2||603732|R|||| | |2(Cry2)|
11.869|1|8|01|11q13.1|DIPA|P|Delta antigen-interacting protein A||605360|R|||| | ||
11.870|9|30|02|11q13.5|DGAT2|P|Diacylglycerol O-acyltransferase 2||606983|R|||| | ||
11.871|2|20|01|11q13.2|FBXL11, FBL11|P|F-box and leucine-rich repeat protein-11||605657|R|||| | ||
11.872|2|21|02|11q23.3|FXYD6|P|FXYD domain-containing ion transport regulator 6||606683|R|||| | ||
11.873|7|15|02|11q23.3|HYOU1|P|Hypoxia-upregulated 1||601746|R|||| | ||
11.874|3|11|03|11p15.4|IPO7, RANBP7|P|Importin 7||605586|R|||| | ||
11.875|11|5|00|11q12.1|LPXN|P|Leupaxin||605390|R|||| | ||
11.876|2|28|01|11p15.4|LYVE1|P|Lymphatic vessel endothelial hyaluronan receptor 1||605702|R|||| | ||
11.877|7|12|02|11q23.3|MIZF|P|MBD2-interaction zinc finger protein||607099|R|||| | ||
11.878|3|10|03|11p11.2|NUP160, KIAA0197|P|Nucleoporin, 160kD||607614|Psh|||| | ||
11.879|5|7|01|11q13.1|SART1, HOMS1|P|Squamous cell carcinoma antigen recognized by T cells 1||605941|R|||| | ||
11.880|2|5|01|11q13.1|SF3B2, SF3B145, SAP145|P|Splicing factor 3B, subunit 2||605591|R|||| | ||
11.881|8|20|98|11q24.2|SIAT4C, SIAT4, CGS23, NANTA3|P|Sialyltransferase-4C (alpha-3-N-acetylneuraminyltransferase)||104240|S|||| | ||
11.882|1|29|01|11q13.4|SLC21A9, OATPB|P|Solute carrier family 21 (organic anion transporter), member 9||604988|R|||| | ||
11.883|2|27|03|11q12.3|SLC22A8, OAT3|P|Solute carrier family 22 (organic anion transporter), member 8||607581|R|||| | ||
11.884|1|29|01|11p15.2|SPON1|P|F-spondin, Rat, homolog of||604989|R|||| | ||
11.885|5|7|03|11p11.2|SYT13, KIAA1427|P|Synaptotagmin 13||607716|R|||| | ||
11.886|3|29|01|11q23.1|TEX12|P|Testis-expressed gene 12||605791|R|||| | ||
11.887|6|6|00|11q23.3|UBE4A, UFD2, E4|P|Ubiquitination factor E4A||603753|REa|||| | ||
11.888|1|26|97|Chr.11|ZNF75C|P|Zinc finger protein-75C||601474|REa|||| | ||
11.889|11|21|02|11q23.2|ZW10|P|Zeste-white 10, Drosophila, homolog of||603954|R|||| | ||
12.1|1|24|06|12p13.33|DCP1B, DCP1|P|Decapping enzyme 1, S. cerevisiae, homolog of||609843|REc, R|||| | ||
12.2|6|13|12|12p13.33|FBXL14, FBL14|P|F-box and leucine-rich repeat protein 14||609081|REc|||| | |6(Fbxl14)|
12.3|7|22|11|12p13.33|C12orf43, RHINO|P|Chromosome 12 open reading frame 32||614085|REc|||| | ||
12.4|4|10|12|12p13.33|FKBP4, FKBP52|P|FK506-binding protein 4||600611|REc|||| | ||
12.5|6|30|08|12p13.33|IQSEC3, KIAA1110|P|IQ motif- and SEC7 domain-containing protein 3||612118|R, REc|||| | ||
12.6|4|8|13|12p13.32|DYRK4|P|Dual-specificity tyrosine phosphorylation-regulated kinase 4||609181|REc|||| | ||
12.7|9|6|11|12p13.32|EFCAB4B, CRACR2A|P|EF-hand calcium-binding domain-containing protein 4B||614178|REc|||| | ||
12.8|2|22|92|12p13.31|LAG3|P|Lymphocyte activation gene-3||153337|A|||| | ||
12.9|12|21|09|12p13.33-p13.32|TSPAN9, NET5|P|Tetraspanin 9||613137|REc|||| | ||
12.10|12|1|11|12p13.31|ACSM4|P|Acyl-CoA synthetase medium-chain family, member 4||614360|REc|||| | ||
12.11|1|4|12|12p13.33|ADIPOR2, FLJ21432|P|Adiponectin receptor 2||607946|REc|||| | |6(Adipor2)|
12.12|2|17|09|12p13.31|ATN1, DRPLA, HRS, NOD|C|Atrophin 1||607462|Fd, D, A|||Dentatorubro-pallidoluysian atrophy, 125370 (3)| | |6(Drpla)|
12.13|12|1|06|12p13.31|A2ML1|P|Alpha-2-macroglobulin-like 1||610627|REc|||| | ||
12.14|11|2|04|12p13.31|C1RL, CLSPA, C1RLP|P|Complement component C1r-like protein||608974|REc|||| | ||
12.15|5|23|11|12p13.31|CD4|C|CD4 antigen (p55)||186940|REa, A|CD = \'cluster of differentiation\' = nomenclature|of leukocyte differentiation antigens|OKT4 epitope deficiency, 613949 (3)| | |6(Ly4)|
12.16|1|13|09|12p13.31|CLEC2A|C|C-type lectin domain family 2, member A||612087|REc|||| | ||
12.17|9|24|08|12p13.2|CLEC9A, DNGR1|P|C-type lectin domain family 9, member A||612252|REc|||| | ||
12.18|1|27|04|12p13.31|DPPA3|P|Developmental pluripotency-associated gene 3||608408|REc, H|||| | |6(Dppa3)|
12.19|9|30|09|12p13.31|FAM90A1|P|Family with sequence similarity 90, member A1||613041|REc|other family members on chr. 8||| | ||
12.20|3|15|04|12p13.31|ING4|C|Inhibitor of growth-4||608524|R, REc, D|||| | ||
12.21|3|23|09|12p13.31|MIR141, MIRN141|P|Micro RNA 141||612093|REc|||| | ||
12.22|3|23|09|12p13.31|MIR200C, MIRN200C|P|Micro RNA 200C||612092|REc|||| | ||
12.23|6|13|12|12p13.31|NANOG|P|Homeobox transcription factor NANOG||607937|REc, H|||| | |6(Nanog)|
12.24|2|18|08|12p13.31|NECAP1|P|NECAP endocytosis-associated protein 1||611623|REc|||| | ||
12.25|9|23|13|12p13.31|PHC1, EDR1, HPH1, RAE28, MCPH11|P|Polyhomeotic-like 1||602978|REc|mutations identified in 1 family||?Microcephaly 11, primary, autosomal recessive, 615414 (3)| | ||
12.26|1|22|08|12p13.31|PLEKHG6, MYOGEF|P|Pleckstrin homology domain-containing protein, family G, member 6||611743|REc|||| | ||
12.27|7|8|11|12p13.31|PTMS|P|Parathymosin||168440|REc|previously assigned to 17q12-q22||| | ||
12.28|2|28|08|12p13.31|RBP5, CRBP3|P|Retinol-binding protein 5||611866|REc|||| | ||
12.29|7|1|11|12p13.31|RIMKLB, NAAGS|P|Ribosomal modification protein RimK-like family, member B||614054|R, REc|||| | ||
12.30|12|18|07|12p13.31|SPSB2, SSB2|P|SPRY domain- and SOCS box-containing 2||611658|REc|||| | ||
12.31|10|5|10|12p13.31|CLEC6A, CLEC4N|P|C-type lectin domain family 6, member A||613579|REc|||| | ||
12.32|10|23|87|12p13.31|GAPDH, GAPD|C|Glyceraldehyde-3-phosphate dehydrogenase||138400|S, D, R|pseudogene on Xp21-q11||| | |6(Gapd)|
12.33|9|2|08|12p13.33|B4GALNT3|P|Beta-1,4-N-acetylgalactosaminyltransferase 3||612220|REc|||| | ||
12.34|3|5|08|12p13.33|CACNA1C, CACNL1A1, CCHL1A1, TS|C|Calcium channel, voltage-dependent, L type, alpha 1C subunit||114205|Psh, Fd, REa, A|||Timothy syndrome, 601005 (3); Brugada syndrome 3, 611875 (3)| | ||
12.35|10|11|06|12p13.33|CACNA2D4, RCD4|C|Calcium channel, voltage-dependent, alpha-2/delta subunit 4||608171|REc|||Retinal cone dystrophy 4, 610478 (3)| | ||
12.36|1|23|01|12p13.31|CD163|C|CD163 antigen (hemoglobin scavenger receptor)||605545|A, REa, R|||| | ||
12.37|9|30|09|12p13.31|CD164L1, CD163B, M160|P|CD164 antigen-like 1||606079|A, R|||| | ||
12.38|5|20|05|12p13.32|FGF23, ADHR, HPDR2, PHPTC|C|Fibroblast growth factor 23||605380|Fd, REc|||Hypophosphatemic rickets, autosomal dominant, 193100 (3);|Osteomalacia, tumor-induced (1); Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)| |6(Fgf23)|
12.39|1|27|04|12p13.32|GALNT8|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 8|606250|REc|||| | ||
12.40|1|2|03|12p13.1|GPRC5D|P|G protein-coupled receptor, family C, group 5, member D||607437|REc|||| | ||
12.41|12|10|13|12q13.13|COPZ1, COPZ|P|Coatomer protein complex, subunit zeta-1||615472|REc|||| | ||
12.42|10|30|08|12p13.3|MAFD9|P|Major affective disorder 9||612372|Fd|associated with rs1006737||{Major affective disorder-9, susceptibility to} (2)| | ||
12.43|10|25|12|12p13.31|PEX5, PXR1, PTS1R, PBD2A, PBD2B|C|Peroxisome biogenesis factor 5||600414|REa, A, R|||Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3);|Peroxisome biogenesis disorder 2B, 202370 (3) | ||
12.44|11|28|94|12p13.31|SLC2A3, GLUT3|P|Solute carrier family 2 (facilitated glucose transporter), member 3||138170|A|pseudogene SLC2A3P on 5q34||| | ||
12.45|8|20|07|12p13.31|SLC2A14, GLUT14|P|Solute carrier family 2 (facilitated glucose transporter), member 14||611039|REc|||| | ||
12.46|3|14|13|12p13.33|SLC6A13, GAT2, GAT3|P|Solute carrier family 6 (neurotransmitter transporter, GABA), member|13|615097|REc|||| | ||
12.47|7|2|02|12p13.31|TAPBPR|P|TAP-binding protein-related protein||607081|REc|||| | ||
12.48|2|20|07|12p13.32|TIGAR, C12orf5|P|TP53-induced glycolysis and apoptosis regulator||610775|REc|||| | ||
12.49|10|4|10|12p13.31|VWF, F8VWF|C|Coagulation factor VIII VWF (von Willebrand factor)||613160|A, REa, REb, Fd|pseudogene on chr. 22||von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3); von|Willebrand disease, type 1, 193400 (3); von Willibrand disease, type 3, 277480 (3)| |6(Vwf)|
12.50|11|4|04|12p13.33|WNT5B|C|Wingless-type MMTV integration site family, member 5B||606361|REc|||| | ||
12.51|10|15|98|12p13.33|TEAD4, TCF13L1, RTEF1|P|TEA domain family, member 4||601714|A|||| | |6(Tcf13l1)|
12.52|7|1|11|12p13.31|A2M , A2MD|C|Alpha-2-macroglobulin||103950|REa, A|cluster of genes||Alpha-2-macroglobulin deficiency, 614036 (1); {Alzheimer|disease, susceptibility to}, 104300 (3) | |6(A2m)|
12.53|3|5|08|12p13.31|MRPL51, MRP64|P|Mitodhondrial ribosomal protein L51||611855|R, REc|||| | ||
12.54|4|19|07|12p13.2|LRP6, ADCAD2|C|Low density lipoprotein receptor-related protein 6||603507|A, R|||{Coronary artery disease, autosomal dominant, 2}, 610947 (3)| | |6(Lrp6)|
12.55|12|24|08|12p13.1|APOLD1, VERGE|P|Apolipoprotein L domain-containing 1||612456|REc|||| | ||
12.56|3|27|90|12p13.2|PRB1|P|Proline-rich protein BstNI, subfamily-1||180989|F, RE|||| | ||
12.57|3|27|90|12p13.2|PRB2|C|Proline-rich protein BstNI, subfamily-2 (parotid size variant)||168810|F, RE|Ps allele||| | ||
12.58|3|27|90|12p13.2|PRB3|C|Proline-rich protein BstNI, subfamily-3 (parotid salivary|glycoprotein)|168840|LD, F, RE|G1 allele||| | ||
12.59|3|27|90|12p13.2|PRB4|C|Proline-rich protein BstNI, subfamily-4||180990|F, RE|Po, CON1, CON2 alleles||| | ||
12.60|4|10|90|12p13.2|PRH1|C|Proline-rich protein HaeIII, subfamily-1||168730|F, LD, RE|Pa, Db, PIF alleles||| | ||
12.61|3|27|90|12p13.2|PRH2|C|Proline-rich protein HaeIII, subfamily-2||168790|F, LD, RE|Pr allele||| | ||
12.62|1|28|88|12p13.2|PCS|P|Parotid proline-rich salivary protein Pc||168710|F|linked to PRB2||| | ||
12.63|6|11|11|12p13.2|TAS2R20, T2R56|C|Taste receptor, type 2, member 20||613962|Psh, REc|||| | ||
12.64|6|27|11|12p13.2|TAS2R30, T2R30, T2R47|P|Taste receptor, type 2, member 30||613963|REc|previously assigned to chr.1||| | ||
12.65|6|26|11|12p13.2|TAS2R45, T2R45|P|Taste receptor, type 2, member 45||613967|REc|||| | ||
12.66|3|23|09|12p13.2|TAS2R43, T2R52|P|Taste receptor, type 2, member 43||612668|REc|||| | ||
12.67|1|24|12|12p13.2|TAS2R31, TAS2R44, T2R53|P|Taste receptor, type 2, member 31||612669|REc|||| | ||
12.68|9|15|09|12p13.2|TAS2R46, T2R46, T2R54|P|Taste receptor, type 2, member 46||612774|REc|||| | ||
12.69|11|4|08|12p13.2|TAS2R50, T2R50, TAS2R51, T2R51|P|Taste receptor, type 2, member 50||609627|Psh, REc|||| | ||
12.70|9|7|12|12p13.31|TNFRSF1A, TNFR1, TNFAR, FPF, MS5|C|Tumor necrosis factor receptor superfamily, member 1A||191190|REa, A, Psh|||Periodic fever, familial, 142680 (3); {Multiple sclerosis,|susceptibility to, 5}, 614810 (3) | |6(Tnfr2)|
12.71|11|12|07|12p13.32|RAD51AP1, PIR51|P|Rad51-associated protein 1||603070|A|||| | |6(Pir51)|
12.72|2|15|02|12p13.31|CLEC4C, CLECSF11, DLEC, BDCA2|P|C-type lectin domain family 4, member C||606677|REc|||| | ||
12.73|9|8|11|12p13.2|CLEC7A, CLECSF12, DECTIN1, CANDF4|C|C-type lectin domain family 7, member A||606264|A, REc|in natural killer gene complex||Candidiasis, familial, 4, autosomal recessive,  613108 (3);|{Aspergillosis, susceptibility to}, 614079 (3) | ||
12.74|1|13|99|12p13.1|GPR19|C|G protein-coupled receptor-19||602927|A, REn|||| | ||
12.75|1|13|99|12p13.2|KLRC1, NKG2, NKG2A|C|Killer cell lectin-like receptor, subfamily C, member 1||161555|REa, A|family of at least 3 genes on 12||| | |6(Klrc1)|
12.76|1|13|99|12p13.2|KLRC2, NKG2C|P|Killer cell lectin-like receptor, subfamily C, member 2||602891|REc|||| | ||
12.77|1|13|99|12p13.2|KLRC3, NKG2E|P|Killer cell lectin-like receptor, subfamily C, member 3||602892|REc|||| | ||
12.78|9|3|98|12p13.2|KLRC4, NKG2F, D12S2489E|P|Killer cell lectin-like receptor, subfamily C, member 4||602893|REc|||| | ||
12.79|1|13|99|12p13.2|KLRD1, CD94|P|Killer cell lectin-like receptor, subfamily D, member 1||602894|REc|||| | ||
12.80|1|29|01|12p13.31|KLRF1|P|Killer cell lectin-like receptor, subfamily F, member 1||605029|REc|||| | ||
12.81|2|26|08|12p13.2|KLRK1, NKG2D|P|Kill cell lectin-like receptor, subfamily K, member 1||611817|REc|||| | ||
12.82|7|18|06|12p13.2-p11.23|DFNB62|P|Deafness, autosomal recessive 62||610143|Fd|between D12S358 and D12S1042||Deafness, autosomal recessive 62 (2)| | ||
12.83|1|6|97|12p13.2-q24.1|IBD2|C|Inflammatory bowel disease 2||601458|Fd, LD|mainly ulcerative colitis||{Inflammatory bowel disease 2} (2)| | ||
12.84|1|7|95|12p13.31|APOBEC1, BEDP|C|Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1||600130|A|||| | ||
12.85|11|22|10|12p13.1|ATF7IP, AM, MCAF, MCAF1|P|Activating transcription factor 7-interacting protein||613644|REc|||| | ||
12.86|1|22|99|12p13.2|CSDA, DBPA|P|Cold-shock domain protein A||603437|A|||| | ||
12.87|10|7|13|12p13.1|DDX47|P|DEAD box polypeptide 47||615428|REc|||| | ||
12.88|1|20|11|12p13.31|GDF3, KFS3, MCOPCB6, MCOP7|P|Growth differentiation factor 3||606522|R|||Klippel-Feil syndrome 3, autosomal dominant, 613702 (3);|Microphthalmia with coloboma 6, 613703 (3); Microphthalmia, isolated 7, 613704 (3)| ||
12.89|2|8|13|12p12.3|HIST4H4|P|Histone gene cluster 4, H4 histone||615069|REc|||| | ||
12.90|2|17|09|12p13.31|MFAP5, MAGP2|P|Microfibril-associated protein 5||601103|A|||| | ||
12.91|1|21|04|12p12.3|MGP, NTI|C|Matrix Gla protein||154870|REa, R, Fd, LD|||Keutel syndrome, 245150 (3); {Natural teeth remaining intact} (2)| | |6(Mglap)|
12.92|4|17|12|12p13.1|GPRC5A, RAI3, RAIG1|P|G protein-coupled receptor, family C, group 5, member A||604138|R, REc|||| | ||
12.93|9|19|00|12p13.31|AICDA, AID, HIGM2|C|Activation-induced cytidine deaminase||605257|A, Fd|||Immunodeficiency with hyper-IgM, type 2, 605258 (3)| | ||
12.94|11|24|08|12p13.31|ANO2, TMEM16B, C12orf3|P|Anoctamin 2||610109|REc|||| | ||
12.95|4|2|90|12p13.31|C1R|C|Complement component-1, r subcomponent||613785|REa, Fd, RE, A|||C1r/C1s deficiency, combined, 216950 (1)| | ||
12.96|3|24|11|12p13.31|C1S|C|Complement component-1, s subcomponent||120580|REa, Fd, RE, A|||C1s deficiency, 613783 (3)| | ||
12.97|4|23|13|12p13.31|C12orf57, C10, TEMTYS|C|Chromosome 12 open reading frame 57||615140|REc, H|||Temtamy syndrome, 218340 (3)| | |6(C12orf57)|
12.98|7|12|92|12p13.32|CCND2|C|Cyclin D2||123833|REa, A|||| | ||
12.99|6|5|89|12p13.31|CD9, MIC3|C|CD9 antigen (p24)||143030|S, REa, A|||| | ||
12.100|5|22|07|12p13.1|CDKN1B, KIP1, CDKN4, MEN4|C|Cyclin-dependent kinase inhibitor 1B (p27, Kip1)||600778|Psh, A, REc, REn|||Multiple endocrine neoplasia, type IV, 610755 (3)| | |7(Cdkn1b)|
12.101|12|3|98|12p13.31|CHD4|P|Chromodomain helicase DNA-binding protein-4||603277|A|||| | ||
12.102|3|26|02|12p13.2|CLEC1A, CLEC1|P|C-type lectin domain family 1, member A||606782|REa|||| | ||
12.103|3|26|02|12p13.2|CLEC2B, CLEC2|P|C-type lectin domain family 1, member B||606783|REa|||| | ||
12.104|3|23|06|12p13.31|CLEC4D, CLECSF8, CLEC6|P|C-type lectin domain family 4, member D||609964|REc|||| | ||
12.105|3|24|06|12p13.31|CLEC2D, LLT1|P|C-type lectin domain family 2, member D||605659|REc|||| | ||
12.106|3|23|06|12p13.31|CLEC4E, MINCLE|P|C-type lectin domain family 4, member E||609962|REc|||| | |6(Clec4e)|
12.107|1|31|01|12p13.31|CLEC4A, CLECSF6, DCIR, DDB27|P|C-type lectin domain family 4, member A||605306|REa, R|||| | ||
12.108|6|27|08|12p13.2|CLEC12A, MICL|P|C-type lectin domain family 12, member A||612088|REc, H|||| | |6(Clec12a)|
12.109|6|25|99|12p13.2|CREBL2|P|Cyclic AMP response element-binding protein-like 2||603476|D, A|||| | ||
12.110|5|13|98|12p13.31|DDX12, CHLR2|P|DEAD/H box-12||601151|Psh, A|||| | ||
12.111|1|11|07|12p13|EDS8|P|Ehlers-Danlos syndrome, type VIII||130080|Fd|prob. genetic heterogeneity||Ehlers-Danlos syndrome, type VIII (2)| | ||
12.112|8|24|09|12p13.31|EMG1, NEP1, C2F, BWCNS|P|Essential for mitotic growth 1, S. cerevisiae, homolog of||611531|REc, Fd|||Bowen-Conradi syndrome, 211180 (3)| | ||
12.113|8|11|91|12p13.31|ENO2|C|Enolase-2, gamma, neuronal||131360|S, D, A, REa|||| | ||
12.114|5|2|06|12p13.2|ETV6, TEL|C|ETS variant gene-6 (TEL oncogene)||600618|RE, Fd, D|fused to PDGFRB or AML1 in leukemia||Leukemia, acute myeloid, somatic, 601626 (3)| | ||
12.115|3|18|94|12p13.32|FGF6|C|Fibroblast growth factor-6||134921|A, Ch, Psh|||| | ||
12.116|11|9|98|12p13.33|FOXM1, FKHL16, HFH11|C|Forkhead box M1||602341|Psh, R, A|||| | ||
12.117|3|17|98|12p13.31|GNB3|C|Guanine nucleotide-binding protein, beta polypeptide-3||139130|REa, A|||{Hypertension, essential, susceptibility to}, 145500 (3)| | |6(Gnb3)|
12.118|2|11|96|12p13.32|KCNA1, AEMK, EA1|C|Potassium voltage-gated channel, shaker-related subfamily, member 1||176260|REa, Fd, A, H|close to VWF||Episodic ataxia/myokymia syndrome, 160120 (3)| | |6(Kcna1)|
12.119|9|8|08|12p13.32|KCNA5, ATFB7|C|Potassium voltage-gated channel, shaker-related subfamily, member 5||176267|REa, Fd, H|||Atrial fibrillation, familial, 7, 612240 (3)| | |6(Kcna5)|
12.120|3|17|94|12p13.32|KCNA6|L|Potassium voltage-gated channel, shaker-related subfamily, member 6||176257|REa|||| | |6(Kcna6)|
12.121|8|19|13|12p13.31|LEPREL2, P3H3|P|Leprecan-like 2||610342|REc|||| | ||
12.122|8|21|98|12p12.3|LMO3, RBTNL2, RHOM3|P|LIM domain only 3 (rhombotin-like 2)||180386|A, Ch|expressed mainly in brain||| | ||
12.123|4|24|08|12p13.31|LPAR5, GPR92, GPR93, LPA5|C|Lysophosphatidic acid receptor 5||606926|REc|||| | ||
12.124|8|21|98|12p13.31|LTBR, TNFCR|L|Lymphotoxin-beta receptor (tumor necrosis factor C receptor)||600979|H|tightly linked to TNFR1 in mouse||| | |6(Tnfcr)|
12.125|12|4|95|12p13.31|M6PR|C|Mannose-6-phosphate receptor, cation-dependent||154540|REa, Psh, A|||| | |6(Mprd)|
12.126|4|23|08|12p13.31|MBOAT5, LPCAT3, NESSY|P|Membrane-bound O-acyltransferase domain-containing 5||611950|REc|||| | ||
12.127|8|29|96|12p13.31|MLF2|P|Myeloid leukemia factor-2||601401|A, REc|||| | ||
12.128|4|29|03|12p13.33|NINJ2|P|Nerve injury-induced protein 2||607297|REc|||| | ||
12.129|10|15|94|12p13.31|NOL1|P|Nucleolar protein 1, 120kD||164031|Psh, A|||| | ||
12.130|6|21|91|12p13.31|NTF3|C|Neurotrophin-3||162660|A, REa|||| | |6(Ntf3)|
12.131|10|25|12|12p12.3|PDE6H, RCD3, ACHM6|C|Phosphodiesterase 6H, cGMP-specific, cone, gamma||601190|A|||Retinal cone dystrophy 3, 610024 (3); Achromatopsia 6, 610024 (3)| | ||
12.132|1|17|07|12p13.31|PHB2, REA|P|Prohibitin 2||610704|R, REc|||| | ||
12.133|1|6|93|12p13.31|PTPN6|P|Protein tyrosine phosphatase, nonreceptor-type, 6||176883|A|||| | |6(Hcph)|
12.134|9|10|07|12p13|SPAX1|C|Spastic ataxia, autosomal dominant||108600|Fd|||Spastic ataxia 1, autosomal dominant (2)| | ||
12.135|10|8|09|12p13.31|SCNN1A, BESC2|C|Sodium channel, nonvoltage-gated 1, alpha||600228|REa, Psh, A, Fd|||Pseudohypoaldosteronism, type I, 264350 (3); Bronchiectasis with|or without elevated sweat chloride 2, 613021 (3) | |6(Scnn1)|
12.136|10|2|98|12p13.33|SLC6A12|P|Solute carrier family 6 (neurotransmitter transporter, betaine/GABA),|member 12|603080|A|||| | ||
12.137|6|11|11|12p13.2|TAS2R19, T2R19, T2R48|P|Taste receptor, type 2, member 19||613961|REc|||| | ||
12.138|6|26|11|12p13.2|TAS2R42, T2R42, T2R55|P|Taste receptor, type 2, member 42||613966|REc|||| | ||
12.139|3|27|13|12p13.31|TNFRSF7, CD27, S152. LPFS2|P|Tumor necrosis factor receptor superfamily, member 7 (CD27 antigen)||186711|Psh, A|||Lymphoproliferative syndrome 2, 615122 (3)| | ||
12.140|11|13|13|12p13.31|TPI1, TPID|C|Triosephosphate isomerase-1||190450|S, D, R, REa|||Hemolytic anemia due to triosephosphate isomerase deficiency, 615512|(3) | |6(Tpi1)|
12.141|4|5|00|12p13.2|TRB1, T2R14|P|Taste receptor, family B, member 1||604790|REc|||| | ||
12.142|4|5|00|12p13.2|TRB2, T2R10|P|Taste receptor, family B, member 2||604791|REc|||| | ||
12.143|4|5|00|12p13.2|TRB3, T2R13|P|Taste receptor, family B, member 3||604792|REc|||| | ||
12.144|4|5|00|12p13.2|TRB4, T2R7|P|Taste receptor, family B, member 4||604793|REc|||| | ||
12.145|4|5|00|12p13.2|TRB5, T2R8|P|Taste receptor, family B, member 5||604794|REc|||| | ||
12.146|4|5|00|12p13.2|TRB6, T2R9|P|Taste receptor, family B, member 6||604795|REc|||| | ||
12.147|12|14|00|12p13.33|TULP3|P|Tubby-like protein 3||604730|R|||| | |6(Tulp3)|
12.148|2|5|99|12p13.31|USP5, ISOT|P|Ubiquitin-specific protease-5 (ubiquitin isopeptidase T)||601447|REn|||| | ||
12.149|2|27|12|12p13.33|WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2|C|WNK lysine deficient protein kinase 1||605232|Fd, REc|||Pseudohypoaldosteronism, type IIC, 614492 (3); Neuropathy,|hereditary sensory and autonomic, type II, 201300 (3) | ||
12.150|6|8|89|12p13.31|PZP|P|Pregnancy zone protein||176420|REa, A|||| | ||
12.151|3|18|95|12p13.33|RAD52|P|RAD52, yeast, homolog of||600392|Psh, A|||| | ||
12.152|2|28|03|12p12.3|ART4, DO, DOK1|C|ADP-ribosyltransferase-4 (Dombrock blood group)||110600|A, Psh|||[Blood group, Dombrock] (3)| | ||
12.153|3|1|94|12p13.31|CD69|C|CD69 antigen (p60, early T-cell activation antigen)||107273|REa, A|||| | ||
12.154|3|24|06|12p13.31|CLEC2B, CLECSF2, AICL|P|C-type lectin domain family 2, member B||603242|REc|||| | ||
12.155|11|3|99|12p13.2|KLRA1, LY49L|P|Killer cell lectin-like receptor, subfamily A, member 1||604274|H, REc|?functional||| | |6(Ly49)|
12.156|1|13|99|12p13.31|KLRB1, NKRP1A|P|Killer cell lectin-like receptor, subfamily B, member 1||602890|Psh, A, REc|||| | ||
12.157|1|9|01|12p13.31|KLRG1, MAFA, MAFAL|P|Killer cell lectin-like receptor, subfamily G, member 1||604874|Psh, REc|||| | |6(Klrg1)|
12.158|11|29|11|12p13.2|OLR1, LOX1|C|Low density lipoprotein, oxidized, receptor 1||602601|A, REn|||{Myocardial infarction, susceptibility to}, 608446 (3)| | ||
12.159|9|6|11|12p12.3|PTPRO, GLEPP1, NPHS6|P|Protein tyrosine phosphatase, receptor type, O||600579|A|||Nephrotic syndrome, type 6, 614196 (3)| | ||
12.160|6|21|94|12q13.3|ATP5B, ATPSB|C|ATP synthase, H+ transporting, mitochondrial F1 complex, beta|polypeptide|102910|REa, REb|||| | ||
12.161|7|14|98|12p12.3|ARHGDIB, GDID4, D4|P|Rho GDP dissociation inhibitor (GDI) beta||602843|A|||| | ||
12.162|10|20|99|12p13.1|EMP1, TMP|C|Epithelial membrane protein-1||602333|REa, A, R|||| | |6(Emp1)|
12.163|5|18|10|12p12.3|EPS8|P|Epidermal growth factor receptor pathway substrate-8||600206|REa, A|previously assigned to 12q||| | ||
12.164|2|28|03|12p13.2|GABARAPL1, GEC1|P|GABA-A receptor-associated protein-like protein 1||607420|R, REc|||| | ||
12.165|9|16|03|12p12.3|PLCZ1|P|Phospholipase C, zeta-1||608075|REc|||| | ||
12.166|5|18|10|12p12.3|STRAP, UNRIP, MAWD|P|Serine/threonine kinase receptor-associated protein||605986|R, REc|previously assigned to 12q||| | ||
12.167|4|25|93|12p12.1|IAPP|C|Islet amyloid polypeptide (diabetes-associated peptide; amylin)||147940|REa, A|||| | ||
12.168|10|8|98|12p12.1|GYS2|C|Glycogen synthase-2, liver||138571|A, Fd|||Glycogen storage disease, type 0, 240600 (3)| | ||
12.169|8|8|13|12p12.2|PDE3A|P|Phosphodiesterase 3A, cGMP-inhibited||123805|REc|||| | ||
12.170|1|18|12|12p12.2|SLCO1B3, OATP8, OATP1B3, SLC21A8, HBLRR|P|Solute carrier organic anion transporter family, member 1B3||605495|REc|HBLRR digenic wieht SLCO1B1||Hyperbilirubinemia, Rotor type, digenic, 237450 (3)| | ||
12.171|6|21|04|12p12.2-p12.1|HYT4|P|Hypertension, essential, susceptibility to, 4||608742|Fd|||{Hypertension, essential, susceptibility to, 4}, 145500 (2)| | ||
12.172|7|27|11|12p12.1|LDHB, LDHBD|C|Lactate dehydrogenase B||150100|S, D, Fd|||Lactate dehydrogenase-B deficiency, 614128 (3)| | |6(Ldh2)|
12.173|9|9|96|12p12.2-p11.2|HTNB|C|Hypertension with brachydactyly||112410|Fd|||Hypertension with brachydactyly (2)| | ||
12.174|7|6|12|12p12.1|ABCC9, SUR2, CMD1O, ATFB12, CANTU|P|ATP-binding cassette, subfamily C, member 9 (sulfonylurea receptor 2)||601439|A|||Cardiomyopathy, dilated, 1O, 608569 (3); Atrial fibrillation,|familial, 12, 614050 (3); Hypertrichotic osteochondrodysplasia, 239850 (3) | ||
12.175|4|19|06|12p12.1|CMAS|P|Cytidine monophosphate N-acetylneuraminic acid synthetase||603316|REn|||| | ||
12.176|3|7|13|12p12.1|GOLT1B, GOT1B, GCT2|P|Golgi transport 1B||615078|REc|||| | ||
12.177|6|20|13|12p12.1|KRAS, KRAS2, RASK2, NS, CFC2|C|Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog||190070|REa, A, Fd|pseudogene KRAS1P on 6p12-p11||Lung cancer, somatic, 211980 (3); Bladder cancer, somatic, 109800|(3); Pancreatic carcinoma, somatic, 260350 (3); Gastric cancer, somatic, 137215 (3); Leukemia, acute myelogenous (3); Noonan syndrome 3, 609942 (3);|Cardiofaciocutaneous syndrome 2, 615278 (3); Breast cancer, somatic, 114480 (3); SFM syndrome, somatic mosaic, 163200 (3)|6(Kras2)|
12.178|9|7|12|12p12.1|RASSF8, C12orf2|P|RAS association domain family, member 8||608231|REc|||| | ||
12.179|1|29|01|12p12.1|SOX5|P|SRY-box 5||604975|A, H|||| | |6(Sox5)|
12.180|8|24|09|12p12.1|BHLHE41, BHLHB3, DEC2, SHARP1|P|Basic helix-loop-helix domain-containing protein, member E41||606200|A|||[Short sleeper], 612975 (3)| | |6(Dec2)|
12.181|3|20|06|12p12.1|ETNK1, EKI1|P|Ethanolamine kinase 1||609858|REc|||| | |12(Etnk1)|
12.182|3|22|06|12p12.1|DADR|P|DAD1-related gene||609860|A|||| | ||
12.183|4|27|10|12p11.22|PTHLH, BDE2|P|Parathyroid hormone-like hormone||168470|REa, A|||Humoral hypercalcemia of malignancy (1); Brachydactyly, type E2,|613382 (3) | |6(Pthlh)|
12.184|3|14|96|12p12.1|SIAT8|C|Sialyltransferase-8 (alpha-N-acetylneuraminate:|alpha-2,8-sialytransferase, GD3 synthase)|601123|Psh, A|||| | |6(Siat8)|
12.185|7|6|00|12q13.13|TARBP2|P|TAR RNA-binding protein 2||605053|Psh|pseudogene on 8q22-qter||| | |15(Tarbp2)|
12.186|9|15|98|12p12.1|BCAT1, BCT1|C|Branched chain aminotransferase-1, cytosolic||113520|S, H|||?Hyperleucinemia-isoleucinemia or hypervalinemia (1)| | |6(Bcat1)|
12.187|8|30|01|12p13.2|BCLG|P|Apoptosis regulator BCLG||606126|REc|||| | ||
12.188|6|10|04|12p12.3|CAPZA3, CAPPA3|P|Capping protein, actin, alpha-3||608722|REc|||| | |6(Capza3)|
12.189|6|27|12|12p13.2|DUSP16, MKP7, KIAA1700|P|Dual-specificity phosphatase 16||607175|REc|||| | ||
12.190|6|11|11|12p13.1|GRIN2B, NMDAR2B, MRD6|P|Glutamate receptor, ionotropic, N-methyl D-aspartate 2B||138252|A, REa|||Mental retardation, autosomal dominant 6, 613970 (3)| | |6(Nmdar2b)|
12.191|5|29|12|12p13.1-p12.3|GUCY2C, GUC2C, DIAR6, MECIL|P|Guanylate cyclase 2C (heat stable enterotoxin receptor)||601330|A|||Diarrhea 6, 614616 (3); Meconium ileus, 614665 (3)| | |6(Gucy2c)|
12.192|8|25|09|12p12.3|PEPP2, KIAA1686|P|Phosphatidylinositol 3-phosphate-binding PH domain protein 2||607770|R, REc|||| | ||
12.193|11|2|04|12p12.3|PIK3C2G|P|Phosphatidylinositol 3-kinase, class 2, gamma||609001|A, H|||| | |6(Pik3c2g)|
12.194|3|23|09|12p12.3|RERG|P|Ras-like and estrogen-regulated growth inhibitor||612664|REc|||| | ||
12.195|9|23|96|12p12.3|SKP1B|P|S-phase kinase-associated protein 1B (p19B)||601435|A|||| | ||
12.196|1|13|99|12p12.1|SLC21A3, OATP|C|Solute carrier family 21 (organic anion transporter), member 3||602883|Psh, A|||| | ||
12.197|1|18|12|12p12.2-p12.1|SLCO1B1, LST1, OATP2, OATPC, OATP1B1, HBLRR|P|Solute carrier organic anion transporter family, member 1B1||604843|R, REn|HBLRR digenic with SLCO1B3||Hyperbilirubinemia, Rotor type, digenic, 237450 (3)| | ||
12.198|6|7|10|12p12.2|SLCO1C1, OATPF, OATP14, SLC21A14|P|Solute carrier organic anion transporter family, member 1C1||613389|REc|||| | ||
12.199|3|14|06|12p13.31|ZNF384, CIZ, CAGH1, NMP4|P|Zinc finger protein 384||609951|REc, H|||| | |6(Znf384)|
12.200|6|13|95|12p12.1|RECQL|P|RecQ protein-like (DNA helicase Q1-like)||600537|Psh, A|||| | ||
12.201|11|19|13|12p11.21|CAPRIN2, C1QDC1, EEG1, KIAA1873|P|Caprin family, member 2||610375|REc|||| | ||
12.202|1|1|12|12p11.21|DNM1L, DRP1, DVLP, DYMPLE, EMPF|P|Dynamin 1-like||603850|R, REc|||Encephalopahty, lethal, due to defective mitochondrial peroxisomal|fission, 614388 (3) | ||
12.203|6|4|13|12p11.21|METTL20, C12orf72|P|Methyltransferase-like 20||615256|REc|||| | ||
12.204|9|17|10|12p11.21|YARS2, TYRRS, MLASA2|P|Tyrosyl-tRNA synthetase 2||610957|R, REc|||Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)| | ||
12.205|3|29|12|12p11.23|ARNTL2, BMAL2, CLIF|P|Aryl hydrocarbon receptor nuclear translocator-like protein 2||614517|A, REc|||| | ||
12.206|3|7|13|12p11.23|ASUN, MAT89BB, GCT1|P|Asunder, spermatogenesis regulator||615079|REc|||| | ||
12.207|6|4|02|12p12.1|KCNJ8|P|Potassium inwardly-rectifying channel, subfamily J, member 8||600935|A|||?Prinzmetal angina (1)| | ||
12.208|7|22|09|12p11.23|MED21, SURB7, SRB7|P|Mediator complex subunit 21||603800|REc|||| | ||
12.209|6|2|98|12p11.23-q13.12|AD5|P|Alzheimer disease, familial, type 5||602096|Fd|||Alzheimer disease-5, 104300 (2)| | ||
12.210|9|22|08|12p11.22|ERGIC2, CDA14, PTX1|P|Endoplasmic reticulum-golgi intermediate compartment protein 2||612236|Psh, REc|||| | ||
12.211|3|15|07|12p11.22|REP15|P|Rab15 effector protein||610848|R, REc|||| | ||
12.212|7|2|07|12p11.21|FGD4, FRABIN, CMT4H|C|FYVE, RhoGEF, and PH domain-containing protein 4||611104|R, Fd|||Charcot-Marie-Tooth disease, type 4H, 609311 (3)| | ||
12.213|1|26|97|12p12.1|SSPN, KRAG|P|Sarcospan (Kirsten-ras associated gene)||601599|A|||| | ||
12.214|5|28|98|12p11.21|BICD1|P|Bicaudal-D, Drosophila, homolog of, 1||602204|REc|second homolog on 9q||| | ||
12.215|1|18|13|12p11.2-q13.1|ARCI7|P|Ichthyosis, congenital, autosomal recessive 7||615022|Fd|between D12S345 and D12S390||Ichthyosis, congenital, autosomal recessive 7, 615022 (3)| | ||
12.216|2|17|09|12p11.2-q14|STQTL3|P|Stature quantitative trait locus 3||606257|Fd|max lod at D12S398 and D12S10990||{Stature QTL 3} (2)| | ||
12.217|11|29|11|12p11.1|ALG10, KCR1|P|Alg10, S. cerevisiae, homolog of||603313|REc|||{Acquired long QT syndrome, reduced susceptibility to}, 613688 (3)| | ||
12.218|4|27|12|12p11.1-q14|SPG26|P|Spastic paraplegia 26||609195|Fd|between D12S59 and D12S1676||Spastic paraplegia 26, autosomal recessive (2)| | ||
12.219|11|14|12|12p11.1-q21.1|ECTD7|P|Ectodermal dysplasia 7, hair/nail type||614929|Fd|between D12S2080 and D12S1040||Ectodermal dysplasia 7, hair/nail type (2)| | ||
12.220|6|14|10|12p11.21|DDX11, CHLR1, KRG2|P|DEAD/H box-11 (CHL1-related helicase gene-1)||601150|Psh, A|||Warsaw breakage syndrome, 613398 (3)| | ||
12.221|1|24|13|12p11.21|FAM60A|P|Family with sequence similarity 60, member A||615027|REc|||| | ||
12.222|10|15|94|12p12.1-p11.2|ITPR2|P|Inositol 1,4,5-triphosphate receptor, type 2||600144|A|||| | ||
12.223|7|9|09|12p13.33|KDM5A, JARID1A, RBP2, RBBP2|P|Lysine(K)-specific demethylase 5A||180202|Psh, A|||| | ||
12.224|12|30|04|12p11.21|PKP2, ARVD9|C|Plakophilin-2||602861|A, Psh|pseudogene on 12p13||Arrhythmogenic right ventricular dysplasia 9, 609040 (3)| | ||
12.225|9|9|13|12p11-q13|VUR7|P|Vesicoureteral reflux 7||615390|Fd|max lod at D12S1048||Vesicoureteral reflux 7 (2)| | ||
12.226|1|28|88|12p|KAR|L|Aromatic alpha-keto acid reductase||107920|S|?same as MDH1||| | ||
12.227|2|23|12|12p13.32|NDUFA9|P|NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 9||603834|REc|||Leigh syndrome due to mitochondrial complex I deficiency, 256000|(3) | ||
12.228|5|7|03|12q21.2|OSBPL8, ORP8, KIAA1451|C|Oxysterol-binding protein-like protein 8||606736|R, REc|||| | ||
12.229|5|4|12|12p|PKS|P|Pallister-Killian syndrome||601803|Ch|||Pallister-Killian syndrome (4)| | ||
12.230|11|30|98|12p13.31|VAMP1, SYB1|P|Vesicle-associated membrane protein-1 (synaptobrevin-1)||185880|REa|||| | |6(Syb1)|
12.231|5|15|95|12q21.2|SYT1|C|Synaptotagmin-1||185605|REa, H|||| | |10(Syt1)|
12.232|8|20|08|12q|CODA|P|Cavitary optic disc anomalies||611543|Fd|max lod at D12S1700||Cavitary optic disc anomalies (2)| | ||
12.233|6|2|99|12q23.1|FXR, RIP14|L|Farnesoid X-activated receptor||603826|H|||| | |10(Fxr)|
12.234|7|8|10|12q|IHPS1, IHPS|P|Pyloric stenosis, infantile hypertrophic 1||179010|Fd|||Pyloric stenosis, infantile hypertrophic 1 (2)| | ||
12.235|6|25|99|12q24.13|RPL6|P|Ribosomal protein L6||603703|Psh, R|||| | ||
12.236|3|29|10|12q13.2|RPS26, DBA10|P|Ribosomal protein S26||603701|Psh, R|||Diamond-Blackfan anemia 10, 613309 (3)| | ||
12.237|5|4|00|12q24.31|SIRT4, SIR2L4|P|Sirtuin, S. cerevisiae, homolog 4||604482|REc|||| | ||
12.238|5|22|03|12q13.13|SMUG1|P|Single-strand-selective monofunctional uracil-DNA glycosylase 1||607753|REc|||| | ||
12.239|1|2|08|12q12|ADAMTS20|P|A disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 20|611681|REc|||| | ||
12.240|10|29|99|12q12|ABCD2, ALDR, ALDL1|P|ATP-binding cassette, subfamily D, member 2||601081|A, Psh|||| | |15(Aldl1)|
12.241|1|24|09|12q12|CNTN1|P|Contactin 1||600016|A|||Myopathy, congenital, Compton-North, 612540 (3)| | ||
12.242|1|31|01|12p11.23|TM7SF3|P|Transmembrane 7 superfamily, member 3||605181|A, R|||| | ||
12.243|1|25|93|12q13.13|ITGA5, FNRA, VLA5A|C|Integrin, alpha-5 (fibronectin receptor, alpha subunit; very late|activation protein-5, alpha subunit)|135620|REa, A|||| | |15(Itga5)|
12.244|6|7|95|12q13.13|KRT2, KRT2A, KRT2E|P|Keratin 2||600194|Fd|||Ichthyosis bullosa of Siemens, 146800 (3)| | ||
12.245|1|7|95|12q11-q13|PPKB|P|Palmoplantar keratoderma, Bothnia type||600231|Fd|||Palmoplantar keratoderma, Bothnia type (2)| | ||
12.246|3|3|09|12q13.11-q13.12|CCNT1, CCNT|P|Cyclin T1||143055|R, REc|||| | ||
12.247|12|11|97|12q13.13|ACVRL1, ACVRLK1, ALK1, HHT2|C|Activin A receptor, type II-like kinase 1||601284|REc|||Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)| | ||
12.248|1|13|99|12q13.12|ACCN2|P|Cation channel, amiloride-sensitive, neuronal, 2||602866|A|||| | ||
12.249|9|15|11|12q12|ANO6, TMEM16F, SCTS, BDPLT7|P|Anoctamin 6||608663|REc|||Scott syndrome, 262890 (3)| | |15(Tmem16f)|
12.250|3|29|10|12q12|GXYLT1, GLT8D3|P|Glucoside xylosyltransferase 1||613321|REc|||| | ||
12.251|3|8|07|12q12|IRAK4, REN64, IPD1|P|Interleukin 1 receptor-associated kinase 4||606883|REc|||IRAK4 deficiency, 607676 (3); Invasive pneumococcal disease,|recurrent isolated, 1, 610799 (3) | ||
12.252|2|17|10|12q12|KIF21A, KIAA1708, FEOM1, CFEOM1, CFEOM3B|C|Kinesin family member 21A||608283|Fd, REc|||Fibrosis of extraocular muscles, congenital, 1, 135700 (3);|Fibrosis of extraocular muscles, congenital, 3B, 135700 (3) | |15(Kif21a)|
12.253|11|3|04|12q12|LRRK2, PARK8|C|Leucine-rich repeat kinase 2 (dardarin)||609007|Fd, REc|||Parkinson disease 8, 607060 (3)| | ||
12.254|7|31|08|12q12|MUC19|P|Mucin 19, oligomeric||612170|REc|||| | |15(Muc19)|
12.255|12|28|08|12q12|PDZRN4|P|PDZ domain-containing ring finger protein 4||609730|REc|||| | ||
12.256|7|9|06|12q13.13|PFDN5, MM1|P|Prefoldin 5||604899|R|||| | ||
12.257|3|22|07|12q12|PPHLN1|P|Periphilin 1||608150|REc|||| | ||
12.258|12|24|08|12q12|PRICKLE1, RILP, EPM1B|C|Prickle-like 1||608500|REc|||Epilepsy, progressive myoclonic 1B, 612437 (3)| | |15(Prickle1)|
12.259|8|20|07|12q12|SLC2A13, HMIT|P|Solute carrier family 2 (facilitated glucose transporter), member 13||611036|R, REc|||| | ||
12.260|4|19|07|12q12|TWF1, PTK9|P|Twinfilin, Drosophila, homolog of, 1||610932|R, REc|||| | ||
12.261|2|12|07|12q12|ZCRB1, MADP1|P|Zinc finger CCHC domain- and RNA-binding motif-containing protein 1||610750|REc|possible pseudogenes on chr16, X, and 6||| | ||
12.262|1|30|95|12q13.12|ADCY6|C|Adenylate cyclase-6||600294|A, REa|||| | |15(Adcy6)|
12.263|10|1|95|12q13.2|CD63, MLA1|P|CD63 antigen (melanoma 1 antigen)||155740|REa, A|||| | |10(Cd63)|
12.264|2|21|12|12q13.12|GPD1, HTGTI|C|Glycerol-3-phosphate dehydrogenase, soluble||138420|S, R|||Hypertriglyceridemia, transient infantile, 614480 (3)| | |15(Gdc1)|
12.265|5|27|05|12q13.12|PRPH|P|Peripherin||170710|A|||{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)| | |15(Prph)|
12.266|10|1|95|12q13.12|TEGT|P|Testis enhanced gene transcript||600748|REa, A|||| | |15(Tegt)|
12.267|6|25|99|12q13.3|TIMELESS, TIM, TIM1|P|Timeless, Drosophila, homolog of||603887|A, R, H|||| | |10(Tim)|
12.268|5|6|13|12q13.12|WNT1, INT1, OI15, BMND16|C|Wingless-type MMTV integration site family, member 1 (oncogene INT1)||164820|REa, A|||Osteogenesis imperfecta, type XV, 615220 (3); {Osteoporosis,|early-onset, susceptibility to, autosomal dominant}, 615221 (3) | |15(Int1, Wnt1)|
12.269|2|1|11|12q12|SCAF11, SFRS2IP, SIP1, CASP11, SRRP129|P|SR-related C-terminal domain-associated factor 11||603668|REc|previously assigned to 21q22.3||| | ||
12.270|4|30|04|12q12-q13.3|CMT2G|P|Charcot-Marie-Tooth disease, axonal, type 2G||608591|Fd|between D12S1663 and D12S1644||Charcot-Marie-Tooth disease, axonal, type 2G (2)| | ||
12.271|12|13|95|12q13.13|KRT7|P|Keratin 7||148059|REa, A|||| | ||
12.272|1|26|12|12q13.12|MLL2, ALR, KABUK1|P|Myeloid/lymphoid or mixed-lineage leukemia 2||602113|Psh, R|||Kabuki syndrome 1, 147920 (3)| | ||
12.273|12|17|07|12q13.12|TUBA1A, TUBA3, LIS3|P|Tubulin, alpha-1A||602529|REc|||Lissencephaly 3, 611603 (3)| | ||
12.274|11|16|05|12q13.11|VDR|P|Vitamin D (1,25-dihydroxyvitamin D3) receptor||601769|REa, A|||Rickets, vitamin D-resistant, type IIA, 277440 (3);|?Osteoporosis, involutional, 166710 (1) | ||
12.275|2|28|07|12q12-q21|RLS1|P|Restless legs syndrome, susceptibility to, 1||102300|Fd|between D12S1044 and D12S78||{Restless legs syndrome 1} (2)| | ||
12.276|11|1|00|12q13.13|AAAS, AAA|C|Aladin||605378|Fd, REc|||Achalasia-addisonianism-alacrimia syndrome, 231550 (3)| | ||
12.277|4|26|01|12q13.13|ACVR1B, ACVRLK4, ALK4|C|Activin A receptor, type IB||601300|REa, A|||Pancreatic cancer, somatic (3)| | ||
12.278|8|21|98|12q13.13|AMHR2, AMHR|P|Anti-Mullerian hormone receptor, type II||600956|A|||Persistent Mullerian duct syndrome, type II, 261550 (3)| | |15(Amhr)|
12.279|11|16|05|12q13.12|AQP2|C|Aquaporin-2 (collecting duct)||107777|A|||Diabetes insipidus, nephrogenic, 125800 (3)| | ||
12.280|11|5|97|12q13.12|AQP6, AQP2L|C|Aquaporin-6, kidney specific||601383|Psh, A|||| | ||
12.281|10|7|13|12q13.12|AQP5, PPKB|P|Aquaporin-5||600442|A|||Palmoplantar keratoderma, Bothnian type, 600231 (3)| | |15(Aqp2)|
12.282|5|6|98|12q13.12|ARF3|C|ADP-ribosylation factor-3||103190|REc, A|||| | ||
12.283|1|31|13|12q13.11|ASB8|P|Ankyrin repeat- and SOCS box-containing protein 8||615053|R, REc|||| | ||
12.284|2|1|01|12q13.12|ATF1, TREB36|C|Activating transcription factor 1||123803|A, Ch|fused with EWS in soft tissue clear cell sarcoma, with FUS in|angiomatoid fibrous histiocytoma|| | ||
12.285|10|6|09|12q13|BCC4|P|Basal cell carcinoma, susceptibility to, 4||613061|Fd|associated with rs11170164||{Basal cell carcinoma, susceptibility to, 4} (2)| | ||
12.286|5|13|13|12q13.12|C1QL4, CTRP11|P|Complement component 1, q subcomponent-like 4||615229|REc|||| | |5(C1ql4)|
12.287|7|17|13|12q13.13|C12orf10, MYG1|P|Chromosome 12 open reading frame 10||611366|REc|||| | ||
12.288|10|19|97|12q13.12|CACNB3|P|Calcium channel, voltage-dependent, beta 3 subunit||601958|A|||| | ||
12.289|5|19|94|12q13.2|CDK2|P|Cyclin-dependent kinase 2||116953|A|||| | ||
12.290|9|2|12|12q13.13|CELA1, ELA1|C|Chymotrypsin-like elastase family, member 1||130120|REa, A, REc|on proximal 12p||| | |15(Ela1)|
12.291|8|23|07|12q13.2|ERBB3, LCCS2|C|Transformation gene ERBB-3||190151|A|||Lethal congenital contractural syndrome 2, 607598 (3)| | ||
12.292|3|10|09|12q13.13|ESPL1, ESP1|P|Extra spindle poles-like 1||604143|REc|prev. mapping to chr.8||| | ||
12.293|7|20|04|12q13.12|FAIM2, LFG, NMP35|C|FAS apoptotic inhibitory molecule 2||604306|Psh, A, REc|||| | ||
12.294|5|26|13|12q13.12|FKBP11, FKBP19|P|FK506-binding protein 11||610571|REc|||| | ||
12.295|1|27|04|12q13.13|GALNT6, GalNAcT6|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 6|605148|A|||| | ||
12.296|5|19|09|12q13.3|GLS2, GA|P|Glutaminase, liver||606365|R, REc|||| | ||
12.297|3|30|12|12q14.3|HELB, HDHB|P|Helicase, DNA, B||614539|REc|||| | ||
12.298|2|4|02|12q13.3|HSE|P|3-alpha-hydroxysteroid epimerase||606623|A|||| | ||
12.299|2|26|93|12q13.13|HOXC4, HOX3E|C|Homeo box-C4||142974|RE|||| | ||
12.300|2|26|93|12q13.13|HOXC5, HOX3D|C|Homeo box-C5||142973|RE|||| | |15(Hox6.2)|
12.301|2|26|93|12q13.13|HOXC6, HOX3C|C|Homeo box-C6||142972|RE|||| | |15(Hox6.1)|
12.302|2|26|93|12q13.13|HOXC8, HOX3A|C|Homeo box-C8||142970|RE|||| | |15(Hox3.1)|
12.303|2|26|93|12q13.13|HOXC9, HOX3B|C|Homeo box-C9||142971|RE|||| | |15(Hox3.2)|
12.304|2|26|93|12q13.13|HOXC12, HOX3F|C|Homeo box-C12||142975|RE|||| | ||
12.305|11|19|12|12q13.13|HOXC13, HOX3G, ECTD9|C|Homeo box-C13||142976|RE|fused with NUP98 in AML||Ectodermal dysplasia 9, hair/nail type, 614931 (3)| | ||
12.306|12|9|91|12q13|HPV18I2|C|Human papillomavirus type 18 integration site-2||167960|REa, A|on 8 near MYC in HeLa||| | ||
12.307|8|29|08|12q13.11|HRG1|P|Heme-responsive gene 1||612187|REc|||| | ||
12.308|9|10|07|12q13.2|IKZF4, ZNFN1A4, EOS, KIAA1782|P|Ikaros family zinc finger 4||606239|R, REc|||| | ||
12.309|2|2|10|12q13.2|ITGA7|P|Integrin, alpha-7||600536|A|||Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)| | ||
12.310|8|27|01|12q13.12|KCNH3, BEC1|C|Potassium voltage-gated channel, subfamily H (eag-related), member 3||604527|REc|||| | ||
12.311|4|27|12|12q13.3|KIF5A, NKHC, SPG10|C|Kinesin family member 5A||602821|A, REc, Fd|||Spastic paraplegia 10, autosomal dominant, 604187 (3)| | |2(Nkhc)|
12.312|2|3|12|12q13.13|KRT1, EPPK, NEPPK, EHK|C|Keratin 1||139350|H, REa, A|close to Hox-3 in mouse; class II keratin||Epidermolytic hyperkeratosis, 113800 (3); Ichthyosis, cyclic, with|epidermolytic hyperkeratosis, 607602 (3); Ichthyosis histrix, Curth-Macklin type, 146590 (3); Palmoplantar keratoderma, nonepidermolytic, 600962 (3);|Palmoplantar keratoderma, epidermolytic, 144200 (3); Keratosis palmoplantaris striata III, 607654 (3)|15(Krt2)|Chipev (1992); Compton (1992)
12.313|10|27|97|12q13.13|KRT3|C|Keratin 3||148043|A, Fd, R|||Meesmann corneal dystrophy, 122100 (3)| | ||
12.314|10|27|97|12q13.13|KRT4, CYK4|C|Keratin 4||123940|REa, A|a class II keratin; probably in cluster with other keratin genes||White sponge nevus, 193900 (3)| | ||
12.315|11|1|13|12q13.13|KRT5, DDD1|C|Keratin 5||148040|A, Fd|||Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3);|Epidermolysis bullosa simplex, Koebner type, 131900 (3); Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3); Epidermolysis bullosa simplex-MP,|131960 (3); Dowling-Degos disease 1, 179850 (3); Epidermylysis bullosa simplex-MCR, 609352 (3); Epidermolysis bullosa simplex, recessive 1, 601001 (3)||Bonifas (1991); McKenna (1992)
12.316|10|27|97|12q13.13|KRT6A|P|Keratin 6A||148041|REa, A|||Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 (3)| | ||
12.317|5|3|00|12q13.13|KRT6B, PC2|P|Keratin 6B||148042|REa|||Pachyonychia congenita, Jackson-Lawler type, 167210 (3)| | ||
12.318|11|5|13|12q13.13|KRT8|P|Keratin 8||148060|Psh|||Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic,|susceptibility to}, 215600 (3) | ||
12.319|12|5|13|12q13.13|KRT18|C|Keratin 18||148070|REn, A|contiguous to KRT8, type II heteromer partner||Cirrhosis, cryptogenic, 215600 (3); {Cirrhosis, noncryptogenic,|susceptibility to}, 215600 (3) | ||
12.320|3|6|08|12q13.13|KRT71, K6IRS1, KRT6IRS1|P|Keratin 71||608245|REc|||| | ||
12.321|3|22|07|12q13.13|KRT72, K6IRS2, KRT6IRS2|P|Keratin 72||608246|REc, REn|||| | ||
12.322|3|22|07|12q13.13|KRT73, K6IRS3, KRT6IRS3|P|Keratin 73||608247|REc, REn|||| | ||
12.323|6|15|11|12q13.13|KRT74, K6IRS4, KRT6IRS4, HTSS2|P|Keratin 74||608248|REc|||Woolly hair, autosomal dominant, 194300 (3); Hypotrichosis simplex|of the scalp 2, 613981 (3) | ||
12.324|10|9|08|12q13.13|KRT75, K6HF, PFB|P|Keratin 75||609025|REc|||{Pseudofolliculitis barbae, susceptibility to}, 612318 (3)| | ||
12.325|3|7|08|12q13.13|KRT81, KRTHB1, HB1|P|Keratin 81||602153|A, Fd|||Monilethrix, 158000 (3)| | ||
12.326|3|7|08|12q13.13|KRT83, KRTHB3, HB3|P|Keratin 83||602765|REc|||Monilethrix, 158000 (3)| | ||
12.327|12|17|12|12q13.13|KRT85, KRTHB5, HB5, ECTD4|P|Keratin 85||602767|REc|||Ectodermal dysplasia 4, hair/nail type, 602032 (3)| | ||
12.328|3|7|08|12q13.13|KRT86, KRTHB6, HB6|C|Keratin 86||601928|A, Fd|||Monilethrix, 158000 (3)| | ||
12.329|12|18|02|12q13.2|LACRT|P|Lacritin||607360|A|||| | ||
12.330|10|23|87|12q13.11|LALBA|P|Lactalbumin, alpha||149750|REa, A|||| | ||
12.331|10|12|10|12q13.12|LIMA1, EPLIN, SREBP3|P|LIM domain and actin-binding protein 1||608364|REc|||| | ||
12.332|2|2|01|12q14.1|METTL1|P|Methyltransferase-like 1||604466|R|||| | ||
12.333|8|6|13|12q13.3|MIP, AQP0, CTRCT15|C|Major intrinsic protein of lens fiber||154050|REa, A|slightly distal to AQP2||Cataract 15, multiple types, 615274 (3)| | |10(Mip)|
12.334|3|23|09|12q13.13|MIR196A2, MIRN196A2|P|Micro RNA 196A2||609687|REc|||| | ||
12.335|1|2|08|12q13.2|NEUROD4, ATH3|P|Neurogenic differentiation 4||611635|R, REc|||| | |10(Neurod4)|
12.336|10|15|94|12q13.13|NFE2|C|Nuclear factor, erythroid-derived 2, 45kD||601490|A, H|||| | |15(Nfe2)|
12.337|9|15|99|12q13.13|MAP3K12, ZPK|P|Mitogen-activated protein kinase kinase kinase 12||600447|REa, A|||| | ||
12.338|9|7|90|12q13.13|NR4A1, HMR, NP10, GFRP1|P|Nuclear receptor subfamily 4, group A, member 1||139139|A|||| | |15(np10)|
12.339|4|14|05|12q13.12|NRAMP2|P|Natural resistance-associated macrophage protein 2||600523|A|||Anemia, hypochromic microcytic, 206100 (3)| | |15(Nramp2, mk)|
12.340|12|28|08|12q13.3-q14.1|OS9|C|Amplified in osteosarcoma 9||609677|REc, Psh, A|||| | ||
12.341|6|4|98|12q13.2|PA2G4|P|Proliferation-associated 2G4, 38kD||602145|A|family of genes on 7 chromosomes||| | ||
12.342|9|28|98|12q13.2|PDE1B1, PDES1B, PDE1B|C|Phosphodiesterase-1B||171891|Psh, REc|||| | |15(Pde1b)|
12.343|12|3|13|12q13.3|APOF, LTIP|P|Apolipoprotein F||107760|REc, Psh|||| | ||
12.344|11|5|97|12q13.3|PRIM1|P|Primase, polypeptide-1, 49kD||176635|Psh, A, REc, H|||| | |10(Prim1)|
12.345|8|18|99|12q13.2|RAB5B|P|Ras-associated protein RAB5B||179514|A|||| | ||
12.346|8|11|91|12q13.13|RARG|C|Retinoic acid receptor, gamma polypeptide||180190|A, REa|||| | |15(Rarg)|
12.347|9|8|11|12q13.2|SARNP, CIP29, HCC1, HSPC316|P|SAP domain-containing ribonucleoprotein||610049|REc|fused with MLL in AML||| | ||
12.348|4|2|12|12q13.13|SCN8A, CIAT, EIEE13|P|Sodium channel, voltage gated, type VIII, alpha polypeptide||600702|REa, A|candidate gene for neurodegenerative disease||Cognitive impairment with or without cerebellar ataxia, 614306 (3);|Epileptic encephalopathy, early infantile, 13, 614558 (3) | |2(med, Scn8a)|
12.349|7|13|93|12q13.3|SHMT2, GLYA|C|Serine hydroxymethyltransferase||138450|S, R, A|glycine A auxotroph||| | ||
12.350|8|18|99|12q14.1|SLC16A7, MCT2|P|Solute carrier family 16 (monocarboxylic acid transporters), member 7||603654|REa, A|||| | ||
12.351|8|29|03|12q13.11|SLC38A4, NAT3, ATA3|C|Solute carrier family 38 (amino acid transporter), member 4||608065|REc, Psh, A|||| | ||
12.352|9|9|03|12q13.13|SOAT2, ACACT2|P|Sterol O-acyltransferase 2||601311|REc|||| | ||
12.353|6|10|98|12q13.3|STAT6|C|Signal transducer and activator of transcription-6, interleukin-4|induced|601512|A, H, REc|||| | |10(Stat6)|
12.354|4|24|96|12q13.12-q13.13|TFCP2|C|Transcription factor CP2, alpha globin||189889|REa, H, A|||| | ||
12.355|8|24|09|12q13.12|WNT10B, SHFM6|P|Wingless-type MMTV integration site family, member 10B||601906|A|||Split-hand/foot malformation 6, 225300 (3)| | ||
12.356|10|18|96|12q13.2|GCN5L1|P|GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1||601444|A|||| | ||
12.357|3|11|03|12p11.21|IPO8, RANBP8|P|Importin 8||605600|R|||| | ||
12.358|5|28|99|12q14.2|PABPL2|P|Poly(A)-binding protein-like 2||604681|A|?pseudogenes on 3q and 13q||| | ||
12.359|6|2|99|12q13.2|RDH5|P|Retinol dehydrogenase-5||601617|REa, A|||Fundus albipunctatus, 136880 (3)| | ||
12.360|8|31|98|12q13.2|SILV, D12S53E, PMEL17|P|Silver, mouse, homolog of||155550|REa|||| | |10(si)|
12.361|6|25|99|12q13.2|SMARCC2, BAF170|P|SW1/SNF related, matrix associated, actin dependent regulator of|chromatin, subfamily c, member 2|601734|Psh, R|||| | ||
12.362|6|25|99|12q13.12|SMARCD1, BAF60A|P|SW1/SNF related, matrix associated, actin dependent regulator of|chromatin, subfamily d, member 1|601735|Psh, R|||| | ||
12.363|1|5|07|12q14.1|TSFM, COXPD3|C|Ts translation elongation factor, mitochondrial||604723|REa, A|||Combined oxidative phosphorylation deficiency 3, 610505 (3)| | ||
12.364|1|20|06|12q14.1|TSPAN31, SAS|P|Tetraspanin 31||181035|REa, A|||| | ||
12.365|1|11|07|12q13.3|MYO1A, DFNA48|C|Myosin IA||601478|A, Fd|||Deafness, autosomal dominant 48, 607841 (3)| | |10(Myo1a)|
12.366|6|2|98|12q15|YEATS4, GAS41|P|YEATS domain-containing protein 4||602116|REc|||| | ||
12.367|9|30|95|12q13-q21|ENUR2|P|Enuresis, nocturnal, 2||600808|Fd|||Enuresis, nocturnal, 2 (2)| | ||
12.368|9|28|12|12q13.3|TAC3, NKNB, HH10|P|Tachykinin 3 (neuromedin K, neurokinin B)||162330|REa, A|||Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3)| | ||
12.369|3|18|94|12q24.33|ZNF10, KOX1|C|Zinc finger protein-10 (KOX 1)||194538|REa|same 300kb fragment as ZNF26||| | ||
12.370|12|21|03|12q13.2|DCD|C|Dermcidin||606634|R|||| | ||
12.371|11|30|06|12q13.12|DDN, KIAA0749|P|Dendrin||610588|R, REc|||| | ||
12.372|8|14|09|12q13.12|DHH, SRXY7, GDXYM|C|Desert hedgehog||605423|A|||46XY partial gonadal dysgenesis, with minifascicular neuropathy,|607080 (3); 46XY sex reversal 7, 233420 (3) | ||
12.373|4|25|93|12q13.1-q13.2|HEM1|P|Hematopoietic protein-1||141180|REb, A|||| | ||
12.374|11|5|13|12q13.13|HNRNPA1, IBMPFD3, ALS20|P|Heterogeneous nuclear ribonucleoprotein A1||164017|A|mutation identified in 1 family with IBMPFD3||?Inclusion body myopathy wtih early-onset Paget disease without|frontotemporal dementia 3, 615424 (3); Amyotrophic lateral sclerosis 20, 615426 (3)| ||
12.375|1|27|97|12q13.3|INHBC|P|Inhibin, beta C||601233|A|||| | |10(Inhbc)|
12.376|1|13|99|12q13.12|PRKAG1|P|Protein kinase, AMP-activated, noncatalytic, gemma-1||602742|A|||| | ||
12.377|7|10|08|12q13.11|SENP1|P|Sentrin-specific protease family, member 1||612157|REc|||| | ||
12.378|11|4|93|12q13.13|SP1|C|Sp1 transcription factor||189906|REa, A|||| | |15(Sp1)|
12.379|10|12|10|12q13.3|DDIT3, GADD153, CHOP10|C|DNA-damage-inducible transcript-3||126337|REa, A, Ch|fused with FUS in myxoid liposarcoma||Myxoid liposarcoma, 613488 (1)| | ||
12.380|8|26|03|12q13.2|DRIP78, HDJ3|P|Dopamine receptor-interacting protein, 78kD||606092|REc|||| | ||
12.381|4|17|06|12q14.1|CYP27B1, VDD1, PDDR|C|Cytochrome P450, subfamily XXVIIB, polypeptide 1||609506|A, Fd|||Vitamin D-dependent rickets, type I, 264700 (3)| | ||
12.382|8|25|94|12q13.3|LRP1, A2MR|C|Low density lipoprotein-related protein-1 (alpha-2-macroglobulin|receptor)|107770|A|||| | |15(A2mr)|
12.383|9|30|13|12q13.11|ANP32D, PP32R2|P|Acidic leucine-rich nuclear phosphoprotein 32 family, member D||606878|REc|||| | ||
12.384|12|10|13|12q13.11|KANSL2, NSL2, C12orf41|P|KAT8 regulatory NSL complex, subunit 2||615488|REc|||| | |15(Kansl2)|
12.385|10|13|09|12q13.11|RPAP3|P|RNA polymerase II-associated protein 3||611477|REc|||| | ||
12.386|3|12|04|12q13.11|SLC38A1|P|Solute carrier family 38 (amino acid transporter), member 1||608490|REc, R|||| | ||
12.387|3|15|14|12q13.11|SLC38A2, ATA2, KIAA1382|P|Solute carrier family 38, member 2||605180|REc|||| | ||
12.388|12|10|13|12q13.11|SNORA34, ACA34, MIR1291|P|Small nucleolar RNA, H/ACA box, 34||615487|REc, REn|MIR1291 in intron of SNORA34||| | ||
12.389|5|16|11|12q13.11|ZNF641|P|Zinc finger ptoein 641||613906|REc|||| | ||
12.390|6|19|98|12q12|NELL2|P|Nel-like 2||602320|A|||| | ||
12.391|4|15|09|12q13.11|COL2A1|C|Collagen II, alpha-1 polypeptide||120140|REa, A|||Stickler syndrome, type I, 108300 (3); Kniest dysplasia, 156550 (3);|Achondrogenesis, type II or hypochondrogenesis, 200610 (3); SED congenita, 183900|(3); SMED Strudwick type, 184250 (3); Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3); Spondyloperipheral dysplasia, 271700 (3); SED, Namaqualand type (3); Osteoarthritis with mild chondrodysplasia, 604864 (3); Vitreoretinopathy with phalangeal epiphyseal dysplasia (3); Platyspondylic skeletal dysplasia, Torrance type, 151210 (3); Otospondylomegaepiphyseal dysplasia, 215150 (3); Avascular necrosis of the femoral head, 608805 (3); Legg-Calve-Perthes disease, 150600 (3); Stickler sydrome, type I, nonsyndromic ocular, 609508 (3); Czech dysplasia, 609162 (3)|15(Col2a1, seds)|
12.392|11|19|11|12q13.11-q15|MRT25|P|Mental retardation, autosomal recessive 25||614346|Fd|between rs4760658 and rs1882033||Mental retardation, autosomal recessive 25 (2)| | ||
12.393|11|11|13|12q13.12|CCDC65, CILD27|P|Coiled-coil domain-containing protein 65||611088|REc|||Ciliary dyskinesia, primary, 27, 615504 (3)| | ||
12.394|8|2|13|12q13.12|CERS5, LASS5, TRH4|P|Ceramide synthase 5||615335|REc|||| | ||
12.395|3|14|13|12q13.12|COX14, C12orf62|P|Cytochrome c oxidase assembly protein COX14||614478|REc, H|||Mitochondrial complex IV deficiency, 220110 (3)| | |15(C12orf62)|
12.396|8|27|08|12q13.12|DDX23, PRP28|P|Dead box polypeptide 23||612172|REc|||| | ||
12.397|8|29|07|12q13.12|DIP2B, KIAA1463|P|Disco-interacting protein 2, Drosophila, homolog of, B||611379|A, REc|||Mental retardation, FRA12A type, 136630 (3)| | ||
12.398|3|28|06|12q13.12|LMBR1L, LIMR, KIAA1174|P|Limb region 1 homolog-like||610007|R, REc|||| | ||
12.399|3|14|13|12q13.12|NCKAP5L, KIAA1602|P|NCK-associated protein 5-like||615104|REc|||| | ||
12.400|5|13|13|12q13.12|RCGAP1, MGCRACGAP, CYK4|P|GTPase-activating protein, Rac, 1||604980|R, REc|||| | ||
12.401|6|13|12|12q13.12|RND1, RHO6|P|Rho family GTPase 1||609038|REc, A|||| | ||
12.402|3|9|98|12q13.13|PCBP2|P|Poly(rC)-binding protein-2||601210|A|||| | ||
12.403|3|14|13|12q13.13|ATG101, C12orf44|P|Autophay-related protein 101||615089|REc|||| | ||
12.404|5|7|01|12q13.13|BIN2|P|Bridging integrator 2||605936|A, REc|previously mapped to 4q22.1||| | ||
12.405|5|25|13|12q13.13|EIF4B|P|Eukaryotic translation initiation factor 4B||603928|REc|||| | ||
12.406|3|8|04|12q13.2|GDF11, BMP11|P|Growth/differentiation factor 11||603936|R, REc|||| | ||
12.407|11|28|01|12q13.13|GPR84|P|G protein-coupled receptor 84||606383|REc|||| | |15(Gpr84)|
12.408|6|5|08|12q13.13|GRASP, TAMALIN|P|GRP1-associated scaffold protein||612027|R, REc|||| | ||
12.409|12|4|08|12q13.13|HOTAIR|P|Hox transcript antisense RNA||611400|R, REc|||| | ||
12.410|7|12|92|12q13.13|ITGB7|C|Integrin, beta-7||147559|REa, A|||| | |15(Itgb7)|
12.411|10|6|08|12q13.13|KRT6C|P|Keratin 6C||612315|REc|||| | ||
12.412|2|25|08|12q13.13|KRT77, K1B|P|Keratin 77||611158|REc|||| | ||
12.413|2|25|08|12q13.13|KRT78, K5B|P|Keratin 78||611159|REc|||| | ||
12.414|3|7|08|12q13.13|KRT79,  KRT6L, K6L|P|Keratin 79||611160|REc|||| | ||
12.415|2|28|08|12q13.13|KRT80, KB20|P|Keratin 80||611161|REc|||| | ||
12.416|11|13|13|12q13.13|KRT82, KRTHB2, HB2|P|Keratin 82||601078|REc|||| | ||
12.417|11|13|13|12q13.13|KRT84, KRTHB4, HB4|P|Keratin 84||602766|REc|||| | ||
12.418|5|13|11|12q13.13|MIR148B, MIRN148B|P|Micro RNA 148B||613787|REc|||| | ||
12.419|7|20|09|12q13.2|MYL6B, MLC1SA|P|Myosin, light chain 6B, alkali, smooth muscle and nonmuscle, slow||609930|R, REc|||| | ||
12.420|5|24|13|12q13.13|PRR13, TXR1|P|Proline-rich protein 13||610459|REc|||| | ||
12.421|2|2|12|12q13.13|SP7, OSX, OI12|P|Transcription factor Sp7||606633|A, H|||Osteogenesis imperfecta, type XII, 613849 (3)| | |15(Sp7)|
12.422|7|12|12|12q13.13|TENC1, C1TEN, KIAA1075|P|Tensin-like C1 domain-containing phosphatase||607717|R, REc|||| | ||
12.423|10|27|08|12q13.13|ZNF385A, ZNF385, RZF, HZF|P|Zinc finger protein 385A||609124|REc|||| | ||
12.424|2|6|09|12q13.3|IL23A, SGRF, P19, IL23P19|C|Interleukin 23, p19 subunit||605580|R, REc|||| | ||
12.425|2|25|09|12q14.1|LIRG3, LIG3|C|Leucine-rich repeats- and immunoglobulin-like domains-containing|protein 3|608870|A, H|||| | |10(Lrig3)|
12.426|3|1|06|12q13.2|MYL6|P|Myosin light chain 6, alkali, smooth muscle and nonmuscle||609931|R, REc|||| | ||
12.427|4|7|10|12q13.2|ORMDL2|P|ORM1-like protein 2||610074|REc|pseudogene on 8q22.1||| | ||
12.428|3|3|10|12q13.2|PPP1R1A, IPP1, I1|P|Protein phosphatase 1, regulatory subunit 1A||613246|REc|||| | ||
12.429|3|29|10|12q13.2|RPL41, HG12|P|Ribosomal protein L41||613315|REc|||| | ||
12.430|3|20|07|12q13.2|SBEM|P|Small breast epithelial mucin||610857|REc|||| | ||
12.431|12|17|07|12q13.12|SPATS2, SPATA10, P59SCR, SCR59|P|Spermatogenesis-associated serine-rich protein 2||611667|REc|||| | ||
12.432|3|22|06|12q13.3|STAT2|P|Signal transducer and activator of transcription 2||600556|R, REc|||| | ||
12.433|11|23|09|12q13.3|CS|C|Citrate synthase, mitochondrial||118950|S, D, REc|||| | |10(Cs)|
12.434|7|17|91|12q13.3|GLI|C|Glioma-associated oncogene homolog (zinc finger protein)||165220|REa, A|||| | |10(Gli)|
12.435|12|19|11|12q13.3|AAA4|P|Aortic aneurysm, familial abdominal, 4||614375|Fd|associated with rs1466535||Aortic aneurysm, familial abdominal, 4 (2)| | ||
12.436|8|7|13|12q13.3|B4GALNT1, GALGT, GALNACT, SPG26|P|Beta-1,4-N-acetylgalactosaminyltransferase 1||601873|A|||Spastic paraplegia 26, autosomal recessive, 609195 (3)| | ||
12.437|10|15|98|12q13.2|DGKA, DAGK1|C|Diacylglycerol kinase, alpha, 80kD||125855|REa, A, H|||| | |10(Dagk1)|
12.438|12|21|09|12q13.3|DTX3|P|Deltex, Drosophila, homolog of, 3||613142|REc|||| | ||
12.439|6|9|08|12q13.3|INHBE|P|Inhibin, beta E||612031|REc|||| | ||
12.440|12|27|13|12q13.3|MARS, MTRNS, METRS|P|Methioninyl-tRNA synthetase||156560|S, REc|mutation identified in 1 family||?Infantile liver failure syndrome 2, 615486 (3)| | ||
12.441|2|12|21|12q13.3|MIR616|P|Micro RNA 616||614489|REc|||| | ||
12.442|6|26|08|12q13.3|OBFC2B, SSB1|P|Oligonucleotide/oligosaccharide-binding fold-containing protein 2B||612104|REc|||| | ||
12.443|3|12|07|12q13.11|PFKM, GSD7|C|Phosphofructokinase, muscle type||610681|Psh, A, Fd|incorrectly assigned to chr.1||Glycogen storage disease VII, 232800 (3)| | |15(Pfk4)|
12.444|3|1|11|12q13.3|PTGES3, P23, CPGES|P|Prostaglandin E synthase 3||607061|R, REc|||| | ||
12.445|12|20|05|12q13.3|SDRO|P|Orphan short-chain dehydrogenase/reductase||609769|REc|||| | |10(Sdro)|
12.446|11|19|13|12q13.3|STAC3, NAM|P|SH3 and cystein-rich domains 3||615521|REc|||Native American myopathy, 255995 (3)| | ||
12.447|6|19|98|12q13.3|NAB2|P|NGFIA-binding protein-2||602381|A|||| | |10(Nab2)|
12.448|6|7|10|12q14.1|AVIL|P|Advillin||613397|A, H|||| | |10(Avil)|
12.449|5|12|11|12q14.1|CDK4, CMM3|C|Cyclin-dependent kinase 4||123829|A|||{Melanoma, cutaneous malignant, 3}, 609048 (3)| | ||
12.450|11|5|13|12q13.3|ARHGAP9|P|Rho GTPase-activating protein 9||610576|REc|||| | ||
12.451|2|3|05|12q15|DYRK2|C|Dual-specificity tyrosine phosphorylation-regulated kinase 2||603496|REc|||| | ||
12.452|5|6|13|12q14|GLC1P|P|Glaucoma 1, open angle, P||177700|Ch|caused by 300kb duplication||Glaucoma 1, open angle, P (4)| | ||
12.453|3|27|03|12q14.3|GNS, G6S|P|N-acetylglucosamine-6-sulfatase||607664|A, REa|||Mucopolysaccharidosis type IIID, 252940 (3)| | ||
12.454|2|22|10|12q15|IFNG, IFG, IFI|C|Interferon, gamma||147570|REa, A|3 introns; none in IFF, IFL||{TSC2 angiomyolipomas, renal, modifier of}, 613254 (3); {Aplastic|anemia}, 609135 (3); {Tuberculosis, protection against}, 607948 (3); {AIDS, rapid progression to}, 609423 (3);{Hepatitis C virus, response to therapy of},|609532 (3) |10(Ifg)|
12.455|5|31|05|12q14.3|LEMD3, MAN1|C|LEM domain-containing 3||607844|R, Fd|||Osteopoikilosis, 166700 (3); Buschke-Ollendorff syndrome, 166700 (3);|Melorheostosis with osteopoikilosis, 155950 (3) | ||
12.456|10|20|99|12q13.2|MMP19, MMP18|P|Matrix metalloproteinase-19||601807|A|||| | ||
12.457|12|1|11|12q14|PRO2268|P|PRO2268 gene||614354|REc|||| | ||
12.458|9|15|89|12q15|RAP1B|P|RAS-related protein RAP1B||179530|A|||| | ||
12.459|8|5|97|12q14.2|AVPR1A|P|Arginine vasopressin receptor-1A||600821|Psh, A|||| | ||
12.460|3|22|06|12q21.2|ZDHHC17, HIP14|P|Zinc finger DHHC domain-containing protein 17||607799|A|||| | ||
12.461|6|7|10|12q14.1|MARCH9|P|Membrane-associated RING-CH finger protein 9||613336|REc|||| | ||
12.462|6|4|13|12q14.1|METTL21B, FAM119B|P|Methyltransferase-like 21B||615258|REc|||| | ||
12.463|10|6|09|12q14.1|MIR26A2, MIRN26A2|P|Micro RNA 26A2||613057|REc|||| | ||
12.464|3|23|09|12q14.1|MIRLET7I, LET7I, MIRNLET7I|P|Micro RNA Let7i||612148|REc|||| | ||
12.465|9|30|02|12q14.2|RASSF3|P|Ras association domain family protein 3||607019|REc|||| | ||
12.466|10|2|12|12q14.1|USP15|P|Ubiquitin-specific protease 15||604731|REc|||| | ||
12.467|9|20|00|12q15|KCNMB4|P|Potassium large conductance calcium-activated channel, subfamily M,|beta member 4|605223|REc|||| | ||
12.468|1|20|06|12q21.1|TSPAN8, TM4SF3|P|Tetraspanin 8||600769|REc|||| | ||
12.469|8|23|09|12q14.2|AUTS13|P|Autism, susceptibility to, 13||610908|Fd|linkage with rs1445442||{Autism susceptibility 13} (2)| | ||
12.470|6|11|11|12q14.2|DPY19L2, SPGF9|P|DPY19-like 2||613893|REc|pseudogene on 7p14.3||Spermatogenic failure 9, 613958 (3)| | |9(Dpy19l2)|
12.471|3|18|13|12q14.2|TBK1, NAK|P|TANK-binding kinase 1||604834|REc|||| | ||
12.472|1|31|13|12q14.2|TMEM5, MDDGA10|P|Transmembrane protein 5||605862|REc|||Muscular dystrophy-dystroglycanopathy (congenital with brain and|eye anomalies), type A, 10, 615041 (3) | ||
12.473|9|8|06|12q15|BEST3, VMD2L3|P|Bestrophin 3||607337|A|||| | ||
12.474|8|16|13|12q14.3|GRIP1|P|Glutamate receptor-interacting protein 1||604597|REc|||Fraser syndrome, 219000 (3)| | ||
12.475|8|25|11|12q14.3|HMGA2, HMGIC, BABL|C|High-mobility group AT-hook 2||600698|A, Psh, Ch, RE, Fd|fusion partners with RAD51B, ALDH2, COX6C, HEI10 in uterine|leiomyomas|Leiomyoma, uterine, somatic, 150699 (2)| | |10(pg, Hmgic)|
12.476|5|31|07|12q14.3|IRAK3, IRAKM, ASRT5|C|Interleukin 1 receptor-associated kinase 3||604459|REc|||{Asthma susceptibility 5}, 611064 (3)| | ||
12.477|2|1|11|12q14.3|MSRB3, DFNB74|P|Methionine sulfoxide reductase B3||613719|REc|||Deafness, autosomal recessive 74, 613718 (3)| | ||
12.478|2|17|09|12q14.3|STQTL9|P|Stature quantitative trait locus 9||611547|Fd|associated with rs1042725||{Stature QTL 9} (2)| | ||
12.479|3|7|13|12q14.3|TBC1D30, KIAA0984|P|TBC1 domain family, member 30||615077|REc|||| | ||
12.480|6|13|12|12q14-q15|CAND1, TIP120A, TIP120, KIAA0829|P|Cullin-associated neddylation-dissociated protein 1||607727|A, REc|||| | ||
12.481|12|19|11|12q15|MDM2, ACTFS|C|Mouse double minute 2, homolog of (p53-binding protein)||164785|REa, A|||{Accelerated tumor formation, susceptibility to}, 614401 (3)| | |10(Mdm2)|
12.482|4|30|03|12q21.1-q21.2|CAPS2|P|Calcyphosine 2||607724|REc|||| | ||
12.483|9|9|08|12q15|CNOT2, NOT2|P|CCR4-NOT transcription complex, subunit 2||604909|REc|||| | ||
12.484|4|23|09|12q13.3|CNPY4, TMEM4, MSAP|P|Canopy 2, zebrafish, homolog of||605861|R, REc|||| | ||
12.485|2|18|96|12q15|CPM|P|Carboxypeptidase M||114860|Psh, REc, A|||| | ||
12.486|3|3|09|12q15|IBD26|P|Inflammatory bowel disease 26||612639|Fd|associated with rs1558744||{Inflammatory bowel disease 26} (2)| | ||
12.487|10|17|00|12q15|IL22, IL21, ILTIF|P|Interleukin 22||605330|R|||| | ||
12.488|11|26|01|12q15|IL26, AK155|P|Interleukin 26||605679|REc|||| | ||
12.489|3|15|07|12q15|LRRC10, HRLRRP|P|Leucine-rich repeat-containing protein 10||610846|R, REc|||| | ||
12.490|1|9|09|12q15|LYZ|P|Lysozyme||153450|REa, REc|||Amyloidosis, renal, 105200 (3)| | ||
12.491|3|15|11|12q15|MDM1|P|Mouse double minute 1 homolog||613813|REc|||| | |10(Mdm1)|
12.492|4|25|93|12q15|PTPRB|P|Protein tyrosine phosphatase, receptor type, beta polypeptide||176882|A|||| | ||
12.493|2|16|02|12q21.1|TRHDE|P|Thyrotropin-releasing hormone-degrading ectoenzyme||606950|A|||| | ||
12.494|1|31|01|12q21.2|PHLDA1, TDAG51|C|Pleckstrin homology-like domain, family A, member 1||605335|R|||| | ||
12.495|8|30|01|12q21.2-q21.3|PPP1R12A, MYPT1|P|Protein phosphatase 1, regulatory subunit 12A|(myosin phosphatase target subunit 1)|602021|A, R|||| | ||
12.496|2|4|02|12q21.1|GPR49, LGR5|C|G protein-coupled receptor-49||606667|R, A|||| | ||
12.497|12|24|13|12q21.1|ATXN7L3B|P|Ataxin 7-like 3B||615579|REc|||| | ||
12.498|2|20|97|12q21.33|DSPG3|P|Dermatan sulfate proteoglycan 3||601657|A, REc|||| | ||
12.499|2|23|09|12q21.2|GLIPR1, GLIPR, RTVP1|P|Glioma pathogenesis-related protein 1||602692|REc|||| | |10(Glipr1)|
12.500|8|19|13|12q21.2|GLIPR1L1|P|GLIPR1-like protein 1||610395|REc|||| | |10(Glipr1l1)|
12.501|8|19|13|12q21.2|GLIPR1L2|P|GLIPR1-like protein 2||610394|REc|||| | |10(Glipr1l2)|
12.502|12|4|02|12q21.31-q21.32|GNTIVH|P|UDP-N-acetylglucosamine:alpha-1,3-D-mannoside|beta-1,4-N-acetylglucosaminyltransferase IV|607385|A|||| | ||
12.503|10|27|97|12q21.31|MYF5|P|Myogenic factor-5||159990|REa, A, RE|||| | ||
12.504|12|30|11|12q21.31|MYF6, CNM3|C|Myogenic factor-6||159991|REa, A, RE, REc|6.5kb upstream from MYF5; both prob. 12q15, by H||Myopathy, centronuclear, 3, 614408 (3)| | |10(Myf6)|
12.505|8|28|97|12q21.31|NTS|C|Neurotensin||162650|REa, A|||| | ||
12.506|12|15|98|12q21.2|PAWR, PAR4|C|PRKC, apoptosis, WT1, regulator||601936|A, Psh, R|||| | ||
12.507|10|23|87|12q21|PEPB|C|Peptidase B||169900|S|||| | |10(Pep2)|
12.508|1|27|11|12q23.1|RMST, NCRMS, NCRNA00054|P|Rhabdomyosarcoma 2-associated transcript||607045|REc|||| | ||
12.509|4|12|92|12q21.33|ATP2B1, PMCA1|P|ATPase, Ca++ transporting, plasma membrane, 1||108731|REa, A|||| | ||
12.510|5|5|09|12q21-q23|DUH2|P|Dyschromatosis universalis hereditaria 2||612715|Fd|between rs1921045 and rs2373584||Dyschromatosis universalis hereditaria 2 (2)| | ||
12.511|11|12|98|12q21-q23|MYP3|P|Myopia, high grade, 3, autosomal dominant||603221|Fd|||Myopia-3 (2)| | ||
12.512|11|24|98|12q21.2|CSRP2, LMO5|C|Cysteine and glycine-rich protein-2 (LIM domain only 5, smooth muscle)||601871|A, R|pseudogene on 3q21.1||| | ||
12.513|2|6|08|12q21.2|NAV3, POMFIl1, KIAA0938|P|Neuron navigator 3||611629|R, REc|||| | ||
12.514|12|18|08|12q21.1|RAB21, KIAA0118|P|RAB-associated protein RAB21||612398|R, REc|||| | ||
12.515|3|23|09|12q21.1|TBC1D15|P|TBC1 domain family, member 15||612662|REc|||| | ||
12.516|1|20|09|12q21.1|THAP2|P|THAP domain-containing protein 2||612531|REc|||| | ||
12.517|9|8|09|12q21.1|TPH2, NTPH, ADHD7|P|Tryptophan hydroxylase 2||607478|REc|||{Unipolar depression, susceptibility to}, 608516 (3); {Attention|deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3) | ||
12.518|4|24|08|12p11.22|MRPS35, MRPS28|P|Mitochondrial ribosomal protein S35||611995|REc|3 pseudogenes||| | ||
12.519|5|31|06|12q21.2|BBS10, C12orf58, FLJ23560|C|BBS10 gene||610148|REc, Fd|||Bardet-Biedl syndrome 10, 209900 (3)| | ||
12.520|6|11|09|12q21.2|KRR1|P|KRR1, yeast, homolog of||612817|REc|||| | ||
12.521|5|19|06|12q21.2|NAP1L1, NAP1L|P|Nucleosome assembly protein 1-like 1||164060|R, REc|||| | ||
12.522|12|17|12|12q21.31|PTPRQ, PTPGMC1, DFNB84A|P|Protein-tyrosine phosphatase, receptor-type, Q||603317|A, REc|||Deafness, autosomal recessive 84A, 613391 (3)| | |10(Ptpgmc1)|
12.523|4|3|09|12q21.32|CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14|C|Centrosomal protein, 290kD||610142|R, REc, Fd|||Joubert syndrome 5, 610188 (3); Senior-Loken syndrome 6, 610189 (3);|Leber congenital amaurosis 10, 611755 (3); Meckel syndrome 4, 611134 (3); Bardet-Biedl syndrome 14, 209900 (3)| ||
12.524|3|11|09|12q21.33|DCN, CSCD|C|Decorin||125255|REa, A|conflicting assignments to 12q23 and 12q13.2||Corneal dystrophy, congenital stromal, 610048 (3)| | |10(Dcn)|
12.525|6|9|08|12q21.2|E2F7|P|E2F transcription factor 7||612046|REc|||| | |10(E2f7)|
12.526|7|8|10|12q21.31|ALX1, CART1, FND3|P|Aristaless-like homeobox 1 (cartilage homeoprotein 1)||601527|REa, REc|||Frontonasal dysplasia 3, 613456 (3)| | ||
12.527|6|25|99|12q21.33|GALNT4, GalNAcT4|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 4|603565|A, Fd|||| | ||
12.528|5|27|97|12q21.33|LUM, LDC|C|Lumican||600616|A, Psh|||| | |10(Ldc)|
12.529|4|26|12|12q21.31|SLC6A15, SBAT1|P|Solute carrier family 6 (neurotransmitter transporter), member 15||607971|R, REc|||| | ||
12.530|12|1|11|12q21.31|ACSS3|P|Acyl-CoA synthetase short-chain family, member 3||614356|REc|||| | ||
12.531|12|29|06|12q24.31|MLXIP, MONDOA, KIAA0867|C|MLX-interacting protein||608090|R, A|||| | ||
12.532|11|20|12|12q21.31|OTOGL, C12orf64, DFNB84B|P|Otogelin-like protein||614925|REc|||Deafness, autosomal recessive 84B, 614944 (3)| | ||
12.533|7|18|12|12q21.31|RASSF9, PAMCI, PCIP1|P|Ras association domain family, member 9||610383|REc|||| | ||
12.534|6|11|13|12q21.33|DUSP6, MKP3, PYST1, HH19|P|Dual-specificity phosphatase-6||602748|Psh, A, REc|||Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3)| | ||
12.535|8|27|12|12q21.33|POC1B, PIX1|P|POC1 centriolar protein, Chlamydomonas, homolog of, B||614784|REc|||| | ||
12.536|3|29|12|12q22|CRADD, RAIDD, MRT34|P|Caspase and RIP adaptor with death domain||603454|R|||Mental retardation, autosomal recessive 34, 614499 (3)| | |10(Raidd)|
12.537|3|17|94|12q21.33|BTG1|P|B-cell translocation gene 1, anti-proliferative||109580|Ch|||| | ||
12.538|7|10|13|12q22|EEA1|P|Early endosome antigen 1||605070|REc, R|||| | ||
12.539|3|6|01|12q21.33|KERA, CNA2|C|Keratocan||603288|H, Fd, LD, A|||Cornea plana congenita, recessive, 217300 (3)| | |10(Kera)|
12.540|10|15|09|12q21.32|KITLG, MGF, SF, SCF, SHEP7|C|KIT ligand (mast cell growth factor; steel, mouse, homolog of)||184745|REa, A|associated with dbSNP rs12821256||[Skin/hair/eye pigmentation 7, blond/brown hair], 611664 (3);|Hyperpigmentation, familial progressive, 2, 145250 (3) | |10(Sl; Scf)|
12.541|10|1|95|12q23.1|LTA4H|P|Leukotriene A4 hydrolase||151570|A|||| | ||
12.542|8|3|12|12q22|METAP2, p67|P|Methionine aminopeptidase 2||601870|REc|||| | ||
12.543|1|12|95|12q22|MGCT|C|Male germ cell tumor||273300|D, Ch|||Male germ cell tumor (2)| | ||
12.544|12|19|11|12q22|MIR492|P|Micro RNA 492||614384|REc|within KRT19||| | ||
12.545|3|5|08|12q22|MRPL42, MRPL31, MRPS32|P|Mitochondrial ribosomal protein L42||611847|R, REc|||| | ||
12.546|3|30|12|12q22|NDUFA12|P|NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 12||614530|REc|||Leigh syndrome due to mitochondrial complex 1 deficiency,|256000 (3) | ||
12.547|3|18|95|12q23.1|NEDD1|P|Neural precursor cell expressed, developmentally down-regulated 1||600372|A|||| | ||
12.548|2|12|09|12q23.2|SPIC|P|SPIC transcription factor||612568|REc|||| | ||
12.549|2|11|11|12q23.1|TMPO, LAP2, CMD1T|P|Thymopoietin||188380|A|||Cardiomyopathy, dilated, 1T, 613740 (3)| | |10(Tmpo)|
12.550|1|13|06|12q23.2|ASCL1, ASH1|C|Achaete-scute complex, Drosophila, homolog-like 1||100790|REa, A|distal to PAH and proximal to TRA1||Central hypoventilation syndrome, congenital, 209880 (3); Haddad|syndrome, 209880 (3) | ||
12.551|12|17|07|12q24.13|DDX54, DP97|P|Dead/H Box 54||611665|REc|||| | ||
12.552|8|9|05|12q23.1|HAL, HSTD|C|Histidine ammonia-lyase (histidase)||609457|REa, A|||[Histidinemia], 235800 (3)| | |10(Hstd)|
12.553|9|18|06|12q22|NTN4|P|Netrin 4||610401|A|||| | ||
12.554|1|11|07|12q23.1-q23.2|SLC5A8, AIT, SMCT|C|Solute carrier family (iodide transporter), member 8||608044|REc|||| | ||
12.555|8|21|07|12q23.3|NT5DC3, TU12B1TY, GNN|P|5' nucleotidase domain-containing protein 3||611076|A, REc|||| | |10(Nt5dc3)|
12.556|6|7|04|12q22-q23.2|MDD1|P|Major depressive disorder||608520|Fd|max lod with D12S1706||Major depressive disorder 1, 608516 (2)| | ||
12.557|1|10|12|12q22-q23.3|ETL2, FTLE|P|Epilepsy, familial temporal lobe||608096|Fd|max lod at D12S1706||Epilepsy, familial temporal lobe, 2 (2)| | ||
12.558|8|25|04|12q23.2|IGF1|C|Insulin-like growth factor-1, or somatomedin C||147440|REa, A, Fd|||Growth retardation with deafness and mental retardation due to|IGF1 deficiency, 608747 (3) | |10(Igf1)|
12.559|4|30|02|12q24.31|ACADS, SCAD|C|Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain||606885|REa, A|||Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)| | |5(Bcd1)|
12.560|10|24|00|12q23.1|APAF1|P|Apoptotic protease activating factor 1||602233|A|||| | ||
12.561|1|12|11|12q23.2|C12orf48, AROM, PARPBP|P|Chromosome 12 open reading frame 48||613687|REc|||| | ||
12.562|1|7|95|12q23.1|ELK3, SAP2, ERP|P|ELK3, ETS-domain protein (SRF accessory protein 2)||600247|REa|||| | |6(Scnn1)|
12.563|2|7|06|12q23.1|IKIP|P|I-kappa-B kinase-interacting protein||609861|REc|||| | ||
12.564|9|24|08|12q23.1|SLC17A8, VGLUT3, DFNA25|C|Solute carrier family 17 (sodium-dependent inorganic phosphate|cotransporter), member 8 (vesicular glutamate transporter 3)|607557|REc, Fd|||Deafness, autosomal dominant 25, 605583 (3)| | ||
12.565|2|19|07|12q23.1|SLC25A3, PHC|C|Solute carrier family 25 (mitochondrial carrier), member 3||600370|REa, A|||Mitochondrial phosphate carrier deficiency, 610773 (3)| | ||
12.566|11|3|11|12q23.2|SYCP3, SCP3, COR1, SPGF4|P|Synaptonemal complex protein 3||604759|REc|||Spermatogenic failure 4, 270960 (3); {Pregnancy loss,|susceptibility to} (3) | ||
12.567|11|24|08|12q23.1|TMEM16D, FLJ34272|P|Transmembrane protein 16D||610111|REc|||| | ||
12.568|5|22|07|12q22|USP44|P|Ubiquitin-specific protease 44||610993|R, REc|||| | ||
12.569|3|18|94|12q23.2|PMCH|C|Pro-melanin-concentrating hormone||176795|REa, A|||| | ||
12.570|8|16|99|12q24.13|RASAL1, RASAL|P|Ras protein activator-like 1||604118|R|||| | ||
12.571|4|27|12|12q23-q24|SPG36|P|Spastic paraplegia-36||613096|Fd|between D12S360 and D12S354||Spastic paraplegia 36, autosomal dominant (2)| | ||
12.572|12|22|08|12q24.11|USP30|P|Ubiquitin-specific protease 30||612492|REc|||| | ||
12.573|2|25|03|12q24.11|ATP2A2, ATP2B, DAR|C|ATPase, Ca++ transporting, slow-twitch, cardiac muscle-2||108740|REa, A, Fd|||Darier disease, 124200 (3); Acrokeratosis verruciformis, 101900 (3)| | |11(Atpb2)|
12.574|3|2|98|12q23.3|CRY1, PHLL1|P|Cryptochrome 1 (photolyase-like)||601933|A|||| | |10(Cry1)|
12.575|9|2|09|12q23.3|EID3, NSMCE4B, NSE4B|P|E1A-like inhibitor of differentiation 3||612986|REc|||| | |10(Eid3)|
12.576|1|27|97|12q13.3|NACA|P|Nascent-polypeptide-associated complex alpha polypeptide||601234|A, REa|||| | ||
12.577|4|10|96|12q24.31|PLA2G1B, PLA2A, PLA2, PPLA2|C|Phospholipase A2, group IB, pancreas||172410|REa, Fd|||| | ||
12.578|4|19|01|12q23.3|PRDM4, PFM1|P|PR domain-containing protein 4||605780|REc, Psh|||| | ||
12.579|12|4|03|12q24.31|RNF34, RFI|P|Ring finger protein 34||608299|A|||| | ||
12.580|2|20|98|12q23.3|TXNRD1, TXNR|P|Thioredoxin reductase-1||601112|A|||| | ||
12.581|6|15|12|12q24.11|UNG, DGU, HIGM5|C|Uracil-DNA glycosylase||191525|REa, R|||Immunodeficiency with hyper IgM, type 5, 608106 (3)| | ||
12.582|6|16|10|12q24.11|MYL2, CMH10|C|Myosin, light polypeptide-2, regulatory, cardiac, slow||160781|A, REa|||Cardiomyopathy, familial hypertrophic, 10, 608758 (3)| | ||
12.583|12|28|08|12q23.1|ANKS1B, EB1|P|Ankyrin repeat and sterile alpha motif domain-containing protein 1B||607815|R, REc|||| | ||
12.584|5|25|13|12q23.1|SNRPF|P|Small nuclear ribonucleoprotein polypeptide F||603541|REc|||| | ||
12.585|7|20|12|12q23.2|ARL1|P|ADP-ribosylation factor-like 1||603425|REc|||| | ||
12.586|4|20|10|12q23.2|DRAM1|P|Damage-regulated autophagy modulator 1||610776|R, REc|||| | ||
12.587|1|9|13|12q23.2|HELLPAR, lncHELLP|P|HELLP syndrome-associated long noncoding RNA||614985|REc|||| | ||
12.588|12|12|12|12q23.2|MYBPC1, LCCS4|P|Myosin-binding protein C, slow type||160794|REa, REc|||Arthrogryposis, distal, type 1B, 614335 (3); Lethal congenital|contracture syndrome 4, 614915 (3) | ||
12.589|4|14|05|12q23.2|NUP37, p37|P|Nucleoporin, 37kD||609264|REc|||| | ||
12.590|7|16|09|12q23.2|UTP20, DRIM|P|UTP20, S. cerevisiae, homolog of||612822|A|||| | ||
12.591|11|30|06|12q24.11|ALKBH2, ABH2|P|AlkB, E. coli, homolog of, 2||610602|REc|||| | ||
12.592|3|13|08|12q23.2|GNPTAB, GNPTA|C|N-acetylglucosamine-1-phosphate transferase, alpha/beta subunits||607840|F, S, D, REc|conflicting assignment to 4q||Mucolipidosis III alpha/beta, 252600 (3); Mucolipidosis II|alpha/beta, 252500 (3) | ||
12.593|9|7|04|12q23.3|HCFC2, HCF2|P|Host cell factor C2||607926|R, REc|||| | ||
12.594|9|8|08|12q23.3|HSP90B1, TRA1, GRP94, GP96|C|Heat-shock protein, 90kD, beta, 1||191175|REa, A, REc|||| | |10(Tra1)|
12.595|8|29|13|12q23.3|NFYB|P|Transcription factor NF-Y, B subunit||189904|REa, A, REc|||| | |10(Nfyb)|
12.596|5|29|12|12q23.3|NUAK1, ARK5,  KIAA0537|P|NUAK famly, SNF1-like kinase, 1||608130|REc, R|||| | ||
12.597|12|19|11|12q23.3|POLR3B, RPC2, C128, HLD8|P|Polymerase III, RNA, subunit B||614366|REc|||Leukodystrophy, hypomyelinating, 8, with or without oligodontia|and/or hypogonadotropic hypogonadism, 614381 (3) | ||
12.598|12|10|12|12q23.3|RIC8B|P|Ric8, C. elegans, homolog of, B||609147|REc|||| | ||
12.599|2|27|07|12q23.3|SLC41A2|P|Solute carrier family 41, member 2||610802|REc|||| | |10(Slc41a2)|
12.600|1|29|01|12q24.31|ABCB9|P|ATP-binding cassette, subfamily B, member 9||605453|REc|||| | ||
12.601|9|21|12|12q24.12|ATXN2, ATX2, SCA2, ASL13|C|Ataxin-2||601517|Fd|||Spinocerebellar ataxia 2, 183090 (3); {Amyotrophic lateral sclerosis,|susceptibility to, 13}, 183090 (3) | ||
12.602|3|9|09|12q24.12|BRAP, BRAP2, IMP|P|BRCA1-associated protein||604986|REc|||| | ||
12.603|5|28|08|12q24|CELIAC13|P|Celiac disease, susceptibility to, 13||612011|Fd|associated with rs3184504||{Celiac disease, susceptibility to, 13} (2)| | ||
12.604|2|10|04|12q24|CIMT|P|Carotid intimal medial thickness||608447|Fd|161cM from pter; near SCARB1||Carotid intimal medial thickness (2)| | ||
12.605|1|2|03|12q24.11|DAO, DAMOX|C|D-amino-acid oxidase||124050|REa, Fd, LD|tightly linked to SCA2||{Schizophrenia}, 181500 (2)| | ||
12.606|1|19|01|12q24.13|DTX1|P|Deltex, Drosophila, homolog of, 1||602582|R, A|||| | ||
12.607|6|8|07|12q24.23|HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A|C|Heat-shock 22-kD protein 8||608014|REc, Fd|||Neuropathy, distal hereditary motor, type IIA, 158590 (3);|Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3) | ||
12.608|11|22|10|12q24.21|MED13L, THRAP2, PROSIT240, TRAP240L, KIAA1025|P|Mediator complex subunit 13-like||608771|A, REc|||Transposition of the great arteries, dextro-looped 1, 608808 (3)| | |5(Med13l)|
12.609|2|20|03|12q24.11|MMAB|P|MMAB gene||607568|Fd|||Methylmalonic aciduria, vitamin B12-responsive, due to defect in|synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) | ||
12.610|11|1|12|12q24.11|MVK, MVLK, POROK3|C|Mevalonate kinase||251170|REa, A|||Mevalonic aciduria, 610377 (3); Hyper-IgD syndrome, 260920 (3);|Porokeratosis 3, disseminated superficial actinic, 175900 (3) | ||Schafer (1992)
12.611|2|1|00|12q24.31|NCOR2, SMRT|P|Nuclear receptor corepressor 2||600848|A|||| | ||
12.612|10|10|13|12q24.31|ORAI1, TMEM142A, CRACM1, IMD9|P|ORAI calcium release-activated calcium modulator 1||610277|Fd, REc|||Immunodeficiency 9, 612782 (3)| | ||
12.613|1|27|09|12q24.31|P2RX7, P2X7|P|Purinergic receptor P2X, ligand-gated ion channel, 7||602566|A, R|||| | ||
12.614|8|17|12|12q24|PDA1|P|Patent ductus arteriosus||607411|Fd|||{Patent ductus arteriosus, susceptibility to} (2)| | ||
12.615|6|25|99|12q24.23-q24.31|PXN|P|Paxillin||602505|A|||| | ||
12.616|12|30|03|12q24.11|RAD9B|P|RAD9, S. pombe, homolog of, A||608368|REc|||| | |5(Rad9b)|
12.617|10|1|95|12q24.11|SELPLG, PSGL1|P|Selectin P ligand||600738|REa, A|||| | |5(Selpl)|
12.618|7|12|11|12q24.12|SH2B3, LNK|C|SH2B adaptor protein 3||605093|R, Fd|||Myelofibrosis, somatic, 254450 (3); Thrombocythemia, somatic,|187950 (3); Erythrocytosis, somatic, 133100 (3) | ||
12.619|1|20|06|12q24.13|SLC24A6, NCKX6|P|Solute carrier family 24 (sodium/potassium/calcium exchanger),|member 6|609841|REc|||| | |5(Slc24a6)|
12.620|2|16|04|12q24|SLEB4|P|Systemic lupus erythematosus, susceptibility to, 4||608437|Fd|||{Systemic lupus erythematosus, susceptibility to, 4} (2)| | ||
12.621|11|2|05|12q24.31|HPD|C|4-hydroxyphenylpyruvate dioxygenase||609695|REa, A|||Tyrosinemia, type III, 276710 (3); Hawkinsinuria, 140350 (3)| | ||
12.622|6|9|98|12q24.11|ACACB, ACCB, ACC2|P|Acetyl-Coenzyme A carboxylase, beta||601557|A|||| | ||
12.623|2|20|07|12q23.3|APPL2, FLJ10659|P|Adaptor protein, phosphotyrosine interaction, PH domain, and leucine|zipper-containing protein 2|606231|Ch, REc|||| | ||
12.624|8|21|98|12q24.31|BCL7A, BCL7|P|B-cell CLL/lymphoma-7A||601406|Ch|||B-cell non-Hodgkin lymphoma, high-grade (3)| | ||
12.625|3|16|99|12q23.3|CMKLR1|P|Chemokine-like receptor 1||602351|A|||| | ||
12.626|1|31|01|12q24.11|CORO1C|P|Coronin 1C||605269|A|||| | ||
12.627|6|30|05|12q24.11|FOXN4|P|Forkhead box N4||609429|R, REc|||| | ||
12.628|4|13|10|12q23.3|ISCU, HML|C|Iron-sulfur cluster scaffold, E. coli, homolog of||611911|R, REc, Fd|||Myopathy with lactic acidosis, hereditary, 255125 (3)| | ||
12.629|3|24|09|12q23.2|PAH, PKU1|C|Phenylalanine hydroxylase||612349|REa, A, Fd|close to IGF1||Phenylketonuria, 261600 (3); [Hyperphenylalaninemia, non-PKU mild],|261600 (3) | |10(Pah)|
12.630|12|28|08|12q24.11|PPTC7, TAPP2C|P|PTC7 protein phosphatase, S. cerevisiae, homolog of||609668|R, REc|||| | ||
12.631|1|13|99|12q24.23|PRKAB1|P|Protein kinase, AMP-activated, noncatalytic, beta-1||602740|A|||| | ||
12.632|11|30|10|12q24.13|PTPN11, PTP2C, SHP2, NS1|C|Protein tyrosine phosphatase, nonreceptor-type, 11||176876|A, Fd|||Noonan syndrome 1, 163950 (3); LEOPARD syndrome 1, 151100 (3);|Leukemia, juvenile myelomonocytic, 607785 (3); Metachondromatosis, 156250 (3) | ||
12.633|7|10|08|12q24.13|RPH3A, KIAA0985|P|Rabphilin 3A||612159|R, REc|||| | ||
12.634|1|2|08|12q23.3|SART3, P100, KIAA0156, TIP110, DSAP1|C|Squamous cell carcinoma antigen recognized by T cells 3||611684|Fd, Psh, REc, H|||Porokeratosis, disseminated superficial actinic, 1, 175900 (3)| | |5(Sart3)|
12.635|5|2|07|12q24.1|STUT2|P|Stuttering, familial persistent 2||609261|Fd|max lod with PAH||Stuttering, familial persistent 2 (2)| | ||
12.636|1|2|08|12q24.11|SVOP|P|SV2-related protein||611699|REc|||| | |5(Svop)|
12.637|8|4|97|12q24.21|TBX3|C|T-box 3||601621|REc, A|||Ulnar-mammary syndrome, 181450 (3)| | |5(Tbx3)|
12.638|2|19|97|12q24.21|TBX5|C|T-box 5||601620|Fd, REc, Ch|||Holt-Oram syndrome, 142900 (3)| | |5(Tbx5)|
12.639|3|23|09|12q24.11|TCHP|P|Trichoplein||612654|R, REc|||| | ||
12.640|6|2|98|12q23.3|TDG|P|Thymine-DNA glycosylase||601423|A|||| | |10(Tdg)|
12.641|8|25|11|12q24.11|TECT1, JBTS13|P|Tectonic family, member 1||609863|REc, R|||Joubert syndrome 13, 614173 (3)| | |5(Tect1)|
12.642|5|19|06|12q24.13|TPCN1, TPC1, KIAA1169|P|Two-pore segment channel 1||609666|R, REc|||| | ||
12.643|7|18|12|12q24.11|TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL|C|Transient receptor potential cation channel, subfamily V, member 4|(vanilloid receptor-related osmotically activated channel)|605427|REc, Fd|||Brachyolmia type 3, 113500 (3); Spondylometaphyseal dysplasia,|Kozlowski type, 184252 (3); Metatropic dysplasia, 156530 (3); Hereditary motor and sensory neuropathy, type IIc, 606071 (3); Scapuloperoneal spinal|muscular atrophy, 181405 (3); [Sodium serum level QTL 1], 613508 (3); Parastremmatic dwarfism, 168400 (3); SED, Maroteaux type, 184095 (3); Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3); Digital arthropathy-brachydactyly, familial, 606835 (3)|5(Vroac)|
12.644|8|16|94|12q24.11|PPP1CC|C|Protein phosphatase-1, catalytic subunit, gamma isoform||176914|REa, A|||| | |10(Ppp1cc)|
12.645|11|13|12|12q24.1-q24.2|POROK2, PPPD1|P|Porokeratosis 2, palmar, plantar, and disseminated||175850|Fd|between D12S1613 and D12S1341||Porokeratosis 2, palmar, plantar, and disseminated (2)| | ||
12.646|2|8|01|12q24.23|STK21, CRIK, CIT|P|Serine/threonine protein kinase-21||605629|REc|||| | ||
12.647|12|10|98|12q24.31|MSI1|C|Musashi, Drosophila, homolog of, 1||603328|A, Psh, REc|||| | ||
12.648|4|5|13|12q24.11|ANKRD13A|P|Ankyrin repeat domain-containing protein 13A||615123|REc|||| | ||
12.649|11|1|13|12q24.11|GLTP|P|Glycolipid transfer protein||608949|REc|||| | ||
12.650|1|3|12|12q24.11|HVCN1, HV1, VSOP|P|Hydrogen voltage-gated channel 1||611227|REc|||| | ||
12.651|7|26|10|12q24.11|KCTD10|P|Potassium channel tetramerization domain-containing 10||613421|REc|||| | ||
12.652|6|1|12|12q24.11|MYO1H|P|Myosin IH||614636|REc|||| | ||
12.653|4|3|12|12q24.11|SSH1, KIAA1298|P|Slingshot, Drosophila, homolog of, 1||606778|R|||| | ||
12.654|5|3|13|12q24.11|UBE3B, BPIDS|P|Ubiquitin-protein ligase E3B||608047|REc|||Blepharophimosis-ptosis-intellectual disability syndrome, 615057|(3) | |5(Ube3b)|
12.655|9|30|11|12q24.12|FAM109A, SES1, IPIP27A|P|Family with sequence similiarity 109, member A||614239|REc|||| | ||
12.656|7|8|10|12q24.12-q24.13|MAPKAPK5, PRAK|C|Mitogen-activated protein kinase-activated protein kinase 5||606723|R, REc|||| | ||
12.657|12|5|13|12q24.11|IFT81, DV1, CDV1R|P|Intraflagellar transport 81, Chlamydomonas, homolog of||605489|H, REc|||| | |5(Cdv1, Cdv1r)|
12.658|5|12|09|12q24.13|MDM20, C12orf30|P|Mitochondrial distribution and morphology 20, yeast, homolog of||612755|REc|||| | ||
12.659|5|25|13|12q24.13|SDS, SDH|P|Serine dehydratase||182128|REc|||| | ||
12.660|12|29|09|12q24.13|TRAFD1, FLN29|P|TRAF-type zinc finger domain-containing 1||613197|REc|||| | ||
12.661|7|8|10|12q24.12|ALDH2|C|Aldehyde dehydrogenase 2 family, mitochondrial||100650|REa, A, H|||Alcohol sensitivity, acute, 610251 (3); {Hangover, susceptibility|to}, 610251 (3); {Sublingual nitroglycerin, susceptibility to poor response to} (3); {Esophageal cancer, alcohol-related, susceptibility to} (3)| |4(Aldh2)|
12.662|1|9|13|12q24.31|CAMKK2, KIAA0787, CAMKKB|P|Calcium/calmodulin-dependent protein kinase kinase 2, beta||615002|REc|||| | ||
12.663|9|16|03|12q24.31|COX6A1|P|Cytochrome c oxidase, subunit VIa, polypeptide-1||602072|REc|pseudogenes on chr.7 and chr.6||| | ||
12.664|2|21|06|12q24.31|DYNLL1, DNCL1, DLC1, PIN|P|Dynein, light chain, LC8-type 1||601562|A, REc, REn|possible pseudogene on 14q24||| | ||
12.665|2|9|01|12q24.23|GCN1L1|P|General control of amino acid synthesis 1, yeast, homolog-like 1||605614|R, REa|||| | ||
12.666|3|29|12|12q24.31|HNF1A, TCF1, MODY3, IDDM20|C|HNF1 homeobox B||142410|A, Fd|||MODY, type III, 600496 (3); {Diabetes mellitus, noninsulin-dependent,|2}, 125853 (3); {Diabetes mellitus, insulin-dependent}, 222100 (3); Hepatic adenoma, somatic, 142330 (3); Renal cell carcinoma, 144700 (3); Diabetes|mellitus, insulin-dependent, 20, 612520 (3) |5(Tcf1)|
12.667|8|8|13|12q24.22|HRK, DP5|P|Harakiri||603447|REc|||| | ||
12.668|1|31|07|12q24.22-q24.23|KSR2|P|Kinase suppressor of RAS 2||610737|REc|||| | ||
12.669|12|11|02|12q24.2|NIDDM2|P|Diabetes mellitus, noninsulin-dependent, 2||601407|Fd|no mutations found in HNF1A||Diabetes mellitus, noninsulin-dependent, 2 (2)| | ||
12.670|3|16|06|12q24.13|OAS1, OIAS|C|2',5'-oligoadenylate synthetase-1||164350|REa, A, REc|||{Viral infection, susceptibility to} (3); {Diabetes mellitus,|type 1, susceptibility to}, 222100 (3) | ||
12.671|6|24|99|12q24.13|OAS2|P|2',5'-oligoadenylate synthetase-2||603350|A, REc|||| | ||
12.672|6|24|99|12q24.13|OAS3|P|2',5'-oligoadenylate synthetase-3||603351|A, REc|||| | ||
12.673|11|16|98|12q24.31|OASL, TRIP14|P|2',5'-oligoadenylate synthetase-like||603281|REc|||| | ||
12.674|12|7|07|12q24.22|TESC, TSC|P|Tescalcin, mouse, homolog of||611585|R, REc, H|||| | |5(Tesc)|
12.675|9|9|08|12q24.22|FBXO21, FBX21, KIAA0875|C|F-box only protein 21||609095|REc|||| | |5(Fbxo21)|
12.676|9|9|08|12q24.22|FBXW8, FBW8, FBXW6, FBW6, FBXO29, FBX29|P|F-box and WD40 domain protein 8||609073|REc|||| | |5(Fbxw8)|
12.677|9|8|08|12q24.23|PEBP1, PBP, RKIP|C|Phosphatidylethanolamine-binding protein 1||604591|R, REc|||| | ||
12.678|11|11|09|12q24.23|SRRM4, KIAA1853, NSR100|P|Serine/arginine repetitive matrix protein 4||613103|R, REc|||| | ||
12.679|6|25|99|12q24.2-q24.3|ALFN1, HALF1|P|Activation of liver function 1||603416|A|||| | ||
12.680|7|23|13|12q24.2-q24.3|CTRCT37, CCA5|P|Cataract 37||614422|Fd|between D12S1718 and D12S1723||Cataract 37, autosomal dominant (2)| | ||
12.681|5|19|09|12q24.31|HIP1R, HIP12|P|Huntingtin-interacting protein 1-related protein||605613|A|||| | ||
12.682|11|16|98|12q24.31|PSMD9|P|Proteasome 26S subunit, non-ATPase, 9||603146|A|||| | ||
12.683|7|8|10|12q24.22|NOS1|C|Nitric oxide synthase 1, neuronal||163731|REa, A|||| | |5(Nos1)|
12.684|3|18|95|12q24.23|RFC5|P|Replication factor C5, 36.5kD (activator 1, 36.5kD)||600407|Psh, A|||| | ||
12.685|1|30|12|12q24.31|ATP6V0A2, WSS, ARCL2A|C|ATPase, H+ transporting, lysosomal, V0 subunit A2||611716|R, REc, Fd|||Cutis laxa, autosomal recessive, type IIA, 219200 (3); Wrinkly skin|syndrome, 278250 (3) | ||
12.686|10|19|97|12q24.33|MUC8|P|Mucin 8, tracheobronchial||601932|REa, A|||| | ||
12.687|4|27|13|12q24.33|POLE1, CRCS12, FILS|P|Polymerase (DNA directed), epsilon-1||174762|REa, A|||{Colorectal cancer, susceptibility to, 12}, 615083 (3);|FILS syndrome, 615139 (3) | |5(Pole)|
12.688|6|1|09|12q24.33|RAN, ARA24|P|Ras-related nuclear protein||601179|REc|||| | ||
12.689|5|26|13|12q24.33|TMEM132D, KIAA1944, MOLT|P|Transmembrane protein 132D||611257|REc|||| | ||
12.690|2|9|92|12q24.31|UBC|P|Ubiquitin C||191340|REa, A|||| | ||
12.691|6|25|99|12q24.33|ULK1, UNC51|P|UNC51-like kinase 1||603168|Psh, R, A|||| | ||
12.692|3|24|04|12q24.33|ZNF268|P|Zinc finger protein 268||604753|REc|||| | ||
12.693|2|28|01|12q13.3|BAZ2A|P|Bromodomain adjacent to zinc finger domain, 2A||605682|REa, R|||| | ||
12.694|12|6|11|12q24.31|AACS, ACSF1|P|Acetoacetyl-CoA synthetase||614364|REc|||| | ||
12.695|4|26|10|12q24.31|B3GNT4|P|Beta-1,3-N-acetylglucosaminyltransferase 4||605864|REc|||| | ||
12.696|12|5|13|12q24.31|C12orf65, COXPD7, SPG55|P|Chromosome 12 open reading frame 65||613541|REc|||Combined oxidative phosphorylation deficiency 7, 613559 (3);|Spastic paraplegia 55, autosomal recessive, 615035 (3) | ||
12.697|9|29|10|12q24.31|CCDC62, ERAP75|P|Coiled-coil domain-containing protein 62||613481|REc|||| | ||
12.698|8|25|11|12q24.31|SMAC, DIABLO, DFNA64|P|Second mitochondria-derived activator of caspase||605219|REc|||Deafness, autosomal dominant 64, 614152 (3)| | ||
12.699|2|21|06|12q24.31|DNAH10|P|Dynein, axonemal, heavy chain 10||605884|A, R, REc|previously assigned to 13q14||| | ||
12.700|6|26|01|12q24.31|CDK2AP1, DOC1|P|CDK-associated protein 1 (deleted in oral cancer-1)||602198|A|||| | ||
12.701|9|14|05|12q24.31|GPR81|C|G protein-coupled receptor 81||606923|REc|||| | ||
12.702|9|14|05|12q24.31|GPR109A, HM74A|P|G protein-coupled receptor 109A||609163|REc|||| | ||
12.703|3|10|05|12q24.31|GPR109B, HM74, PUMAG|P|G protein-coupled receptor 109B||606039|REn|||| | ||
12.704|2|1|11|12q24.31|KNTC1, ROD, KIAA0166|P|Kinetochore-associated protein 1||607363|REc|previously assigned to chr.17||| | ||
12.705|3|15|11|12q24.31|MLEC, KIAA0152|P|Malectin||613802|REc|||| | ||
12.706|3|11|09|12q24.31|MPVQTL1|P|Mean platelet volume quantitative trait locus 1||612573|Fd|associated with rs7961894||[Mean platelet volume QTL1] (2)| | ||
12.707|3|23|06|12q24.31|POP5, HSPC004|P|Processing of precursor 5, S. cerevisiae, homolog of||609992|R|||| | ||
12.708|7|22|11|12q24.31|RILPL1, RLP1, GOSPEL|P|RAB-interacting lysosomal protein-like 1||614092|REc, H|||| | |5(Rilpl1)|
12.709|7|22|11|12q24.31|RILPL2, RLP2|P|RAB-interacting lysosomal protein-like 2||614093|REc|||| | ||
12.710|10|5|11|12q24.31|SBNO1|P|Strawberry notch, Drosophila, homolog of, 1||614274|REc|||| | ||
12.711|1|31|11|12q24.31|SCARB1, CD36L1, CLA1, HDLQTL6|C|Scavenger receptor class B, member 1|(CD36 antigen-like 1)|601040|Psh, REc|||[High density lipoprotien cholesterol level QTL6], 610762 (3)| | ||
12.712|8|21|07|12q24.31|SETD1B, SET1B, KIAA1076|P|SET domain-containing protein 1B||611055|R, REc|||| | ||
12.713|3|22|07|12q24.31|SPPL3, IMP2|P|Signal peptide peptidase-like 3||608240|R, REc|||| | ||
12.714|12|19|11|12q24.31|SRSF9, SFRS9, SRp30c|P|Splicing factor, serine/arginine-rich, 9||601943|REc|||| | ||
12.715|4|11|11|12q24.31|TCTN2, TECT2, MKS8|P|Tectonic family, member 2||613846|REc|||Meckel syndrome 8, 613885 (3)| | ||
12.716|12|17|12|12q24.31|TRIAP1, HSPC132|P|TP53-regulated inhibitor of apoptosis 1||614943|REc|||| | ||
12.717|5|19|06|12q24.31|VPS33A|P|Vacuolar protein sorting 33, yeast, homolog of, A||610034|R, REc|||| | ||
12.718|6|9|06|12q24.31|VPS37B|P|Vacuolar protein sorting 37, yeast, homolog of, B||610037|R, REc|||| | ||
12.719|6|8|01|12q24.13|LHX5|P|LIM homeo box protein 5||605992|A|||| | ||
12.720|3|17|94|12q24.31|RSN|P|Restin (Reed-Steinberg cell expressed intermediate filament-associated|protein)|179838|A|||| | ||
12.721|7|14|98|12q24.31|P2RX4, P2X4|P|Purinergic receptor P2X, ligand-gated ion channel, 4||600846|A|||| | ||
12.722|6|19|00|12q24.33|ZNF140|P|Zinc finger protein-140||604082|A|||| | ||
12.723|5|25|09|12q24.33|CHFR|P|Checkpoint protein with FHA and ring-finger domains||605209|REc|||| | ||
12.724|2|21|02|12q24.33|EP400, TNRC12, KIAA1498,|P|p400 SWI2/SNF2-related protein||606265|R|||| | ||
12.725|4|6|13|12q24.33|GALNT9, GALNACT9|P|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 9|606251||REc||| | ||
12.726|11|22|10|12q24.33|GPR133, PGR25|P|G protein-coupled receptor 133||613639|REc|||| | ||
12.727|9|30|09|12q24.33|STX2, EPIM, STX2C, STX2B, STX2A|P|Epimorphin (syntaxin 2)||132350|A, REc|||| | |5(Epim)|
12.728|8|30|01|12q24.33|FZD10|P|Frizzled, Drosophila, homolog of, 10||606147|A|||| | ||
12.729|5|12|99|12q24.33|MMP17|C|Matrix metalloproteinase 17||602285|A, Psh, R|||| | |5(Mmp17)|
12.730|7|15|09|12q24.33|NOC4L, NOC4|P|Nucleolar complex-associated protein 4, S. cerevisiae, homolog of||612819|REc|||| | ||
12.731|11|25|13|12q24.33|P2RX2, P2X2, DFNA41|C|Purinergic receptor P2X, ligand-gated ion channel, 2||600844|REc, Fd|||Deafness, autosomal dominant 41, 608224 (3)| | ||
12.732|11|29|12|12q24.33|PGAM5|P|Phosphogycerate mutase family, member 5||614939|REc|||| | ||
12.733|5|31|05|12q24.33|PUS1, MLASA1|P|Pseudourine synthase 1||608109|R, REc|||Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)| | ||
12.734|2|19|08|12q24.33|RIMBP2, KIAA0318|P|RIMS-binding protein 2||611602|R, REc|||| | ||
12.735|6|7|91|12q24.33|ZNF26|P|Zinc finger protein-26 (KOX20)||194537|REa, A|||| | ||
12.736|5|16|02|12q24.31|ANAPC5, APC5|P|Anaphase-promoting complex, subunit 5||606948|R|||| | ||
12.737|4|1|03|12q24.31|ARL6IP4|P|ADP-ribosylation-like factor 6 interacting protein 4||607668|R|||| | ||
12.738|11|28|01|12q13.13|ATF7|P|Activating transcription factor 7||606371|R|||| | ||
12.739|11|5|98|12q13.13|ATP5G2|P|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C,|isoform 2|603193|REn|||| | ||
12.740|12|11|02|12q24.13|C12orf8, ERP28, ERP29|P|Endoplasmic reticulum lumenal protein 28||602287|R|||| | ||
12.741|1|31|01|12q15|CCT2, CCTB|P|Chaperonin containing T-complex polypeptide 1, subunit 2||605139|R|||| | ||
12.742|2|6|01|12q15|CPSF6, CFIM|P|Cleavage and polyadenylation specific factor 6, 68kD subunit||604979|R|||| | ||
12.743|8|21|98|12p12.3|MGST1, GST12|P|Microsomal glutathione S-transferase 1||138330|RE, REa|pseudogene at 12q13-q14||| | ||
12.744|11|22|02|12q13.3|DCTN2, DCTN50|P|Dynactin 2||607376|R|||| | ||
12.745|11|13|02|12q24.31|EIF2B1, EIF2BA|P|Eukaryotic translation initiation factor 2B, subunit 1||606686|R|||Leukoencephalopathy with vanishing white matter, 603896 (3)| | ||
12.746|7|17|01|12q13.11|EPAC|P|cAMP-regulated guanine nucleotide exchange factor I||606057|R|||| | ||
12.747|2|9|92|12p13.1|GNAI2L, GNAI2A|C|Guanine nucleotide-binding protein (G protein), alpha-inhibiting|activity polypeptide-2-like|139180|REa, A|||| | ||
12.748|5|12|03|12q24.33|GOLGA3|P|Golgi autoantigen, golgin subfamily A, 3||602581|R|||| | ||
12.749|12|11|01|12q13.11|HDAC7A, HDAC7|P|Histone deacetylase 7A||606542|R|||| | ||
12.750|8|27|01|12p13.1|HEBP1, HBP|P|Heme-binding protein 1||605826|R|||| | ||
12.751|1|19|01|12q13.13|HOXC10|P|Homeo box-C10||605560|REc|||| | |15(Hoxc10)|
12.752|1|19|01|12q13.13|HOXC11|P|Homeo box-C11||605559|REc|||| | |15(Hoxc11)|
12.753|1|25|93|12q13.13|IGFBP6|P|Insulin-like growth factor-binding protein-6||146735|Psh|||| | ||
12.754|11|1|02|12q21.1|KCNC2|P|Potassium voltage-gated channel, Shaw-related subfamily, member 2||176256|R|previously on 19q13.3-q13.4||| | |10(Kcnc2)|
12.755|1|30|01|12q24.31|MPHOSPH9, MPP9|P|M-phase phosphoprotein 9||605501|R|||| | ||
12.756|3|10|03|12q15|NUP107, NUP84|P|Nucleoporin, 107kD||607617|R|||| | ||
12.757|1|30|01|12q14.1|PIKE|P|Phosphoinositide 3-kinase enhancer||605476|REc|||| | ||
12.758|1|23|01|12q24.33|PIWIL1|P|Piwi, Drosophila, homolog of||605571|R|||| | ||
12.759|1|28|02|12p13.2|PROL4, LPRP|P|Proline rich 4, lacrimal||605359|R|||| | ||
12.760|4|15|02|12q24.23|RPLP0|P|Ribosomal phosphoprotein, large, P0||180510|R|||| | ||
12.761|1|29|01|12q13.13|SLC4A8, NBC3|P|Solute carrier family 4 (sodium bicarbonate cotransporter), member 8||605024|R|||| | ||
12.762|12|6|01|12q14.2|SRGAP1, KIAA1304|P|Slit-robo GTPase-activating protein, rho, 1||606523|R|||| | ||
12.763|5|9|02|12q13.2|SUOX|P|Sulfite oxidase||606887|R|||Sulfite oxidase deficiency, 272300 (3)| | ||
12.764|4|16|93|Chr.12|TUBAL1|P|Tubulin, alpha-like-1||191120|REa|||| | ||
12.765|10|28|99|12q22|VESPR|P|Virus-encoded semaphorin protein receptor||604259|R|||| | ||
12.766|4|3|02|12q14.3|WIF1|P|WNT inhibitory factor 1||605186|R|||| | ||
13.1|9|2|11|13pter-q12.13|FECD2, FCD1|P|Corneal dystrophy, Fuchs endothelial, 2||610158|Fd|max lod at D13S1304||Corneal dystrophy, Fuchs endothelial, 2 (2)| | ||
13.2|4|26|90|13p12|RNR1|C|Ribosomal RNA-1||180450|A|||| | ||
13.3|2|28|03|13q12.11|IL17D|P|Interleukin 17D||607587|REc|?associated with Hodgkin lymphoma||| | ||
13.4|2|20|07|13q|CLQTL1, CLF|P|Cholesterol level quantitative trait locus 1||604595|Fd|||[Cholesterol level QTL 1] (2)| | ||
13.5|6|15|99|13q12.2|RPL21|C|Ribosomal protein L21||603636|REa, R|||| | ||
13.6|7|25|13|13q12.11|GJA3, CX46, CZP3, CAE3, CTRCT14|C|Gap junction protein, alpha-3, 46kD (connexin 46)||121015|REa, A, Fd|||Cataract 14, multiple types, 601885 (3)| | |14(Gja3)|
13.7|4|19|06|13q12.12|PARP4, ADPRTL1, VPARP, KIAA0177|P|Poly(ADP-ribose) polymerase 4||607519|REc|||| | ||
13.8|6|15|99|13q12.11|TUBA2|P|Tubulin, alpha 2||602528|REc|||| | ||
13.9|8|24|09|13q12.11|FGF9, SYNS3|P|Fibroblast growth factor-9 (glia-activating factor)||600921|A|||Multiple synostoses syndrome 3, 612961 (3)| | ||
13.10|3|6|09|13q12.11|GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID|C|Gap junction protein, beta-2, 26kD (connexin 26)||121011|REa, A, Fd|||Deafness, autosomal recessive 1A, 220290 (3); Deafness, autosomal|dominant 3A, 601544 (3); Vohwinkel syndrome, 124500 (3); Keratoderma, palmoplantar, with deafness, 148350 (3); Keratitis-ichthyosis-deafness|syndrome, 148210 (3); Hystrix-like ichthyosis with deafness, 602540 (3); Bart-Pumphrey syndrome, 149200 (3)|14(Gjb2)|
13.11|5|11|00|13q12.11|LATS2|P|Large tumor suppressor, Drosophila, homolog of, 2||604861|A|||| | |14(Lats2)|
13.12|5|4|00|13q12.13|PABPC3, PABP3, PABPL3|P|Polyadenylate-binding protein, cytoplasmic, 3||604680|Psh|||| | ||
13.13|1|11|11|13q12.11|ZMYM2, ZNF198, RAMP, FIM|C|Zinc finger, MYM-type 2||602221|REc, R, Ch|||| | ||
13.14|1|6|09|13q12.3|ALOX5AP, FLAP|C|Arachidonate 5-lipoxygenase-activating protein||603700|R, A, REc|||{Stroke, susceptibility to}, 601367 (3)| | ||
13.15|7|2|13|13q12.13|ATP8A2, ATPIB, CAMRQ4|C|ATPase, class I, type 8A, member 2||605870|A|||?Cerebellar ataxia, mental retardation, and dysequilibrium|syndrome 4, 615268 (3) | ||
13.16|10|26|98|13q12.13|CDK8|P|Cyclin-dependent kinase 8||603184|REc|||| | ||
13.17|1|2|91|13q12.2-q12.3|FLT1|C|fms-related tyrosine kinase-1 (vascular endothelial growth|factor/vascular permeability factor receptor)|165070|REa, A|150kb from FLT3||| | ||
13.18|12|5|13|13q12.2|FLT3|C|fms-related tyrosine kinase-3||136351|A, Psh, REn|||Leukemia, acute myeloid, reduced survival in, 601626 (3); Leukemia,|acute myeloid, 601626 (3); Leukemia, acute lymphoblastic, somatic, 613065 (3) | |5(Flt3)|
13.19|12|17|12|13q12.11|GJB6, CX30, DFNA3B, DFNB1B, ECTD2, HED2|C|Gap junction protein, beta-6 (connexin-30)||604418|Fd, H|||Deafness, autosomal dominant 3B, 612643 (3); Deafness, autosomal|recessive 1B, 612645 (3); Deafness, digenic GJB2/GJB6, 220290 (3); Ectodermal dysplasia 2, Clouston type, 129500 (3)| ||
13.20|10|1|95|13q12.13|GPR12|P|G protein-coupled receptor-12||600752|A|||| | ||
13.21|8|28|02|13q12.3|HMGB1, HMG1|P|High-mobility group box 1|(high-mobility group (nonhistone chromosomal) protein 1)|163905|A|||| | |5(Hmg1)|
13.22|12|17|07|13q13.1|KL, KLOTHO|P|Klotho||604824|A, REc|||{Coronary artery disease, susceptibility to} (3); Tumoral calcinosis,|hyperphosphatemic, 211900 (3) | ||
13.23|5|7|03|13q13.3-q14.1|LHFP|P|Lipoma HMGIC fusion partner||606710|REc|||| | ||
13.24|1|6|09|13q12|MCI2|P|Myocardial infarction, susceptibility to, 2||608557|Fd|defined by 4-SNP haplotype HapA||{Myocardial infarction, susceptibility to, 2} (2)| | ||
13.25|6|18|98|13q12.12|MIPEP|P|Mitochondrial intermediate peptidase||602241|A|||| | ||
13.26|6|15|99|13q12.13|MTMR6|C|Myotubularin-related protein 6||603561|R, REc, Psh|||| | ||
13.27|2|1|00|13q12.12|SACS, ARSACS|P|Sacsin||604490|LD, Fd|||Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)| | |1(Sacs)|
13.28|10|13|97|13q12.12|SGCG, LGMD2C, DMDA1, SCG3|C|Sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)||608896|Fd, LD, A|||Muscular dystrophy, limb-girdle, type 2C, 253700 (3)| | ||
13.29|1|31|01|13q12.13|WASF3, WAVE3, SCAR3|P|Wiskott-Aldrich syndrome protein family, member 3||605068|A|||| | ||
13.30|12|14|00|13q12.3|UBL3|P|Ubiquitin-like 3||604711|REa, R|||| | |5(Ubl3)|
13.31|10|12|09|13q12-q14|ATOD5|P|Dermatitis, atopic, 5||605844|Fd|max lod at D13S218||{Dermatitis, atopic, susceptibility to, 5} (2)| | ||
13.32|8|2|13|13q13.3|MADH9, SMAD9, MADH6, PPH2|P|Mothers against decapentaplegic, Drosophila, homolog of, 9||603295|R, A|||Pulmonary hypertension, primary, 2, 615342 (3)| | ||
13.33|5|1|08|13q14.11|RGC32|P|Response gene to complement 32||610077|Psh, R|||| | ||
13.34|3|29|99|13q14.13|TPT1, HRF|P|Tumor protein, translationally-controlled 1||600763|Psh, R|||| | ||
13.35|7|11|95|13q12.11|D13S1056E, TG737|C|Probe hTg737 (polycystic kidney disease, autosomal recessive, in|mouse TG737, human homolog of)|600595|A|||| | |14(TgN737Rpw)|
13.36|4|17|09|13q12.2|IPF1, MODY4|P|Insulin promoter factor 1, homeodomain transcription factor||600733|Psh, A|||Pancreatic agenesis, 260370 (3); MODY, type IV, 606392 (3); {Diabetes|mellitus, type II, susceptibility to}, 125853 (3) | |5(Ipf1)|
13.37|7|27|09|13q12.13|NUPL1, KIAA0410|P|Nucleoporin-like 1||607615|R, REc|||| | ||
13.38|7|27|09|13q12.12|RNF17|P|RING finger protein-17||605793|R, REc|||| | ||
13.39|11|8|00|13q12.12|ATP12A, ATP1AL1|C|ATPase, H+/K+ transporting, nongastric, alpha polypeptide||182360|REa, Fd|||| | ||
13.40|9|23|08|13q12.11|ADHD6|P|Attention deficit-hyperactivity disorder, susceptibility to, 6||612312|Fd|max lod at rs1974047||{Attention deficit-hyperactivity disorder, susceptibility to, 6} (2)| | ||
13.41|2|22|10|13q12.11|CFEOM3C, FEOM4|L|Fibrosis of extraocular muscles, congenital, 3C||609384|Ch|||Fibrosis of extraocular muscles, congenital, 3C (2)| | ||
13.42|2|7|06|13q12.11|CRYL1|C|Crystallin, lambda-1||609877|R, REc, H|||| | |14(Cryl1)|
13.43|2|6|08|13q12.11|MPHOSPH8, TWA3|P|M-phase phosphoprotein 8||611626|REc|||| | ||
13.44|4|24|08|13q12.11|MRP63|C|Mitochondrial ribosomal protein 63||611997|R, REc|10 pseudogenes||| | ||
13.45|12|18|08|13q12.11|PSPC1, PSP1|P|Paraspeckle component 1||612408|REc|||| | ||
13.46|10|17|02|13q12.13|RNF6|C|RING finger protein-6||604242|A, REn|||Esophageal carcinoma, somatic, 133239 (3)| | ||
13.47|8|3|12|13q12.11|SAP18|P|Sin3-associated polypeptide, 18kD||602949|REc|||| | ||
13.48|8|30|01|13q12.12|TAJ, TROY|P|Toxicity and JNK inducer||606122|REc|||| | |14(Troy)|
13.49|11|19|11|13q12.12|C1QTNF9A, CTRP9, C1QTNF9|P|C1q- and tumor necrosis factor-related protein 9A||614285|REc|||| | |14(C1qtnf9a)|
13.50|8|5|11|13q12.12|C1QTNF9B, CTRP9B|P|C1q- and tumor necrosis factor-related protein 9B||614148|REc|||| | ||
13.51|8|25|11|13q12.12|MYP20|P|Myopia 20, autosomal dominant||614166|Fd|associated wtih rs9318086||Myopia 20, autosomal dominant (2)| | ||
13.52|3|29|10|13q12.12|SPATA13, ASEF2|P|Spermatogenesis-associated protein 13||613324|REc|||| | ||
13.53|5|29|12|13q12.13|FAM123A, AMER2|P|Family with sequence similarity 123, member A (APC membrane|recruitment protein 2)|614659|REc|||| | ||
13.54|4|25|05|13q12.12|CENPJ, CPAP, MCPH6, SCKL4|C|Centromeric protein J||609279|Fd, REc|||Microcephaly 6, primary, autosomal recessive, 608393 (3);|Seckel syndrome 4, 613676 (3) | ||
13.55|12|28|08|13q12.2|LNX2, PDZRN1|P|Ligand of numb protein X2||609733|REc|||| | ||
13.56|1|31|11|13q12.2|POLR1D, RPA16, RPAC2, TCS2|P|Polymerase I, RNA, subunit D||613715|REc|||Treacher Collins syndrome 2, 613717 (3)| | ||
13.57|12|18|08|13q12.2|RASL11A|P|RAS-like, family 11, member A||612403|REc|||| | ||
13.58|4|17|00|13q12.2-q13|MBS, MBS1|L|Moebius syndrome||157900|Ch|||?Moebius syndrome (2)| | ||
13.59|10|15|13|13q14.2|SUCLA2, MTDPS5|P|Succinate-CoA ligase, ADP-forming, beta subunit||603921|REc|||Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with|or without methylmalonic aciduria), 612073 (3) | ||
13.60|10|16|00|13q13.1|AS3|P|Androgen-induced prostate proliferative shutoff-associated protein||605333|REc|||| | ||
13.61|1|22|09|13q12.3|B3GALTL, B3GTL, B3GLCT|P|UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase-like||610308|REc|||Peters-plus syndrome, 261540 (3)| | ||
13.62|4|13|10|13q13.1|BRCA2, FANCD1, BROVCA2, GLM3, PNCA2|C|Breast cancer-2, early onset||600185|Fd|||{Breast-ovarian cancer, familial, 2}, 612555 (3); Fanconi anemia,|complementation group D1, 605724 (3); Prostate cancer, 176807 (3); {Breast cancer, male, susceptibility to}, 114480 (3); Wilms tumor, 194070 (3);|{Medulloblastoma}, 155255 (3); {Glioblastoma 3}, 613029 (3); {Pre-B-cell acute lymphoblastic leukemia} (3); Pancreatic cancer, 613347 (3)|5(Brca2)|
13.63|8|21|98|13q12.2|CDX2, CDX3|C|Caudal type homeo box transcription factor 2||600297|A, Psh|||| | |5(Cdx2)|
13.64|1|16|07|13q12.3|HSPH1, HSP105, KIAA0201|P|Heat-shock 105/110kD protein 1||610703|R, REc|||| | ||
13.65|8|21|12|13q12.3|KATNAL1|P|Katanin p60 subunit A-like 1||614764|REc|||| | ||
13.66|5|3|10|13q12.3|POMP, UMP1|P|Proteasome maturation protein||613386|REc|||Keratosis linearis with ichthyosis congenita and sclerosing|keratoderma, 601952 (3) | ||
13.67|8|21|98|13q12.3|SLC7A1, ATRC1|C|Solute carrier family 7 (cationic amino acid transporter, y+ system),|member 1|104615|Fd, A, REa|distal to ATP1AL1||| | |5(Rec1)|
13.68|7|26|02|13q13.3|SPG20|P|Spartin||607111|REc|||Troyer syndrome, 275900 (3)| | ||
13.69|3|22|06|13q13.1-q13.2|STARD13, DLC2|P|Start domain-containing protein 13||609866|REc|||| | ||
13.70|6|6|00|13q13.3|CCNA1|P|Cyclin A1||604036|R|||| | ||
13.71|3|20|95|13q13.2|RFC3|P|Replication factor C3, 38kD (activator 1, 38kD)||600405|Psh, A|||| | ||
13.72|12|17|95|13q12.2|GTF3A, TFIIIA|P|General transcription factor IIIA||600860|A|||| | ||
13.73|12|21|09|13q13.3|DCLK1, DCAMKL1, CLICK1, CL1, KIAA0369|C|Doublecortin-like kinase 1||604742|R, A|||| | |3(Dclk1)|
13.74|10|18|96|13q13.3|MAB21L1|P|mab-21 (C. elegans)-like 1||601280|REa, Fd, R|||| | ||
13.75|7|1|11|13q34|PROZ, PZ|P|Protein Z||176895|REc|||[Protein Z deficiency], 614024 (1)| | ||
13.76|12|7|03|13q13.3|STOML3, SRO|P|Stomatin-like protein 3||608327|REc|||| | ||
13.77|7|4|95|13q13-q14.3|ENUR1|P|Enuresis, nocturnal, 1||600631|Fd|||Enuresis, nocturnal, 1 (2)| | ||
13.78|7|27|09|13q13.3|EXOSC8, OIP2, RRP43|P|Exosome component 8||606019|R, REc|||| | ||
13.79|9|14|12|13q13.1|FRY, C13orf14|P|Furry, Drosophila, homolog of||614818|REc|||| | ||
13.80|6|27|08|13q13.1|HPRHP|P|Hypophosphatemic rickets and hyperparathyroidism||612089|Ch|?due to altered KLOTHO expression||Hypophosphatemic rickets and hyperparathyroidism (2)| | ||
13.81|9|14|12|13q13.1|LGR8, GREAT|P|Leucine-rich repeat-containing G protein-coupled receptor 8||606655|REc|||Cryptorchidism, 219050 (3)| | ||
13.82|3|3|03|13q13.3|TRPC4, TRP4|P|Transient receptor potential cation channel, subfamily C, member 4||603651|A|||| | ||
13.83|3|14|06|13q13.3|NBEA|C|Neurobeachin||604889|REc, R, REa, Ch|site of FRA13A||| | |3(Nbea)|
13.84|8|14|13|13q14.11|COG6, COD2, KIAA1134, CDG2L, SHNS|P|Component of oligomeric golgi complex 6||606977|R, REc|||Congenital disorder of glycosylation, type IIl, 614576 (3);|Shaheen syndrome, 615328 (3) | ||
13.85|2|28|03|13q14.11|EPSTI1|P|Epithelial stromal interaction 1||607441|REc, REa|||| | ||
13.86|7|26|10|13q13.3|FAM48A, P38IP, C13orf19|P|Family with sequence similarity 48, member A||613417|A, R|||| | ||
13.87|5|26|05|13q13.3|FREM2|P|FRAS1-related extracellular matrix protein 2||608945|REc|||Fraser syndrome, 219000 (3)| | |3(my)|
13.88|6|9|09|13q13.3|IBD27|P|Inflammatory bowel disease 27||612796|Fd|||{Inflammatory bowel disease 27} (2)| | ||
13.89|4|24|08|13q14.11|MRPS31|P|Mitochondrial ribosomal protein S31||611992|REc|4 pseudogenes||| | ||
13.90|2|11|13|13q13.3-q21|PAPA5|P|Polydactyly, postaxial, type A5||263450|Fd|between D13S1288 and D13S632||Polydactyly, postaxial, type A5 (2)| | ||
13.91|3|23|09|13q13.3|POSTN, OSF2, PN|P|Periostin||608777|R, REc|||| | ||
13.92|5|24|13|13q13.3|UFM1|P|Ubiquitin-fold modifier 1||610553|REc|||| | ||
13.93|10|8|08|13q14|BMIQ2|P|Body mass index quantitative trait locus 2||606643|Fd|max lod at D13S257||[Body mass index QTL2] (2)| | ||
13.94|6|30|08|13q14|BMND9|P|Bone mineral density quantitative trait locus 9||612110|Fd|associated with rs9594759||[Bone mineral density QTL 9] (2)| | ||
13.95|12|7|07|13q14.3|CKAP2, TMAP, LB1|P|Cytoskeleton-associated protein 2||611569|A|||| | ||
13.96|10|28|08|13q14.2|CLLD6, C13orf1|P|Chronic lymphocytic leukemia deletion region gene 6||607866|REc|||| | ||
13.97|8|29|02|13q14.2|CYSLTR2, CYSLT2|P|Cysteinyl leukotriene receptor 2||605666|R|||| | ||
13.98|10|28|08|13q14|CLLS2, D13S25, DBM|P|Leukemia, chronic lymphocytic, susceptibility to, 2||109543|D|>530kb telomeric to RB1||{Leukemia, chronic lymphocytic, susceptibility to, 2} (2)| | ||
13.99|5|6|11|13q14|DEL13q14, C13DELq14|P|Chromosome 13q14 deletion syndrome||613884|Ch|||Chromosome 13q14 deletion syndrome (4)| | ||
13.100|4|19|01|13q14.2-q14.3|DLEU1, LEU1|P|Deleted in lymphocytic leukemia 1||605765|REc|||| | ||
13.101|4|19|01|13q14.2|DLEU2, LEU2, BCMSUN|P|Deleted in lymphocytic leukemia 2||605766|REc|||| | ||
13.102|10|24|00|13q14|GER|P|Gastroesophageal reflux||109350|Fd|||Gastroesophageal reflux (2)| | ||
13.103|8|14|00|13q14.2|ITM2B, BRI, ABRI, FBD|P|Integral membrane protein 2B (BRI gene)||603904|A|||Dementia, familial British, 176500 (3); Dementia, familial Danish,|117300 (3) | ||
13.104|12|18|08|13q14.1-q14.2|LRCH1, KIAA1016|C|Leucine-rich repeats and calponin homology domain-containing 1||610368|R, REc|||| | ||
13.105|2|1|01|13q14.12|NUFIP1, NUFIP|P|Nuclear fragile X mental retardation protein-interacting protein 1||604354|REa, A|pseudogene on 6q12||| | ||
13.106|7|26|10|13q14.2|RCBTB1, CLLD7, GLP|P|RCC! domain- and BTB domain-containing protein 1||607867|REc|||[Beta-glycopyranoside tasting] (3); {Alcohol dependence,|susceptibility to}, 103780 (3) | ||
13.107|11|2|98|13q13.3|RFXAP|P|Regulatory factor X-associated protein||601861|R|||Bare lymphocyte syndrome, type II, complementation group D, 209920|(3) | ||
13.108|12|4|96|13q14|RIEG2, RGS2|C|Rieger syndrome, type 2||601499|Fd, Ch|||Rieger syndrome, type 2 (2)| | ||
13.109|10|28|08|13q14.2|SETDB2, CLLD8|P|SET domain protein, bifurcated, 2||607865|REc|||| | ||
13.110|6|4|99|13q14.11|SLC25A15, ORNT1, HHH|C|Solute carrier family 25 (mitochondrial carrier), member 15|(ornithine transporter 1)|603861|D, Ch, REc|with deficiency of factors VII and X in 3 unrelated cases||Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970|(3) | ||
13.111|4|27|12|13q14|SPG24|P|Spastic paraplegia 24, autosomal recessive||607584|Fd|||Spastic paraplegia 24, autosomal recessive (2)| | ||
13.112|2|19|07|13q14.11|TSC22D1, TSC22|P|TSC22 domain family, member 1||607715|A|||| | ||
13.113|12|7|07|13q14.11|TNFSF11, OPGL, TRANCE, OPTB2|P|Tumor necrosis factor ligand superfamily, member 11 (osteoprotegerin|ligand)|602642|R, H|||Osteopetrosis, autosomal recessive 2, 259710 (3)| | |14(Trance)|
13.114|10|23|87|13q14|XRS|L|X-ray sensitivity||194370|Ch|||| | ||
13.115|7|19|12|13q14.3|CTAGE3|P|Cutaneous T-cell lymphoma-associated antigen 3||608857|REc|||| | ||
13.116|5|31|06|13q14.2|HTR2A|C|5-hydroxytryptamine (serotonin) receptor-2A||182135|REa, A, Fd|||{Schizophrenia, susceptibility to}, 181500 (3); {Obsessive-compulsive|disorder, susceptibility to}, 164230 (3); {Seasonal affective disorder, susceptibility to}, 608516 (3); {Alcohol dependence, susceptibility to}, 103780|(3); {Anorexia nervosa, susceptibility to}, 606788 (3); {Major depressive disorder, response to citalopram therapy in}, 608516 (3)|14(Htr2)|
13.117|3|11|03|13q14.3|LECT1, CHM1|P|Leukocyte cell derived chemotaxin 1|(chondromodulin)|605147|A|||| | ||
13.118|3|23|09|13q14.2|MLNR, GPR38|P|Motilin receptor||602885|A|||| | ||
13.119|8|2|13|13q14.11|DNAJC15, MCJ|P|DNAJ/HSP40 homolog, subfamily C, member 15||615339|A, REc|||| | ||
13.120|8|28|02|13q14.11|FOXO1A, FKHR|P|Forkhead box O1A (forkhead in rhabdomyosarcoma)||136533|Ch|chimeric with PAX3 in t(2;13); fuses with PAX3||Rhabdomyosarcoma, alveolar, 268220 (3)| | ||
13.121|5|22|03|13q14.2|PHF11, NYREN34|P|PHD finger protein 11||607796|REc|||[IgE levels QTL], 147050 (3); {Asthma}, 600807 (3)| | ||
13.122|1|6|09|13q14.3|RNASEH2B, DLEU8, FLJ11712, AGS2|P|Ribonuclease H2, subunit B||610326|REc, Fd|||Aicardi-Goutieres syndrome 2, 610181 (3)| | ||
13.123|6|16|97|13q14.2|RB1|C|Retinoblastoma-1||614041|Ch, F, Fd|||Retinoblastoma, 180200 (3); Osteosarcoma, somatic, 259500 (3);|Bladder cancer, somatic, 109800 (3); Small cell cancer of the lung, somatic, 182280 (3); Retinoblastoma, trilateral, 180200 (3)| |14(Rb1)|
13.124|10|23|87|13q14.13|LCP1|C|Lymphocyte cytosolic protein-1 (plasmin)||153430|F, D|||| | ||
13.125|1|8|01|13q14.11|MTRF1|P|Translational release factor, mitochondrial, 1||604601|R|||| | ||
13.126|12|10|13|13q14.11|AKAP11, AKAP220|P|A-kinase anchor protein 11||604696|REc, R|||| | ||
13.127|9|23|13|13q14.11|LACC1, C13orf31|P|Laccase (multicopper reductase) domain-containing protein 1||613409|REc|||| | ||
13.128|7|6|10|13q14.11|CCDC122|P|Coiled-coil domain-containing protein 122||613408|REc|||| | ||
13.129|8|5|99|13q14.13|CPB2, CPU, TAFI|C|Carboxypeptidase B2, plasma (carboxypeptidase U)||603101|Psh|||| | ||
13.130|8|8|13|13q14.11|ELF1|P|E74-like factor 1||189973|A, REc|||| | ||
13.131|4|4|07|13q14.11|ENOX1, CNOX|P|ECTO-NOX disulfide-thiol exchanger 1||610914|REc|||| | ||
13.132|10|23|87|13q14.2|ESD|C|Esterase D; S-formylglutathione hydrolase||133280|S, F, D|proximal to RB1, WND||| | |14(Es10)|
13.133|7|8|10|13q14.11|LPRS6|P|Leprosy, susceptibility to, 6||613407|Fd|associated with rs9533634 and rs3764147||{Leprosy, susceptiblity to, 6} (2)| | ||
13.134|3|8|07|13q14.13|SLC25A30, KMCP1|P|Solute carrier family 25 (mitochondrial carrier, kidney), member 30||610793|REc|||| | ||
13.135|7|27|09|13q14.13|COG3, SEC34|P|Component of oligomeric golgi complex 3||606975|REc|||| | ||
13.136|5|25|13|13q14.12-q14.13|GTF2F2, TF2F2, RAP30|P|General transcription factor IIF, polypeptide 2, 30kD||189969|REc|||| | ||
13.137|4|2|01|13q14.3|DDX26, DICE1|P|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26||604331|Ch|||{Nonsmall cell lung cancer} (2)| | ||
13.138|11|3|11|13q14.2|LPAR6, P2RY5, P2Y5, LAH3, ARWH1|C|Lysophosphatidic acid receptor 6||609239|REc, Fd|in intron 17 of RB gene||Hypotrichosis 8, 278150 (3); Woolly hair, autosomal recessive 1,|with or without hypotrichosis, 278150 (3) | ||
13.139|8|1|08|13q14.2|CAB39L|P|Calcium-binding protein 39-like protein||612175|REc|||| | ||
13.140|3|23|06|13q14.2|MED4, DRIP36, HSPC126|P|Mediator of RNA polymerase II transcription, subunit 4, S. cerevisiae,|homolog of|605718|REc|||| | ||
13.141|7|17|02|13q14.3|NEK3|P|Never in mitosis gene A-related kinase 3||604044|REa, R|||| | ||
13.142|8|15|03|13q14.2-q14.1|AUTS3|P|Autism, susceptibility to, 3||608049|Ch|||{Autism susceptibility 3} (2)| | ||
13.143|12|14|10|13q14.3|ALG11, KIAA1266, CDG1P|P|Alg11, S. cerevisiae, homolog of||613666|R, REc|||Congenital disorder of glycosylation, type Ip, 613661 (3)| | ||
13.144|1|29|09|13q14.2|ARL11, ARLTS1|P|ADP-riposylation factor-like 11||609351|REc|||| | ||
13.145|6|15|99|13q14.3|GUCY1B2|C|Guanylate cyclase 1, soluble, beta-2||603695|A, Fd|||| | ||
13.146|8|5|97|13q14.2|KPNA3|P|Karyopherin (importin) alpha-3||601892|A|||| | ||
13.147|3|23|09|13q14.2|MIR15A, MIRN15A|P|Micro RNA 15A||609703|REc|||| | ||
13.148|3|23|09|13q14.2|MIR16-1, MIRN16-1|P|Micro RNA 16-1||609704|REc|||| | ||
13.149|7|1|11|13q14.3|OLFM4, GC1, GW112|P|Olfactomedin 4||614061|A, R|||| | ||
13.150|6|15|99|13q14.3|PCDH8|P|Protocadherin 8||603580|REc, H|||| | |14(Pcdh8)|
13.151|1|27|11|13q14.2|RCBTB2, CHC1L|P|RCC1 domain- and BTB domain-containing protein 2||603524|REc|||| | ||
13.152|7|22|09|13q14.3|STQTL20|P|Stature quantitative trait locus 20||612894|Fd|associated with rs3118914||{Stature QTL 20} (2)| | ||
13.153|7|20|12|13q14.3|SUGT1, SGT1|P|Suppressor of G2 allele of Skp1, S. Cerevisiae, homolog of||604098|REc|||| | ||
13.154|8|20|07|13q14.2|TRIM13, RFP2, LEU5|C|Tripartite motif-containing protein 13||605661|REc, H|||| | |14(Trim13)|
13.155|4|17|07|13q14.3|VPS36, EAP45|P|Vacuolar protein sorting 36, S. cerevisiae, homolog of||610903|R, REc|||| | ||
13.156|5|24|13|13q14.3|WDFY2|P|WD repeat- and FYVE domain-containing protein 2||610418|REc, R|||| | ||
13.157|4|30|02|13q14.3|ATP7B, WND|C|ATPase, Cu++ transporting, beta polypeptide||606882|F, Fd|||Wilson disease, 277900 (3)| | |8(Atp7b)|
13.158|3|15|10|13q21|ATXN8|P|Ataxin 8||613289|REc|CAG repeat results in polyglutamine expansion protein||Spinocerebellar ataxia 8, 608768 (3)| | ||
13.159|3|9|10|13q21.33|ATXN8OS, SCA8, KLHL1AS|C|Ataxin 8 opposite strand||603680|REc|due to CTG repeat in untranslated DNA||Spinocerebellar ataxia 8, 608768 (3)| | ||
13.160|10|13|00|13q21.33|KLHL1|P|Kelch-like 1||605332|REc|||| | ||
13.161|6|4|02|13q21|BRCA3, BRCAX|L|Breast cancer, type 3||605365|Fd|||?Breast cancer, type 3 (2)| | ||
13.162|5|26|13|13q22.3|KCTD12, PFET1, KIAA1778, C13orf2|P|Potassium channel tetramerization domain-containing protein 12||610521|REc, A|||| | |14(Kctd12)|
13.163|11|7|05|13q21|SLI3|P|Specific language impairment QTL, 3||607134|Fd|max with D13S1317||Specific language impairment QTL, 3 (2)| | ||
13.164|2|3|03|13q22.1|DIS3, KIAA1008|P|Dis3, S. pombe, homolog of||607533|REc|||| | ||
13.165|2|3|03|13q22.1|PIBF1|P|Progesterone-induced blocking factor 1||607532|REc|||| | ||
13.166|9|9|08|13q22.2|LMO7, FBXO20, FBX20, KIAA0858|C|LIM domain only 7||604362|REa, REc|||| | |14(Lmo7)|
13.167|10|27|97|13q21-q32|PAPA2|P|Postaxial polydactyly, type A2||602085|Fd|||Postaxial polydactyly, type A2 (2)| | ||
13.168|6|15|99|13q21.32|PCDH9|P|Protocadherin 9||603581|A, D, H|||| | |14(Pcdh9)|
13.169|1|29|08|13q21.1|PCDH17, PCDH68|P|Protocadherin 17||611760|R, REc|||| | ||
13.170|2|28|97|13q31.1|POU4F1, BRN3A|C|POU domain, class 4, transcription factor 1||601632|Psh, REc|||| | ||
13.171|1|5|12|13q22.3|CLN5|C|CLN5 gene||608102|Fd|||Ceroid lipofuscinosis, neuronal, 5, 256731 (3)| | ||
13.172|4|19|12|13q21.2|DIAPH3, DIA2, DRF3, AUNA1, NSDAN|P|Diaphanous, Drosophila, homolog of, 3||614567|Fd, REc|||Auditory neuropathy, autosomal dominant, 1, 609129 (3)| | ||
13.173|1|30|12|13q21.2|PCDH20, PCDH13|P|Protocadherin 20||614449|REc|||| | ||
13.174|1|1|12|13q21.2|TDRD3|P|Tudor domain-containing protein 3||614392|REc|||| | ||
13.175|9|9|10|13q21.3-q22.1|C13orf37, MOZART1|P|Mitotic spindle-organizing protein associated with a ring of|gamma-tubulin|613448|REc|||| | ||
13.176|7|18|06|13q22|ACTD|P|Acetabular dysplasia||142700|Fd|||Acetabular dysplasia (2)| | ||
13.177|3|11|09|13q22.2|COMMD6|P|COMM domain-containing protein 6||612377|REc, H|||| | |14(Commd6)|
13.178|5|21|99|13q21.33|DACH|P|Dachshund, Drosophila, homolog of||603803|R, A|||| | |13(Dach)|
13.179|3|16|10|13q22.3|EDNRB, HSCR2, ABCDS, WS4A|C|Endothelin receptor type B||131244|REa, Ch, LD|?piebald lethal in mouse||{Hirschsprung disease, susceptibility to, 2}, 600155 (3); ABCD|syndrome, 600501 (3); Waardenburg syndrome, type 4A, 277580 (3) | ||
13.180|2|15|01|13q22.3|FBXL3A, FBL3A, FBL3|P|F-box and leucine-rich repeat protein 3A||605653|A|||| | |14(Fbxl3)|
13.181|2|3|03|13q22.1|KLF12, AP2REP|P|Kruppel-like factor 12||607531|A|||| | ||
13.182|8|19|13|13q22.3|MYCBP2, PAM, KIAA0916|P|Myc-binding protein 2||610392|REc|||| | ||
13.183|8|10|99|13q22.3|SCEL|P|Sciellin||604112|A|||| | ||
13.184|10|15|01|13q22.3|TNFRSF11B, OPG, OCIF|P|Tumor necrosis factor receptor superfamily, member 11B||602543|A|||| | ||
13.185|3|11|09|13q22.2|UCHL3|P|Ubiquitin carboxyl-terminal esterase L3||603090|REc, H|||| | |14(Uchl3)|
13.186|12|20|04|13q22-q32|PAND1|P|Panic disorder syndrome 1||167870|?locus on 22|||Panic disorder syndrome 1 (2)| | ||
13.187|5|26|13|13q22.1|BORA, C13orf34|P|Aurora borealis||610510|REc|||| | ||
13.188|6|9|06|13q31.1|NDFIP2, N4WBP5A, KIAA1165|C|NEDD4 family-interacting protein 2||610041|R, REc|||| | ||
13.189|12|24|08|13q22.2|TBC1D4, AS160, KIAA0603|P|TPC1 domain family, member 4||612465|REc, R|||| | ||
13.190|8|6|13|13q22.3|IRG1|P|Immunoresponsive gene 1, mouse, homolog of||615275|REc|||| | ||
13.191|11|30|06|13q34|ADPRHL1, ARH2|P|ADP-ribosylhydrolase-like 1||610620|REc|||| | ||
13.192|5|22|03|13q32.1|ITR|P|Intimal thickness-related receptor||607787|A|||| | ||
13.193|2|21|10|13q31.1|SLITRK1, KIAA1910, TTM|P|SLIT- and NTRK-like family, member 1||609678|REc, H|||Tourette syndrome, 137580 (3); Trichotillomania, 613229 (3)| | |17(Slitrk1)|
13.194|12|28|08|13q31.2|SLITRK5, KIAA0918|C|SLIT- and NTRK-like family, member 5||609680|R, REc, H|||| | |14(Slitrk5)|
13.195|11|22|13|13q31.1|SLITRK6, DFNMYP|P|SLIT- and NTRK-like family, member 6||609681|REc, H|||Deafness and myopia, 221200 (3)| | |14(Slitrk6)|
13.196|8|21|98|13q32.1|DCT, TYRP2|P|Dopachrome tautomerase (dopachrome delta-isomerase; tyrosinase-related|protein 2)|191275|A|||| | |14(Tyrp2)|
13.197|6|11|98|13q31-q32|MCOR|P|Microcoria, congenital||156600|Fd|||Microcoria, congenital (2)| | ||
13.198|1|29|01|13q32.1|SOX21|P|SRY-box 21||604974|Psh, A|||| | ||
13.199|7|27|09|13q32.2|STK24, MST3, MST3B|P|Serine/threonine protein kinase 24||604984|REc|||| | ||
13.200|12|12|03|13q31-q33|NYS4|P|Nystagmus 4, congenital, autosomal dominant||193003|Fd|||Nystagmus 4, congenital (2)| | ||
13.201|5|25|09|13q31.1|SPRY2|C|Sprouty, Drosophila, homolog of, 2||602466|R, REc|||| | ||
13.202|5|13|13|13q31.1|LNCR13Q1|P|Long noncoding RNA on 13q (TCONS_00021856)||615230|REc|||| | ||
13.203|3|23|09|13q31.3|MIR17, MIR91, MIRN17|P|Micro RNA 17||609416|A, REc|within C13orf25; sequence encodes 2 micro RNAs||| | ||
13.204|11|3|11|13q31.3|MIR17HG, MIRH1, MIHG1, MIRHG1, C13orf25, FGLDS2|P|Micro RNA 17 host gene||609415|A, REc|||Feingold syndrome 2, 614326 (3)| | ||
13.205|3|23|09|13q31.3|MIR18A, MIRN18A|P|Micro RNA 18A||609417|A, REc|within C13orf25||| | ||
13.206|3|23|09|13q31.3|MIR19A, MIRN19A|P|Micro RNA 19A||609418|A, REc|within C13orf25||| | ||
13.207|3|23|09|13q31.3|MIR19B1, MIRN19B1|P|Micro RNA 19B1||609419|A, REc|within C13orf25||| | ||
13.208|3|23|09|13q31.3|MIR20A, MIRN20A|P|Micro RNA 20A||609420|A, REc|within C13orf25||| | ||
13.209|9|7|10|13q31.3|MIR92A1, MIR92-1, MIRN92-1|P|Micro RNA 92A1||609422|A, REc|within C13orf25||| | ||
13.210|9|28|05|13q31.3|PPR2|P|Photoparoxysmal response 2||609572|Fd|max lod at D13S1230||Photoparoxysmal response 2 (2)| | ||
13.211|3|8|07|13q31.3-q32.1|MMVP3|P|Mitral valve prolapse, myxomatous 3||610840|Fd|max lod at D13S132||Mitral valve prolapse, myxomatous 3 (2)| | ||
13.212|9|1|00|13q32.1|ABCC4, MRP4, MOATB|C|ATP-binding cassette, subfamily C, member 4||605250|R, A|||| | ||
13.213|12|23|05|13q32.3|CLYBL, CLB|P|Citrate lyase beta-like||609686|R, REc|||| | ||
13.214|3|12|01|13q32.1|DNAJC3, PRKRI, P58|P|DnaJ, E. coli, homolog of, subfamily C, member 3|(protein kinase inhibitor p58)|601184|A|||| | ||
13.215|6|15|99|13q31.3|GPC5|P|Glypican 5||602446|A|||| | ||
13.216|10|15|09|13q31.3-q32.1|GPC6, OMIMD1|P|Glypican 6||604404|R, A|||Omodysplasia 1, 258315 (3)| | ||
13.217|6|18|98|13q32.3|GPR18|P|G protein-coupled receptor-18||602042|A|||| | |14(Gpr18)|
13.218|6|1|12|13q32|KTCN7|P|Keratoconus 7||614629|Fd|max lod at D13S159||Keratoconus 7 (2)| | ||
13.219|6|21|01|13q32.3|PCCA|C|Propionyl Coenzyme A carboxylase, alpha polypeptide||232000|REa, D, A, Fd|||Propionicacidemia, 606054 (3)| | |14(Pcca)|
13.220|12|15|98|13q32|SCZD7|P|Schizophrenia susceptibility locus, chromosome 13q-related||603176|Fd|||{Schizophrenia}, 181500 (2)| | ||
13.221|2|21|06|13q32|SLEB5|P|Systemic lupus erythematosus, susceptibility to, 5||609903|Fd|max lod at D13S892||{Systemic lupus erythematosus, susceptibility to, 5} (2)| | ||
13.222|10|7|05|13q32.3|ZIC2, HPE5|P|ZIC family member 2||603073|Ch|||Holoprosencephaly-5, 609637 (3)| | ||
13.223|6|30|05|13q32.1|HS6ST3|P|Heparan sulfate 6-O-sulfotransferase 3||609401|REc|||| | ||
13.224|2|17|09|13q32-q33|STQTL4|P|Stature quantitative trait locus 4||606258|Fd|max lod at D13S779 and D13S797||{Stature QTL 4} (2)| | ||
13.225|9|15|93|13q33.1|TPP2|C|Tripeptidyl peptidase II||190470|REa, A|||| | |1(Tpp2)|
13.226|8|4|99|13q33.3|TNFSF13B, BLYS, BAFF|P|Tumor necrosis factor ligand superfamily, member 13B||603969|TM|||| | ||
13.227|10|27|08|13q32.1|GPR80|P|G protein-coupled receptor 80||606922|REc|||| | ||
13.228|8|27|09|13q32.1|UGGT2, HUGT2|P|UDP-glucose glycoprotein glucosyltransferase 2||605898|REc|||| | ||
13.229|12|10|13|13q32.2|FARP1, CDEP|P|FERM, ARHGEF, and pleckstrin domain-containing protein 1||602654|REc|||| | ||
13.230|4|26|10|13q32.3|A2LD1, GGACT|P|AIG1-like domain-containing protein 1||613378|REc|||| | ||
13.231|9|29|10|13q32.3|GPR183, EBI2|P|G protein-coupled receptor 183||605741|R|||| | ||
13.232|7|27|09|13q32.3|ZIZ1, KIAA1058|P|Zizimin 1||607325|R, REc|||| | ||
13.233|7|12|13|13q33.1|ERCC5, XPG, COFS3|C|Excision-repair, complementing defective, in Chinese hamster,|number 5|133530|S, A|||Xeroderma pigmentosum, group G, 278780 (3); Xeroderma pigmentosum,|group G/Cockayne syndrome, 278780 (3) | |1(Ercc5)|
13.234|11|5|97|13q33.3|EFNB2, EPLG5, LERK5, HTKL|P|eph-related receptor tyrosine kinase ligand 5 (ephrin-B2)||600527|A|||| | |8(Lerk5)|
13.235|10|21|99|13q33.1|ITGBL1, TIED|P|Integrin, beta-like 1||604234|A|||| | ||
13.236|2|18|08|13q33.1|KDELC1, EP58|P|KDEL motif-containing 1||611613|REc|||| | ||
13.237|3|16|10|13q33.1|SLC10A2, NTCP2, PBAM|C|Solute carrier family 10 (sodium/bile acid cotransporter family),|member 2|601295|REa, A|||Bile acid malabsorption, primary, 613291 (3)| | |8(Slc10a2)|
13.238|8|21|98|13q32.3|SLC15A1, HPECT1|P|Solute carrier family 15 (oligopeptide transporter), member 1||600544|REa, A|||| | ||
13.239|6|4|13|13q33.1|METTL21C, C13orf39|P|Methyltransferase-like 21C||615259|REc|||| | ||
13.240|11|11|13|13q33.1|NALCN, INNFD|P|Sodium leak channel, nonselective||611549|R, REc|||Neuroaxonal neurodegeneration, infantile, with facial dysmophism,|615419 (3) | ||
13.241|4|22|10|13q33.1-q34|OFC9|P|Orofacial cleft 9||610361|Fd|associated with rs1830756||Orofacial cleft 9 (2)| | ||
13.242|11|3|11|13q33.2|VUR5|P|Vesicoureteral reflux 5||614318|Fd|nearest marker rs4476030||Vesicoureteral reflux 5 (2)| | ||
13.243|9|8|11|13q33.3|ARGLU1|P|Arginine- and glutamate-rich protein 1||614046|REc|||| | ||
13.244|11|13|13|13q33.3|MYO16, MYAP3, KIAA0865|P|Myosin XVI||615479|REc, R|||| | ||
13.245|4|21|11|13q33.3|LIG4|P|Ligase IV, DNA, ATP-dependent||601837|A|||LIG4 syndrome, 606593 (3); {Multiple myeloma, resistance to}, 254500|(3); Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450 (3)| ||
13.246|7|27|09|13q34|ARHGEF7, PIXB, COOL1|P|Rho guanine nucleotide exchange factor 7|(PAK-interacting exchange factor, beta)|605477|R, REc|||| | ||
13.247|1|23|93|13q34|ATP4B|P|ATPase, H+, K+ transporting, beta||137217|A|||| | ||
13.248|7|27|09|13q34|ATP11A, ATPIS, ATPIH|C|ATPase, class VI, type 11A||605868|REc|||| | ||
13.249|7|15|09|13q34|CARS2|P|Cysteinyl-tRNA synthetase 2||612800|R, REc|||| | ||
13.250|8|8|13|13q34|CDC16, APC6|P|Cell division cycle 16, S. cerevisiae, homolog of||603461|REc|||| | ||
13.251|1|9|13|13q34|COL4A1, POREN1, HANAC, ICH|C|Collagen IV, alpha-1 polypeptide||120130|REa, A, REb, RE, Fd|||Porencephaly 1, 175780 (3); Brain small vessel disease with|hemorrhage, 607595 (3); Angiopathy, hereditary, with nephropathy, aneurysms, and muscle, 611773 (3); Brain small vessel disease with Axenfeld-Rieger|anomaly, 607595 (3); {Hemorrhage, intracerebral, susceptibility to}, 614519 (3) |8(Col4a1)|
13.252|3|18|13|13q34|COL4A2, POREN2, ICH|C|Collagen IV, alpha-2 polypeptide||120090|REa, A, RE, Fd|||Porencephaly 2, 614483 (3); {Hemorrhage, intracerebral,|susceptibility to}, 614519 (3) | |8(Col4a2)|
13.253|10|29|09|13q34|CUL4A|P|Cullin 4A||603137|Psh, A|||| | ||
13.254|5|19|09|13q33.2|DAOA, G72|P|D-amino acid oxidase activator||607408|Fd|||{Schizophrenia}, 181500 (2)| | ||
13.255|1|27|11|13q33.2|DAOAAS, G30|P|DAOA antisense RAN||607415|REn|||| | ||
13.256|9|15|11|13q34|DFNA33|P|Deafness, autosomal dominant 33||614211|Fd|maximum lod at D13S285||Deafness, autosomal dominant 33 (2)| | ||
13.257|4|15|11|13q34|F7|C|Coagulation factor VII||613878|D|||Factor VII deficiency, 227500 (3); {Myocardial infarction,|decreased susceptibility to}, 608446 (3) | ||
13.258|10|23|87|13q34|F10|C|Coagulation factor X||613872|D, A, REa|||Factor X deficiency, 227600 (3)| | |8(Cf10)|
13.259|8|9|05|13q33.1|FGF14, FHF4, SCA27|C|Fibroblast growth factor-14||601515|REa, H, Fd|||Spinocerebellar ataxia 27, 609307 (3)| | |14(Fhf4)|
13.260|2|15|96|13q34|GAS6, AXLLG, AXSF|P|Growth arrest-specific 6||600441|A|||| | |8(Gas6)|
13.261|4|2|07|13q34|GRK1, RHOK, RK|P|G protein-dependent receptor kinase 1 (rhodopsin kinase)||180381|REa, A|||Oguchi disease-2, 613411 (3)| | ||
13.262|11|16|05|13q34|ING1|C|Inhibitor of growth 1||601566|A, R|||Squamous cell carcinoma, head and neck, somatic, 275355 (3)| | ||
13.263|2|5|01|13q34|IRS2|P|Insulin receptor substrate 2||600797|R, REc|||{Diabetes mellitus, noninsulin-dependent}, 125853 (3)| | ||
13.264|2|9|92|13q34|LAMP1|C|Lysosome-associated membrane protein-1||153330|A, REa|||| | |8(Lamp1)|
13.265|9|26|11|13q34|MCF2L, OST, KIAA0362|P|MCF2-like protein||609499|R, REc|||| | ||
13.266|1|31|11|13q34|PCID2|P|PCI domain-containing protein 2||613713|REc|||| | ||
13.267|7|17|91|13q32.1|RAP2A|P|RAP2, member of RAS oncogene family (K-rev)||179540|A|||| | ||
13.268|7|27|09|13q34|RASA3|P|Ras p21 protein activator 3||605182|R, REc|||| | ||
13.269|6|9|98|13q34|SOX1|P|SRY (sex determining region Y)-box 1||602148|A|||| | ||
13.270|11|1|99|13q34|TFDP1, DP1, DRTF1|P|Transcription factor Dp-1||189902|A|pseudogene on 1q32.3||| | ||
13.271|2|1|11|13q34|UPF3A, RENT3A|P|UPF3 regulator of nonsense transcripts, yeast, homolog of, A||605530|REc|||| | ||
14.1|4|26|90|14p12|RNR2|C|Ribosomal RNA-2||180451|A|||| | ||
14.2|2|17|09|14p11.2-q13|ADIPQTL3, CAQ14|P|Adiponectin, serum level of, quantitative trait locus 3||606771|Fd|between D14S608 and D14S599||{Adiponectin, serum level of, QTL3} (2)| | ||
14.3|1|31|01|14q12-q13|ADAP6, ADAP100|C|A-kinase anchor protein 6||604691|R, REc|||| | ||
14.4|6|28|02|14q32.12|GOLGA5, RFG5, PTC5|P|Golgi autoantigen, golgin subfamily A, 5||606918|REc|fused with RET to form PTC5||Thyroid carcinoma, papillary, 188550 (3)| | ||
14.5|4|21|98|14q23.2-q23.3|ESR2|P|Estrogen receptor-2 (ER beta)||601663|REa, R|||| | ||
14.6|6|2|98|14q21.1|MGEA, MEA6|P|Meningioma-expressed antigen 6||602132|A|?pseudogenes on other chromosomes||| | ||
14.7|5|29|98|14q12|NOVA1|L|Neurooncological ventral antigen 1||602157|H|||| | |12(Nova1)|
14.8|6|15|99|14q21.3|RPS29|P|Ribosomal protein S29||603633|R,|||| | ||
14.9|12|3|01|14q32.33|BRF1, TAF3C, GTF3B, TF3B90|P|BRF1, S. cerevisiae, homolog of|(TATA box-binding protein-associated factor 3C)|604902|R|||| | ||
14.10|1|9|95|14q32.2|YY1|P|YY1 transcription factor||600013|REa, H|||| | |12(Yy1)|
14.11|3|30|11|14q11.2|RPGRIP1, LCA6, CORD13|C|Retinitis pigmentosa GTPase regulator-interacting protein||605446|R, REa|||Leber congenital amaurosis 6, 613826 (3); Cone-rod dystrophy 13,|608194 (3) | ||
14.12|9|2|09|14q11.2|TRNAP1, TRP1|C|tRNA proline-1||189930|REa, A, Fd|||| | ||
14.13|6|26|00|14q11.2|ZNF219|P|Zinc finger protein-219||605036|REc|||| | ||
14.14|5|6|09|14q11.2|DAD1|P|Defender against cell death 1||600243|A|||| | |14(Dad1)|
14.15|2|21|02|14q11-q12|IBD4|P|Inflammatory bowel disease 4||606675|Fd|||{Inflammatory bowel disease 4} (2)| | ||
14.16|10|7|13|14q11.2|MMP14, WNCHRS|P|Matrix metalloproteinase 14 (membrane-inserted)||600754|A|mutation identified in 1 family||?Winchester syndrome, 277950 (3)| | ||
14.17|9|2|09|14q11.2|TRNAL1, TRL1|C|tRNA leucine-1||189932|REa, A, Fd|||| | ||
14.18|9|2|09|14q11.2|TRNAP2, TRP2|C|tRNA proline-2||189931|REa, A, Fd|||| | ||
14.19|9|2|09|14q11.2|TRNAT2, TRT2|C|tRNA threonine-2||189933|REa, A, Fd|||| | ||
14.20|4|27|12|14q22.1|ATL1, SPG3A, HSN1D|C|Atlastin GTPase 1||606439|REc, Fd|||Spastic paraplegia 3A, autosomal dominant, 182600 (3);|Neuropathy, hereditary sensory, type ID, 613708 (3) | ||
14.21|1|21|07|14q12|GMPR2|C|Guanosine monophosphate reductase 2||610781|REc|||| | ||
14.22|9|29|10|14q11-q22|DEL14q11q22, C14DELq11q22|P|Chromosome 14q11-q22 deletion syndrome||613457|Ch|contiguous gene syndrome||Chromosome 14q11-q22 deletion syndrome (4)| | ||
14.23|7|11|95|14q24.1|PIGH|L|Phosphatidylinositol glycan, class H||600154|H|||| | |12(Pigh)|
14.24|1|27|04|14q11.2|C14orf18, HEI10|P|Human enhancer of invasion 10||608249|REc|||| | ||
14.25|12|17|08|14q11.2|METTL3, IME4|P|Methyltransferase-like 3||612472|R, REc|||| | ||
14.26|3|7|05|14q11.2|NRL, D14S46E, RP27|C|Neural retina leucine zipper||162080|REa, A, Fd|||Retinitis pigmentosa 27, 613750 (3); Retinal degeneration,|autosomal recessive, clumped pigment type (3) | |14(Nrl)|
14.27|1|14|03|14q11.2|RAB2B|P|Ras-associated protein RAB2B||607466|REc|||| | ||
14.28|5|28|98|14q11.2|SALL2, HSAL2|P|Sal-like 2||602219|A|||| | ||
14.29|4|30|12|14q11.2|ACIN1, KIAA0670|P|Acinus||604562|R, REc|||| | ||
14.30|5|16|95|14q12|ADCY4|C|Adenylate cyclase-4||600292|REa|||| | |14(Adcy4)|
14.31|12|18|08|14q11.2|ANG, RNASE5, ALS9|C|Angiogenin||105850|A, REa, Fd, REn|proximal to TCRA/TCRD||Amyotrophic lateral sclerosis 9, 611895 (3)| | |14(Ang)|
14.32|5|27|05|14q11.2|CEBPE, CRP1|P|CCAAT/enhancer-binding protein (C/EBP), epsilon||600749|H, A|||Specific granule deficiency, 245480 (3)| | |14(Cebpe)|
14.33|1|24|13|14q11.2|CHD8, DUPLIN, KIAA1564, AUTS18|P|Chromosomain helicase DNA-binding protein 8||610528|R, REc|||{Autism, susceptibility to, 18}, 615032 (3)| | ||
14.34|1|21|00|14q12|CMA1|P|Chymase-1, mast cell||118938|REa, REn|||| | ||
14.35|12|5|11|14q11.2|CMTM5, CKLFSF5|P|CKLF-like marvel transmembrane domain-containing 5||607888|REc|||| | |14(Cklfsf5)|
14.36|2|28|01|14q11.2|CPNE6|C|Copine VI||605688|R, REc|||| | ||
14.37|4|25|93|14q12|CTSG|C|Cathepsin G||116830|A, REn|||| | ||
14.38|3|29|10|14q11.2|DCAF11, WDR23|P|DDB1- and CUL4-associated factor 11||613317|REc|||| | ||
14.39|5|6|13|14q11.2|DHRS2, HEP27|P|Short-chain dehydrogenase/reductase family, member 2||615194|A, REc|||| | ||
14.40|2|23|08|14q11.2|DHRS4, NRDR|P|Short-chain dehydrogenase/reductase family, member 4||611596|REc|||| | ||
14.41|5|6|13|14q11.2|DHRS4L1|P|Short-chain dehydrogenase/reductase family, member 4-like 1||615195|REc|||| | ||
14.42|5|6|13|14q11.2|DHRS4L2|P|Short-chain dehydrogenase/reductase family, member 4-like 2||615196|REc|||| | ||
14.43|12|7|07|14q11.2|FAM12A, HE3A|P|Family with sequence similarity 12, member A||611580|R, REc|||| | ||
14.44|12|7|07|14q11.2|FAM12B, HE3B|P|Family with sequence similarity 12, member B||611582|REc|||| | ||
14.45|8|21|98|14q12|GZMB, CTLA1, CSPB|C|Granzyme B (cytotoxic T-lymphocyte-associated serine esterase-1;|cathepsin G-like 1)|123910|A, REa, RE|||| | |14(Ctla1)|
14.46|8|20|98|14q12|GZMH, CTSGL2|C|Granzyme H (cathepsin G-like 2)||116831|A, REn|||| | ||
14.47|9|7|10|14q11.2|HAUS4, C14orf94|P|HAUS augmin-like complex, subunit 4||613431|REc|||| | ||
14.48|6|1|12|14q11.2|HNRNPC, HNRPC|P|Heterogeneous nuclear ribonucleoprotein C||164020|R, REc|||| | ||
14.49|2|2|07|14q11.2|IL25, IL17E|P|Interleukin 25||605658|REc|||| | ||
14.50|6|22|99|14q12|ISGF3, ISGF3G|P|Interferon-stimulated gene transcription factor 3, gamma, 48kD||147574|RE|||| | ||
14.51|3|1|06|14q11.2|LRP10, LRP9|P|Low density lipoprotein receptor-related protein 10||609921|R, H|||| | |14(Lrp10)|
14.52|7|18|12|14q11.2|LRRC16B|P|Leucine-rich repeat-containing protein 16B||614716|REc|||| | ||
14.53|1|27|11|14q11.2|MIR208B, MIRN208B|P|Micro RNA 208B||613613|REc|||| | |14(Mir208b)|
14.54|3|5|08|14q11.2|MRPL52|P|Mitochondrial ribosomal protein L52||611856|R, REc|||| | ||
14.55|9|19|00|14q11.2|NDRG2|P|N-myc downstream-regulated gene 2||605272|R|||| | ||
14.56|2|20|07|14q11.2|NGDN, NGD|P|Neuroguidin||610777|R, REc|||| | ||
14.57|7|13|09|14q11.2|NRCLP5|P|Narcolepsy 5||612851|Fd|associated with rs1154155, rs12587781, rs1263646||{Narcolepsy 5} (2)| | ||
14.58|2|15|96|14q11.2|OXA1L|P|Oxidase (cytochrome c) assembly 1-like||601066|A|||| | ||
14.59|4|19|06|14q11.2|PARP2, ADPRTL2, ADPRT2|C|Poly(ADP-ribose) polymerase 2||607725|R, A|||| | |14(Adprtl2)|
14.60|6|19|98|14q11.2|PSMB5, LMPX|P|Proteasome subunit, beta type, 5||600306|REn|||| | ||
14.61|9|10|07|14q11.2|PSMB11|P|Proteasome subunit, beta-type, 11||611137|REc|||| | ||
14.62|6|19|98|14q12|PSME1, IFI5111|P|Proteasome activator subunit-1||600654|A|||| | ||
14.63|6|19|98|14q12|PSME2|P|Proteasome activator subunit-2||602161|A|||| | ||
14.64|3|2|98|14q12|RABGGTA|P|Rab geranylgeranyltransferase, alpha subunit||601905|REa, A|||| | ||
14.65|8|27|01|14q12|RIPK3, RIP3|P|Receptor-interacting serine/threonine kinase 3||605817|A|||| | ||
14.66|12|18|08|14q11.2|RNASE1, RNS1|P|Ribonuclease, RNase A family, 1 (pancreatic)||180440|H, REn|||| | |14(Rib1)|
14.67|12|18|08|14q11.2|RNASE2, RNS2, EDN|C|Ribonuclease, RNase A family, 2, liver (eosinophil-derived neurotoxin)||131410|REa, A, REn|||| | ||
14.68|12|18|08|14q11.2|RNASE3, RNS3, ECP|C|Ribonuclease, RNase A family, 3 (eosinophil cationic protein)||131398|REa, A, REn|||| | ||
14.69|12|18|08|14q11.2|RNASE4, RNS4|C|Ribonuclease, RNase A family, 4||601030|Psh, REn|||| | ||
14.70|12|18|08|14q11.2|RNASE6|C|Ribonuclease, RNase A family, k6||601981|Psh, REn|||| | ||
14.71|12|24|08|14q11.2|RNASE7|P|Ribonuclease A family 7||612484|REc|||| | ||
14.72|12|18|08|14q11.2|RNASE8|P|Ribonuclease A family, 8||612485|REn|||| | ||
14.73|9|8|11|14q11.2|RNAE9|P|Ribonuclease A family, 9||614014|REc|||| | ||
14.74|12|24|08|14q12|RNF31, ZIBRA|P|Ring finger protein 31||612487|REc|||| | ||
14.75|9|23|13|14q11.2|RPPH1, H1RNA|P|Ribonuclease P, RNA component H1||608513|REc|||| | ||
14.76|12|8|00|14q11.2|RSCIS|P|Radiation sensitivity/chromosome instability syndrome, autosomal|dominant|605463|Ch|||Radiation sensitivity/chromosome instability syndrome, autosomal|dominant (1) | ||
14.77|3|10|99|14q11.2|SLC7A7, LPI|C|Solute carrier family 7 (cationic amino acid transporter, y+ system),|member 7|603593|A, Fd, LD|||Lysinuric protein intolerance, 222700 (3)| | ||
14.78|10|22|99|14q11.2|SLC7A8, LAT2|P|Solute carrier family 7 (cationic amino acid transporter, y+ system),|member 8|604235|R|||| | ||
14.79|10|13|09|14q11.2|SLC22A17, NGALR, BOIT, BOCT, NGALR2, NGALR3|P|Solute carrier family 22, organic cation transporter, member 17||611461|R, REc|||| | ||
14.80|2|26|03|14q13.3|SLC25A21, ODC|C|Solute carrier family 25 (mitochondrial oxodicarboxylate carrier),|member 21|607571|A|||| | ||
14.81|7|31|08|14q11.2|SLC39A2, ZIP2|P|Solute carrier family 39 (zinc transporter), member 2||612166|R, REc|||| | ||
14.82|4|25|06|14q11.2|SOLO, FLJ10357|P|SOLO gene||610018|REc|||| | ||
14.83|10|15|13|14q11.2|TRAC, TRCA, TRA, IMD7|C|T-cell receptor alpha||186880|H, REa, A, REn|cen--V-C--ter||Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)| | |14(Tcra)|
14.84|10|15|13|14q11.2|TRDC|C|T-cell receptor delta chain constant region||186810|RE, Ch, REc|in midst of TCRA||| | |14(Tcrd)|
14.85|10|15|13|14q11.2|TRDD@|P|T-cell receptor delta chain diversity gene cluster||615460|REc|||| | ||
14.86|10|15|13|14q11.2|TRDV@|P|T-cell receptor delta chain variable gene cluster||615459|REc|||| | ||
14.87|10|15|13|14q11.2|TRDJ@|P|T-cell receptor delta chain joining gene cluster||615461|REc|||| | ||
14.88|5|28|98|14q11.2|TEP1, TP1|P|Telomerase-associated protein-1||601686|A, H|||| | |14(Tep1)|
14.89|1|18|13|14q12|TGM1, ICR2, ARCI1|C|Transglutaminase-1 (K polypeptide epidermal type I, protein-glutamine|gamma-glutamyltransferase)|190195|REa, A, Fd|||Ichthyosis, congenital, autosomal recessive 1, 242300 (3)| | ||
14.90|2|18|08|14q11.2|THTPA|P|Thiamine triphosphatase||611612|REc|||| | ||
14.91|6|8|11|14q11.2|TOX4, LCP1, KIAA0737|C|TOX high mobility group box family member 4||614032|R, REc|||| | ||
14.92|10|15|13|14q11.2|TRAJ@|C|T-cell receptor alpha chain joining gene cluster||615443|REc, Ch|||| | ||
14.93|10|15|13|14q11.2|TRAV@|C|T-cell recetpro alpha chain variable gene cluster||615442|REn, Ch|||| | ||
14.94|1|22|07|14q12|TSSK4, TSSK5|P|Testis-specific serine/threonine kinase 4||610711|REc|||| | ||
14.95|3|3|98|14q11.2|BCL2L2, BCLW|P|BCL2-like 2||601931|A|||| | ||
14.96|3|16|06|14q11.2-q12|DFNA53|P|Deafness, autosomal dominant 53||609965|Fd|max lod at D14S1280||Deafness, autosomal dominant 53 (2)| | ||
14.97|3|16|06|14q11.2|EFS|P|Embryonal FYN-associated substrate||609906|A|||| | ||
14.98|10|15|98|14q12|LTB4R, CMKRL1, P2RY7, BLTR,|P|Leukotriene b4 receptor (purinergic receptor P2Y, G protein-coupled,|7; chemokine receptor-like 1)|601531|A|||| | ||
14.99|8|27|01|14q12|LTB4R2, BLTR2, BLT2|P|Leukotriene B4 receptor 2||605773|REc|||| | ||
14.100|12|20|11|14q11.2-q12|MRT9, MRT26|P|Mental retardation, autosomal recessive, 9/26||611095|Fd|between rs1998463 and rs243286||Mental retardation, autosomal recessive, 9/26 (3)| | ||
14.101|5|24|13|14q11.2-q12|PAURT1|P|Preauricular tag, isolated, autosomal dominant, 1||610420|Fd|between D14S990 and D14S264||Preauricular tag, isolated, autosomal dominant, 1 (2)| | ||
14.102|7|11|11|14q11.2|PCK2, PEPCK2|P|Phosphoenolpyruvate carboxykinase 2, mitochondrial||614095|A|||PEPCK deficiency, mitochondrial, 261650 (1)| | ||
14.103|7|3|06|14q11.2|OSGEP, FLJ20411|P|O-sialoglycoprotein endopeptidase||610107|REc|||| | ||
14.104|10|29|03|14q12|REC8L1, REC8|P|Rec8, S. pombe, homolog of||608193|A|||| | ||
14.105|1|30|12|14q11.2-q13|HHPP|P|Hyperhidrosis palmaris et plantaris||144110|Fd|between D14S283 and D14S264||Hyperhidrosis palmaris et plantaris (2)| | ||
14.106|11|16|05|14q11.2|PABPN1, PABP2, PAB2|C|Poly(A)-binding protein, nuclear 1||602279|REc, Fd|||Oculopharyngeal muscular dystrophy, 164300 (3)| | ||
14.107|7|19|06|14q11.2-q12|SPD3|P|Synpolydactyly 3||610234|Fd|max lod at D14S264||Synpolydactyly 3 (2)| | ||
14.108|4|27|12|14q12|AP4S1, CPSQ6, SPG52|P|Adaptor-related protein complex 4, sigma-1 subunit||607243|R, REc|||Spastic paraplegia 52, autosomal recessive, 614067 (3)| | ||
14.109|6|24|94|14q11.2|APEX, APE|C|APEX nuclease (multifunctional DNA repair enzyme)||107748|Psh, A|||| | |14(Apex)|
14.110|3|14|07|14q12|ARHGAP5, RHOGAP5|P|RHO GTPase-activating protein 5||602680|R, REc|||| | ||
14.111|9|9|09|14q12|CBLN3|P|Precerebellin 3||612978|REc|||| | |14(Cbln3)|
14.112|8|2|13|14q13.1|CFL2, NEM7|C|Cofilin 2, muscle||601443|Psh, REc|||Nemaline myopathy 7, autosomal recessive, 610687 (3)| | ||
14.113|3|29|07|14q12|CHMP4A, SNF7|P|CHMP family, member 4A||610051|R, REc|||| | ||
14.114|12|3|96|14q12|DFNB5|P|Deafness, autosomal recessive 5||600792|Fd|||Deafness, autosomal recessive 5 (2)| | ||
14.115|6|9|08|14q12|FIT1|P|Fat-inducing transcript 1||612028|R, REc|||| | ||
14.116|5|24|13|14q12|G2E3, KIAA1333|P|G2/M phase-specific E3 ubiguitin ligase||611299|REc|||| | ||
14.117|1|27|11|14q11.2|MIR208A, MIRN208A, MIR208, MIRN208|P|Micro RNA 208A||611116|REc|||| | ||
14.118|7|22|11|14q11.2|MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3|C|Myosin, heavy polypeptide-6, cardiac muscle, alpha||160710|REa, RE, D, A, Fd|||Cardiomyopathy, familial hypertrophic, 14, 613251 (3); Atrial septal|defect 3, 614089 (3); Cardiomyopathy, dilated, 1EE, 613252 (3); {Sick sinus syndrome 3}, 614090 (3)| |14(Myhca)|
14.119|6|16|10|14q11.2|MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD|C|Myosin, heavy polypeptide-7, cardiac muscle, beta||160760|REa, RE, D, A|5'-B-4.5kb-A-3'||Cardiomyopathy, familial hypertrophic, 1, 192600 (3); Cardiomyopathy,|dilated, 1S, 613426 (3); Myopathy, myosin storage, 608358 (3); Laing distal myopathy, 160500 (3); Scapuloperoneal syndrome, myopathic type, 181430 (3);|Left ventricular noncompaction 5, 613426 (3) ||
14.120|6|13|12|14q12|NEDD8|P|Neural precursor cel expressed, developmentally downregulated 8||603171|REc|||| | ||
14.121|1|27|11|14q12|NUBPL, IND1|P|Nucleotide-binding protein-like protein||613621|REc|||Mitochondrial complex I deficiency, 252010 (3)| | ||
14.122|8|17|10|14q12|PRKD1, PRKCM, PKD|C|Protein kinase D1||605435|REa, R, REc|also assigned to chr.21||| | ||
14.123|8|21|12|14q12|STRN3, SG2NA|P|Striatin, calmodulin-binding protein 3||614766|REc, A|||| | ||
14.124|11|18|11|14q12|STXBP6, AMISYN, HSPC156|P|Syntaxin-binding protein 6||607958|R, REc|||| | ||
14.125|12|24|11|14q12|TINF2, TIN2, DKCA3|P|TRF1-interacting nuclear factor 2||604319|REc|||Dyskeratosis congenita, autosomal dominant 3, 613990 (3); Revesz|syndrome, 268130 (3) | ||
14.126|5|29|13|1p34.3|ZMYM6, ZNF258|P|Zinc finger, MYM-type 6||613567|A|||| | ||
14.127|2|28|01|14q13.1-q13.2|BAZ1A|P|Bromodomain adjacent to zinc finger domain, 1A||605680|REa, R|||| | ||
14.128|2|5|09|14q12|COCH, DFNA9|C|Cochlin||603196|Fd, A|||Deafness, autosomal dominant 9, 601369 (3)| | |12(Coch5B2)|
14.129|2|11|08|14q13.3|NKX2-8, NKX2H, NKX2.8|P|NK2 homeobox 8||603245|REn, H|||| | |12(Nkx2-9)|
14.130|4|24|09|14q13.3|PAX9, STHAG3|P|Paired box homeotic gene-9||167416|REa, A|||Tooth agenesis, selective, 3, 604625 (3)| | ||
14.131|4|27|12|14q12-q21|SPG32|P|Spastic paraplegia-32||611252|Fd|between D14S264 and D14S978||Spastic paraplegia 32, autosomal recessive (2)| | ||
14.132|10|27|97|14q12-q22|ARVD3|P|Arrhythmogenic right ventricular dysplasia 3||602086|Fd|?distinct from ARVD1||Arrhythmogenic right ventricular dysplasia 3 (2)| | ||
14.133|1|2|03|14q21.1|FOXA1, HNF3A|C|Forkhead box A1|(hepatocyte nuclear factor-3, alpha)|602294|A, D|||| | |12(Hnf3a)|
14.134|7|22|11|14q12|FOXG1, FOXG1B, FKHL1, FKH2, QIN, BF1|C|Forkhead box G1B||164874|REa, A|||Rett syndrome, congenital variant, 613454 (3)| | ||
14.135|3|1|07|14q13|HPE8|P|Holoprosencephaly 8||609408|Fd|between D14S49 and D14S1014||Holoprosencephaly-8 (2)| | ||
14.136|3|14|06|14q13.2|KIAA0391|P|KIAA0391 gene||609947|R, REc|||| | ||
14.137|4|16|02|14q13.3-q21.1|MIPOL1|P|Mirror-image polydactyly gene 1||606850|Ch|||Mirror-image polydactyly, 135750 (1)| | ||
14.138|7|10|08|14q13.2|NFKBIA, IKBA|C|Nuclear factor of kappa light chain gene enhancer in B-cells|inhibitor, alpha|164008|A|||Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency,|612132 (3) | |12(ikba)|
14.139|2|1|08|14q13.3|NKX2-1, TITF1, NKX2A, TTF1|P|NK2 homeobox 1||600635|A|||Goiter, familial, due to TTF-1 defect (1); Chorea, hereditary|benign, 118700 (3); Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3)| ||
14.140|3|24|06|14q13.1|NPAS3, MOP6|P|Neuronal PAS domain protein 3||609430|REc, H|||| | |12(Npas3)|
14.141|11|2|11|14q13.2|PSMA6, PROS27, P27K|P|Proteasome subunit, alpha-type, 6||602855|A|||{Myocardial infarcation, susceptibility to}, 608446 (3)| | ||
14.142|4|25|93|14q21.1|SSTR1|C|Somatostatin receptor-1||182451|REa|||| | |12(Sstr1)|
14.143|5|29|97|14q13|TMIP|L|Tetramelic mirror-image polydactyly||135750|Ch|t(2;14)||?Tetramelic mirror-image polydactyly (2)| | ||
14.144|5|23|00|14q21.3|POLE2, DPE2|P|Polymerase, DNA, epsilon-2||602670|REa, A|||| | ||
14.145|8|25|04|14q13-q21|RLS2|C|Restless legs syndrome, susceptibility to, 2||608831|Fd|max lod at D14S288||{Restless legs syndrome 2} (2)| | ||
14.146|4|1|01|14q21.1|SIP1|P|SMN-interacting protein 1||602595|A|||| | ||
14.147|9|11|02|14q22.1|WW45, SAV|P|WW domain-containing protein, 45kD||607203|R|||| | ||
14.148|4|27|12|14q13.1|EGLN3, PHD3, HIFP4H3|P|Egl9, C. elegans, homolog of, 3||606426|REc|||| | ||
14.149|12|17|09|14q11.2|PNP, NP|C|Purine nucleoside phosphorylase||164050|S, D|centromeric to TCRA||Immunodeficiency due to purine nucleoside phosphorylase deficiency,|613179 (3) | |14(Np1,2)|
14.150|12|10|12|14q13.1|SNX6|C|Sorting nexin 6||606098|R, REc|||| | ||
14.151|9|8|11|14q13.2|INSM2, IA6|P|Insulinoma-associated 2||614027|REc|||| | ||
14.152|9|10|12|14q13.1|SPTSSA, C14orf147, SSSPTA|P|Serine palmitoyltransferase, small subunit, A||613540|REc|||| | ||
14.153|7|9|06|14q13.2|SRP54|P|Signal recognition particle, 54kD||604857|R|||| | ||
14.154|6|22|10|14q13.2|RALGAPA1, GARNL1, TULIP1, GRIPE, KIAA0884|C|Ral GTPase activating protein, alpha subunit 1 (catalytic)||608884|Psh, A|pseudogene on 9q31.1||| | |12(Garnl1)|
14.155|2|4|09|14q21.1|FBXO33, FBX33, BMND12|C|F-box only protein 33||609103|REc|||| | |12(Fbxo33)|
14.156|6|30|05|14q13.3|MBIP|P|MAP3K12-binding inhibitory protein||609431|R, REc|||| | ||
14.157|9|14|12|14q13.3|PTCSC3|P|PTCSC3 gene||614821|REc|||| | ||
14.158|2|1|11|14q13.3-q21.1|HPV6AI1|P|Human papillomavirus type 6A integration site 1||604461|REc|previously assigned to 10q24||| | ||
14.159|5|28|02|14q22.1|GNG2|P|Guanine nucleotide-binding protein, gamma-2||606981|Psh, A|||| | |14(Gng2)|
14.160|9|10|07|14q21.3|MDGA2|P|MAM domain-containing glycosylphosphatidylinositol anchor 2||611128|REc, H|||| | |12(Mdga2)|
14.161|4|16|10|14q21.3|MGAT2, CDGS2, CDG2A|P|Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyl-|transferase|602616|A|||Congenital disorder of glycosylation, type IIa, 212066 (3)| | ||
14.162|9|2|12|14q22.3|PELI2|P|Pellino, Drosophila, homolog of, 2||614798|REc|||| | ||
14.163|1|27|97|14q21.3|SOS2|P|Son of sevenless, Drosophila, homolog of, 2||601247|A|||| | |12(Sos2)|
14.164|12|4|02|14q23.1|TIMM9, TIM9|C|Translocase of inner mitochondrial membrane 9, yeast, homolog of||607384|REc, A, R|||| | ||
14.165|10|15|97|14q22.3|LGALS3, MAC2, GALBP|P|Lectin, galactose-binding, soluble, 3||153619|A|assigned earlier to 1p13||| | ||
14.166|6|26|11|14q22.3|OTX2, MCOPS5, CPHD6|C|Orthodenticle, Drosophila, homolog of, 2||600037|A, REa|||Microphthalmia, syndromic 5, 610125 (3); Pituitary hormone|deficiency, combined, 6, 613986 (3); Retinal dystrophy, early-onset, and pituitary dysfunction, 610125 (3)| ||
14.167|9|4|98|14q23.1|RTN1, NSP|P|Reticulon 1 (neuroendocrine-specific protein)||600865|A|||| | ||
14.168|6|7|04|14q21-q22|SCKL3|P|Seckel syndrome 3||608664|Fd|max lod with D14S592||Seckel syndrome 3 (2)| | ||
14.169|6|15|99|14q23.2|HIF1A, MOP1|P|Hypoxia-inductible factor 1, alpha subunit||603348|A,|||| | |12(Hif1a)|
14.170|12|27|01|14q22.1|TRIM9, SPRING, KIAA0282|P|Tripartite motif-containing protein 9||606555|R|||| | ||
14.171|11|1|06|14q21.1|SEC23A, CLSD|C|Sec23, S. cerevisiae, homolog of, A||610511|R, Fd|||Craniolenticulosutural dysplasia, 607812 (3)| | ||
14.172|3|10|11|14q21.2|FKBP3, FKBP25|P|FK506-binding protein 3||186947|REc|||| | ||
14.173|7|15|09|14q21.1|LRFN5, SALM5|P|Leucine-rich repeat and fibronectin type III domain-containing protein|5|612811|REc, H|||| | |12(Lrfn5)|
14.174|12|10|12|14q21.2|PRPF39|P|Precursor mRNA-processing factor 39, S. cerevisiae, homolog of||614907|REc|||| | ||
14.175|3|3|03|14q21.2-q22.3|MGR4, MGOA|P|Migraine without aura, susceptibility to, 4||607501|Fd|between D14S976 and D14S978||{Migraine without aura, susceptibility to, 4} (2)| | ||
14.176|9|16|12|14q21.3|ARF6|P|ADP-ribosylation factor 6||600464|REc|||| | ||
14.177|5|25|13|14q21.3|CDKL1, KKIALRE, p42|P|Cyclin-dependent kinase-like 1||603441|REc|||| | ||
14.178|9|7|12|14q12|DHRS1|P|Short-chain dehydrogenase/reductase family, member 1||610410|REc|||| | ||
14.179|10|11|05|14q21.2|FANCM, KIAA1596|P|FANCM gene||609644|REc|between D14S259 and D14S1027||Fanconi anemia, complementation group M, 614087 (3)| | ||
14.180|2|11|08|14q21.2|FSCB, C14orf155|P|Fibrous sheath cabyr-binding protein||611779|REc|||| | |12(Fscb)|
14.181|5|26|13|14q21.3|KLHDC1|P|KELCH domain-containing protein 1||611281|REc|||| | ||
14.182|5|26|13|14q21.3|KLHDC2, HCLP1|P|KELCH domain-containing protein 2||611280|REc|||| | ||
14.183|1|7|09|14q21.3|KTU, C14orf104, CILD10|P|Kintoun, Medaka, homolog of||612517|REc|||Ciliary dyskinesia, primary, 10, 612518 (3)| | ||
14.184|6|4|13|14q21.3|METTL21D, C14orf138|P|Methyltransferase-like 21D||615260|REc|||| | ||
14.185|9|14|95|14q22.2|CDKN3|P|Cyclin-dependent kinase inhibitor 3 (CDK2-associated dual|specificity phosphatase)|123832|A|||| | ||
14.186|4|1|96|14q22.3|KTN1, CG1|C|Kinectin||600381|REa, A|||| | ||
14.187|8|21|07|14q22.1|PTGER2|C|Prostaglandin E receptor 2, EP2 subtype, 53kD||176804|A|||{Asthma, aspirin-induced, susceptibility to}, 208550 (3)| | |15(Ptgerep2)|
14.188|1|27|04|14q21.3|SDCCAG1|P|Serologically defined colon cancer antigen 1||608378|A|||| | ||
14.189|5|4|09|14q22.2|BMP4, BMP2B1, BMP2B, MCOPS6, OFC11|C|Bone morphogenetic protein-4||112262|H, REa, A, Ch|||Microphthalmia, syndromic 6, 607932 (3); Orofacial cleft 11, 600625|(3) | |14(Bmp2b1)|
14.190|7|22|13|14q22-q23|CTRCT32, CTAA1, CAP, CTPP5|P|Cataract 32, multiple types||115650|Ch, Fd|between D14S980 and D14S1069||Cataract 32, multiple types (3)| | ||Moross (1984); Das (1992)
14.191|3|8|07|14q23.1|PRKCH, PKCL, PRKCL|C|Protein kinase C, eta||605437|A, REc|||{Cerebral infarction, susceptibility to}, 601367 (3)| | ||
14.192|3|11|09|14q23.3|SPTB, SPH2, EL3, HS2|C|Spectrin, beta, erythrocytic||182870|REb, F, H, REa, A, RE|?14q23-q24.2||Elliptocytosis-3 (3); Spherocytosis, type 2 (3); Anemia, neonatal|hemolytic, fatal and near-fatal (3) | |12(Sptb1)|
14.193|1|29|01|14q24.2|ZNFN2A1, DFCP1|P|Zinc finger protein, subfamily 2A, 1||605471|REc|||| | ||
14.194|12|19|01|14q24.1|ZFP36L1, BRF1, ERF1|P|Zinc finger protein 36, C3H type-like 1|(butyrate response factor 1; EGF-response factor 1)|601064|A|||| | ||
14.195|3|20|07|14q22.1|C14orf166, CGI99|P|Chromosome 14 open reading frame 166||610858|R, REc|||| | ||
14.196|1|29|13|14q22.1|DDHD1, PAPLA1, KIAA1705, SPG28|C|DDHD domain-containing protein 1||614603|REc, Fd|||Spastic paraplegia 28, autosomal recessive, 609340 (3)| | ||
14.197|10|7|13|14q22.1|ERO1L, ERO1LA|P|Endoplasmic reticulum oxidoreduction 1-like||615435|A, H, REc|||| | |14(Ero1l)|
14.198|4|30|09|14q22.2|GCRRF1, CGR19|P|Cell growth regulator with ring finger domain 1||606138|R, REc|||| | ||
14.199|3|31|08|14q22.1|FERMT2, PLEKHC1, MIG2, UNC112, KIND2|C|Fermitin family, Drosophila, homolog of, 2||607746|R, REc|||| | ||
14.200|4|2|12|14q22.1|FRMD6, WILLIN, C14orf31|P|FERM domain-containing protein 6||614555|REc|||| | ||
14.201|10|7|05|14q21.3|L2HGDH, C14orf160|C|L-2-hydroxyglutarate dehydrogenase||609584|REc|||L-2-hydroxyglutaric aciduria, 236792 (3)| | ||
14.202|10|11|12|14q22.1|NIN, KIAA1565, SCKL7|P|Ninein||608684|REc|||Seckel syndrome 7, 614851 (3)| | ||
14.203|8|27|08|14q21.3|RN7SL1, 7SL, 7L1A|P|RNA, 7SL, cytoplasmic 1||612177|REc|||| | ||
14.204|8|27|08|14q21.3|RN7SL2, 7L1C|P|RNA, 7SL, cytoplasmic 2||612179|REc|||| | ||
14.205|8|27|08|14q21.3|RN7SL3|P|RNA, 7SL, cytoplasmic 3||612180|REc|||| | ||
14.206|2|1|11|14q22.1|PSMC6|P|Proteasome 26S subunit, ATPase, 6||602708|REc|previously assigned to 12q15 by FISH||| | ||
14.207|12|9|04|14q22.1|PTGDR, AS1, ASRT1|C|Prostaglandin D2 receptor||604687|Fd, REc|||{Asthma, susceptibility to, 1}, 607277 (3)| | ||
14.208|6|23|98|14q22.1|PYGL|C|Phosphorylase, glycogen, liver||613741|REb, Fd, REc|||Glycogen storage disease VI, 232700 (3)| | |12(Pygl)|
14.209|7|16|09|14q23.2|SGPP1, SPPASE1|P|Sphingosine-1-phosphate phosphatase 1||612826|REc|||| | ||
14.210|10|27|06|14q22.1|TXNDC1, TMX|P|Thioredoxin domain-containing 1||610527|REc|||| | ||
14.211|5|4|09|14q22.2|GCH1, DYT5, HPABH4B|P|GTP cyclohydrolase 1||600225|Psh, A|||Dystonia, DOPA-responsive, with or without hyperphenylalaninemia,|128230 (3); Hyperphenylalaninemia, BH4-deficient, B, 233910 (3) | ||
14.212|3|7|11|14q22.1-q24.2|MYP18|P|Myopia 18||255500|Fd|between D14S984 and D14S999||Myopia 18 (2)| | ||
14.213|5|25|13|14q22.2|CNIH, TGAM77|P|Cornichon, Drosophila, homolog of||611287|REc|||| | ||
14.214|2|23|09|14q22.2|CRCS8|P|Colorectal cancer, susceptibility to, 8||612589|Fd|associated with rs4444235||{Colorectal cancer, susceptibility to, 8} (2)| | ||
14.215|9|9|08|14q22.3|FBXO34, FBX34|P|F-box only protein 34||609104|REc|||| | |14(Fbxo34)|
14.216|2|7|07|14q22.2|SAMD4A, SMAUG1, KIAA1053|P|Sterile alpha motif domain-containing 4A||610747|REc|||| | |14(Samd4a)|
14.217|9|18|12|14q22.3|AP5M1, MUDENG, MUD, C14orf108|P|Adaptor-related protein complex 5, mu-1 subunit||614368|REc|||| | ||
14.218|9|10|09|14q23.1|DACT1, DPR1, DAPPER1, FRODO|P|Dapper, antagonisty of beta-catenin, 1||607861|REc|||| | ||
14.219|9|8|11|14q22.3|EXOC5, SEC10L1|P|Exocyst complex component 5||604469|REc|||| | ||
14.220|7|10|08|14q23|ANIB8|P|Aneurysm, intracranial berry, 8||612162|Fd|associated with rs767603||Aneurysm, intracranial berry, 8 (2)| | ||
14.221|10|6|09|14q23|EIG2|P|Epilepsy, idiopathic generalized, susceptibility to, 2||606972|Fd|||{Epilepsy, idiopathic generalized, susceptibility to, 2} (2)| | ||
14.222|3|30|99|14q23.3|FUT8|C|Fucosyltransferase 8||602589|REc, A|||| | ||
14.223|8|14|11|14q23.3|MAX|P|MAX protein||154950|A|interacts with MYC||{Pheochromocytoma, susceptibility to}, 171300 (3)| | |12 (Myn)|
14.224|6|15|99|14q23.1|MNAT1, MAT1|P|Menage a trois 1||602659|A,|||| | ||
14.225|12|9|97|14q23.1|PSMA3|P|Proteasome (prosome, macropain) subunit, alpha type, 3||176843|Fd|||| | ||
14.226|8|1|06|14q23.1|SIX1, BOS3, DFNA23|C|Sine oculis homeo box, Drosophila, homolog of, 1||601205|REa, A|||Brachiootic syndrome 3, 608389 (3); Deafness, autosomal dominant 23,|605192 (3) | ||
14.227|10|4|01|14q23.1|SIX4|P|Sine oculis homeo box, Drosophila, homolog of, 4||606342|A|||| | ||
14.228|7|26|06|14q23.1|SIX6, MCOPCT2|C|Sine oculis homeo box, Drosophila, homolog of, 6||606326|A, R, D|||Microphthalmia with cataract 2, 212550 (3)| | ||
14.229|11|20|13|14q23.2|SYNE2, NUANCE, KIAA1011, EDMD5|P|Spectrin repeat-containing nuclear envelope protein 2|(nesprin 2)|608442|A|||Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)| | ||
14.230|11|4|93|14q23.3|FNTB|P|Farnesyltransferase, CAAX box, beta||134636|REa, Psh, A|related FNTBL1 on 9||| | ||
14.231|1|4|12|14q23.3|ZBTB25, ZNF46, KUP|P|Zinc finger and BTB domain containing 25||194541|A|||| | ||
14.232|12|28|08|14q23.1|ARID4A, RBP1, RBBP1|P|AT-rich interactive domain-containing protein 4A||180201|R, REc|||| | ||
14.233|4|30|12|14q23.1|DAAM1, KIAA0666|P|Dishevelled-associated activator of morphogenesis 1||606626|R, REc|||| | ||
14.234|7|16|09|14q23.1|DHRS7, RETSDR4|P|Short-chain dehydrogenase/reductase family, member 7||612833|REc|||| | ||
14.235|5|23|13|14q23.1|JKAMP, C24orf100, JAMP|P|JNK1/MAPK8-associated membrane protein||611176|REc|||| | ||
14.236|9|10|12|14q23.1|L3HYPDH, C14orf149|P|L-3-hydroxyproline dehydratase, trans||614811|REc|||| | ||
14.237|10|7|05|14q23.2|PPP2R5E|P|Protein phosphatase-2, regulatory subunit B (B56), epsilon isoform||601647|REc|incorrectly assigned to 7p12-p11.2 by FISH||| | ||
14.238|5|2|07|14q23.2|SYT16, STREP14|P|Synaptotagmin 16||610950|REc|||| | ||
14.239|8|20|07|14q23.1|TMEM30B, CDC50B|P|Transmembrane protein 30B||611029|REc|||| | ||
14.240|8|20|07|14q23.1|TRMT5, TRM5, KIAA1393|C|tRNA methyltransferase 5, S. cerevisiae, homolog of||611023|R, REc|||| | ||
14.241|3|30|12|14q23.2|HIF1AAS1|P|HIF1A antisense RNA 1||614528|REc|||| | ||
14.242|3|30|12|14q23.2|HIF1AAS2|P|HIF1A antisense RNA 2||614529|REc|||| | ||
14.243|4|30|12|14q23.2|KCNH5|P|Potassium voltage-gated channel, subfamily H, member 5||605716|REc|||| | ||
14.244|4|30|12|14q23.2|RHOJ, ARHJ, TCL|P|Ras homolog gene family, member J||607653|REc|||| | ||
14.245|10|2|12|14q23.2|SNAPC1, SNAP43|P|Small nuclear RNA-activating protein compelx, polypeptide 1||600591|REc|||| | ||
14.246|2|28|06|14q23.2|TELM|P|Telomere length, mean leukocyte||609113|Fd|suggestive QTL on 12, 10q, 3p||[Telomere length, mean leukocyte] (2)| | ||
14.247|7|22|13|14q23.3|MPP5, PALS1|P|Membrane protein, palmitoylated 5||606958|R, REc|||| | |12(Pals1)|
14.248|9|23|04|14q24.1|RDH11, PSDR1, RALR1|C|Retinol dehydrogenase 11||607849|R, REn|near RDH12||| | |12(Rdh11)|
14.249|9|23|04|14q24.1|RDH12, LCA13|C|Retinol dehydrogenase 12||608830|Fd, REn|near RDH11||Leber congenital amaurosis 13, 612712 (3)| | ||
14.250|8|25|11|14q24.1|RAD51L1|P|RAD51. S. cerevisiae, homolog of, like 1||602948|REc, A, R|fused with HMGA2 in uterine leiomyoma||| | ||
14.251|11|30|06|14q24.3|ALKBH1, ALKB|P|AlkB, E. coli, homolog of, 1||605345|A|||| | ||
14.252|12|17|08|14q24.3|BATF, BATF1, SFA2|P|Basic leucine zipper transcription factor, ATF-like||612476|A|||| | ||
14.253|3|9|00|14q24.3|C14orf1|P|Chromosome 14 open reading frame 1||604576|R|||| | ||
14.254|10|29|03|14q24.3|EIF2B2|P|Eukaryotic translation initiation factor 2B, subunit 2||606454|R, Fd|||Leukoencephalopathy with vanishing white matter, 603896 (3);|Ovarioleukodystrophy, 603896 (3) | ||
14.255|9|28|00|14q24.3|ENTPD5, CD39L4|P|Ectonucleoside triphosphate diphosphohydrolase 5||603162|R,|||| | |12(Cd39l4)|
14.256|11|4|13|14q23.3|GPHN, GPH, KIAA1385, GEPH, MOCODC|C|Gephyrin||603930|REc, Ch|||Molybdenum cofactor deficiency C, 615501 (3)| | ||
14.257|9|14|12|14q24.3|LTBP2, LTBP3, GLC3D, MSPKA, WMS3|P|Latent transforming growth factor beta binding protein-2||602091|RE, A|||Glaucoma 3, primary congenital, D, 613086 (3); Microspherophakia|and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3); Weill-Marchesani syndrome 3, recessive, 614819 (3)| ||
14.258|8|25|06|14q23.3|MTHFD, MTHFC|C|5,10-methylenetetrahydrofolate dehydrogenase,|5,10-methylenetetrahydrofolate cyclohydrolase|172460|S, REa, A|trifunctional protein||{Spina bifida, folate-sensitive, susceptibility to}, 601634 (3);|{Abruptio placentae, susceptibility to} (3) | ||
14.259|9|28|00|14q24.3|NGB|P|Neuroglobin||605304|R|||| | ||
14.260|12|24|13|14q24.3|TGFB3, ARVD1, RNHF|C|Transforming growth factor, beta-3||190230|REa, A|mutation identified in 1 RNHF family||Arrhythmogenic right ventricular dysplasia 1, 107970 (3);|?Rienhoff syndrome, 615582 (3) | |12(Tgfb3)|
14.261|5|10|04|14q24.3|ZADH1|P|Zinc-binding alcohol dehydrogenase domain-containing protein 1||608642|REc|||| | ||
14.262|11|13|12|14q32.11|CALM1, PHKD, CPVT4|C|Calmodulin-1 (phosphorylase kinase, delta)||114180|REa, Psh, A|||Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916|(3) | ||
14.263|3|14|96|14q24.3|PGF, PLGF|P|Placental growth factor, vascular endothelial growth factor-related|protein|601121|A|||| | |12(Plgf)|
14.264|1|29|01|14q31.3|FLRT2|C|Fibronectin-like domain-containing leucine-rich transmembrane|protein-2|604807|R, REc|||| | ||
14.265|5|3|13|14q24.1|ACTN1, BDPLT15|P|Actinin, alpha-1||102575|REa, A, REc|||Bleeding disorder, platelet-type, 15, 615193 (3)| | |12(Actn1)|
14.266|6|6|00|14q24.2|ADAM20|P|A disintegrin and metalloproteinase domain 20||603712|R|||| | ||
14.267|6|6|00|14q24.2|ADAM21|P|A disintegrin and metalloproteinase domain 21||603713|R|||| | ||
14.268|6|29|07|14q24.1|ERH|P|Enhancer of rudimentary, Drosophila, homolog of||601191|REc|possible pseudogene on 7q34||| | ||
14.269|4|6|13|14q24.1|GALNT16, GALNACT16, GALNTL1, KIAA1130|C|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 16|615132|R, REc|||| | ||
14.270|4|9|96|14q23.3|GPX2|C|Glutathione peroxidase-2, gastrointestinal||138319|REa, A|||| | ||
14.271|10|15|94|14q23.3|HSPA2|C|Heat-shock 70kD protein-2||140560|REa, A|||| | |12(Hspa2)|
14.272|10|4|02|14q24.2|SLC10A1, NTCP1|C|Solute carrier family 10 (sodium/bile acid cotransporter family),|member 1|182396|REa, REc|||| | |12(Slc10a1)|
14.273|9|23|13|14q24.1|VTI1B, VTI1, VTI1L|P|Vti1, S. cerevisiae, homolog of, B||603207|REc|||| | ||
14.274|4|27|12|14q24.1|ZFYVE26, KIAA0321, SPG15|C|Zinc finger FYVE domain-containing protein 26||612012|R, REc, Fd|||Spastic paraplegia 15, autosomal recessive, 270700 (3)| | ||
14.275|9|9|10|14q24.1|DCAF5, WDR22, BCRP2, D14S1461E|P|DDB1- and CUL4-associated factor 5||603812|REc|||| | ||
14.276|6|15|99|14q24.1|ARG2|P|Arginase II||107830|A, R, Psh|||| | ||
14.277|11|21|02|14q32.11|KCNK13, THIK1|P|Potassium channel, subfamily K, member 13||607367|REc|||| | ||
14.278|12|22|08|14q24.2|RBM25, RED120|P|RNA-binding motif protein 25||612427|REc|||| | ||
14.279|12|19|11|14q24.2|SRSF5, SFRS5, SRp40|P|Splicing factor, serine/arginine-rich, 5||600914|R, REc|||| | ||
14.280|6|30|05|14q24.2|SYNJ2BP, OMP25, ARIP2|P|Synaptojanin 2-binding protein||609411|R, REc|||| | ||
14.281|10|17|12|14q24.3|ABCD4, PXMP1L, P79R, PMP69, MAHCJ|C|ATP-binding cassette, subfamily D, member 4|(peroxisomal membrane protein 1-like)|603214|Psh, A|||Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)| | ||
14.282|10|25|11|14q24.3|ACOT1|P|Acyl-CoA thioesterase 1||614313|REc|||| | |12(Acot1)|
14.283|3|17|06|14q24.3|ACOT2, PTE2, MTE1|P|Acyl-CoA thioesterase 2||609972|REc, R|||| | |12(Acot2)|
14.284|10|28|11|14q24.3|ACOT4|P|Acyl-CoA thioesterase 4||614314|REc|?pseudogene on 19q13.12||| | |12(Acot4)|
14.285|10|5|11|14q24.3|ACOT6|P|Acyl-CoA thioesterase 6||614267|REc, H|||| | |12(Acot6)|
14.286|5|25|00|14q24.3|ACYP1, ACYPE|P|Acylphosphatase, erythrocyte||600875|A, REa|||| | ||
14.287|8|8|13|14q24.3|AHSA1, AHA1|P|Activator of heat-shock 90kD protein ATPase 1||608466|REc, R|||| | ||
14.288|8|3|11|14q24.3|ALDH6A1, MMSDH|P|Aldehyde dehydrogenase 6 family, member A1|(methylmalonate semialdehyde dehydrogenase)|603178|REc|||Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3)| | ||
14.289|9|9|13|14q24.3|AREL1, KIAA0317|P|Apoptosis-resistant E3 ubiquitin protein ligase 1||615380|REc|||| | ||
14.290|1|9|08|14q24.3|C14orf4, EAP1|P|Enhanced at puberty 1||611720|R, REc|||| | ||
14.291|3|31|08|14q24.3|C14orf169, NO66, MAPJD|P|Myc-associated protein with JMJC domain||611919|R, REc|||| | ||
14.292|7|17|06|14q24.3|CHX10, HOX10, MCOP2, MCOPCB3|C|C. elegans ceh-10 homeo domain-containing homolog||142993|REa, A|||Microphthalmia with coloboma 3, 610092 (3);|Microphthalmia, isolated 2, 610093 (3) | |12(Hox10)|
14.293|5|24|12|14q24.3|COQ6, CGI10, COQ10D6|P|Coq6, S. cerevisiae, homolog of||614647|REc|||Coenzyme Q10 deficiency, primary, 6, 614650 (3)| | ||
14.294|11|9|05|14q31.1|DIO2, TXDI2, D2|P|Deiodinase, iodothyronine, type II||601413|R, A|||| | ||
14.295|10|15|94|14q24.3|DLST|C|Dihydrolipoamide S-succinyltransferase (E2 component of|2-oxo-glutarate complex)|126063|A|||| | ||
14.296|6|8|11|14q24.3|DNAL1, C14orf168, CILD16|P|Dynein, axonemal, light chain 1||610062|REc|||Ciliary dyskinesia, primary, 16, 614017 (3)| | |12(Dnal1)|
14.297|2|7|08|14q24.3|ESRRB, ESRL2, DFNB35|C|Estrogen-related receptor beta||602167|A, Fd|||Deafness, autosomal recessive 35, 608565 (3)| | |12(Estrrb)|
14.298|4|20|10|14q24.3|FLVCR2, C14orf58, CCT, PVHH, EPV|P|Feline leukemia virus subgroup C receptor 2||610865|REc|||Proliferative vasculopathy and hydraencephaly-hydrocephaly|syndrome, 225790 (3) | |12(Flvcr2)|
14.299|6|5|92|14q24.3|FOS|C|FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS)||164810|REa, A|||| | |12(Fos)|
14.300|10|14|09|14q24.3|GLC3C|P|Glaucoma 3, primary congenital, C||613085|Fd|between D14S61 and D14S1000||Glaucoma 3, primary congenital, C (2)| | ||
14.301|6|15|99|14q24.3|GSTZ1, MAAI|P|Glutathione S-transferase, zeta-1 (maleylacetoacetate isomerase)||603758|A, R|||Tyrosinemia, type Ib (1)| | ||
14.302|8|3|11|14q24.3|IFT43, C14orf179, CED3|P|Intraflagellar transport 43, Chlamydomonas, homolog of||614068|REc|||Cranioectodermal dysplasia 3, 614099 (3)| | ||
14.303|7|22|13|14q24.3|ISCA2|P|Iron-sulfur cluster assembly 2, S. cerevisiae, homolog of||615317|REc|||| | ||
14.304|3|31|09|14q24.3|ISM2, THSD3, TAIL1|P|Isthmin 2, zebrafish, homolog of||612684|REc|||| | ||
14.305|7|24|13|14q24.3|JDP2|P|JUN dimerization protein 2||608657|REc|||| | ||
14.306|5|9|12|14q24.3|KTCN8|P|Keratoconus 8||614628|Fd|between rs1074501 and rs755212||Keratoconus 8 (2)| | ||
14.307|10|28|08|14q24.3|MUSTQTL1|P|Muscle strength quantitative trait locus 1||612083|Fd|||Muscle strength quantitative trait locus 1 (2)| | ||
14.308|3|31|03|14q24.3|NPC2, HE1|C|Epididymal secretory protein HE1||601015|REc, R|||Niemann-pick disease, type C2, 607625 (3)| | ||
14.309|10|9|13|14q24.3|MLH3, HNPCC7|C|Mismatch repair gene MLH3||604395|A|||Colorectal cancer, somatic, 114500 (3); Colorectal cancer, hereditary|nonpolyposis, type 7, 614385 (3); Endometrial cancer, 608089 (3) | |12(Mlh3)|
14.310|12|23|05|14q24.3|NEK9, NERCC1|P|Never in mitosis gene A-related kinase 9||609798|REc|||| | ||
14.311|6|15|99|14q24.2-q24.3|NUMB, S171|P|Numb, Drosophila, homolog of||603728|REn|||| | ||
14.312|11|10|10|14q24.3|POMT2, MDDGA2, MDDGB2, MDDGC2|C|Putative protein O-mannosyltransferase 2||607439|REc|||Muscular dystrophy-dystroglycanopathy (congenital with brain and eye|anomalies), type A, 2, 613150 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3); Muscular|dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3) ||
14.313|3|14|13|14q24.3|PROX2|P|Prospero-related homeobox 2||615094|REc, H|||| | |12(Prox2)|
14.314|2|14|11|14q24.2|PSEN1, AD3|C|Presenilin 1||104311|Fd|||Alzheimer disease, type 3, 607822 (3); Alzheimer disease, type 3,|with spastic paraparesis and unusual plaques, 607822 (3); Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3); Dementia,|frontotemporal, 600274 (3); Pick disease, 172700 (3); Cardiomyopathy, dilated, 1U, 613694 (3); Acne inversa, familial, 3, 613737 (3)||
14.315|8|18|99|14q24.2|RGS6|P|Regulator of G protein signaling 6||603894|REa, R|||| | ||
14.316|6|13|12|14q24.3|SKIIP, SKIP, SNW1, BX42|P|SKI-interacting protein||603055|REc|||| | ||
14.317|12|21|09|14q24.3|SLIRP, C14orf156|P|SRA stem loop-interacting RNA-binding protein||610211|REc|||| | ||
14.318|11|19|11|14q24.3|SYNDIG1L, TMEM90A, CAPUCIN|P|Synapse differentiation-induced gene 1-like||609999|REc|||| | |12(Capucin)|
14.319|9|24|08|14q24.3|TTLL5, STAMP, KIAA0998|P|Tubulin tyrosine ligase-like family, member 5||612268|REc|||| | ||
14.320|5|23|06|14q24.3|TMED10, TMP21|P|Transmembrane EMP24 transport domain-containing protein 10||605406|Fd|||| | ||
14.321|3|14|13|14q24.3|VIPAS39, VIPAR, SPE39, C14orf133|P|VPS33B-interacting protein, apical-basolateral polarity regulator,|spe-39 homolog|613401|REc|||Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)| | ||
14.322|5|6|98|14q22.3|UBE2L1, UBCL, UBC4|P|Ubiquitin-conjugating enzyme E2L 1||600012|Psh, A|||| | ||
14.323|11|5|04|14q32.12|ATXN3, MJD, SCA3|C|Ataxin-3 (josephin)||607047|Fd|||Machado-Joseph disease, 109150 (3)| | ||
14.324|5|19|09|14q31.3-q32.1|FOXN3, CHES1|P|Forkhead box N3||602628|Fd|||| | ||
14.325|12|9|98|14q24.3-q31|IDDM11|P|Insulin-dependent diabetes mellitus-11||601208|Fd|||{Diabetes mellitus, insulin-dependent, 11} (2)| | ||
14.326|12|17|95|14q24.2|MAP3K9, MLK1|P|Mitogen-activated protein kinase kinase kinase 9||600136|REa, A|||| | ||
14.327|11|17|10|14q24.3|SPTLC2, KIAA0526, SPT2, LCB2, HSN1C, NSAN1C|P|Serine palmitoyltransferase, long-chain base subunit 2||605713|REc, R|||Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)| | |12(Sptlc2)|
14.328|11|5|08|14q24.2|DPF3, CERD4|P|D4, zinc and double PHD fingers, family 3||601672|A|||| | ||
14.329|10|4|02|14q24.3-q31.1|NRXN3|C|Neurexin 3||600567|REc|||| | ||
14.330|11|1|13|14q32.13|DICER1, HERNA, KIAA0928, MNG1, RMSE2|P|Dicer, Drosophila, homolog of, 1||606241|REa, R|||Pleuropulmonary blastoma, 601200 (3); Goiter, multinodular 1, with|or without Sertoli-Leydig cell tumors, 138800 (3); Rhabdomyosarcoma, embryonal, 2, 180295 (3)| ||
14.331|5|1|02|14q31.3|GALC|C|Galactosylceraminidase||606890|REa, A, H, Fd|||Krabbe disease, 245200 (3)| | |12(tw)|
14.332|10|14|09|14q31|GRD1|P|Graves disease, susceptibility to, 1||275000|Fd|associated with rs2268458||{Graves disease, susceptibility to, 1} (2)| | ||
14.333|9|2|96|14q32.11|GPR68, OGR1|P|G protein-coupled receptor 68||601404|Psh, A|||| | ||
14.334|8|25|11|14q31|HPPD|P|Hypertelorism, preauricular sinus, punctal pits, and deafness||614187|Fd|||Hypertelorism, preauricular sinus, punctal pits, and deafness (2)| | ||
14.335|4|24|01|14q31.3|KCNK10, TREK2|P|Potassium channel, subfamily K, member 10||605873|REc|||| | ||
14.336|2|18|98|14q31.1|SEL1L|C|Suppressor of lin 12 (sel-1), C. elegans, homolog of||602329|Psh, A, R|||| | ||
14.337|2|21|06|14q31.1|TSHR, CHNG1|C|Thyroid-stimulating hormone receptor||603372|REa, Fd, A, R|||Hypothyroidism, congenital, nongoitrous, 1 275200 (3); Thyroid|adenoma, hyperfunctioning, somatic (3); Hyperthyroidism, nonautoimmune, 609152 (3); Thyroid carcinoma with thyrotoxicosis (3); Hyperthyroidism, familial|gestational, 603373 (3) |12(Tshr)|
14.338|10|24|00|14q32.11|RPS6KA5, MSK1|P|Ribosomal protein S6 kinase, 90kD, 5||603607|R|||| | ||
14.339|12|11|02|14q32.11|TDP1|C|Tyrosyl-DNA phosphodiesterase 1||607198|REc, Fd|||Spinocerebellar ataxia, autosomal recessive with axonal neuropathy,|607250 (3) | ||
14.340|2|21|10|14q32.12|TRIP11, TRIP230, CEV14, ACG1A|C|Thyroid hormone receptor interactor 11||604505|REa, A|||Achondrogenesis, type IA, 200600 (3)| | ||
14.341|3|9|00|14q31.3|GPR65, TDAG8|P|G protein-coupled receptor 65||604620|A|||| | ||
14.342|4|16|10|14q32.13|SERPINA4, KST, PI4|P|Serpin peptidase inhibitor, clade A, member 4||147935|REa, A|in cluster with related AAT, AACT, CBG, PCI||| | ||
14.343|10|2|12|14q31.1|GTF2A1, TF2A1|P|General transcription factor IIA, alpha/beta subunits||600520|REc|||| | ||
14.344|8|8|13|14q31.1|STON2, STN2, STNB|P|Stonin 2||608467|REc, R|||| | ||
14.345|6|19|12|14q31.3|PTPN21, PTPD1|P|Protein-tyrosine phosphatase, nonreceptor-type, 21||603271|REc|||| | ||
14.346|1|3|13|14q31.3|SPATA7, HSD3, LCA3|C|Spermatogenesis-associated protein 7||609868|REc|||Leber congenital amaurosis 3, 604232 (3); Retinitis pigmentosa,|juvenile, autosomal recessive, 604232 (3) | ||
14.347|3|15|10|14q31.3|ZC3H14, SUT2|P|Zinc finger CCCH domain-containing protein 14||613279|REc|||| | ||
14.348|2|21|03|14q32.32|AMN|C|Amnionless, mouse, homolog of||605799|REc, Fd|||Megaloblastic anemia-1, Norwegian type, 261100 (3)| | |12(Amn)|
14.349|6|15|99|14q32.2|CCNK|P|Cyclin K||603544|A|||| | ||
14.350|12|4|03|14q32|CHDS4|P|Coronary heart disease, susceptibility to, 4||608318|Fd|highest LOD with D14S1426||{Coronary heart disease, susceptibility to, 4} (2)| | ||
14.351|12|24|89|14q32.12|CHGA|C|Chromogranin A, parathyroid secretory protein-1||118910|REa, A|||| | |12(Chga)|
14.352|11|19|13|14q32.32|CKB, CKBB, BCK|C|Creatine kinase, brain type||123280|S, REa, Fd|distal to PI and AACT; closely linked to AKT1 and IGH; proximal|to IGH|| | ||
14.353|10|23|87|14q32|CKBE|P|Creatine kinase, ectopic expression||123270|F|linked to IGH, PI; ?same locus as CKBB||[Creatine kinase, brain type, ectopic expression of] (2)| | ||
14.354|8|30|01|14q32.12|DDX24|P|DEAD/H box 24||606181|R|||| | ||
14.355|5|25|00|14q32.31|DIO3, TXDI3|P|Deiodinase, iodothyronine, type 3||601038|A|||| | |12(Dio3)|
14.356|3|15|04|14q32.31|DIO3OS|P|Deiodinase, iodothyronine, type 3, opposite strand||608523|REc|||| | |12(Dio3os)|
14.357|5|2|01|14q32.2|DLK1, PREF1, FA1|P|Delta, Drosophila, homolog-like 1||176290|A|||| | ||
14.358|7|12|13|14q32.31|DYNC1H1, DNCL, DNECL, CMT20, MRD13, SMALED1|C|Dynein, cytoplasmic-1, heavy chain-1||600112|REa, H, REc, Fd|||Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3);|Mental retardation, autosomal dominant 13, 614563 (3); Spinal muscular atrophy, lower extremity-predominant, AD, 158600 (3)| |14(Dnecl)|
14.359|2|15|02|14q32.2|EML1, EMAPL, EMAP|P|Echinoderm microtubule associated protein like 1||602033|REn, REc|||| | ||
14.360|9|7|04|14q32|GEVQ1|P|Gene expression, variation in, quantitative trait locus on chromosome|14|608875|Fd|||{Gene expression, variation in, QTL} (2)| | ||
14.361|12|3|08|14q32.13|GLRX5, C14orf87, PRO1238, FLB4739|C|Glutaredoxin 5||609588|REc, H|||Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive,|205950 (3) | ||
14.362|1|28|02|14q32|HFM|P|Hemifacial microsomia||164210|Fd|||Hemifacial microsomia (2)| | ||
14.363|12|17|95|14q32.12|IFI27|P|Interferon, alpha-inducible protein-27||600009|A|||| | ||
14.364|2|4|02|14q32.33|JAG2|P|Jagged 2||602570|A|||| | |12(Jag2)|
14.365|7|25|06|14q32|MCOP1|P|Microphthalmia, isolated 1||251600|Fd|||Microphthalmia, isolated 1 (2)| | ||
14.366|11|22|10|14q32.2|MEG8|P|Maternally expressed gene 8||613648|REc|||| | ||
14.367|11|22|10|14q32.31|MIR380, MIRN380|P|Micro RNA 380||613654|REc, H|||| | |12(Mir380)|
14.368|8|27|01|14q32.31|RAGE, MOK|P|Renal tumor antigen||605762|REc|||| | ||
14.369|11|20|98|14q32.32|TNFAIP2|P|Tumor necrosis factor, alpha-induced protein-2||603300|Psh, A|||| | ||
14.370|1|17|08|14q32.12|SLC24A4, NCKX4, SHEP6|C|Solute carrier family 24 (sodium/potassium/calcium exchanger),|member 4|609840|REc|||[Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3);|[Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3) | ||
14.371|2|22|13|14q32.2|SLC25A29, CACL, ORNT3|P|Solute carrier family 25 (carnitine/acylcarnitine translocase),|member 29|615064|REc|||| | ||
14.372|11|22|10|14q32.2|SNORD112|P|Small nucleolar, C/D box, 112||613649|REc|located in an intron of MEG8||| | ||
14.373|11|22|10|14q32.2|SNORD113-1|P|Small nucleolar RNA, C/D box, 113-1||613650|REc|||| | ||
14.374|11|3|09|14q32.2|VRK1, PCH1A|P|Vaccinia-related kinase-1||602168|R|||Pontocerebellar hypoplasia type 1A, 607596 (3)| | ||
14.375|12|14|01|14q32.2|BCL11B, CTIP2|P|C-cell CLL/lymphoma 11B||606558|REc|||| | ||
14.376|9|8|06|14q32.12|BTBD7, FUP1|P|BTB/POX domain-containing protein 7||610386|R, REc|||| | ||
14.377|10|4|07|14q32.13|CBG, SERPINA6|C|Corticosteroid-binding globulin||122500|A, REn|||Corticosteroid-binding globulin deficiency, 611489 (3)| | ||
14.378|3|5|03|14q32.2|CYP46A1, CYP46|P|Cytochrome P450, family 46, subfamily A, polypeptide 1|(cholesterol 24-hydroxylase)|604087|A, R|||| | ||
14.379|1|30|12|14q32.12|FBLN5, ARMD3, ADCL2, ARCL1A|C|Fibulin 5||604580|A|||Cutis laxa, autosomal recessive, type IA, 219100 (3); Cutis laxa,|autosomal dominant 2, 614434 (3); Macular degeneration, age-related, 3, 608895 (3)| ||
14.380|10|15|94|14q32.13|GSC|P|Goosecoid||138890|REa, A|||| | |12(Gsc)|
14.381|1|23|02|14q32.12|LGMN, PRSC1|P|Legumain|(protease, cysteine, 1)|602620|A|||| | ||
14.382|12|5|13|14q32.1|SERPINA2P, PIL, ATR, ARGS|P|Serpin peptidase inhibitor, clade A, member 2, pseudogene||107410|REn|?pseudogene||| | ||
14.383|8|17|10|14q32.13|SERPINA1, PI, AAT|C|Alpha-1-antitrypsin (serpin peptidase inhibitor, clade A, member 1)||107400|F, S, A, D, EM, Fd|||Emphysema due to AAT deficiency, 613490 (3); Emphysema-cirrhosis, due|to AAT deficiency, 613490 (3); Hemorrhagic diathesis due to \'antithrombin\' Pittsburgh, 613490 (3); {Pulmonary disease, chronic obstructive, susceptibility|to}, 606963 (1) |12(Aat)|
14.384|1|8|00|14q32.13|SERPINA3, AACT, ACT|C|Alpha-1-antichymotrypsin||107280|REa, A, Fd, REn|220kb from PI||Alpha-1-antichymotrypsin deficiency (3); Cerebrovascular|disease, occlusive (3) | ||
14.385|4|16|10|14q32.13|SERPNA5, PCI|C|Serpin peptidase inhibitor, clade A, member 5|(protein C inhibitor)|601841|Psh, REn|||| | ||
14.386|3|7|05|14q32.13|SERPINA10, ZPI|P|Serine (or cysteine) proteinase inhibitor, clade A, member 10|(protein Z-dependent protease inhibitor precursor)|605271|REc|||{Venous thrombosis, susceptibility to} (3)| | ||
14.387|12|21|98|14q32.13|TCL1A, TCL1|C|T-cell lymphoma/leukemia 1A||186960|Ch, RE|||Leukemia/lymphoma, T-cell (2)| | ||
14.388|12|13|00|14q32.13|TCL1B, TML1|P|T-cell lymphoma/leukemia 1B||603769|Psh|||Leukemia/lymphoma, T-cell (2)| | ||
14.389|9|9|08|14q32.13|TCL6, TNG1, TNG2|P|T-cell leukemia/lymphoma 6||604412|REc|||| | ||
14.390|7|8|10|14q31.3|TTC8, BBS8, RP51|P|Tetratricopeptide repeat domain 8||608132|REc|||Bardet-Biedl syndrome 8, 209900 (3); Retinitis pigmentosa 51,|613464 (3) | ||
14.391|2|11|96|14q32.2|BDKRB1|P|Bradykinin receptor B1||600337|A|||| | ||
14.392|2|11|96|14q32.2|BDKRB2|C|Bradykinin receptor B2||113503|Psh, A|||| | ||
14.393|3|16|01|14q32.2|PAPOLA, PAP|P|Poly(A) polymerase||605553|A, R|||| | ||
14.394|1|9|13|14q32.11|CCDC88C, HKRP2, DAPLE, KIAA1509, HYC|P|Coiled-coil domain-containing protein 88C||611204|REc, R|||Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)| | ||
14.395|2|1|11|14q32.11|PSMC1, S4|P|Proteasome 26S subunit, ATPase, 1||602706|REc|previously assigned to 19p13.3 by FISH||| | |12(Psmc1)|
14.396|4|30|12|14q32.12|ASB2|P|Ankyrin repeat-containing SOCS box protein 2||605759|R, REc|||| | |12(Asb2)|
14.397|3|28|11|14q32.12|CATSPERB, C14orf161|P|Cation channel, sperm-associated, beta||611169|REc|||| | ||
14.398|5|25|13|14q32.12|NDUFB1|P|NADH-ubiquinone oxidoreductase 1 beta subcomplex, 1||603837|REc|||| | ||
14.399|6|5|08|14q32.12|OTUB2, OTU2, OTB2, C14orf137|P|OTU domain-containing ubiquitin aldehyde-binding protein 2||608338|REc|||| | ||
14.400|3|31|11|14q32.12|PRIMA1, PRIMA|P|Proline-rich membrane anchor 1||613851|REc|||| | ||
14.401|8|19|13|14q32.12|SMEK1, PP4R3A, KIAA2010|P|Suppressor of Mek1, Dictyostelium, homolog of, 1||610351|REc, R|||| | ||
14.402|4|15|11|14q32.12|UBR7|P|Ubiquiting protein ligease E3 component N-recognin 7||613816|REc|||| | ||
14.403|11|13|07|14q32.13|SYNE3, C14orf49|P|Spectrin repeat-containing nuclear envelope protein 3|(nesprin 3)|610861|REc|||| | |12(C14orf49)|
14.404|9|10|07|14q32.13|CLMN, KIAA1188|P|Calmin||611121|R, REc|||| | ||
14.405|11|19|11|14q32.13-q32.2|MRT32|P|Mental retardation, autosomal recessive 32||614339|Fd|between rs763357 and rs1956859||Mental retardation, autosomal recessive 32 (2)| | ||
14.406|8|19|13|14q32.2|AK7|P|Adenylate kinase 7||615364|REc|||| | ||
14.407|3|20|07|14q32.2|DEGS2, DES2|P|Degenerative spermatocyte, Drosophila, homolog of, 2||610862|R, REc|||| | ||
14.408|9|8|08|14q32.31|HSP90AA1, HSPCA, HSPC1, HSP90A, HSP89A, HSPCAL4, LAP2|C|Heat-shock protein, 90kD, alpha, class A, member 1||140571|REa|||| | ||
14.409|3|17|08|14q32.2|RTL1, PEG11|P|Retrotransposon-like gene 1||611896|REn, H|||| | |12(Rtl1)|
14.410|3|15|13|14q32.33|AKT1, CWS6|C|Murine thymoma viral (v-akt) oncogene homolog-1||164730|REa, A|proximal to IGH||Breast cancer, somatic, 114480 (3); Colorectal cancer, somatic,|114500 (3); Ovarian cancer, somatic, 167000 (3); {Schizophrenia, susceptibility to}, 181500 (2); Proteus syndrome, somatic, 176920 (3);|Cowden syndrome 6, 615109 (3) |12(Akt)|
14.411|7|1|11|14q32.32|CDC42BPB, MRCKB|P|CDC42-bindingn protein kinase, beta||614062|R, A|||| | ||
14.412|6|15|99|14q32.33|CRIP2, CRP2|C|Cysteine-rich intestinal protein 2||601183|A, REa|||| | ||
14.413|5|25|10|14q32.32|EIF5|P|Eukaryotic translation initiation factor 5||601710|REc|||| | ||
14.414|2|7|05|14q32.33|GPR132, G2A|P|G protein-coupled receptor-132||606167|A|||| | ||
14.415|3|9|07|14q32.33|KLC1, KNS2, KNS2A|C|Kinesin, light chain 1||600025|REa, A|||| | ||
14.416|6|10|98|14q32.32|MARK3|P|MAP/microtubule affinity-regulating kinase-3||602678|A|||| | ||
14.417|1|12|05|14q32.2|MEG3, GTL2|C|Maternally expressed gene 3||605636|REc, REn|100kb from DLK1||| | ||
14.418|5|22|03|14q32.33|MTA1|P|Metastasis-associated gene 1||603526|A|||| | |12(Mta1)|
14.419|5|12|11|14q32.33|XRCC3, CMM6|P|X-ray-repair, complementing defective, repair in Chinese hamster|cells-3|600675|REa, A|||{Melanoma, cutaneous malignant, 6}, 613972 (3); {Breast cancer,|susceptibility to}, 114480 (3) | ||
14.420|4|20|10|14q32.31|CINP|P|CDK2-interacting protein||613362|REc|||| | ||
14.421|2|21|06|14q32.2|HDMCP, C14orf68|P|Heatocellular carcinoma-downregulated mitochondrial carrier protein||609911|REc, H|||| | |12(Hdmcp)|
14.422|3|23|09|14q32.2|MIR127, MIRN127|P|Micro RNA 127||611709|R|||| | ||
14.423|3|23|09|14q32.31|MIR134|P|Micro RNA 134||610164|REc|||| | ||
14.424|3|23|09|14q32.2|MIR136, MIRN136|P|Micro RNA 136||611710|R|||| | ||
14.425|3|23|09|14q32.31|MIR368, MIRN368|P|Micro RNA 368||610983|REc|||| | ||
14.426|7|1|11|14q32.31|MIR369, MIR369-3, MIRN369-3|P|Micro RNA 369||611794|REc|||| | ||
14.427|1|24|09|14q32.2|MIR370, MIRN370|P|Micro RNA 370||612553|REc|||| | ||
14.428|3|23|09|14q32.31|MIR376A-1, MIRN376A-1|P|Micro RNA 376A-1||610959|R|||| | ||
14.429|3|23|09|14q32.31|MIR376A-2, MIRN376A-2|P|Micro RNA 376A-2||610960|R|||| | ||
14.430|3|23|09|14q32.31|MIR376B, MIRN376B|P|Micro RNA 376b||610961|R|||| | ||
14.431|7|1|11|14q32.31|MIR409, MIRN409|P|Micro RNA 409||614057|REc|||| | ||
14.432|1|29|13|14q32.31|MIR410|P|Micro RNA 410||615036|REc|||| | ||
14.433|3|23|09|14q32.2|MIR431, MIRN431|P|Micro RNA 431||611708|R|||| | ||
14.434|3|23|09|14q32.2|MIR433, MIRN433|P|Micro RNA 433||611711|R|||| | ||
14.435|9|9|13|14q32.31|MIR485|P|Micro RNA 485||615385|REc|||| | ||
14.436|1|29|13|14q32.31|MIR487B|P|Micro RNA 487B||615037|REc|||| | ||
14.437|4|8|13|14q32.31|MIR551A|P|Micro RNA 495||615149|REc|||| | ||
14.438|6|4|97|14q32.31|PPP2R5C|P|Protein phosphatase-2, regulatory subunit B (B56), gamma isoform||601645|A|pseudogene on 3p21||| | ||
14.439|1|29|13|14q32.31|TECPR2, KIAA0329, SPG49|P|Tectonin beta-propeller repeat-containing protein 2||615000|REc, R|||Spastic paraplegia 49, autosomal recessive, 615031 (3)| | ||
14.440|9|26|96|14q32.2|WARS|C|Tryptophanyl-tRNA synthetase||191050|S, A, Fd|||| | ||
14.441|12|7|12|14q32.32|TRAF3, CD40BP, LAP1, CAP1, CRAF1, IIAE5|P|TNF receptor-associated factor 3||601896|REc|||{Herpes simplex encephalitis, susceptibility to, 3}, 614849 (3)| | ||
14.442|12|22|08|14q32.33|ADSL1|P|Adenylosuccinate synthase-like 1||612498|REc|||| | ||
14.443|9|24|08|14q32.33|CDCA4, HEPP|P|Cell division cycle-associated protein 4||612270|REc|||| | ||
14.444|11|15|05|14q32.33|CRIP1, CRIP|P|Cysteine-rich intestinal protein 1||123875|Psh, R, H|previously assigned to 7q11.23||| | |12(Crip)|
14.445|3|9|00|14q32.33|C14orf2, MP68|P|MP68, rat, homolog of||604573|R|||| | ||
14.446|4|8|08|14q32.33|IGHD@|C|Immunoglobulin heavy chain diversity gene cluster||146910|RE, REa, A|many genes||| | ||
14.447|10|23|87|14q32.33|IGHA1|C|Constant region of heavy chain of IgA1||146900|REa, A|Fused with IRTA1 in multiple myeloma||| | ||
14.448|10|23|87|14q32.33|IGHA2|C|Constant region of heavy chain of IgA2||147000|REa, A|||| | ||
14.449|4|30|91|14q32.33|IGHD|C|Constant region of heavy chain of IgD||147170|REa, A, Fd|||| | ||
14.450|4|8|08|14q32.33|IGHD3-3, DXP4|P|Immunoglobulin heavy chain diversity gene 3-3||611937|REn|||| | ||
14.451|10|23|87|14q32.33|IGHE|C|Constant region of heavy chain of IgE||147180|REa, A|pseudogene IGHEP1 nearby; IGHEP2 on chr.9||| | ||
14.452|10|23|87|14q32.33|IGHG1|C|Constant region of heavy chain of IgG1||147100|REa, A|||| | ||
14.453|4|8|98|14q32.33|IGHG2|C|Constant region of heavy chain of IgG2||147110|REa, A|5'-G2-17kb-G4-3'; closeness of IGG3 and IGG1 known|from Lepore-like myeloma protein|IgG2 deficiency, selective (3)| | ||
14.454|4|30|91|14q32.33|IGHG3|C|Constant region of heavy chain of IgG3||147120|REa, A, Fd|||| | ||
14.455|10|23|87|14q32.33|IGHG4|C|Constant region of heavy chain of IgG4||147130|REa, A|||| | ||
14.456|4|15|08|14q32.33|IGHJ@|C|Immunoglobulin heavy chain joining gene cluster||147010|RE, REa, A|more than 4 genes||| | ||
14.457|8|10|10|14q32.33|IGHM, MU, AGM1|C|Constant region of heavy chain of IgM||147020|REa, A|||Agammaglobulinemia 1, 601495 (3)| | ||
14.458|9|15|89|14q32.33|IGHR|L|Immunoglobulin heavy chain regulator||144120|F|||?Hyperimmunoglobulin G1 syndrome (2)| | ||
14.459|4|15|08|14q32.33|IGHV@|C|Immunoglobin heavy polypeptide, variable gene cluster||147070|REa, RE, A|~250 genes; orientation: cen-PI-D14S1-IGH-IGHV--qter; 3'|centromeric, 5' telomeric; IgM telomeric to IgG|| | ||
14.460|2|21|10|14q32.33|KIF26A, KIAA1236|P|Kinesin family member 26A||613231|R, REc|||| | ||
14.461|4|15|08|14q32.33|IGHV3-23, IGHV323, DP47, VH26|P|Immunoglobulin heavy chain variable gene 3-23||611939|REn|||| | ||
14.462|1|30|12|14q32.33|INF2, FSGS5, C14orf173, CMTDIE|P|Inverted formin 2||610982|REc|||Glomerulosclerosis, focal segmental, 5, 613237 (3);|Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3) | ||
14.463|3|23|09|14q32.33|MIR203, MIRN203|P|Micro RNA 203||611899|REc|||| | ||
14.464|5|24|13|14q32.33|PACS2, KIAA0602|C|Phosphofurin acidic cluster sorting protein 2||610423|R, REc|||| | ||
14.465|4|26|11|14q32.33|ZBTB42, ZNF925|P|Zinc finger- and BTB domain-containing protein 42||613915|REc|||| | ||
14.466|12|15|10|14q32.33|ZFYVE21, ZF21|P|Zinc finger FYVE domain-containing protein 21||613504|REc|||| | ||
14.467|10|23|87|Chr.14|LCH|C|Lentil agglutinin-binding||151020|S|||| | ||
14.468|5|12|00|14q21.3-q22.1|MAP4K5, MAPKKKK5|P|Mitogen-activated protein kinase kinase kinase kinase-5||604923|R|||| | ||
14.469|9|3|02|14q12|NFATC4|P|Nuclear factor of activated T cells, cytoplasmic,|calcineurin-dependent 4|602699|R|||| | ||
14.470|11|21|02|14q22.1|NID2|P|Nidogen 2||605399|H|||| | |14(Nid2)|
14.471|1|27|04|Chr.14|PHOBS|P|Phobia, specific||608251|Fd|||Phobia, specific (2)| | ||
14.472|9|20|00|14q21.1|PNN, DRS|P|Pinin||603154|R|||| | ||
14.473|4|4|03|14q32.31|RCOR, COREST, KIAA0071|P|REST corepressor||607675|R|||| | ||
14.474|1|28|02|14q21.3|RPL36AL, RPL36A|P|Ribosomal protein L36a-like||180469|Psh|||| | ||
14.475|2|21|11|14q24.2|SMOC1, OAS|P|SPARC-related modular calcium-binding 1||608488|REc|||Microphthalmia with limb anomalies, 206920 (3)| | ||
15.1|4|26|90|15p12|RNR3|C|Ribosomal RNA-3||180452|A|||| | ||
15.2|9|28|00|15q25.2|AP3B2, NAPTB|L|Adaptor-related protein complex 3, beta 2 subunit||602166|H|||| | |7(Naptb)|
15.3|11|16|98|15q13.1|APBA2|P|Amyloid beta A4 precursor protein-binding, family A, member 2||602712|R|||| | |7(Apba2)|
15.4|2|1|00|15q|HYT2|P|Hypertension, essential, susceptibility to, 2||604329|Fd|||{Hypertension, essential, susceptibility to, 2}, 145500 (2)| | ||
15.5|5|24|01|15q|LCS1, CHLS|P|Cholestasis-lymphedema syndrome||214900|Fd, HZ|||Cholestasis-lymphedema syndrome (2)| | ||
15.6|1|13|99|15q21.3|NEDD4|P|Neural precursor cell expressed, developmentally downregulated-4||602278|H, A|||| | ||
15.7|10|20|99|15q22.31|RPL4|P|Ribosomal protein L4||180479|REa, R|||| | ||
15.8|1|13|09|15q25.2|RPS17, RPS17L1, RPS17L2, DBA4|P|Ribosomal protein S17||180472|Psh, R|previously on chr.11; pseudogenes on 5q33-qter and 17q||Diamond-Blackfan anemia 4, 612527 (3)| | ||
15.9|5|16|07|15q11|AUTS4|P|Autism, susceptibility to, 4||608636|Ch|||{Autism susceptibility 4} (2)| | ||
15.10|11|15|08|15q11.2|CYFIP1, KIAA0068|P|Cytoplasmic FMRP interacting protein 1||606322|R, REc|||| | ||
15.11|7|17|91|15q11-q12|IGHDY2|P|Immunoglobulin heavy chain diversity region-2||146990|A|?functional||| | ||
15.12|10|23|87|15q11-q12|MIC7|P|Attached cell antigen 28.3.7||108990|S|||| | ||
15.13|6|5|03|15q12|ATP10A, ATP10C, ATPVC|C|ATPase, class V, type 10A||605855|R, REc, D|||| | ||
15.14|4|4|06|15q11-q13|CELIAC5, GSES|P|Celiac disease, susceptibility to, 5||607202|Fd|in homogeneous Finnish population||{Celiac disease, susceptibility to, 5} (2)| | ||
15.15|11|28|05|15q11-q13|GLC1I|P|Glaucoma 1, open angle, I||609745|Fd|max lod at GABRB3||Glaucoma 1, open angle, I (2)| | ||
15.16|11|8|96|15q11.2|IPW|P|Imprinted in Prader-Willi syndrome||601491|REc|||| | ||
15.17|1|25|93|15q24.2|MAN2C1, MANA|C|Mannosidase, alpha, class 2C, member 1||154580|S, D|||| | ||
15.18|8|1|13|15q11.2|MKRN3, ZFP127, ZNF127, CPPB2|P|Makorin 3||603856|REc|expressed only from paternal allele||Precocious puberty, central, 2, 615346 (3)| | |7(Znf127)|
15.19|11|3|99|15q11-q13|MRKN3AS, ZNF127AS|P|MKRN3 antisense RNA||603857|REc|||| | ||
15.20|4|5|00|15q11.2|NDN|C|Necdin||602117|A, Psh, REc|||Prader-Willi syndrome, 176270 (3)| | |7(Ndn)|
15.21|11|13|94|15q11.2|D15S227E, PAR1|P|Prader-Willi/Angelman region-1||600161|REn|paternally imprinted||| | ||
15.22|11|13|94|15q11.2|D15S226E, PAR5|P|Prader-Willi/Angelman syndrome-5||600162|REn|paternally imprinted||| | ||
15.23|2|20|97|15q11.2|UBE3A, ANCR|C|Ubiquitin protein ligase E3A||601623|Ch, D, REc|same location as PWS||Angelman syndrome, 105830 (3)| | ||Clayton-Smith (1992); Kuwano (1992)
15.24|6|6|12|15q13.3|SCG5, SGNE1|P|Secretogranin V (7B2 protein )||173120|A|||| | |2(Sgne1)|
15.25|5|3|10|15q11-q21.1|RCHTS|L|Roifman-Chitayat syndrome||613328|Fd|?1p36.23-p33||?Roifman-Chitayat syndrome (2)| | ||
15.26|10|29|91|15q11-q22|MIC12|P|Antigen identified by monoclonal antibody 30.2A8||107254|S|in myoblasts, but not myotubes||| | ||
15.27|7|5|92|15q11-qter|HCVS|P|Human coronavirus sensitivity||122460|S|||| | ||
15.28|5|2|01|15q15.1|EHD4|P|EH domain-containing 4||605892|R|||| | ||
15.29|4|27|12|15q11.2|NIPA1, SPG6|C|Nonimprinted gene in Prader-Willi syndrome/Angelman syndrome|chromosome region 1|608145|Fd, REc|||Spastic paraplegia 6, autosomal dominant, 600363 (3)| | |7(Nipa1)|
15.30|12|23|13|15q11.2|MAGEL2, NDNL1, PWLS|P|MAGE-like 2||605283|REc|||Prader-Willi-like syndrome, 615547 (3)| | |7(Magel2)|
15.31|3|14|13|15q11.2|NBEAP1, BCL8|P|Neurobeachin pseudogene 1||601889|REc, A|||Lymphoma, diffuse large cell (3)| | ||
15.32|4|25|06|15q11.2|NIPA2|C|Nonimprinted gene in Prader-Willi syndrome/Angelman syndrome|chromosome region 2|608146|REc, H|||| | |7(Nipa2)|
15.33|5|26|13|15q11.2|PWRN1|P|Prader-Willi region noncoding RNA 1||611215|REc|||| | ||
15.34|5|26|13|15q11.2|PWRN2|P|Prader-Willi region noncoding RNA 2||611217|REc|||| | ||
15.35|3|16|10|15q11.2|SNORD115-1, RNHBII52|C|Small nucleolar RNA, C/D box, 115-1||609837|REn, REc|||| | ||
15.36|3|16|10|15q11.2|SNORD116-1, PWCR1|P|Small nucleolar RNA, C/D box, 116-1||605436|REc|||| | ||
15.37|11|21|03|15q11.2|TUBGCP5, GCP5, KIAA1899|C|Tubulin-gamma complex-associated protein 5||608147|REc, H|||| | |7(Gcp5)|
15.38|10|6|09|15q12|GABRB3, ECA5|C|Gamma-aminobutyric acid (GABA) A receptor, beta-3||137192|A, H, D, REn|||Insomnia (3); {Epilepsy, childhood absence, susceptibility to, 5},|612269 (3) | |7(Gabrb3)|
15.39|1|9|95|15q12|GABRA5|C|Gamma-aminobutyric acid (GABA) A receptor, alpha-5||137142|A, REa, REb, D, REn|100kb from GABRB3||| | |7(Gabra5)|
15.40|1|9|95|15q12|GABRG3|P|Gamma-aminobutyric acid (GABA) A receptor, gamma-3||600233|REn|cen--G3--A5--B3||| | ||
15.41|4|18|05|15q11.2-q12|MGR7|P|Migraine with aura, susceptibility to, 7||609179|Fd|between D15S113 and D15S1019||{Migraine with aura, susceptibility to, 7} (2)| | ||
15.42|1|17|08|15q12-q13|OCA2, P, PED, D15S12, BOCA, EYCL3, HCL3, SHEP1|C|Pink-eye dilution, murine, homolog of (oculocutaneous albinism II)||611409|D, REa, Fd|?hypopigmentation in PWS and AS||Albinism, oculocutaneous, type II, 203200 (3); Albinism, brown|oculocutaneous, 203200 (3); [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3); [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)| |7(p)|
15.43|8|14|00|15q11.2-q13.1|HTGS|P|Hypertriglyceridemia, familial||145750|Fd|||{Hypertriglyceridemia, susceptibility to} (2)| | ||
15.44|8|21|07|15q12|HPC7|P|Prostate cancer, hereditary, 7||610321|Fd|||{Prostate cancer, hereditary, 7} (2)| | ||
15.45|12|14|10|15q13.3|KLF13, RFLAT1, FKLF2|P|Kruppel-like factor 13||605328|REc|||| | ||
15.46|6|15|12|15q11.2|NPAP1, C15orf2|P|Nuclear pore associated protein 1||610922|REc|||| | ||
15.47|4|5|00|15q11.2|SNRPN|P|Small nuclear ribonucleoprotein polypeptide N||182279|REa, D|||Prader-Willi syndrome, 176270 (3)| | |7(Snrpn)|
15.48|7|25|06|15q12-q15|MCOPCB2|P|Microphthalmia, isolated, with coloboma 2||605738|Fd|||Microphthalmia with coloboma 2 (2)| | ||
15.49|2|16|04|15q13|ATD1|P|Asphyxiating thoracic dystrophy 1||208500|Fd|||Asphyxiating thoracic dystrophy 1 (2)| | ||
15.50|9|22|09|15q13|SCZD13|P|Schizophrenia 13||613025|Ch|associated with deletion at 15q13.3||{Schizophrenia, susceptibility to, 13} (2)| | ||
15.51|2|18|96|15q13.1|TJP1|P|Tight junction protein 1 (zona occludens 1)||601009|A|||| | |7(Tjp1)|
15.52|8|21|98|15q13.3|FMN, LD|C|Formin (limb deformity)||136535|REa, A, Fd, Psh|||| | |2(ld)|
15.53|10|7|02|15q14|SLC12A6, KCC3A, KCC3B, KCC3, ACCPN|C|Solute carrier family 12 (potassium/chloride transporters), member 6||604878|A, R, REa, Fd|||Agenesis of the corpus callosum with peripheral neuropathy, 218000|(3) | ||
15.54|1|31|13|15q13.3|TRPM1, MLSN1, CSNB1C|P|Transient receptor potential cation channel, subfamily M, member 1|(melastatin)|603576|R|||Night blindness, congenital stationary (complete), 1C, autosomal|recessive, 613216 (3) | |7(Mlsn1)|
15.55|10|23|87|15q13-q15|B2MR|C|Beta-2-microglobulin regulator||109710|D|||| | ||
15.56|6|15|12|15q13.3|GREM1, CKTSF1B1|P|Gremlin 1 homolog, cystine knot superfamily||603054|Psh, R|||| | ||
15.57|11|13|94|15q15.3|MAP1A, MAP1L|P|Microtubule-associated protein 1A||600178|Psh|||| | ||
15.58|11|19|13|15q13.1|HERC2, SHEP1, MRT38|C|HECT domain and RCC1-like domain 2||605837|Psh, R, REc|mutations in intron 4||[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3);|[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3); Mental retardation, autosomal recessive 38, 615516 (3)| ||
15.59|1|27|04|15q13.1|NDNL2, MAGEG1|P|Necdin-like gene 2||608243|REc, H|||| | |7(Ndnl2)|
15.60|5|11|04|15q13.1-q15.1|CILD4|P|Ciliary dyskinesia, primary, 4||608646|Fd|between D15S1012 and D15S1048||Ciliary dyskinesia, primary, 4 (2)| | ||
15.61|11|30|06|15q13.3|ARHGAP11A, KIAA0013|P|RHO GTPase-activating protein 11A||610589|Psh, REc|||| | ||
15.62|9|16|09|15q14|SPRED1, NFLS|C|Sprouty-related EVH1 domain-containing protein 1||609291|REc|||Legius syndrome, 611431 (3)| | |2(Spred1)|
15.63|9|14|12|15q13.2-q13.3|FAN1, MTMR15, KIAA1018, KMIN|P|FANCD2/FANCI-associated nuclease 1||613534|REc|||Interstitial nephritis, karyomegalic, 614817 (3)| | ||
15.64|7|11|11|15q15.1|CHP|P|Calcineurin B homologous protein||606988|R, REc|||| | ||
15.65|9|22|09|15q13.3|DEL15q13.3, MICRODEL15q13.3|P|Chromosome 15q13.3 microdeletion syndrome||612001|Ch|||Chromosome 15q13.3 microdeletion syndrome (4)| | ||
15.66|2|22|11|15q13.3|MIR211, MIRN211|P|Micro RNA 211||613753|REc|||| | ||
15.67|10|18|11|15q15.1|NDUFAF1, CIA30, CGI65|P|NADH-ubiquinone oxidoreductase 1 alpha subcomplex, assembly factor 1||606934|REc|||Mitochondrial complex I deficiency, 252010 (3)| | ||
15.68|6|5|08|15q13.3|OTUD7A, OTUD7, C16orf15, CEZANNE2|P|OTU domain-containing protein 7A||612024|REc|||| | ||
15.69|6|16|10|15q14|ACTC1, CMD1R, CMH11, ASD5, LVNC4|C|Actin, alpha, cardiac muscle||102540|REa, Fd, A|||Cardiomyopathy, dilated, 1R, 613424 (3); Cardiomyopathy, familial|hypertrophic, 11, 612098 (3); Atrial septal defect 5, 612794 (3); Left ventricular noncompaction 4, 613424 (3)| |2(Actc1)|
15.70|6|9|08|15q14|AGPAT7, AYTL3|P|1-acylglycerol-3-phosphate O-acyltransferase 7||612039|REc|||| | ||
15.71|5|26|13|15q14|AQR, IBP160, KIAA0560|P|Aquarius, mouse, homolog of||610548|R, REc|||| | |2(Aqr)|
15.72|7|9|06|15q15.1|BMF|P|BCL2-modifying factor||606266|REn|||| | ||
15.73|5|8|97|15q13.3|CHRNA7|C|Cholinergic receptor, nicotinic, alpha polypeptide-7||118511|A|||Schizophrenia, neurophysiologic defect in (2)| | |7(Acra7)|
15.74|11|22|13|15q15.1|CHST14, D4ST1, ATCS, EDSMC1|b|Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14||608429|REc|||Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)| | ||
15.75|9|22|09|15q14|EIG7, EJM2|P|Epilepsy, idiopathic generalized, susceptibility to, 7||604827|Fd|?role of CHRNA7||{Epilepsy, idiopathic generalized, susceptibility to, 7} (2);|Epilepsy, juvenile myoclonic (2) | ||
15.76|12|27|07|15q14|GJD2, GJA9, CX36|P|Gap junction protein, delta-2 (connexin 36)||607058|A, H|||| | |2(Gja9)|
15.77|10|5|04|15q14|GOLGA8B, KIAA0855|P|Golgi autoantigen, golgin subfamily A, 8B||609619|R, REc|||| | ||
15.78|8|29|08|15q14-q15|GPR176|P|G protein-coupled receptor 176||612183|R, REc|||| | ||
15.79|3|31|03|15q15.1|IVD|P|Isovaleryl Coenzyme A dehydrogenase||607036|REa|||Isovaleric acidemia, 243500 (3)| | ||
15.80|12|28|11|15q14|NOLA3, NOP10, DKCB1|C|Nucleolar protein family A, member 3||606471|R, Fd|||Dyskeratosis congenita, autosomal recessive 1, 224230 (3)| | ||
15.81|11|4|93|15q14|RYR3|C|Ryanodine receptor-3||180903|A, Psh|||| | |2(Ryr3)|
15.82|10|16|92|15q15.1|ITPKA|P|Inositol 1,4,5-trisphosphate 3-kinase A||147521|A|||| | ||
15.83|7|15|99|15q14|MEIS2, MRG1|P|Meis1, mouse, homolog of, 2||601740|Psh|||| | |2(Mrg1)|
15.84|4|17|13|15q21.1|BLOC1S6, BLOS6, PLDN, PA, HPS9|P|Biogenesis of lysosome-related organelles complex 1, subunit 6||604310|R|||Hermansky-pudlak syndrome 9, 614171 (3)| | |2(Pa)|
15.85|2|19|13|15q15.1|BUB1B, BUBR1, MVA1|C|Budding uninhibited by benzimidazoles 1, S. cerevisiae, homolog of,|beta|602860|A|||Colorectal cancer, somatic, 114500 (3); Mosaic variegated aneuploidy|syndrome 1, 257300 (3); [Premature chromatid separation trait], 176430 (3) | ||
15.86|1|8|03|15q15.2|CDAN1, CDA1|C|Codanin 1||607465|Fd, LD|||Anemia, congenital dyserythropoietic, type I, 224120 (3)| | ||
15.87|7|26|10|15q15.3|CKMT1A|P|Creatine kinase, mitochondrial 1A||613415|REc|telomeric to CKMT1B||| | ||
15.88|1|9|95|15q15.3|CKMT1B, CKMT1|C|Creatine kinase, mitochondrial 1B||123290|REa, A|centromeric to CKMT1A||| | |2(Ckmt1)|
15.89|5|19|09|15q21.1|DUOXA1|P|Dual oxidase maturation factor 1||612771|REc|tail-to-tail with DUOXA2||| | ||
15.90|9|29|09|15q21.1|DUOXA2, TDH5|P|Dual oxidase maturation factor 2||612772|REc|head-to-head with DUOX2||Thyroid dyshormonogenesis 5, 274900 (3)| | ||
15.91|3|31|09|15q15.2|EPB42, SPH5|C|Erythrocyte surface protein band 4.2||177070|A|||Spherocytosis, hereditary, type 5, 612690 (3)| | |2(Epb4.2)|Ideguchi (1990); Bouhassira (1992)
15.92|4|13|98|15q15.3|GRP58|P|Glucose regulated protein, 58kD||602046|A|||| | |2(Grp58)|
15.93|7|13|09|15q15.1|PLA2G4D|P|Phospholipase A2, Group IVD||612864|REc|||| | ||
15.94|6|10|02|15q15.1|PLCB2|P|Phospholipase C, beta-2||604114|REa, A|||Platelet PLC beta-2 deficiency (1)| | ||
15.95|8|9|99|15q14|RASGRP1|P|Ras guanyl nucleotide releasing protein-1||603962|A|||| | |2(Rasgrp1)|
15.96|8|3|12|15q15|SCZD10|P|Schizophrenia 10||605419|Fd|between D15S1042 and D15S659||{Schizophrenia 10} (2)| | ||
15.97|8|30|01|15q21.1|SLC28A2, CNT2, SPNT1|C|Solute carrier family 28 (sodium-coupled nucleoside transporter),|member 2|606208|R, A|||| | |2(Slc28a2)|
15.98|6|1|12|15q15.2|STARD9, KIAA1300|C|START domain-containing protein 9||614642|R, REc|||| | ||
15.99|11|8|01|15q15.3|STRC, DFNB16|C|Stereocilin||606440|REc, Fd|||Deafness, autosomal recessive 16, 603720 (3)| | ||
15.100|6|5|90|15q14|THBS1|P|Thrombospondin 1||188060|REa, A|||| | |2(Thbs1)|
15.101|1|7|09|15q15.3|TUBGCP4, GCP4|P|Tubulin-gamma complex-associated protein 4||609610|R, REc|||| | ||
15.102|1|12|95|15q15.3|MFAP1|C|Microfibrillar-associated protein-1||600215|REa, A, REc|||| | ||
15.103|5|6|03|15q22.2|TLN2, KIAA0320|C|Talin 2||607349|R, REc|||| | ||
15.104|9|20|00|15q15.3|TP53BP1, 53BP1|P|Tumor protein p53-binding protein-1||605230|A|||| | ||
15.105|6|19|98|15q21.1|DUT|P|dUTP pyrophosphatase||601266|A|||| | ||
15.106|5|29|98|15q21.2|FGF7|C|Fibroblast growth factor-7 (keratinocyte growth factor)||148180|A, H|||| | |2(Fgf7)|
15.107|8|23|04|15q21.1|SLC12A1, NKCC2|C|Solute carrier family 12 (sodium/potassium/chloride transporters),|member 1|600839|H, Fd, LD|||Bartter syndrome, type 1, 601678 (3)| | |2(Slc12a1)|
15.108|12|7|05|15q15.2|UBR1, JBS|C|Ubiquitin-protein ligase E3-alpha||605981|H, REc, Fd|||Johanson-Blizzard syndrome, 243800 (3)| | |2(Ubr1)|
15.109|4|15|11|15q15.1|BAHD1, KIAA0945|P|BROMO-adjacent homology domain-containing protein 1||613880|R, REc|||| | ||
15.110|7|13|12|15q15.1|C15orf23, SKAP|P|Chromosome 15 open reading frame 23||614718|REc|||| | ||
15.111|10|25|12|15q15.1|CASC5, AF15Q14, KIAA1570, D40, MCPH4|C|Cancer susceptibility candidate 5||609173|A, REc|||Microcephaly 4, primary, autosomal recessive, 604321 (3)| | ||
15.112|4|27|12|15q15.1|CHAC1|P|ChaC, E. coli, homolog of, 1||614587|REc|||| | ||
15.113|9|23|08|15q15.1|FAM82A2, FAM82C, RMD3, PTPIP51|P|Family with sequence similarity 82, member A2||611873|REc|||| | ||
15.114|5|25|13|15q15.1|GCHFR, GFRP|P|GTP cyclohydrolase I feedback regulatory protein||602437|REc|||| | ||
15.115|7|3|06|15q15.1|INOC1, INO80|P|INO80 complex homolog 1||610169|REc|||| | ||
15.116|7|15|09|15q15.1|NUSAP1, ANKT, NUSAP|P|Nucleolar and spindle-associated protein 1||612818|REc|||| | ||
15.117|5|10|11|15q15.1|PAK6|P|p21-activated kinase 6||608110|R, REc|||| | ||
15.118|3|3|10|15q15.1|PPP1R14D, GBPI1|P|Protein phosphatase 1, regulatory subunit 14D||613256|REc|||| | ||
15.119|3|29|12|15q15.1|RAD51A, RECA, MRMV2|C|RAD51, S. cerevisiae, homolog of, A (E. coli RecA homolog)||179617|REa, A|||{Breast cancer, susceptibility to}, 114480 (3); Mirror movements 2,|614508 (3) | |2(Rad51)|
15.120|10|13|09|15q15.1|RPAP1, KIAA1403|P|RNA polymerase II-associated protein 1||611475|R, REc|||| | ||
15.121|9|2|10|15q15.1|RTF1, KIAA0252|C|RTF1, S. cerevisiae, homolog of||611633|R|||| | ||
15.122|8|29|08|15q15.1|VPS39, VAM6, TLP, KIAA0770|P|Vacuolar protein sorting 39, yeast, homolog of||612188|R, REc|||| | ||
15.123|1|2|03|15q15.1|GANC|C|Neutral alpha-glucosidase C||104180|S, REc|||| | ||
15.124|6|9|98|15q15.1-q21.1|ALS5|P|Amyotrophic lateral sclerosis 5, juvenile recessive||602099|Fd|||Amyotrophic lateral sclerosis 5, juvenile recessive (2)| | ||
15.125|11|2|95|15q15.1|CAPN3, CANP3|C|Calpain, large polypeptide L3||114240|REb, Fd, A, REn, H|||Muscular dystrophy, limb-girdle, type 2A, 253600 (3)| | |2(Canp3)|
15.126|1|9|95|15q15.1|LTK, TYK1|C|Leukocyte tyrosine kinase||151520|REa, Psh|||| | |2(Ltk)|
15.127|6|14|95|15q15.1|TYRO3|C|TYRO3 protein tyrosine kinase||600341|REa, Psh, REn|||| | |2(Tyro3)|
15.128|9|7|10|15q15.2|HAUS2, CEP27|P|HAUS augmin-like complex, subunit 2||613429|REc|||| | ||
15.129|12|28|05|15q15.2|TGM5, TGX|C|Transglutaminase 5||603805|A, Fd|||Peeling skin syndrome, acral type, 609796 (3)| | ||
15.130|3|26|02|15q15.2|TGM7, TGMZ|P|Transglutaminase 7||606776|Psh, R|||| | |2(Tgm7)|
15.131|1|2|08|15q15.2|TTBK2, SCA11|C|Tau tubulin kinase 2||611695|Fd, REc|||Spinocerebellar ataxia 11, 604432 (3)| | ||
15.132|1|15|09|15q15.3|DEL15q15.3, C15DELq15.3|P|Chromosome 15q15.3 deletion syndrome||611102|Ch|||Deafness and male infertility (4)| | ||
15.133|1|11|07|15q21.1|DUOX1, THOX1|C|Dual oxidase 1 (thyroid oxidase 1)||606758|A, R, H|||| | |2(Duox1)|
15.134|9|29|09|15q21.1|DUOX2, THOX2, TDH6|C|Dual oxidase 2 (thyroid oxidase 2)||606759|A, R, H|||Thryoid dyshormonogenesis 6, 607200 (3)| | |2(Duox2)|
15.135|10|3|07|15q21.1|EIF3J, EIF3S1|P|Eukaryotic translation initiation factor 3, subunit J||603910|REc|||| | ||
15.136|2|10|06|15q15.3|ELL3|P|Elongation factor, RNA polymerase II, 3||609885|R, REc|||| | ||
15.137|6|7|10|15q15.3|FRTS1, FRTS, RFS|P|Fanconi renotubular syndrome||134600|Fd|||Fanconi renotubular syndrome 1 (2)| | ||
15.138|7|11|39|15q21.1|GATM, AGAT, CCDS3|C|L-arginine:glycine amidinotransferase||602360|Psh, R, H|||Cerebral creatine deficiency syndrome 3, 612718 (3)| | |2(Gatn)|
15.139|5|22|07|15q15.3|HISPPD2A, IPS1, IP6K, KIAA0377|P|Histidine acid phosphatase domain-containing protein 2A||610979|R, REc|||| | ||
15.140|5|19|09|15q15.3|HYPK|P|Huntingtin-interacting protein K||612784|REc|||| | ||
15.141|5|26|13|15q15.3|LCMT2, TYW4, KIAA0547|P|Leucine carboxyl methyltransferase 2||611246|REc|||| | ||
15.142|10|30|06|15q21.2|LEO1, RDL|P|LEO1 RNA polymerase II associated factor, S. cerevisiae, homolog of||610507|REc|||| | ||
15.143|4|2|12|15q15.3|SERINC4|P|Serine incorporator 4||614550|REc|||| | ||
15.144|8|31|99|15q21.1|SORD, SORD1|C|Sorbitol dehydrogenase||182500|S, H, A, REa, Psh|||?Cataract, congenital (2)| | |2(Sdh1)|
15.145|11|12|03|15q21.2|SPPL2A, IMP3|P|Signal peptide peptidase-like 2A||608238|REc|||| | ||
15.146|6|15|12|15q15.3-q22.1|HMPS1, CRAC1, CRCS4, DUP15q, C15DUPq|P|Polyposis syndrome, mixed, hereditary 1||601228|Fd|duplication of 40kb of 15q resulting in overexpression of GREM1||Polyposis syndrome, mixed hereditary 1 (4); {Colorectal cancer,|susceptibility to, 4} (4) | ||
15.147|6|13|02|15q21.2|BCL2L10|C|BCL2-like 10||606910|REc, R|||| | |9(Bcl2l10)|
15.148|3|20|95|15q21|CDAN3, CDA3|P|Congenital dyserythropoietic anemia, type III||105600|Fd|||Dyserythropoietic anemia, congenital, type III (2)| | ||
15.149|11|10|13|15q21.3|DYX1C1, DYXC1, DYX1, CILD25|C|Dyslexia susceptibility 1 candidate 1||608706|Fd, REc|not confirmed by some studies||{Dyslexia, susceptibility to, 1}, 127700 (3); Ciliary dyskinesia,|primary, 25, 615482 (3) | ||
15.150|6|20|13|15q22.31|MAP2K1, PRKMK1, MKK1, MEK1, CFC3|C|Mitogen-activated protein kinase kinase 1||176872|R, REa, A|pseudogene on 8p21||Cardiofaciocutaneous syndrome 3, 615279 (3)| | |9(Mek1)|
15.151|4|28|10|15q21.2|MYO5A, MYH12, GS1|C|Myosin Va||160777|REa, A, Fd|||Griscelli syndrome, type 1, 214450 (3)| | |9(d, Myh12)|
15.152|4|19|06|15q21.2|MYO5C|P|Myosin Vc||610022|REc|||| | ||
15.153|6|25|08|15q22.31|OSTB|P|Organic solute transporter, beta||612085|REc|||| | |9(Ostb)|
15.154|3|17|03|15q21.3|RAB27A, RAM, GS2|P|Ras-associated protein RAB27A||603868|A, REc|||Griscelli syndrome, type 2, 607624 (3)| | |9(ash, Rab27a)|
15.155|5|29|01|15q15.1|SPTBN5, BSPECV|P|Spectrin, beta, non-erythrocytic 5||605916|REc|||| | ||
15.156|7|22|13|15q21.3|TCF12, HTF4, CRS3|C|Transcription factor-12 (HTF4, helix-loop-helix transcription|factors-4)|600480|REa, A, REc|||Craniosynostosis 3, 615314 (3)| | ||
15.157|5|2|06|15q21.2|TRPM7, LTRPC7, CHAK, ALSPDC|P|Transcient receptor potential cation channel, subfamily M, member 7||605692|REc|||{Amyotrophic lateral sclerosis-parkinsonism/dementia complex,|susceptibility to}, 105500 (3) | ||
15.158|10|29|03|15q22.31|ACP33, MAST, SPG21|C|Acidic cluster protein, 33kD, (maspardin)||608181|REc, Fd|||Mast syndrome, 248900 (3)| | ||
15.159|3|19|91|15q22.2|ANXA2, ANX2L4, LPC2D, LIP2|C|Annexin A2 (lipocortin I)||151740|REa, Psh|pseudogenes ANX2P1 on 4q21-q31; ANX2P2 on 9p13; ANX2P3 on 10q24-q22||| | ||
15.160|7|3|06|15q21.1|B2M|C|Beta-2-microglobulin||109700|S, D, H|on 15q+ in APL||Hypoproteinemia, hypercatabolic, 241600 (3)| | |2(B2m)|
15.161|7|22|13|15q21-q22|CTRCT25, CCSSO|P|Cataract 25||605728|Fd|||Cataract 25 (2)| | ||
15.162|1|9|95|15q21.2|HDC|C|Histidine decarboxylase||142704|REa, Psh, A|||| | |2(Hdc)|
15.163|8|2|11|15q22.2|MYO1E, MYO1C, FSGS6|P|Myosin IE||601479|A|||Glomerulosclerosis, focal segmental, 6, 614131 (3)| | |9(Myo1e)|
15.164|8|16|99|15q21.3|PIGB|P|Phosphatidylinositol glycan, class B||604122|A|||| | ||
15.165|11|3|09|15q22.31|PPIB, CYPB, OI9|P|Peptidyl-prolyl isomerase B||123841|REc|||Osteogenesis imperfecta, type IX, 259440 (3)| | ||
15.166|2|18|96|15q22.2|RORA|P|RAR-related orphan receptor A||600825|A|||| | |9(Rora)|
15.167|9|25|12|15q22.31|SMAD6, MADH6, AOVD2|P|Mothers against decapentaplegic, Drosophila, homolog of, 6||602931|Psh, REc|||Aortic valve disease 2, 614823 (3)| | ||
15.168|4|17|01|15q15.1-q15.2|SNAP23|P|Synaptosomal-associated protein, 23kD||602534|A|||| | ||
15.169|1|5|12|15q23|CLN6, CLN4A|C|CLN6 gene||606725|Fd, LD|||Ceroid lipofuscinosis, neuronal, 6, 601780 (3); Ceroid|lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3) | |9(nclf, Cln6)|
15.170|1|4|13|15q21.1|CEP152, KIAA0912, MCPH9, SCKL5|P|Centrosomal protein, 152kD||613529|R, REc|||Microcephaly 9, primary, autosomal recessive, 614852 (3);|Seckel syndrome 5, 613823 (3) | ||
15.171|9|20|10|15q21.2|CYP19A1, CYP19, ARO|C|Cytochrome P450, family 19, subfamily A, polypeptide 1|(aromatization of androgens)|107910|REa, A, H|close to CYP11 in mouse||Aromatase deficiency, 613546 (3); Aromatase excess syndrome, 139300|(3) | |9(Cyp19)|
15.172|8|23|00|15q15.1|DLL4|P|Delta-like 4||605185|R|||| | |2(Dll4)|
15.173|8|25|11|15q21.1|FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1|C|Fibrillin-1||134797|A, Fd|||Marfan syndrome, 154700 (3);|Ectopia lentis, familial, 129600 (3); MASS syndrome, 604308 (3); Weill-Marchesani syndrome 2, dominant, 608328 (3); Aortic aneurysm, ascending,|and dissection (3); Stiff skin syndrome, 184900 (3); Acromicric dysplasia, 102370 (3); Geleophysic dysplasia 2, 614185 (3)|2(Fbn1)|
15.174|1|27|04|15q21.1|NMES1|P|Normal mucosa of esophagus-specific gene 1||608409|R|||| | ||
15.175|8|8|13|15q21.1|SLC24A5, NCKX5, SHEP4, OCA6|P|Solute carrier family 24 (sodium/potassium/calcium exchanger),|member 5|609802|REc, R|||[Skin/hair/eye pigmentation 4, fair/dark skin], 113750 (3);|Albinism, oculocutaneous, type VI, 113750 (3) | ||
15.176|9|12|01|15q21.1|SLC30A4, ZNT4|C|Solute carrier family 30 (zinc transporter), member 4||602095|A, REc, H|||| | |2(lm, Slc30a4)|
15.177|4|27|12|15q21.1|SPG11, KIAA1840, FLJ21439|C|Spastascin||610844|Fd, R|||Spastic paraplegia 11, autosomal recessive, 604360 (3)| | ||
15.178|5|7|01|15q21.1|CRI1, C15orf3, EID1|P|CREBBP/EP300 inhibitory protein 1||605894|R|||| | ||
15.179|10|20|99|15q21.3|ONECUT1, HNF6A, HNF6|P|One cut domain, family member 1 (hepatocyte nuclear factor 6-alpha)||604164|A|||| | ||
15.180|4|17|01|15q21.2|TMOD2|P|Tropomodulin 2, neuronal||602928|R|||| | |9(Tmod2)|
15.181|4|17|01|15q21.2|TMOD3|C|Tropomodulin 3||605112|R, REc|||| | |9(Tmod3)|
15.182|4|27|12|15q21.2|AP4E1, SPG51, CPSQ4|P|Adaptor-related protein complex 4, epsilon-1 subunit||607244|REc|||Spastic paraplegia 51, autosomal recessive, 613744 (3)| | ||
15.183|8|29|08|15q21.2|DMXL2, RC3, KIAA0856|P|DMX-like 2||612186|R, REc|||| | ||
15.184|10|2|06|15q21.2|GLDN, CRGL2|P|Gliomedin||608603|REc|||| | ||
15.185|8|28|02|15q21.2|SLC27A2, FACVL1, VLACS|P|Solute carrier family 27 (fatty acid transporter), member 2|(fatty acid CoA ligase, very long-chain 1)|603247|A|||| | ||
15.186|7|11|03|15q21.2|GABPB, BABPB2, GABPB1, E4TF1B, NRF2B1|C|GA-binding protein transcription factor, beta subunit||600610|A|||| | ||
15.187|1|29|01|15q21.1|TRIP15, SGN2, COPS2|P|Thyroid hormone receptor interactor-15||604508|REc|||| | |2(Cops2)|
15.188|9|16|12|15q21.2|USP8, HUMORF8|P|Ubiquitin-specific protease 8||603158|REc|||| | ||
15.189|1|11|07|15q21.3|CGNL1, FLJ14957, KIAA1749|C|Cingulin-like 1||607856|REc, REn|||| | ||
15.190|1|9|14|15q21.3|ADAM10, MADM, RAK, AD18|P|A disintegrin and metalloprotease domain 10||602192|R, REc|||Reticulate acropigmentation of Kitamura, 615537 (3);|{Alzheimer disease 18, susceptibility to}, 615590 (3) | ||
15.191|4|21|10|15q22.2|C2CD4B, NLF2|P|C2 calcium-dependent domain containing 4B||610344|REc|||| | ||
15.192|4|10|02|15q22.2|GCNT3|C|Glucosaminyl (N-acetyl) transferase 3, mucin-type||606836|Psh, R, A|||| | ||
15.193|7|1|11|15q21.3|LIPC, HL, LIPH, HDLCQ12|C|Lipase, hepatic||151670|REa, A|||[High density lipoprotein cholesterol level QTL 12], 612797 (3);|{Diabetes mellitus, noninsulin-dependent}, 125853 (3); Hepatic lipase deficiency, 614025 (3)| |9(Hl)|
15.194|2|16|07|15q21.3|MNS1, FLJ11222|P|Meiosis-specific nuclear structural protein 1||610766|REc|||| | ||
15.195|3|6|07|15q22.2|NARG2|C|NMDA receptor-regulated 2||610835|REc, H|pseudogenes on chr.4 and chr.3||| | |9(narg2)|
15.196|4|21|10|15q22.2|C2CD4A, NLF1|P|C2 calcium-dependent domain containing 4A||610343|REc|||| | ||
15.197|3|4|10|15q21.3|PRTG|P|Protogenin, chicken, homolog of||613261|REc, H|||| | |9(Prtg)|
15.198|3|23|09|15q21.3|RFX7, RFXDC2|P|Regulatory factor X, 7||612660|REc|||| | ||
15.199|3|4|10|15q21.3|RSL24D1, RLP24|P|Ribosomal protein L24 domain-containing protein 1||613262|REc|||| | ||
15.200|2|18|08|15q21.2|SCG3|P|Secretogranin III||611796|REc|||| | ||
15.201|4|19|12|15q21.3|UNC13C|P|Unc13, C. elegans, homolog of, C||614568|REc|||| | ||
15.202|9|18|12|15q21.3|GUP, GCOM1, MYOZAP|P|GRINL1A complex locus upstream gene||614071|REc|||| | ||
15.203|2|19|10|15q21.3|WDR72, AI2A3|P|WD repeat-containing protein 72||613214|REc|||Amelogenesis imperfecta, hypomaturation type, IIA3, 613211 (3)| | ||
15.204|1|30|01|15q22.31|RAB11A|P|Ras family, member RAB11A||605570|R, A|||| | ||
15.205|3|17|06|15q21.3|AQP9|P|Aquaporin 9||602914|R, REc|||| | ||
15.206|12|21|10|15q22.2|CA12|P|Carbonic anhydrase XII||603263|A|||Hyperchlorhidrosis, isolated, 143860 (3)| | ||
15.207|5|26|05|15q22.31|CILP|P|Cartilage intermediate layer protein||603489|A|||{Lumbar disc disease, susceptibility to}, 603932 (3)| | ||
15.208|12|11|02|15q22.31|DPP8|P|Dipeptidyl peptidase 8||606819|A|||| | ||
15.209|4|21|10|15q24.1|GOLGA6, GLP|P|Golgi autoantigen, golgin subfamily A, 6||610288|REc, A|||| | ||
15.210|12|6|07|15q24.1|LOXL1, LOXL|C|Lysyl oxidase-like 1||153456|A, H, REc|||{Exfoliation syndrome, susceptibility to}, 177650 (3)| | |9(Loxl1)|
15.211|4|18|02|15q23|PIAS1, DDXBP1, GBP|P|protein inhibitor of activated STAT, 1||603566|A|||| | ||
15.212|2|12|13|15q23|PKM2, PK3, PKM2, THBP1|C|Pyruvate kinase, muscle, 2||179050|S, D, A|||| | |9(Pk3)|
15.213|9|23|97|15q24.1|PML, MYL|C|Promyelocytic leukemia, inducer of||102578|Ch, RE|fused with RARA in APL||Leukemia, acute promyelocytic, PML/RARA type (3)| | |9(Pml)|
15.214|10|11|10|15q23|SPESP1|P|Sperm equatorial segment protein 1||609399|REc|||| | ||
15.215|1|31|13|15q22.31|SLC24A1, NCKX1, CSNB1D|P|Solute carrier family 24 (sodium/potassium/calcium exchanger),|member 1|603617|A, R|||Night blindness, congenital stationary (complete), 1D, autosomal|recessive, 613830 (3) | ||
15.216|12|17|95|15q15.1|SRP14|P|Signal recognition particle 14kD (homologous Alu RNA-binding protein)||600708|REa|||| | ||
15.217|12|7|03|15q24.1|STOML1, STORP|P|Stomatin-like protein 1||608326|A, REc|||| | ||
15.218|2|11|96|15q23|TLE3, ESG|C|Transducin-like enhancer of split 3, homolog of Drosophila a E(spl)||600190|REa, Psh, A|||| | ||
15.219|5|11|00|15q23|MYO9A|P|Myosin IXa||604875|R|||| | ||
15.220|3|3|09|15q22-q23|USH1H|P|Usher syndrome, type 1H||612632|Fd|max lod at D15S980||Usher syndrome, type 1H (2)| | ||
15.221|5|26|98|15q24.1|MPI, PMI1, CDG1B|C|Mannosephosphate isomerase (phosphomannose isomerase 1)||154550|S|||Congenital disorder of glycosylation, type Ib, 602579 (3)| | |9(Mpi1)|
15.222|1|9|95|15q25.2-q25.3|NMB|C|Neuromedin B||162340|REa, Psh|||| | ||
15.223|6|13|12|15q22.31|FBXL22, FBL22|P|F-box and leucine-rich repeat protein 22||609088|REc|||| | |9(Fbxl22)|
15.224|2|16|04|15q22.2|LACTB|P|Lactamase, beta||608440|R, REc|||| | |9(Lactb)|
15.225|1|11|07|15q22.31|PAF, OEATC1, KIAA0101|C|PCNA-associated factor, 15kD||610696|Psh, REc|||| | ||
15.226|9|18|12|15q21.3|POLR2M, GDOWN, GRINL1A|P|Polymerase II, RNA, subunit M||606485|A|||| | |9(Grinl1a)|
15.227|9|9|13|15q22.2|TPM1, CMH3, CMD1Y , LVNC9|C|Tropomyosin 1, alpha||191010|Fd, R|||Cardiomyopathy, familial hypertrophic, 3, 115196 (3); Cardiomyopathy,|dilated, 1Y, 611878 (3); Left ventricular noncompaction 9, 611878 (3) | |9(Tpm1)|
15.228|9|16|12|15q22.2|VPS13C, KIAA1421|P|Vacuolar protein sorting 13, yeast, homolog of, C||608879|REc|||| | ||
15.229|7|19|12|15q22.1-q22.2|RNF111|P|Ring finger protein 111||605840|REc|||| | ||
15.230|7|9|06|15q22.31|CSNK1G1|P|Casein kinase I, gamma-1||606274|A|||| | ||
15.231|6|10|09|15q22.2|APH1B|P|Anterior pharynx defective 1, C. elegans, homolog of, B||607630|R, REc|||| | ||
15.232|6|22|12|15q22.2|BNIP2, NIP2|P|BCL2/adenovirus E1B 19kD protein-interacting protein 2||603292|REc|||| | ||
15.233|10|2|12|15q22.2|GTF2A2, TF2A2|P|General transcription factor IIA, gamma subunit||600519|REc|pseudogenes on chr. 1, 8, 9||| | ||
15.234|6|10|08|15q22.2|RPS27L|P|Ribosomal protein S27-like||612055|REc|||| | ||
15.235|8|1|12|15q24.1|SEMA7A, SEMAL, SEMAK1, CDW108, JMH|C|Semaphorin 7A||607961|A|||[Blood group, John-Milton-Hagen system], 614745 (3)| | |9(Sema7a)|
15.236|4|18|05|15q22.31|SNX1, SNX1A|P|Sorting nexin 1||601272|R, REc|||| | ||
15.237|1|24|07|15q22.31|TIPIN|P|Timeless-interacting protein||610716|REc, H|||| | |9(Tipin)|
15.238|4|18|05|15q22.31|USP3|P|Ubiquitin-specific protease 3||604728|A|||| | ||
15.239|3|21|06|15q22.31|ZWILCH|P|Zwilch, Drosophila, homolog of||609984|R, REc|||| | ||
15.240|2|15|02|15q23|ANP32A, PHAP1|P|Acidic (leucine-rich) nuclear phosphoprotein 32 family, member A||600832|A|||| | ||
15.241|5|30|01|15q24.1|BBS4|C|BBS4 gene||600374|Fd, LD|||Bardet-Biedl syndrome 4, 209900 (3)| | ||
15.242|7|31|97|15q24.1|NEO1, NGN|C|Neogenin, chicken, homolog of, 1||601907|A|||| | ||
15.243|10|20|99|15q22.31|PUNC|C|Putative neuronal cell adhesion molecule||604184|A, REa, H|||| | |9(Punc)|
15.244|12|23|05|15q24.1|UBL7|P|Ubiquitin-like 7||609748|REc|||| | ||
15.245|5|25|13|15q22.31|DENND4A|P|DENN/MADD domain containing 4A||600382|REc|||| | ||
15.246|8|25|11|15q22.31|DIS3L, DIS3L1, KIAA1955|P|Dis3 mitotic control, S. cerevisiae, homolog-like||614183|REc|||| | ||
15.247|1|7|09|15q23|IQCH, NYDSP5|P|IQ motif-containing protein H||612523|REc|||| | ||
15.248|8|2|13|15q22.31|KBTBD13, NEM6|P|Kelch repeat and BTB/POZ domains-containing protein 13||613727|REc|||Nemaline myopathy 6, autosomal dominant, 609273 (3)| | ||
15.249|12|24|08|15q22.31|MEGF11, KIAA1781|P|Multiple epidermal growth factor-like domains 11||612454|REc|||| | ||
15.250|12|15|12|15q22.31|MTFMT, COXPD15|P|Mitochondrial methionyl-tRNA formyltransferase||611766|R, REc|||Combined oxidative phosphorylation deficiency 15, 614947 (3)| | ||
15.251|5|25|13|15q22.31|OAZ2|P|Ornithine decarboxylase antizyme 2||604152|REc|||| | ||
15.252|3|22|07|15q22.31|PDCD7|P|Programmed cell death 7||608138|R, REc|||| | ||
15.253|5|21|07|15q22.31|PIF1, PIF|P|Pif1, S. cerevisiae, homolog of||610953|REc|||| | ||
15.254|6|24|08|15q22.31|RNU5A, RNU5|P|RNA, U5A small nuclear||180691|REc|||| | ||
15.255|9|6|12|15q22.33|SMAD3, MADH3, LDS3|P|Mothers against decapentaplegic, Drosophila, homolog of, 3||603109|REa, REc|||Loeys-Dietz syndrome, type 3, 613795 (3)| | ||
15.256|10|2|12|15q22.31|SNAPC5, SNAP19|P|Small nuclear RNA-activating protein complex, polypeptide 5||605979|REc|||| | ||
15.257|9|8|11|15q22.31|TRIP4, ASC1|P|Thyroid hormone receptor interactor 4||604501|REc|||| | ||
15.258|2|17|09|15q22.32|STQTL16|P|Stature quantitative trait locus 16||612579|Fd|associated with rs8038652||{Stature QTL 16} (2)| | ||
15.259|12|12|12|15q22-q23|AAGAB, p34, PPKP1A, PPKP1, KPPP1|P|Alpha- and gamma-adaptin-binding protein||614888|REc, Fd|||Keratoderma, palmoplantar, punctate type IA, 148600 (3)| | ||
15.260|10|13|09|15q23|CORO2B, CLIPINC|P|Coronin 2B||605002|R, REc|||| | ||
15.261|9|9|08|15q24.2|FBXO22, FBX22|P|F-box only protein 22||609096|REc|||| | |9(Fbxo22)|
15.262|8|18|08|15q23|GLCE, HSEPI, KIAA0836|P|Glucuronic acid epimerase||612134|R, REc|||| | ||
15.263|4|6|00|15q23|ITGA11|C|Integrin, alpha-11||604789|A, REa|||| | ||
15.264|3|2|06|15q23|KIF23, KNSL5, MKLP1|P|Kinesin family member 23||605064|R, REc|||| | ||
15.265|6|10|09|15q23|LBXCOR1, CORL1|P|LBX1 corepressor 1, mouse, homolog of||611273|REc|||| | ||
15.266|6|10|09|15q23|MAP2K5, PRKMK5, MEK5, MAPKK5|P|Mitogen-activated protein kinase kinase 5||602520|REc|||| | ||
15.267|1|24|13|15q23|NOX5|C|NADPH oxidase 5||606572|REc|||| | ||
15.268|7|9|07|15q23|NR2E3, PNR, ESCS, RP37|C|Nuclear receptor subfamily 2, group E, member 3||604485|A, R|near BBS4||Enhanced S-cone syndrome, 268100 (3); Retinitis pigmentosa 37,|611131 (3) | |9(rd7)|
15.269|4|19|12|15q23|PAQR5, MPRG|P|Progestin and ADIPOQ receptor family, member 5||607781|REc|||| | ||
15.270|6|10|98|15q24.3|RCN2, ERC55|C|Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic|reticulum calcium-binding protein, 55kD)|602584|R, A|||| | ||
15.271|6|24|08|15q23|RNU6-1, RNU6A, RNU6|P|RNA, U6 small nuclear 1||180692|REc|||| | ||
15.272|2|25|11|15q24.2|SCAMP5|P|Secretory carrier membrane protein 5||613766|REc|||| | ||
15.273|6|13|12|15q23|SENP8, NEDP1, DEN1|P|Sentrin-specific protease family, member 8||608659|REc|||| | ||
15.274|1|20|09|15q23|THAP10|P|THAP domain-containing protein 10||612538|REc|||| | ||
15.275|2|21|12|15q23|THSD4, ADAMTSL6|P|Thrombospondin type-1 domain-containing 4||614476|REc|||| | |9(Thsd4)|
15.276|10|13|09|15q24.2|UBE2Q2, LOC92912|P|Ubiquitin-conjugating enzyme E2Q 2||612501|REc|||| | ||
15.277|12|1|11|15q25.1|ACSBG1, BG, BG1, KIAA0631|C|Acyl-CoAsynthetase, bubble gum family, member 1||614362|R, REc|||| | ||
15.278|3|23|09|15q24.1|CD276, B7H3|P|CD276 molecule||605715|REc|||| | |9(B7h3)|
15.279|5|7|02|15q23|HEXA, TSD|C|Hexosaminidase A, alpha polypeptide||606869|S, D, A|on 15q+ in APL||Tay-Sachs disease, 272800 (3); GM2-gangliosidosis, several forms,|272800 (3); [Hex A pseudodeficiency], 272800 (3) | |9(Hexa)|
15.280|6|9|98|15q24.1|ISLR|P|Immunoglobulin superfamily containing leucine-rich repeat||602059|A|||| | ||
15.281|8|14|92|15q24.1|CSK|P|c-src tyrosine kinase||124095|A|||| | ||
15.282|8|25|03|15q24.2-q24.3|ETFA, GA2, MADD|C|Electron transfer flavoprotein, alpha polypeptide||608053|REa, A|||Glutaric acidemia IIA, 231680 (3)| | |13(Etfa)|
15.283|4|30|91|15q25.1|FAH|C|Fumarylacetoacetase||613871|A, REa|||Tyrosinemia, type I, 276700 (3)| | ||
15.284|10|29|09|15q23-q26.3|GLM4|P|Glioma susceptibility 4||607248|Fd|max lod at D15S130||{Glioma susceptibility 4} (2)| | ||
15.285|12|29|09|15q26.3|ADAMTS17|P|A disintegrin-like and metalloproteinase with thrombospondin type|1 motif, 17|607511|REc|||Weill-Marchesani-like syndrome, 613195 (3)| | ||
15.286|12|24|08|15q24.1|ARID3B, DRIL2, BDP|P|AT-rich interactive domain-containing protein 3B||612457|REc|||| | ||
15.287|3|1|01|15q24.1|ARIH1, ARI, UBCH7BP|C|Ariadne, Drosophila, homolog of, 1||605624|R, A|||| | ||
15.288|6|20|01|15q25.1|ARNT2|C|Aryl hydrocarbon receptor nuclear translocator 2||606036|R|||| | ||
15.289|8|2|13|15q23|CELF6, BRUNOL6|P|CUGbp- and ELAV-like family, member 6||612681|REc|||| | ||
15.290|8|4|97|15q25.1|CRABP1, RBP5|C|Cellular retinoic acid-binding protein-1||180230|REa, Ch, A|distal to APL breakpoint||| | |9(Rbp5)|
15.291|7|5|92|15q25.1|CHRNB4|C|Cholinergic receptor, neuronal nicotinic, beta polypeptide-4||118509|REa, H, A, REn|||| | |9(Acrb4)|
15.292|10|17|12|15q25.1|CIB2, KIP2|C|Calcium- and integrin-ginding protein 2||605564|R, A|||Deafness, autosomal recessive 48, 609439 (3); Usher syndrome,|type IJ, 614869 (3) | ||
15.293|6|15|99|15q24.1|CLK3|C|CDC-like kinase 3||602990|Psh, A|||| | ||
15.294|9|7|10|15q24|DEL15q24, CHR15DELq24|P|Chromosome 15q24 deletion syndrome||613406|Ch|contiguous gene deletion syndrome||Chromosome 15q24 deletion syndrome (4)| | ||
15.295|11|11|98|15q24|ENFL2|P|Epilepsy, nocturnal frontal lobe, type 2||603204|Fd|some ENFL not on 20q or 15q||Epilepsy, nocturnal frontal lobe, type 2 (2)| | ||
15.296|1|8|01|15q24.3|HMG20A|C|High mobility group protein 20A||605534|REc, A, R|||| | ||
15.297|9|2|09|15q24.2|IMP3, MRPS4, BRMS2|P|Imp3, S. cerevisiae, homolog of||612980|REc|||| | ||
15.298|1|27|04|15q25.1|KIAA1199|P|KIAA1199 gene||608366|REc|||?Deafness, nonsyndromic (3)| | ||
15.299|12|23|05|15q24.3|LRRN6A, LERN1, LINGO1|P|Leucine-rich repeat protein, neuronal, 6A||609791|REc, A|||| | ||
15.300|6|6|03|15q25.1|MORF4L1, MRG15|P|Mortality factor 4-like 1||607303|A|||| | ||
15.301|6|11|98|15q24|MRST|P|Mental retardation, severe, with spasticity and tapetoretinal|degeneration|602685|Fd|||Mental retardation, severe, with spasticity and tapetoretinal|degeneration (2) | ||
15.302|2|18|08|15q24.3|SCAPER, KIAA1454|C|S-phase cyclin A-associated protein in the endoplasmic reticulum||611611|R, REc|||| | ||
15.303|8|9|99|15q25.2|SH3GL3|P|SH3-domain GRB2-like 3||603362|Psh, A|||| | ||
15.304|5|22|03|15q24.2|SIN3A|P|Sin3, yeast, homolog of, A||607776|A|||| | ||
15.305|1|6|09|15q23|UACA, NUCLING|P|Uveal autoantigen with coiled-coil domains and ankyrin repeats||612516|REc|||| | ||
15.306|6|13|02|15q25.3|AKAP13, HT31, LBC, BRX|C|A-kinase anchor protein 13||604686|A|||| | ||
15.307|12|3|08|15q24-q25|CILD8|P|Ciliary dyskinesia, primary, 8||612274|Fd|max lod at D15S154||Ciliary dyskinesia, primary, 8 (2)| | ||
15.308|1|9|94|15q25.1|CTSH|P|Cathepsin H||116820|REa, A|||| | |9(Ctsh)|
15.309|12|2|09|15q24.1|HCN4, SSS2|P|Hyperpolarization-activated cyclic nucleotide-gated potassium channel|4|605206|A|||Sick sinus syndrome 2, 163800 (3); Brugada syndrome 8, 613123 (3)| | ||
15.310|3|5|08|15q25.3|MRPL46|P|Mitochondrial ribosomal protein L46||611851|R, REc|||| | ||
15.311|5|3|04|15q24.3|PSTPIP1, PSTPIP, CD2BP1, PAPAS|C|Proline-serine-threonine phosphatase-interacting protein 1||606347|R, Fd|||Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416|(3) | ||
15.312|12|27|01|15q25.2|TM6SF1|P|Transmembrane 6 superfamily, member 1||606562|REc|||| | ||
15.313|2|26|08|15q24.1|ADPGK|P|ADP-dependent glucokinase||611861|R, REc|||| | |9(Adpgk)|
15.314|4|28|10|15q24.1|CYP1A1, CYP1|C|Cytochrome P450, subfamily I, aromatic compound-inducible,|polypeptide 1|108330|S, REa, H|head-to-head with CYP1A2||| | |9(Cyp1a1)|
15.315|4|28|10|15q24.1|CYP1A2|C|Cytochrome P450, subfamily I, aromatic compound-inducible,|polypeptide 2|124060|REa, H, REc|23.3kb from CYP1A1||| | |9(Cyp1a2)|
15.316|10|7|13|15q24.1|CYP11A1, P450SCC|C|Cytochrome P450, subfamily XIA, polypeptide 1|(cholesterol side chain cleavage enzyme)|118485|REa, H, A, Fd|||Adrenal insufficiency, congenital, with 46XY sex reversal, partial|or complete, 613743 (3) | |9(Cyp11a)|
15.317|10|2|12|15q24.1|EDC3, YJDC|P|Enhancer of mRNA decapping 3, S. cerevisiae, homolog of||609842|REc|||| | ||
15.318|9|6|11|15q24.1|ISLR2, LINX, KIAA1464|C|Immunoglobulin superfamily containing leucine-rich repeat 2||614179|REc, Psh|||| | ||
15.319|1|29|13|15q24.1|NPTN, SDFR1, GP55, NP55, GP65, NP65|C|Neuroplastin||612820|R, REc|||| | ||
15.320|4|17|13|15q24.1|NPTNIT1|P|NPTN intronic transcript 1, noncoding||615176|REc|||| | ||
15.321|4|17|07|15q24.2|NRG4, HRG4|P|Neuregulin 4||610894|R, REc|||| | ||
15.322|11|30|12|15q24.1|STRA6, MCOPS9, MCOPCB8|P|Stimulated by retinoic acid 6, mouse, homolog of||610745|REc, R|||Microphthalmia, syndromic 9, 601186 (3); Microphthalmia,|isolated, with coloboma 8, 601186 (3) | ||
15.323|9|29|10|15q24.1|ULK3|P|UNC51-like kinase 3||613472|REc|||| | ||
15.324|11|18|11|15q24.1-q26.1|MRT27|P|Mental retardation, autosomal recessive 27||614340|Fd|between rs936227 and rs12906289||Mental retardation, autosomal recessive 27 (2)| | ||
15.325|4|27|12|15q24.2|CSPG4, MCSPG, MSK16, NG2|P|Chondroitin sulfate proteoglycan||601172|REa, REc|||| | ||
15.326|9|16|12|15q24.2|NEIL1, NEI1, FPG1|P|Endonuclease VIII-like 1||608844|REc|||| | ||
15.327|3|20|06|15q24.2|PPCDC|P|Phosphopantothenoylcysteine decarboxylase||609854|REc|||| | ||
15.328|5|25|13|15q24.2|PTPN9|P|Protein-tyrosine phosphatase, nonreceptor-type, 9||600768|REc|||| | ||
15.329|6|9|98|15q25.1|BCL2A1|P|BCL2-related protein A1||601056|REa, A|||| | |9(Bcl2a1)|
15.330|7|9|06|15q25.2|HOMER2, HOMER2B, HOMER2A|P|Homer, homolog 2 (Drosophila)||604799|R, REc|||| | ||
15.331|9|26|11|15q24.3|PEAK1, KIAA2002|P|Pseudopodium-enriched atypical kinase 1||614248|REc|||| | ||
15.332|12|2|09|15q24.3|TSPAN3|P|Tetraspanin 3||613134|REc|||| | ||
15.333|6|14|99|15q24.2|COX5A|P|Cytochrome C oxidase, subunit Va||603773|A, R|pseudogene on 14q22||| | ||
15.334|10|26|11|15q25|DEL15q25, C15DELq25|P|Chromosome 15q25 deletion syndrome||614294|Ch|chr15:82,889,423-83,552,890, NCBI36||Chromosome 15q25 deletion syndrome (4)| | ||
15.335|6|2|98|15q26.1|MAN2A2, MANA2X|P|Manosidase, alpha-, type II, isozyme X||600988|A|||| | ||
15.336|6|14|99|15q26.1|MFGE8|P|Milk fat globule-EGF factor 8||602281|A|||| | ||
15.337|4|23|08|15q25.3|MRPS11|P|Mitochondrial ribosomal protein S11||611977|R, REc|||| | ||
15.338|10|19|97|15q25.3|NTRK3, TRKC|C|Neurotrophic tyrosine kinase, receptor, type 3||191316|Psh, A|||| | ||
15.339|12|27|10|15q26.1|POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS|P|Polymerase (DNA directed), gamma||174763|A|PEO also digenic with C10orf2||Progressive external ophthalmoplegia, autosomal recessive, 258450|(3); Progressive external ophthalmoplegia, autosomal dominant, 157640 (3); Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3); Mitochondrial|DNA depletion syndrome 4A (Alpers type), 203700 (3); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)|7(Polg)|
15.340|11|6|00|15q26.1|RHCG, RHGK|P|Rhesus blood group-associated kidney homolog||605381|A|||| | ||
15.341|12|16|93|15q26.1|ANPEP, PEPN, CD13|C|Alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M,|microsomal aminopeptidase, CD13, p150)|151530|REa, A|||| | ||
15.342|11|13|01|15q25-q26|DFNA30|P|Deafness, autosomal dominant 30||606451|Fd|||Deafness, autosomal dominant 30 (2)| | ||
15.343|8|21|07|15q26.1|FANCI, KIAA1794|P|FANCI gene||611360|REc|||Fanconi anemia, complementation group I, 609053 (3)| | ||
15.344|12|23|02|15q26.1|FURIN, PACE, FUR, PCSK3|C|Furin (paired basic amino acid cleaving enzyme)||136950|RE|less than 1.1kb 5' to FES||| | |7(Fur, Pcsk3)|
15.345|4|30|09|15q26.3|IGF1R|C|Insulin-like growth factor-1 receptor||147370|REa, A, D|||Insulin-like growth factor I, resistance to, 270450 (3)| | |7(Igf1r)|
15.346|8|30|01|15q25.3|SLC28A1, CNT1|P|Solute carrier family 28 (sodium-coupled nucleoside transporter),|member 1|606207|A|||| | ||
15.347|5|12|08|15q26.1|UNC45A, SMAP1, GCUNC45|P|UNC45, C. elegans, homolog of, A||611219|REc, R, H|||| | |7(Unc45a)|
15.348|3|22|13|15q25.1|ADAMTS7|P|A disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 7|605009|REa, REc|||| | ||
15.349|12|7|12|15q25.1|AGPHD1|P|Aminoglycoside phosphotransferase domain-containing protein 1||614681|REc|||| | ||
15.350|6|7|04|15q25.2|BNC1|C|Basonuclin||601930|Psh, REc|||| | ||
15.351|5|28|09|15q25.1|CHRNA3, LNCR2, PAOD2|C|Cholinergic receptor, neuronal nicotinic, alpha polypeptide-3||118503|REa, H, A, REn|||{Lung cancer susceptibility 2}, 612052 (3)| | |9(Acra3)|
15.352|4|27|12|15q25.1|CHRNA5, LNCR2|C|Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5||118505|REa, H, Fd, A|||{Lung cancer susceptibility 2}, 612052 (3); {Nicotine dependence,|susceptibility to}, 612052 (3) | |9(Acra5)|
15.353|10|16|09|15q25.1|IREB2|P|Iron-responsive element-binding protein-2||147582|REa, REc|||| | ||
15.354|12|10|13|15q25.1|MESDC1|P|Mesoderm development candidate 1||615466|R, REc, H|||| | |7(Mesdc1)|
15.355|5|4|12|15q25.1|MIR184, MIRN184, KTCNCT, EDICT|P|Micro RNA 184||613146|REc|||EDICT syndrome, 614303 (3)| | |9(Mir184)|
15.356|5|25|13|15q25.1|MTHFS|P|5,10-methenyltetrahydrofolate synthetase||604197|REc|||| | ||
15.357|12|17|07|15q25.1|PSMA4, PSC9, HC9|P|Proteasome subunit, alpha-type, 4||176846|R, REc|||| | ||
15.358|1|16|07|15q25.1|ZFAND6, ZA20D3, AWP1|P|Zinc finger AN1 domain-containing protein 6||610183|REc|||| | ||
15.359|4|9|96|15q25.1|IDH3A|P|Isocitrate dehydrogenase 3 (NAD+) alpha||601149|A|||| | ||
15.360|11|11|12|15q25.1-q26.1|POROK4, DSAP2|P|Porokeratosis 4, disseminated superficial actinic||607728|Fd|between D15S1023 and D15S1030||Porokeratosis 4, disseminated superficial actinic (2)| | ||
15.361|5|27|09|15q25.2|ADAMTSL3, KIAA1233|P|ADAMTS-like protein 3||609199|REc, H|||| | |7(Adamtsl3)|
15.362|5|25|13|15q25.2|CPEB1|P|Cytoplasmic polyadenylation element-binding protein 1||607342|REc|||| | ||
15.363|4|2|12|15q25.2|FAM103A1, RAM|P|Family with sequence similarity 103, member A1||614547|REc|||| | ||
15.364|8|20|07|15q25.2|MEX3B, RKHD3|P|Mex-3, C. elegans, homolog of, B||611008|REc|||| | ||
15.365|5|24|13|15q25.2|SCAND2|P|SCAN domain-containing 2||610417|REc, A|||| | ||
15.366|3|31|09|15q25.2|SCARNA15, ACA45|P|Small cajal body-specific RNA 15||612675|REc|||| | ||
15.367|10|13|09|15q25.2|WHDC1, WHAMM, KIAA1971|P|Was protein homology region 2 domain-containing protein 1||612393|REc|||| | ||
15.368|11|19|13|15q25.3|AGBL1, CCP4, FECD8|C|ATP/GTP-binding protein-like 1||615496|REc, REn|||Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)| | ||
15.369|11|22|10|15q25.3|ZNF592, KIAA0211, SCAR5, CAMOS|P|Zinc finger protein 592||613624|Fd, REc|||Spinocerebellar ataxia, autosomal recessive 5, 606937 (3)| | ||
15.370|2|21|06|15q25.3-q26.1|CHNG3, RTSH|P|Hypothyroidism, congenital, nongoitrous, 3||609893|Fd|max lod at D15S655||Hypothyroidism, congenital, nongoitrous, 3 (2)| | ||
15.371|12|18|01|15q26.1|CIB, KIP|P|Calcium- and integrin-binding protein (kinase-interacting protein)||602293|Psh, R, A|||| | ||
15.372|5|21|07|15q25.3|PDE8A|P|Phosphodiesterase 8A||602972|REc|||| | ||
15.373|6|7|04|15q25.3-q26.2|MDD2|P|Major depressive disorder 2||608691|Fd|||Major depressive disorder 2, 608516 (2)| | ||
15.374|3|15|13|15q26.3|ALDH1A3, ALDH6, MCOP8|P|Aldehyde dehydrogenase 1 family, member A3||600463|A|||Microphthalmia, isolated 8, 615113 (3)| | ||
15.375|8|19|13|15q26.1|CHD2, EEOC|P|Chromodomain helicase DNA binding protein-2||602119|R|||Epileptic encephalopathy, childhood-onset, 615369 (3)| | ||
15.376|12|4|90|15q14|CHRM5|P|Cholinergic receptor, muscarinic, 5||118496|A, REa|||| | ||
15.377|12|9|98|15q26|IDDM3|C|Insulin-dependent diabetes mellitus-3||600318|Fd|||{Diabetes mellitus, insulin-dependent, 3} (2)| | ||
15.378|2|6|01|15q26.1|IQGAP1, SAR1|C|RASGAP-like with IQ motifs (sar1, S. pombe, homolog of)||603379|REa, REc|amplified in gastric cancer||| | ||
15.379|2|7|01|15q26.1|ISG20, HEM45|P|Interferon-stimulated gene, 20kD||604533|A|||| | ||
15.380|1|3|12|15q26.3|LINS1, WINS1, FLJ10583|P|Lines, Drosophila, homolog of, 1||610350|REc|||| | ||
15.381|12|3|03|15q26.3|MEF2A, ADCAD1|C|MADS box transcription enhancer factor 2, polypeptide A (myocyte|enhancer factor 2A)|600660|A, REa|||{Coronary artery disease, autosomal dominant, 1}, 608320 (3)| | |7(Mef2a)|
15.382|4|25|93|15q26.3|PCSK6, PACE4, SPC4|C|Proprotein convertase subtilisin/kexin type 6||167405|REa, A|||| | |7(Pcsk6)|
15.383|4|16|11|15q26.1|PLIN1, PLIN, FPLD4|C|Perilipin 1||170290|A, H|||Lipodystrophy, familial partial, type 4, 613877 (3)| | |7(Plin)|
15.384|4|2|09|15q26.1|RLBP1|P|Retinaldehyde-binding protein-1, cellular||180090|REa, A|||Fundus albipunctatus, 136880 (3); Retinitis punctata albescens,|136880 (3); Newfoundland rod-cone dystrophy, 607476 (3); Bothnia retinal dystrophy, 607475 (3)| |7(Rlbp1)|
15.385|12|4|08|15q26.1|SLCO3A1, OATPD, OATP3A1|C|Solute carrier organic anion transporter family, member 3A1||612435|R, REn|||| | ||
15.386|6|28|02|15q25.1|STARD5|P|Start domain-containing protein 5||607050|REc|||| | ||
15.387|7|13|98|15q26.1|STX|P|Sialyltransferase X||602546|A|||| | ||
15.388|3|19|09|15q26-qter|DEL15q26qter, C15DELq26qter|P|Chromosome 15q26-qter deletion syndrome||612626|Ch|contiguous gene deletion syndrome||Chromosome 15q26-qter deletion syndrome (4)| | ||
15.389|10|25|12|15q26-qter|LVSKS|P|Levy-Shanske syndrome (tetrasomy 15q26)||614846|Ch|||Levy-Shanske syndrome (4)| | ||
15.390|8|29|08|15q26.1|ABHD2, LABH2|P|Abhydrolase domain-containing 2||612196|REc|||| | |16(Abhd2)|
15.391|7|6|10|15q26.1|ACAN, AGC1, CSPG1, MSK16, SEDK|C|Aggrecan (chondroitin sulfate proteoglycan-1, large aggregating|proteoglycan, antigen identifies by monoclonal antibody A0122)|155760|S, A, Fd|||Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3);|Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3); Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 (3)| |7(Agc1)|
15.392|11|27|13|15q26.1|C15orf38, ARPIN|P|Chromosome 15 open reading frame 38||615543|REc|||| | ||
15.393|3|16|10|15q26.1|C15orf42, TRESLIN|P|Treslin||613298|REc|||| | ||
15.394|10|27|08|15q26.1|CRTC3, TORC3|P|CREB-regulated transcription coactivator 3||608986|R, REc|||| | ||
15.395|12|29|05|15q26.1|DIH1, HCD|P|Hernia, congenital diaphragmatic 1||142340|Ch|||Hernia, congenital diaphragmatic 1 (2)| | ||
15.396|7|13|93|15q26.1|FES|C|Oncogene FES, feline sarcoma virus||190030|S, A|||| | |7(Fes)|
15.397|12|14|10|15q26.1|IDH2, IDPM, D2HGA2|C|Isocitrate dehydrogenase, mitochondrial||147650|S, A|||D-2-hydroxyglutaric aciduria 2, 613657 (3)| | |7(Idh2)|
15.398|6|16|06|15q26.1|ISG20L1, AEN|P|Interferon-stimulated exonuclease gene 20kD-like 1||610177|R, REc|||| | ||
15.399|11|3|99|15q25.1|IL16, LCF|P|Interleukin 16||603035|Psh, A|||| | |7(Il16)|
15.400|8|25|11|15q26.1|KIF7, HLS2, ACLS, JBTS12|P|Kinesin family member 7||611254|REc|||Hydrolethalus syndrome 2, 614120 (3); Acrocallosal syndrome,|200990 (3); Joubert syndrome 12, 200990 (3) | ||
15.401|6|4|04|15q26.1|MESP2, SCDO2|P|Mesoderm posterior 2||605195|REc|||Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)| | ||
15.402|3|23|09|15q26.1|MIR9-3, MIRN9-3|P|Micro RNA 9-3||611188|REc|||| | ||
15.403|1|27|04|15q26.1|MMEDF|P|Macrocephaly with multiple epiphyseal dysplasia and distinctive facies||607131|Fd|?allelic to SEDK||Macrocephaly with multiple epiphyseal dysplasia and distinctive|facies (2) | ||
15.404|10|25|12|15q26.1|PEX11A|P|Peroxisome biogenesis factor 11A||603866|R, REc|||| | ||
15.405|5|29|10|15q26.1|PRC1|P|Protein regulating cytokinesis 1||603484|REc|||| | ||
15.406|8|12|03|15q26.1|RECQL3, RECQ2, BLM, BS|C|DNA helicase, RecQ-like 3||604610|M, LD|||Bloom syndrome, 210900 (3)| | ||Ellis (1992)
15.407|2|28|03|15q26.1|RGMA, RGMA|P|RGM domain family, member A (repulsive guidance molecule)||607362|REc|||| | |4(Ephb2)|
15.408|5|24|13|15q26.1|SV2B, KIAA0735|P|Synaptic vesicle glycoprotein 2B||185861|REc, R|||| | ||
15.409|7|8|10|15q26.1|VPS33B|P|Vacuolar protein sorting 33, yeast, homolog of, B||608552|R|||Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)| | ||
15.410|12|13|95|15q26.2|NR2F2, TFCOUP2, ARP1|P|Nuclear receptor subfamily 2, group F, member 2 (transcription factor|COUP 2)|107773|REa, A|||| | |7(Tcfcoup2)|
15.411|4|8|98|15q26.1-qter|OTSC1, OTS|P|Otosclerosis 1||166800|Fd|||Otosclerosis 1 (2)| | ||
15.412|5|3|11|15q26.2|SPATA8, SRG8|P|Spermatogenesis-associated protein 8||613948|REc|||| | ||
15.413|1|31|13|15q26.3|ASB7|P|Ankyrin repeat- and SOCS box-containing protein 7||615052|REc|||| | ||
15.414|7|9|13|15q26.3|CERS3, LASS3, ARCI9|C|Ceramide synthase 3||615276|REc, Fd|||Ichthyosis, congenital, autosomal recessive 9, 615023 (3)| | ||
15.415|2|24|11|15q26.3|CHSY1, KIAA0990, TPBS|P|Carbohydrate synthase 1||608183|REc, R|||Temtamy preaxial brachydactyly syndrome, 605282 (3)| | ||
15.416|4|27|07|15q26.3|LRRK1|P|Leucine-rich repeat kinase 1||610986|REc|||| | ||
15.417|11|9|05|15q26.3|SEPS1, SELS, VIMP, ADO15|P|Selenoprotein S||607918|REc|||| | ||
15.418|8|22|07|15q26.3|SNRPA1|C|Small nuclear ribonucleoprotein polypeptide A'||603521|R, Psh, A|||| | |7(Snrpa1)|
15.419|4|19|06|15q26.3|TM2D3, BLP2|P|TM2 domain-containing protein 3||610014|R, REc|||| | ||
15.420|4|2|01|15q21.3|ALDH1A2, RALDH2|P|Aldehyde dehydrogenase 1 family, member A2|(retinaldehyde dehydrogenase 2)|603687|R|||| | ||
15.421|1|30|01|15q21.2|ARPP19, ARPP16|P|cAMP-regulated phosphoprotein, 19kD||605487|R|||| | ||
15.422|1|31|01|15q14|AVEN|P|Cell death regulator AVEN||605265|REc|||| | ||
15.423|7|12|02|15q15.2|CCNDBP1, GCIP|P|Cyclin D-type-binding protein 1||607089|R|||| | ||
15.424|4|26|90|Chr.15|COL1AR|P|Collagen I, alpha, receptor||120340|S|||| | ||
15.425|3|3|03|15q15.1|DISPB, KIAA1742|P|Dispatched, Drosophila, homolog of, B||607503|R|||| | ||
15.426|7|11|01|15q26.3|DMN|P|Desmuslin||606087|R|||| | ||
15.427|1|24|93|15q21.1-q21.2|GALK2, GK2|P|Galactokinase-2||137028|Psh|||| | ||
15.428|4|19|02|15q21.2|GNB5|P|Guanine nucleotide-binding protein, beta-5||604447|R|||| | ||
15.429|5|22|03|15q25.1|MESDC2, MESD, BOCA, KIAA0081|P|Mesoderm development candidate gene 2||607783|Psh, H|||| | |7(Mesdc2)|
15.430|7|11|01|15q15.1|PLA2G4B|P|Phospholipase A2, group IVB||606088|REc|||| | ||
15.431|4|15|02|15q23|RPLP1|P|Ribosomal phosphoprotein, Large, P1||180520|R|||| | ||
15.432|5|13|02|15q24.1|SCAMP2|P|Secretory carrier membrane protein 2||606912|R|||| | ||
16.1|10|26|99|16p13.3|SYNGR3|P|Synaptogyrin 3||603927|A|||| | ||
16.2|8|3|11|16p13.3|HBA1, HBH|C|Hemoglobin alpha-1||141800|HS|1, 2, or 3 loci;|5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3'|Thalassemias, alpha-, 604131 (3); Methemoglobinemias, alpha- (3);|Erythremias, alpha- (3); Heinz body anemias, alpha-, 140700 (3); Hemoglobin H disease, nondeletional, 613978 (3)| |11(Hba)|
16.3|8|30|11|16p13.3|HBA2, HBH|C|Hemoglobin alpha-2||141850|HS|||Thalassemia, alpha-, 604131 (3); Heinz body anemia, 140700 (3);|Erythrocytosis (3); Hypochromic microcytic anemia (3); Hemoglobin H disease, nondeletional, 613978 (3)| |11(Hba)|
16.4|1|12|89|16p13.3|HBQ1|P|Hemoglobin theta-1||142240|RE|||| | ||
16.5|7|17|91|16p13.3|HBZ|P|Hemoglobin, zeta||142310|RE|||| | ||
16.6|6|11|93|16pter-p13.3|HBHR, ATR1|C|Alpha-thalassemia/mental retardation syndrome, type 1||141750|Fd, RE, D|contiguous gene syndrome involving deletion of HBA1 and HBA2||Alpha-thalassemia/mental retardation syndrome, type 1 (4)| | ||Weatherall (1981); Wilkie (1990b)
16.7|10|15|95|16p13.3|MPG, MDG|P|N-methylpurine DNA glycosylase||156565|REa, REn|75kb upstream of HBZ||| | |11(Mpg)|
16.8|2|28|03|16pter-p13|CHDS1|P|Coronary heart disease, susceptibility to, 1||607339|Fd|||{Coronary heart disease, susceptibility to} (2)| | ||
16.9|1|26|97|16p13.3|ZNF75A|P|Zinc finger protein-75A||601473|REa|||| | ||
16.10|12|21|09|16p13.2|ABAT, GABAT|P|4-aminobutyrate aminotransferase||137150|R|||GABA-transaminase deficiency, 613163 (3)| | ||
16.11|5|21|07|16p13.3|ABCA3, ABC3, SMDP3|P|ATP-binding cassette-3||601615|REc|||Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)| | ||
16.12|11|20|98|16p13.3|ADCY9|P|Adenylate cyclase-9||603302|A|||| | |16(Adcy9)|
16.13|8|24|04|16p13.3|ALG1, HMAT1, HMT1, CDG1K|P|Alg1, yeast, homolog of (beta-1,4 mannosyltransferase)||605907|REc|||Congenital disorder of glycosylation, type Ik, 608540 (3)| | ||
16.14|7|18|06|16p13.3|AXIN1, AXIN|P|Axis inhibitor 1||603816|REc|||Hepatocellular carcinoma, somatic, 114550 (3); Caudal duplication|anomaly, 607864 (3) | ||
16.15|7|18|02|16p13.3|ATP6V0C, ATP6L, ATP6C|P|ATPase, H+ transporting, lysosomal, 16kD, V0 subunit c||108745|REc|||| | ||
16.16|10|26|99|16p13.3|BAIAP3, BAP3|C|BAI1-associated protein 3||604009|A, R|||| | ||
16.17|8|5|11|16p13.3|C1QTNF8, CTRP8|P|C1q- and tumor necrosis factor-related protein 8||614147|REc|||| | ||
16.18|10|30|06|16p13.3|C16orf5|P|Chromosome 16 open reading frame 5||610503|A, Psh|||| | ||
16.19|8|20|07|16p13.3|C16orf30, CLP24|P|Claudin-like protein 24||611002|REc|||| | ||
16.20|10|6|09|16p13.3|CACNA1H, EIG6, ECA6|P|Calcium channel, voltage-dependent, T type, alpha-1H subunit||607904|R, A|||{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3);|{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3) | |17(Cacna1h)|
16.21|8|29|08|16p13.3|CASKIN1, KIAA1306|P|CASK-interacting protein 1||612184|R, REc|||| | ||
16.22|9|14|12|16p13.3|CCDC78, C16orf25, CNM4|P|Coiled-coil domain-containing protein 78||614666|REc|||Myopathy, centronuclear, 4, 614807 (3)| | ||
16.23|1|12|95|16p13.3|CCNF, FBX1|P|Cyclin F||600227|REn|||| | |17(Ccnf)|
16.24|8|30|07|16p13.3|CEMP1, CP23|P|Cementum protein 1||611113|R, REc|||| | ||
16.25|11|9|95|16p13.3|CGTHBA|P|Conserved gene telomeric to alpha globin cluster||600928|REn|||| | ||
16.26|2|2|10|16p13.3|CHTF18, CHL12, CTF18|P|Chromosome transmission fidelity factor 18, S. cerevisiae, homolog of||613201|REc|||| | ||
16.27|10|13|09|16p13.3|CORO7, POD1, CRN7|P|Coronin 7||611668|REc|||| | ||
16.28|12|4|95|16p13.3|CREBBP, CBP, RSTS|C|CREB binding protein||600140|A, Ch|fusion partner with MORF in AML; fusion partner with MLL in|therapy-related acute leukemia; fusion partner with MOZ in AML|Rubinstein-Taybi syndrome, 180849 (3)| | ||
16.29|1|17|95|16p13.3|DCI|P|Dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A|isomerase)|600305|Psh, A|||| | ||
16.30|6|1|12|16p13.3|DFNB86|P|Deafness, autosomal recessive 86||614617|Fd|max lod at D16S3024||Deafness, autosomal recessive 86 (2)| | ||
16.31|1|27|04|16p13.3|DNAJA3, TID1|P|DNAJ, E. coli, homolog of, subfamily A, member 3||608382|REc|||| | ||
16.32|5|26|05|16p13.3|DNASE1, DNL1|P|Deoxyribonuclease I||125505|Psh|||{Systemic lupus erythematosus, susceptibility to}, 152700 (3)| | ||
16.33|9|9|10|16p13.3|DUP16p13.3, C16DUPq13.3|P|Chromosome 16p13.3 duplication syndrome||613458|Ch|contiguous gene duplication syndrome||Chromosome 16p13.3 duplication syndrome (4)| | ||
16.34|9|10|98|16p13.3|E4F1, E4F|C|E4F transcription factor 1||603022|REc, Psh, A|||| | |17(E4fl)|
16.35|4|17|07|16p13.3|EME2|P|Essential meiotic endonuclease 1, S. pombe, homolog of, 2||610886|REc|||| | ||
16.36|6|4|13|16p13.3|FAM86A|P|Family with sequence similarity 86, member A||615263|REc|||| | ||
16.37|6|13|12|16p13.3|FBXL16, FBL16, C16orf22|P|F-box and leucine-rich repeat protein 16||609082|REc|||| | |17(Fbxl16)|
16.38|11|13|07|16p13.3|GLIS2, NPHP7|C|GLIS family zinc finger protein 2||608539|REc|||Nephronophthisis 7, 611498 (3)| | |16(Glis2)|
16.39|4|29|03|16p13.3|GNG13|P|Guanine nucleotide-binding protein, gamma-13||607298|REc|||| | ||
16.40|10|10|05|16p13.3|HBM|P|Humoglobin mu||609639|REc|?functional||| | ||
16.41|5|23|94|16p13.3|HMOX2|P|Heme oxygenase, decycling, 2||141251|Psh, A|||| | ||
16.42|6|7|12|16p13.3|IFT140, KIAA0590, MZSDS|P|Intraflagellar transport 140, Chlamydomonas, homolog of||614620|REc|||Mainzer-Saldino syndrome, 266920 (3)| | ||
16.43|3|30|04|16p13.3|IGFALS, ALS|P|Insulin-like growth factor-binding protein, acid-labile subunit||601489|REc|||Acid-labile subunit, deficiency of (3)| | ||
16.44|5|2|05|16p13.3|IL32, NK4|P|Interleukin 32||606001|REc|||| | ||
16.45|5|26|13|16p13.3|KCTD5|P|Potassium channel tetramerization domain-containing protein 5||611285|REc, R|||| | ||
16.46|2|21|06|16p13.3|KREMEN2, KRM2|P|Kringle domain-containing transmembrane protein 2||609899|REc|||| | ||
16.47|1|29|08|16p13.3|LMF1, TMEM112|P|Lipase maturation factor 1||611761|REc, H|||Lipase deficiency, combined, 246650 (3)| | |17(Lmf1)|
16.48|5|22|03|16p13.3|LUC7L|P|Luc7, S. cerevisiae, homolog of||607782|REc|||| | |17(Luc7l)|
16.49|7|26|06|16p13.3|MCOPCT1|P|Microphthalmia with cataract 1||156850|Ch|proximal to HBA1||Microphthalmia with cataract 1 (2)| | ||Yokoyama (1992)
16.50|8|20|07|16p13.3|METRN|P|Meteorin||610998|REc|||| | |17(Metrn)|
16.51|2|12|03|16p13.3|MGRN1, KIAA0544|C|Mahogunin, ring finger 1||607559|R|||| | |16(Mgrn1)|
16.52|3|23|09|16p13.3|MIR1225, MIRN1225|P|Micro RNA 1225||611621|REc|||| | ||
16.53|8|8|13|16p13.3|MMP25, MMP20A|P|Matrix metalloproteinase 25||608482|REc, R|||| | ||
16.54|1|21|11|16p13.3|MMRFCGU|P|Microcephaly, mental retardation, and distinctive facies, with|cardiac and genitourinary malformations|613680|Fd|||Microcephaly, mental retardation, and distinctive facies, with|cardiac and genitourinary malformations (2) | ||
16.55|3|11|08|16p13.3|MRPL28, MAAT1|P|Mitochondrial ribosomal protein L28||604853|R, REc|||| | ||
16.56|3|31|11|16p13.3|MLST8, GBL, LST8, WAT1, POP3|P|MTOR-associated protein LST8||612190|REc|||| | ||
16.57|9|24|11|16p13.3|NAA60, NAT15|P|N-alpha-acetyltransferase 60, NatF catalytic subunit||614246|REc|||| | ||
16.58|3|2|10|16p13.3|NAGPA, UCE|P|N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase||607985|R, REc|||| | ||
16.59|9|10|07|16p13.3|NARFL, IOP1|P|Nuclear prelamin A recognition factor-like||611118|REc|||| | ||
16.60|6|15|99|16p13.3|NDUFB10|P|NADH-ubiquinone oxidoreductase 1 beta subcomplex, 10||603843|R|||| | ||
16.61|6|18|97|16p13.3|NME4|P|Non-metastatic cells 4, protein expressed in||601818|REa, A|||| | ||
16.62|12|29|06|16p13.3|NP60|P|Nuclear protein, 60kD||610660|REc|||| | ||
16.63|6|19|98|16p13.3|NTN2L|P|Netrin-2, chicken, homolog of, like||602349|REf|||| | ||
16.64|2|22|07|16p13.3|NUBP2, CFD1|C|Nucleotide-binding protein 2||610779|R, H|||| | |17(Nubp2)|
16.65|11|19|11|16p13.3|PAM16, MAGMAS|P|Presequence translocase-associated motor 16, S. cerevisiae, homolog of||614336|REc|||| | ||
16.66|4|19|12|16p13.3|PAQR4|P|Progestin and ADIPOQ receptor family, member 4||614578|REc|||| | ||
16.67|8|22|07|16p13.3|PDIA2, PDIP|P|Protein disulfide isomerase, family A, member 2||608012|Psh, A|||| | ||
16.68|1|31|01|16p13.3|PDPK1, PDK1|P|3-phosphoinositide-dependent protein kinase 1||605213|REc|||| | ||
16.69|10|12|90|16p13.3|PGP|C|Phosphoglycolate phosphatase||172280|S, F, Fd|no recombination with PKD1||| | ||
16.70|9|21|11|16p13.3|PKDTS|C|Polycystic kidney disease, infantile severe, with tuberous sclerosis||600273|RE, Ch|contiguous gene syndrome caused by deletion of TSC2 and PKD1||Polycystic kidney disease, infantile severe, with tuberous sclerosis|(4) | ||
16.71|8|8|13|16p13.3|PKMYT1, MYT1|P|Protein kinase, membrane-associated tyrosine/threonine, 1||602474|REc|||| | ||
16.72|8|22|90|16p13.13|PRM1|C|Sperm protamine P1||182880|REa, A|16q21 = conflicting localization||| | |16(Prm1)|
16.73|8|22|90|16p13.13|PRM2|C|Sperm protamine P2||182890|H, RE|in same 4.8kb fragment as PRM2||| | |16(Prm2)|
16.74|3|22|07|16p13.3|PRSS21, ESP1|C|Protease, serine, 21 (testisin)||608159|A, R|||| | ||
16.75|7|1|05|16p13.3|PRSS22|P|Protease, serine, 22||609343|REc|||| | |17(Prss22)|
16.76|4|14|11|16p13.3|PRSS33, EOS|P|Protease, serine, 33||613797|REc|||| | ||
16.77|9|7|10|16p13.3|PTX4|P|Pentraxin 4, long||613442|REc|||| | |17(Ptx4)|
16.78|12|29|06|16p13.3|RAB11FIP3, EFERIN, KIAA0665|P|RAB11 family-interacting protein 3||608738|R, REc|||| | ||
16.79|12|8|00|16p13.3|RAB26|P|RAS-associated protein RAB26||605455|Psh, R|||| | ||
16.80|1|1|12|16p13.3|RHBDF1, IRHOM1, DIST1|C|Rhomboid 5, Drosophila, homolog of, 1||614403|REc, REn, H|||| | |11(Rhbdf1)|
16.81|6|24|10|16p13.3|RHBDL, RRP|C|Rhomboid, Drosophila, homolog of||603264|REc|||| | ||
16.82|4|15|11|16p13.3|RHOT2, MIRO2, ARHT2|P|Ras homolog gene family, member T2||613889|REc|||| | |17(Rhot2)|
16.83|5|8|12|16p13.3|ROGDI, KTZS|P|Rogdi, Drosophila, homolog of||614574|REc|||Kohlschutter-Tonz syndrome, 226750 (3)| | ||
16.84|8|20|99|16p13.3|RS11|P|Regulator of G protein signaling 11||603895|REc|||| | ||
16.85|8|20|99|16p13.3|RPS2|P|Ribosomal protein S2||603624|REa|||| | ||
16.86|12|29|06|16p13.3|DEL16p13.3, RSTSS|P|Chromosome 16p13.3 deletion syndrome (Rubinstein-Taybi deletion|syndrome)|610543|Ch|contiguous gene deletion syndrome||Chromosome 16p13.3 deletion syndrome (4)| | ||
16.87|9|18|12|16p13.3|SEPT12, SPGF10|P|Septin 12||611562|REc|||Spermatogenic failure 10, 614822 (3)| | ||
16.88|6|24|10|16p13.3|SEPX1, SELX|P|Selenoprotein X, 1||606216|R, REc|||| | ||
16.89|1|7|02|16p13.3|SLC9A3R2, SIP1, NHERF2|P|Solute carrier family 9 (sodium/hydrogen exchanger), member 3|regulatory factor 2|606553|REc|||| | ||
16.90|5|23|11|16p13.3|SLX4, BTBD12, MUS312, KIAA1784, KIAA1987, FANCP|P|Slx4, S. cerevisiae, homolog of||613278|REc|||Fanconi anemia, complementation group P, 613951 (3)| | ||
16.91|11|10|98|16p13.3|SOLH|P|Small optic lobes, Drosophila, homolog of||603267|A|conflicting localization to Xq24||| | ||
16.92|4|11|01|16p13.3|SOX8|P|SRY-box 8||605923|REc|||| | ||
16.93|12|18|07|16p13.3|SPSB3, SSB3|P|SPRY domain- and SOCS box-containing 3||611659|REc|||| | ||
16.94|1|29|01|16p13.3|SRL|P|Sarcalumenin||604992|REc|||| | ||
16.95|12|5|08|16p13.3|SSTR5|C|Somatostatin receptor-5||182455|REa, A|||Somatostatin analog, resistance to, 102200 (3)| | |17(Sstr5)|
16.96|6|24|10|16p13.3|STUB1, CHIP|P|STIP1 homologous and U box-containing protein 1||607207|R, REc|||| | ||
16.97|12|27|13|16p13.3|TBC1D24, KIAA1171, FIME, EIEE16, DOORS|P|TBC1 domain family, member 24||613577|REc|||Myoclonic epilepsy, infantile, familial, 605021 (3); Epileptic|encephalopathy, early infantile, 16, 615338 (3); DOOR syndrome, 220500 (3)| ||
16.98|5|14|01|16p13.3|TBL3|P|Transducin-beta-like 3||605915|REa, R|||| | ||
16.99|7|22|09|16p13.3|TELO2, TEL2, CLK2, KIAA0683, HCLK2|P|Telomere maintenance 2, S. cerevisiae, homolog of||611140|R|||| | ||
16.100|9|24|13|16p13.3|THOC6, FSAP35, BBIS|P|THO complex subunit 6||615403|REc|||Beaulieu-Boycott-Innes syndrome, 613680 (3)| | ||
16.101|12|7|07|16p13.2|TMEM114|P|Transmembrane protein 114||611579|REc|||| | ||
16.102|12|23|02|16p13.3|TNFRSF12A, FN14, TWEAKR|P|Tumor necrosis factor receptor superfamily, member 12A||605914|A|||| | |17(Fn14)|
16.103|4|25|93|16p13.13|TNP2|C|Transition protein-2 (during histone to protamine replacement)||190232|REn, A|in 13kb segment with PRM1 and PRM2||| | |16(Tnp2)|
16.104|3|23|05|16p13.3|TPSAB1, TPS1|C|Tryptase, alpha/beta-1||191080|REa, REn, A|||| | ||
16.105|3|23|05|16p13.3|TPSB2, TPS2|C|Tryptase, beta 2||191081|REa, REn, A|||| | ||
16.106|3|23|05|16p13.3|TPSD1, MCP7L1|C|Tryptase, delta-1||609272|A, REc|||| | ||
16.107|7|1|05|16p13.3|TPSG1, TMT|P|Tryptase, gamma-1||609341|Psh, REc|||| | |17(Tpsg1)|
16.108|2|26|10|16p13.3|TRAF7, RFWD1|P|TNF receptor-associated factor 7||606692|R, REc|||| | ||
16.109|9|8|08|16p13.3|TRAP1, HSP75, HSP90L|C|Tumor necrosis factor receptor-associated protein 1||606219|REc|||| | ||
16.110|2|14|02|16p13.3|TSC2, LAM|C|Tuberin (tuberous sclerosis 2 gene)||191092|Fd, Ch, D, REn|distal to PKD1||Tuberous sclerosis-2, 613254 (3); Lymphangioleiomyomatosis,|somatic, 606690 (3) | |17(Tsc2)|Kandt (1992); Short (1992)
16.111|2|24|97|16p13.3|UBE2I|C|Ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)||601661|A|||| | ||
16.112|12|20|05|16p13.3|UBN1|P|Ubinuclein 1||609771|REc|||| | |16(Ubn1)|
16.113|2|3|99|16p13.2|USP7, HAUSP|P|Ubiquitin-specific protease-7, herpes virus-associated||602519|REc|previously reported to map to 3p21||| | ||
16.114|8|19|04|16p13.3|VASN|P|Vasorin||608843|REc|||| | ||
16.115|3|29|07|16p13.3|WFIKKN1, WFIKKN|P|WAP, follistatin, immunoglobulin, Kunitz, and NTR domains-containing|protein 1|608021|REc|||| | ||
16.116|6|15|99|16p13.3|ZNF174|P|Zinc finger protein-174||603900|REa, A|||| | ||
16.117|6|18|99|16p13.3|ZNF205, ZNF210|P|Zinc finger protein-205||603436|REc|||| | ||
16.118|1|27|04|16p13.3|ZNF213, CR53|P|Zinc finger protein 213||608387|REn, REc|||| | ||
16.119|5|25|13|16p13.3|ZNF263|P|Zinc finger protein 263||604191|REc|||| | ||
16.120|7|20|12|16p13.3|ZNF597|P|Zinc finger protein 597||614685|REc|||| | ||
16.121|9|15|98|16q21|CSNK2A2|C|Casein kinase-2, alpha-prime polypeptide||115442|REa, A|||| | |8(Csnk2a2)|
16.122|3|29|99|16p13.3|NTHL1, OCTS3|P|Endonuclease III, E. coli, homolog of||602656|A|||| | ||
16.123|4|16|10|16p13.2|PMM2, CDG1A|C|Phosphomannomutase 2||601785|REa, REc, Fd, R|||Congenital disorder of glycosylation, type Ia, 212065 (3)| | ||
16.124|7|12|13|16p13.12|ERCC4, XPF, FANCQ|C|Excision-repair, complementing defective, in Chinese hamster,|number 4|133520|S, A|||Xeroderma pigmentosum, group F, 278760 (3); XFE progeroid syndrome,|610965 (3); Fanconi anemia, complementation group Q, 615272 (3); Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)| ||
16.125|10|12|09|16p13.3|GFER, ERV1, ALR|P|Growth factor, erv1, S. cerevisiae, homolog of (augmenter of liver|regeneration)|600924|REn|||Myopathy, mitochondrial progressive, with congenital cataract,|hearing loss, and developmental delay, 613076 (3) | |17(Gfer)|
16.126|12|7|98|16p13.3|PKD1|C|Polycystin-1||601313|F, Fd, REn|||Polycystic kidney disease, adult type I, 173900 (3)| | |17(Pkd1)|
16.127|5|25|00|16p13.3-p12.1|MHAC|P|Microhydranencephaly||605013|Fd|||Microhydranencephaly (2)| | ||
16.128|5|28|03|16p13.13|LITAF, CMT1C|C|LPS-induced TNFA factor||603795|A, Fd|||Charcot-Marie-Tooth disease, type 1C, 601098 (3)| | ||
16.129|10|20|99|16p13.13|EMP2|P|Epithelial membrane protein 2||602334|REa, R, REc|||| | |16(Emp2)|
16.130|6|4|13|16p13.2|METTL22, C16orf68|P|Methyltransferase-like 22||615261|REc|||| | ||
16.131|1|2|03|16p13.13|SOCS1, SSI1, CIS1, CISH1|P|Suppressor of cytokine signaling 1||603597|REc|||| | ||
16.132|11|22|10|16p13.2-p13.1|ATF7IP2, MCAF2|P|Activating transcription factor 7-interacting protein 2||613645|REc|||| | ||
16.133|2|21|11|16p13.13|BCAR4|P|Breast cancer antiestrogen resistance 4||613746|REc|||| | ||
16.134|12|22|08|16p13.13|C16orf75, RMI2, BLAP18|P|BLM-associated protein, 18kD||612426|REc|||| | ||
16.135|9|15|10|16p13.13|CLEC16A, KIAA0350|P|C-type lectin domain family 16, member A||611303|REc, R|||| | ||
16.136|4|27|12|16p13.11|KIAA0430, LKAP, MARF1|P|KIAA0430 gene||614593|R, REc|||| | ||
16.137|2|28|06|16p13.11|MYH11, AAT4, FAA4|C|Myosin, heavy polypeptide-11, smooth muscle||160745|REa, A, Ch, Fd|fused with CBFB by inversion in acute myelomonocytic leukemia||Aortic aneurysm, familial thoracic 4, 132900 (3)| | |16(Myh11)|
16.138|7|20|12|16p13.12|MIR193B|P|Micro RNA 193B||614734|REc|||| | |16(Mir193b)|
16.139|7|20|12|16p13.12|MIR365A|P|Micro RNA 365A||614735|REc|||| | |16(Mir365a)|
16.140|6|24|10|16p13.12|PARN, DAN|P|Polyadenylate-specific ribonuclease||604212|R, REc|||| | ||
16.141|4|26|10|16p13.12|SHISA9, CKAMP44|P|Shisa, Xenopus, homolog of, 9||613346|REc|||| | |16(Shisa9)|
16.142|6|10|08|16p12.3|ACSM3, SAH|P|Acyl-CoA synthetase medium-chain family member 3||145505|REa, A|||{?Hypertension, essential} (1)| | ||
16.143|9|24|13|16p13.11|NOMO1|P|Nodal modulator 1||609157|REc|||| | ||
16.144|9|24|13|16p13.11|NOMO3|P|Nodal modulator 3||609159|REc|||| | ||
16.145|8|19|13|16p13.11|NTAN1|P|N-terminal asparagine amidase||615367|REc|||| | ||
16.146|9|28|11|16p13.11|PDXDC1, KIAA0251|P|Pyridoxal-dependent decarboxylase domain-containing protein 1||614244|REc|||| | ||
16.147|3|3|03|16p12.2|CRYM, DFNA40|P|Crystallin, mu||123740|Psh|||Deafness, autosomal dominant 40 (3)| | ||
16.148|11|1|99|16p13.11|ABCC1, MRP1, MRP|C|ATP-binding cassette, subfamily C, member 1 (multidrug|resistance-associated protein 1)|158343|A|||| | ||
16.149|2|24|12|16p13.11|ABCC6, ARA, ABC34, MLP1, PXE, GACI2|C|ATP-binding cassette, subfamily C, member 6||603234|A, Fd, LD|||Pseudoxanthoma elasticum, 264800 (3); Pseudoxanthoma elasticum,|forme fruste, 177850 (3); Arterial calcification, generalized, of infancy, 2, 614473 (3)| ||
16.150|8|17|92|16p13.13|GSPT1|P|G1 to S phase transition-1||139259|REa, A|||| | ||
16.151|6|13|11|16p13.11|NDE1, NUDE, LIS4|P|Nude, A. nidulans, homolog of, 1||609449|R, REc|||Lissencephaly 4 (with microcephaly), 614019 (3)| | ||
16.152|11|2|01|16p13.11|NPIP|P|Nuclear pore complex-interacting protein||606406|A|||| | ||
16.153|2|22|07|16p13.13|NUBP1, NBP|P|Nucleotide-binding protein 1||600280|R, H|||| | |16(Nubp1)|
16.154|12|18|98|16p13.13|TNFRSF17, BCMA|P|Tumor necrosis factor receptor superfamily, member 17|(B-cell maturation factor)|109545|Ch|||| | ||
16.155|1|10|07|16p12.3|XYLT1, XT1|P|Xylosyltransferase 1||608124|R|||{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)| | ||
16.156|11|2|01|16p12.1|CACNG3|C|Calcium channel, voltage-dependent, gamma-3 subunit||606403|REc|||| | ||
16.157|8|21|91|16p12.2|CDR2|P|Cerebellar degeneration-related antigen-2, 62kD||117340|REa, A|||| | |7(Cdr2)|
16.158|1|5|07|16p12.3|COQ7, CLK1|C|COQ7, S. cerevisiae, homolog of||601683|Psh, A, R|||| | ||
16.159|6|18|99|16p13.12|PLA2G10, SPLA2, GXSPLA2|P|Phospholipase A2, group X||603603|A|||| | ||
16.160|12|30|09|16p11.2|TAOK2, TAO2, KIAA0881, PSK, PSK1|C|Tao kinase 2||613199|R, REc|||| | ||
16.161|11|19|12|16p12.2|EARS2, KIAA1970, COXPD12|P|Glutamyl-tRNA synthetase 2||612799|REc|||Combined oxidative phosphorylation deficiency 12, 614924 (3)| | ||
16.162|1|31|01|16p11.2|MVP, LRP|P|Major vault protein, rat, homolog of||605088|A|||| | ||
16.163|9|22|04|16p13|ADHD1|C|Attention deficit-hyperactivity disorder, susceptibility to, 1||608903|Fd|max lod at D16S3114||{Attention deficit-hyperactivity disorder}, 143465 (2)| | ||
16.164|10|08|08|16p13|BMIQ5|P|Body mass index quantitative trait locus 5||608558|Fd|near D16S404 and D16S764||[Body mass index QTL5] (2)| | ||
16.165|11|19|13|16p13.2|GRIN2A, NMDAR2A, FESD, LKS|P|Glutamate receptor, ionotropic, N-methyl D-aspartate 2A||138253|A|||Epilepsy, focal, with speech disorder and with or without mental|retardation, 245570 (3) | ||
16.166|10|3|07|16p13.3|CLCN7, CLC7, OPTA2, OPTB4|C|Chloride channel-7||602727|A|||Osteopetrosis, autosomal recessive 4, 611490 (3); Osteopetrosis,|autosomal dominant 2, 166600 (3) | ||
16.167|7|1|11|16p13.3|HAGH, GLO2|C|Hydroxyacyl glutathione hydrolase; glyoxalase II||138760|S|||[Glyoxalase II deficiency], 614033 (1)| | ||
16.168|8|30|01|16p12.2|IGSF6, DORA|P|Immunoglobulin superfamily, member 6||606222|R|||| | |7(Igsf6)|
16.169|1|24|09|16p13.3|MEFV, MEF, FMF|C|Pyrin (marenostrin)||608107|Fd, LD|between D16S80 and D16S283||Familial Mediterranean fever, AR, 249100 (3); Familial|Mediterranean fever, AD, 134610 (3) | |16(Mefv)|Kastner (1992); Pras (1992)
16.170|7|22|09|16p13.13|MHC2TA, C2TA|P|MHC class II transactivator||600005|A, R|||Bare lymphocyte syndrome, type II, complementation group A, 209920|(3); {Rheumatoid arthritis, susceptibility to}, 180300 (3) | ||
16.171|5|26|13|16p13.3|NOXO1|P|NADPH oxidase organizer 1||611256|REc|||| | |17(Noxo1)|
16.172|11|5|98|16p13.3|OR1F1, OLFMF|P|Olfactory receptor, family 1, subfamily F, member 1||603232|REn|||| | ||
16.173|8|10|98|16p13.3|PPL|P|Periplakin||602871|R, H|||| | |16(Ppl)|
16.174|9|8|11|16p13.3|RBFOX1, 2BP1, FOX1, HRNBP1|C|RNA-binding protein FOX1, C. elegans, homolog of, 1||605104|Ch, A, REc|||| | ||
16.175|9|15|98|16p13.13|SNN|C|Stannin||603032|Psh, H|||| | |16(Snn)|
16.176|8|24|09|16p13.3|TIGD7, SANCHO|P|Tigger transposable element-derived gene 7||612969|REc|||| | ||
16.177|11|5|98|16p13.3|ZNF200|P|Zinc finger protein-200||603231|REn|||| | ||
16.178|7|19|06|16p13-p12|IHPS2|P|Pyloric stenosis, infantile hypertrophic, 2||610260|Fd|||Pyloric stenosis, infantile hypertrophic, 2 (2)| | ||
16.179|10|12|09|16p12.2|SCNN1B, BESC1|C|Sodium channel, nonvoltage-gated 1, beta||600760|REa, Fd, A, REc|||Liddle syndrome, 177200 (3); Pseudohypoaldosteronism, type I, 264350|(3); Bronchiectasis with or without elevated sweat chloride 1, 211400 (3) | |7(Scnn1b)|
16.180|10|12|09|16p12.2|SCNN1G, PHA1, BESC3|C|Sodium channel, nonvoltage-gated 1, gamma||600761|Fd, REn, A, REc|same 400kb fragment as SCNN1B||Liddle syndrome, 177200 (3); Pseudohypoaldosteronism, type I, 264350|(3); Bronchiectasis with or without elevated sweat chloride 3, 613071 (3) | |7(Scnn1g)|
16.181|10|15|95|16p13.3|TFAP4|L|Transcription factor AP-4 (activating enhancer-binding protein 4)||600743|H|||| | |16(Tfp4)|
16.182|12|1|11|16p12.3|ACSM1, MACS1|C|Acyl-CoA synthetase medium-chain family, member 1||614357|REc|||| | ||
16.183|12|1|11|16p12.3|ACSM2A|P|Acyl-CoA synthetase medium-chain family, member 2A||614358|REc|||| | ||
16.184|5|29|12|15q21.1|PATL2, PAT1A|P|Protein associated with topoisomerase II, S. Cerevisiae, homolog of||614661|REc|||| | ||
16.185|12|1|11|16p12.3|ACSM2B, HXMA|P|Acyl-CoA synthetase medium-chain family, member 2B||614359|REc|||| | ||
16.186|12|1|11|16p12.3|ACSM5|P|Acyl-CoA synthetase medium-chain family, member 5||614361|REc|||| | ||
16.187|4|8|13|16p12.3|CCP110, CP110, KIAA0419|P|Centrosomal coiled-coil protein, 110kD||609544|R, REc|||| | ||
16.188|2|1|11|16p12.3|GP2|P|Glycoprotein 2, zymogen granule membrane||602977|REc|previously assigned to chr.9||| | ||
16.189|7|11|12|16p12.3|LYRM1|P|LYR motif-containing protein 1||614709|REc|||| | ||
16.190|9|24|13|16p12.3|NOMO2|P|Nodal modulator 2||609158|REc|||| | ||
16.191|11|3|09|16p12.3|UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2|C|Uromodulin (uromucoid, Tamm-Horsfall glycoprotein)||191845|REa, Fd|||Hyperuricemic nephropathy, familial juvenile 1, 162000 (3);|Medullary cystic kidney disease 2, 603860 (3); Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3)| |7(Umod)|
16.192|5|7|01|16p12.3|GPRC5B, RAIG2|C|G protein-coupled receptor, family C, group 5, member B||605948|REc|||| | ||
16.193|4|21|10|16p12.1|LCMT1|P|Leucine carboxyl methyltransferase 1||610286|R, REc|||| | ||
16.194|6|15|99|16p12.2|NDUFAB1|P|NADH-ubiquinone oxidoreductase 1, alpha/beta subcomplex, 1||603836|R|||| | ||
16.195|5|12|98|16p12.3-p12.1|RP22|P|Retinitis pigmentosa-22||602594|Fd|||Retinitis pigmentosa 22 (2)| | ||
16.196|3|9|10|16p12.2|ANKS4B, HARP, FLJ38819|P|Ankyrin repeat and sterile alpha motif domain-containing protein 4B||609901|REc, H|||| | |7(Harp)|
16.197|3|14|07|16p12.1|ARHGAP17, RICH1|P|RHO GTPase-activating protein 17||608293|R, REc|||| | ||
16.198|9|10|09|16p12.2|DCTN5, p25|P|Dynactin 5||612962|REc|||| | ||
16.199|12|10|13|16p12.2|ERN2|P|Endoplasmic reticulum-to-nucleus signaling 2||604034|R, H, REc|||| | |7(Ern2)|
16.200|6|18|02|16p12.2|OTOA, DFNB22|P|Otoancorin||607038|REc, Fd|||Deafness, autosomal recessive 22, 607039 (3)| | ||
16.201|11|1|10|16p12.2-p11.2|DEL16p12.1p11.2, C16DELp12.1p11.2|P|Chromsome 16p12.2-p11.2 deletion syndrome||613604|Ch|17.1-8.7 Mb contiguous gene deletion syndrome||Chromosome 16p12.2-p11.2 deletion syndrome (4)| | ||
16.202|9|25|12|16p12.2-q12.1|MRT10, MRT20|P|611096||611096|Fd|between rs724466 and rs3901517, rs7197568 and rs71972227||Mental retardation, autosomal recessive 10/20 (2)| | ||
16.203|1|5|12|16p11.2|CLN3, BTS|C|Battenin||607042|F, Fd|||Ceroid lipofuscinosis, neuronal, 3, 204200 (3)| | |7(Cln3)|
16.204|3|31|08|16p12.1|JMJD5|P|Jumonji domain-containing protein 5||611917|REc|||| | ||
16.205|5|24|13|16p12.1|SLC5A11, KST1, SGLT6, SMIT2|P|Solute carrier family 5 (sodium/glucose cotransporter), member 11||610238|REc, A|||| | ||
16.206|1|27|04|16p11.2|XPO6, EXP6, KIAA0370|P|Exportin 6||608411|R, REc|||| | ||
16.207|3|20|06|16p12.1|IL4R, IL4RA|P|Interleukin-4 receptor||147781|A, REa|||{Atopy, susceptibility to}, 147050 (3); {AIDS, slow progression to},|609423 (3) | |7(Il4r)|
16.208|1|11|07|16p12.1-p11.2|MMVP1, MVP, PMV|P|Mitral valve prolapse, myxomatous 1||157700|Fd|||Mitral valve prolapse, myxomatous 1 (2)| | ||
16.209|1|9|09|16p11.2|PHKG2, GSD9C|P|Phosphorylase kinase, gamma 2 (testis/liver)||172471|REa|||Glycogen storage disease IXc, 613027 (3); Cirrhosis due to liver|phosphorylase kinase deficiency (3) | ||
16.210|5|27|97|16p11.2|SULT1A1, STP1, STP, PST|P|Sulfotransferase family 1A, phenol-preferring, member 1||171150|Psh|||| | |7(Stp)|
16.211|8|18|99|16p11.2|SULT1A2, STP2|C|Sulfotransferase family 1A, phenol-preferring, member 2||601292|Psh, REn|45kb from STP1||| | |7(Stp)|
16.212|10|8|96|16p11.2|ATP2A1, SERCA1|C|ATPase, Ca++ transporting, fast-twitch, 1||108730|REa, A|||Brody myopathy, 601003 (3)| | |7(Atp2a1)|
16.213|5|4|12|16p12|DEL16p12.1, C16DELp12.1|P|Chromosome 16p12.1 deletion syndrome, 520kb||136570|Ch|between 21.85-22.37 Mb||Chromosome 16p12.1 deletion syndrome, 520kb (4)| | ||
16.214|4|27|01|16p12.3|DNAH3, DNAHC3B|P|Dynein, axonemal, heavy chain 3||603334|A, R|||| | ||
16.215|6|6|00|16p12.2|HS3ST2, 30ST2|P|Heparan sulfate D-glucosaminyl 3-0-sulfotransferase 2||604056|REc|||| | |7(30st2)|
16.216|10|5|07|16p12|MAFD4, BPAD|P|Major affective disorder 4||611247|Fd|max lod at D16S769||Major affective disorder 4 (2)| | ||
16.217|4|22|10|16p12.2|PALB2, FANCN, PNCA3|P|Partner and localizer of BRCA2||610355|REc|||Fanconi anemia, complementation group N, 610832 (3); {Breast cancer,|susceptibility to}, 114480 (3); {Pancreatic cancer, susceptibility to, 3}, 613348 (3)| ||
16.218|9|14|05|16p13.11|RRN3, TIFIA|P|RRN3, S. cerevisiae, homolog of||605121|REc|||| | ||
16.219|6|27|02|16p12.3|SMG1, LIP, KIAA0421|P|SMG1, C. elegans, homolog of||607032|R, A|||| | ||
16.220|1|31|07|16p12.1|TNRC6A, GW182, KIAA1460|C|Trinucleotide repeat-containing gene 6A||610739|R, REc|||| | ||
16.221|3|8|13|16p12.2|UQCRC2, MC3DN5|P|Ubiquinol-cytochrome c reductase core protein II||191329|A|||Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)| | ||
16.222|7|19|10|16p12.2|ZP2|P|Zona pellucida glycoprotein 2||182888|REc|||| | ||
16.223|5|2|01|16p12.1|AQP8|P|Aquaporin 8||603750|REa, A, H|||| | |7(Aqp8)|
16.224|4|1|03|16p12.3|ARL6IP, KIAA0069|P|ADP-ribosylation factor-like 6 interacting protein||607669|A|||| | |7(Arl6ip)|
16.225|6|24|05|16p12-p11.2|EPRPDC|P|Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and|writer's cramp|608105|Fd|between D16S3133 and D16S3131||Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and|writer's cramp (2) | ||
16.226|2|17|09|16p12.3|GDE1, MIR16|P|Glycerophosphodiester phosphodiesterase 1||605943|REc|||| | ||
16.227|2|15|12|16p11.2|HSD3B7, CBAS1|C|3-beta-hydroxy-delta-5-C27-steroid oxidoreductase||607764|R|||Bile acid synthesis defect, congenital, 1, 607765 (3)| | ||
16.228|4|10|02|16p11.2|PYCARD, TMS1, ASC|P|PYD and CARD domain-containing protein|(target of methylation-induced silencing 1)|606838|A, R|||| | ||
16.229|8|4|98|16p12.1|RBBP6|P|Retinoblastoma-binding protein-6||600938|A|||| | ||
16.230|1|13|99|16p11.2|PPP4C, PP4, PPX|P|Protein phosphatase 4, catalytic subunit||602035|A|||| | ||
16.231|8|24|09|16p11.2|ALDOA, GSD12|C|Aldolase A, fructose-bisphosphatase||103850|REa, REb, A, REc|pseudogenes on 3 and 10||Glycogen storage disease XII, 611881 (3)| | ||
16.232|9|7|00|16p11.2|APOB48R|C|Apolipoprotein B48 receptor||605220|A, REc|||| | ||
16.233|11|27|13|16p11.2|ARMC5|P|Armadillo repeat-containing protein 5||615549|REc|||| | ||
16.234|11|12|12|16p11.2|BCKDK, BDK, BCKDKD|P|Branched-chain alpha-keto acid dehydrogenase kinase||614901|REc|||Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)| | ||
16.235|6|9|08|16p11.2|C16orf53, PA1|P|PTIP-associated 1 protein||612033|REc|||| | ||
16.236|4|26|10|16p11.2|CCDC101, STAF36|P|Coiled-coil domain-containing protein 101||613374|REc|||| | ||
16.237|12|15|10|16p11.2|CD19, CVID3|P|CD19 antigen||107265|Psh, A|||Immunodeficiency, common variable, 3, 613493 (3)| | ||
16.238|9|12|13|16p11.2|CORO1A, TACO, CLIPINA, IMD8|P|Coronin 1A||605000|REc|||Immunodeficiency 8, 615401 (3)| | ||
16.239|12|6|11|16p11.2|BMIQ16, DEL16p.11.2, C16DELp11.2|P|Chromosome 16p11.2 deletion syndrome, 220kb||613444|Ch|||Chromosome 16p11.2 deletion syndrome, 220kb (4); [Body mass|index QTL16] (4) | ||
16.240|6|7|12|16p11.2|DEL16p11.2, C16DELp11.2, AUTS14A|P|Chromosome 16p11.2 deletion syndrome, 593kb||611913|Ch|||Chromosome 16p11.2 deletion syndrome, 593kb (4);|{Autism susceptibility 14A} (2) | ||
16.241|6|7|12|16p11.2|DUP16p11.2, C16DUPp11.2, AUTS14B|P|Chromosome 16p11.2 duplication syndrome||614671|Ch|||Chromosome 16p11.2 duplication syndrome (4); {Autism, susceptibility|to, 14B} (2) | ||
16.242|1|12|07|16p11.2|DOC2A|P|Double C2-like domain-containing protein, alpha||604567|R, REc|||| | ||
16.243|10|3|07|16p11.2|EIF3C, EIF3S8|P|Eukaryotic translation initiation factor 3, subunit C||603916|REc|||| | ||
16.244|1|25|05|16p11.2|ERAF, EDRF, AHSP|P|Erythroid-associated factor|(alpha-hemoglobin stabilizing protein)|605821|REc|||| | ||
16.245|4|17|13|16p11.2|FAM57B|P|Family with sequence similarity 57, member B||615175|REc|||| | ||
16.246|7|1|11|16p11.2|FBXL19, FBL19|P|F-box and leucine-rich repeat protein 19||609085|REc|||| | ||
16.247|9|14|12|16p11.2|FUS, TLS, ALS6, ETM4|C|Fusion, derived from 12-16 translocation, malignant liposarcoma||137070|Ch, RE, REc|fused with DDIT3 in myxoid liposarcoma, with ERG in leukemia, and|ATF1 in angiomatoid fibrous histiocytoma|Amyotrophic lateral sclerosis 6, autosomal recessive, with or without|frontotemporal dementia, 608030 (3); Tremor, hereditary essential, 4, 614782 (3)| ||
16.248|7|20|12|16p11.2|HIRIP3|P|HIRA-interacting protein 3||603365|REc|||| | ||
16.249|6|6|00|16p12.1|HS3ST4, 30ST4|P|Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4||604059|REc|||| | |7(30st4)|
16.250|3|31|98|16p11.2|ITGAD, CD11D|P|Integrin, alpha D||602453|A|||| | ||
16.251|6|11|92|16p11.2|ITGAL, CD11A, LFA1A|C|Integrin, alpha-L (antigen CD11A (p180), lymphocyte|function-associated antigen-1, alpha polypeptide)|153370|S, REa, A|||| | |7(Ly15)|
16.252|9|24|08|16p11.2|ITGAM, CR3A, CD11B, MAC1A, SLEB6|C|Integrin, alpha-M (complement component receptor-3, alpha; antigen|CD11B (p170); macrophage antigen, alpha polypeptide)|120980|RE, A|?in same restriction fragment as LFA1A||{Systemic lupus erythematous, association with susceptibility to, 6},|609939 (3) | ||
16.253|1|9|94|16p11.2|ITGAX, CD11C|P|Integrin, alpha-X (antigen CD11C (p150), alpha polypeptide)||151510|REa, A|||| | ||
16.254|8|29|13|16p11.2|KAT8, MYST1, MOF|P|K(lysine) acetyltransferase 8||609912|REc|||| | ||
16.255|10|1|04|16p11.2|KCTD13, POLDIP1, FKSG86|P|Potassium channel tetramerization domain-containing 13||608947|A|||| | ||
16.256|1|25|12|16p11.2|KIF22, KNSL4, KID, OBP, SEMDJL2|C|Kinesin family member 22||603213|REc, A|||Spondyloepimetaphyseal dysplasia with joint laxity, type 2,|603546 (3) | ||
16.257|3|3|03|16p11.2|LAT|P|Linker for activation of T cells||602354|A|||| | ||
16.258|5|19|97|16p11.2|MAPK3, PRKM3, ERK1|P|Mitogen-activated protein kinase 3||601795|REa, A|||| | |7(Prkm3)|
16.259|10|26|98|16p11.2|MAZ, ZF87, PUR1|C|MYC-associated zinc finger protein||600999|A|||| | ||
16.260|3|30|12|16p11.2|NFATC2IP, NIP45|P|NFATC2-interacting protein||614525|REc|||| | ||
16.261|9|10|12|16p11.2|NUPR1, COM1, p8|P|Nuclear protein, transcriptional regulator, 1||614812|Psh|||| | ||
16.262|7|22|09|16p11.2|ORAI3, TMEM142C|P|ORAI calcium release-activated calcium modulator 3||610930|REc|||| | ||
16.263|8|13|91|16p12.2-p12.1|PRKCB1, PKCB|P|Protein kinase C, beta 1 polypeptide||176970|REa, A|||| | ||
16.264|11|21|12|16p11.2|PRRT2, PKC, DYT10, EKD1, BFIS2, BFIC2, ICCA|P|Proline-rich transmembrane protein 2||614386|Fd, REc|||Episodic kinesigenic dyskinesia 1, 128200 (3); Seizures, benign|familial infantile, 2, 605751 (3); Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3)| ||
16.265|5|26|13|16p11.2|PRSS53, POL3S|P|Protease, serine, 53||610561|REc|||| | ||
16.266|4|1|96|16p11.2|PRSS8|P|Protease, serine, 8 (prostasin)||600823|A|||| | ||
16.267|5|26|13|16p11.2|PRSS36|P|Protease, serine, 36||610560|REc|||| | ||
16.268|7|9|06|16p11.2|QPRT|P|Quinolinate phosphoribosyltransferase||606248|R|||| | ||
16.269|10|2|13|16p11.2|RABEP2|P|RAB GTPase-binding effector protein 2||611869|REc|||| | ||
16.270|2|15|12|16p11.2|SRCAP, SWR1, KIAA0309, FLHS|P|SNF2-related CBP activator protein||611421|R, REc|||Floating-Harbor syndrome, 136140 (3)| | ||
16.271|2|1|11|16p11.2|SEPHS2, SPS2|P|Selenophosphate synthetase 2||606218|REc|||| | |7(Sps2)|
16.272|7|22|09|16p11.2|SEPT1, DIFF6|P|Septin 1||612897|REc|||| | ||
16.273|8|21|07|16p11.2|SETD1A, SET1A, SET1, KIAA0339|P|SET domain-containing protein 1A||611052|R, REc|||| | ||
16.274|12|10|02|16p11.2|SLC5A2, SGLT2|P|Solute carrier family 5 (sodium/glucose cotransporter), member 2||182381|REa|||Renal glucosuria, 233100 (3)| | ||
16.275|10|12|90|16p11.2|SPN, LSN, CD43|C|Sialophorin (leukosialin)||182160|REa, A|||| | |7(Ly48)|
16.276|2|17|09|16p11.2|SPNS1, SPIN1|P|Spinster, Drosophila, homolog of, 1||612583|REc|||| | ||
16.277|1|21|11|16p11.2|STX4, STX4A|P|Syntaxin 4||186591|REc|||| | ||
16.278|8|18|99|16p11.2|SULT1A3, STM|C|Sulfotransferase family 1A, phenol-preferring, member 3||600641|REa, Psh|||| | ||
16.279|8|5|97|16p11.2|STX1B|P|Syntaxin 1B||601485|A|||| | ||
16.280|1|27|11|16p11.2|TBC1D10B|P|TBC1 domain family, member 10B||613620|REc|||| | ||
16.281|1|31|08|16p11.2|TBX6|C|T-box 6||602427|A, H, R|||| | |7(Tbx6)|
16.282|4|23|09|16p11.2|TGFB1I1, ARA55, HIC5|P|Transforming growth factor, beta-1-induced 1||602353|Psh, A|||| | ||
16.283|3|9|10|16p11.2|TRIM72, MG53|P|Tripartite motif-containing protein 72||613288|REc|||| | ||
16.284|1|5|07|16p11.2|TUFM, EFTU, COXPD4|C|Tu translation elongation factor, mitochondrial||602389|Psh, A|pseudogene on chr.17||Combined oxidative phosphorylation deficiency 4, 610678 (3)| | ||
16.285|4|21|04|16p11.2|VKORC1, VKOR, VKCFD2, FLJ00289|C|Vitamin K epoxide reductase complex, subunit 1||608547|REn, REc, Fd, H|||Vitamin K-dependent clotting factors, combined deficiency of, 2,|607473 (3); Warfarin resistance, 122700 (3) | ||
16.286|12|28|08|16p11.2|YPEL3|P|Yippee-like 3||609724|REc|||| | |7(Ypel3)|
16.287|1|31|01|16p11.2|CTF1, CT1|P|Cardiotrophin 1||600435|A, R|||| | ||
16.288|11|5|04|16p11.2|ATXN2L, A2D|P|Ataxin 2-like||607931|A|pseudogene at 7p21||| | ||
16.289|4|17|01|16p11.2|BCL7C|P|B-cell CLL/lymphoma 7C||605847|A|||| | ||
16.290|5|3|13|16p12.1|IL21R|C|Interleukin 21 receptor||605383|R, REc, Ch|fusion partner with BCL6||[IgE, elevated level of], 147050 (3); Immunodeficiency, primary,|autosomal recessive, IL21R-related, 615207 (3) | ||
16.291|3|22|07|16p11.2|IL27, IL30|P|Interleukin 27||608273|REc|||| | ||
16.292|7|7|04|16p12.2|COG7, CDG2E|C|Component of oligomeric golgi complex 7||606978|REc|||Congenital disorder of glycosylation, type IIe, 608779 (3)| | ||
16.293|3|13|08|16p13.3|GNPTAG|C|N-acetylglucosamine-1-phosphotransferase, gamma subunit||607838|REc|||Mucolipidosis III gamma, 252605 (3)| | ||
16.294|1|31|02|16p|IBD8|P|Inflammatory bowel disease 8||606668|Fd|||{Inflammatory bowel disease 8} (2)| | ||
16.295|8|20|99|16p12.3|RPS15A|P|Ribosomal protein S15a||603674|REa, R|||| | ||
16.296|8|30|02|16q21|CX3CL1, SCYD1, NTT, NTN|C|Chemokine, C-X3-C motif, ligand 1|(fractalkine; neurotactin)|601880|R, Psh, REc|||| | |8(Ntt)|
16.297|1|22|07|16q|PSORS8|P|Psoriasis susceptibility 8||610707|Fd|proximal to D16S3034||{Psoriasis susceptibility 8} (2)| | ||
16.298|2|27|02|16q|SLI1|P|Specific language impairment QTL, 1||606711|Fd|||Specific language impairment QTL, 1 (2)| | ||
16.299|9|2|96|16q|WT3|P|Wilms tumor-3||194090|D|loss of heterozygosity||Wilms tumor, type 3 (2)| | ||
16.300|7|23|03|16q12.1|NEOT2|P|Neuropilin and tolloid like 2||607974|REc|||| | ||
16.301|2|12|07|16q11-q22|AA2|P|Alopecia areata 2||610753|Fd|max lod at D16S415||Alopecia areata 2 (2)| | ||
16.302|12|9|05|16q11.1-q22|DUPC1|P|Dupuytren contracture 1||126900|Fd|max lod at D16S415||Dupuytren contracture 1 (2)| | ||
16.303|12|21|09|16p11.2|BOLA2|P|BolA, E. coli, homolog of, 2||613182|REc|||| | ||
16.304|7|10|08|16q11.2|MYLK3, MLCK|P|Myosin light chain kinase 3||612147|REc, H|||| | |8(Mylk3)|
16.305|8|20|07|16q11.2|SHCBP1, PAL|P|SHC SH2 domain-binding protein 1||611027|R, REc|||| | ||
16.306|7|12|12|16q12.2|IRX5, HMMS|P|Iroquois homeo box protein 5||606195|A|||Hamamy syndrome, 611174 (3)| | ||
16.307|7|8|03|16q12.2|IRX6, IRX7|P|Iroquois homeo box protein 6||606196|A|||| | ||
16.308|1|12|11|16q12.1|NOD2, CARD15, IBD1, CD, ACUG, PSORAS1|C|Nucleotide-binding oligomerization domain protein 2||605956|REc, Fd|||{Inflammatory bowel disease 1}, 266600 (3); Blau syndrome, 186580|(3); {Psoriatic arthritis, susceptibility to}, 607507 (3); Sarcoidosis, early-onset, 609464 (3)| ||
16.309|3|15|11|16q11.2|ORC6, ORC6L|P|Origin recognition complex, subunit 6, S. cerevisiae, homolog of||607213|REc|||Meier-Gorlin syndrome 3, 613803 (3)| | ||
16.310|5|28|98|16q12.1|SIAH1|C|Seven in absentia, Drosophila, homolog of, 1||602212|A|||| | ||
16.311|9|2|11|16q11.2|VPS35, MEM3, PARK17|P|Vacuolar protein sorting 35, yeast, homolog of||601501|REc|||Parkinson disease 17, 614203 (3)| | ||
16.312|10|25|12|16q12.1|ZNF423, ZFP423, OAZ, KIAA0760, NPHP14, JBTS19|P|Zinc finger protein 423||604557|R|||Nephronophthisis 14, 614844 (3); Joubert syndrome 19, 614844 (3)| | |8(Zfp423)|
16.313|3|21|95|16q12.1|ADCY7|P|Adenylate cyclase-7||600385|Psh, REc|||| | ||
16.314|6|17|08|16q12.1|CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS|P|CYLD gene||605018|Fd, REc|behaves as tumor suppressor||Cylindromatosis, familial, 132700 (3); Brooke-Spiegler syndrome,|605041 (3); Trichoepithelioma, multiple familial, 1, 601606 (3) | ||
16.315|2|10|00|16q12.1|PHKB|C|Phosphorylase kinase, beta polypeptide||172490|REa, A|||Phosphorylase kinase deficiency of liver and muscle, autosomal|recessive, 261750 (3) | ||
16.316|6|12|00|16q12-q13|SBS|P|Spiegler-Brooke syndrome||605041|Fd|||Spiegler-Brooke syndrome (2)| | ||
16.317|1|27|11|16q12.1|ABCC11, MRP8, EWWD, WW|C|ATP-binding cassette, subfamily C, member 11||607040|R, REc, Fd|||[Earwax, wet/dry], 117800 (3); [Axillary odor, variation in],|117800 (3); [Colostrum secretion, variation in], 117800 (3) | ||
16.318|6|28|02|16q12.1|ABCC12, MRP9|P|ATP-binding cassette, subfamily C, member 12||607041|R, REc|||| | ||
16.319|9|9|09|16q12.1|CLN1|P|Precerebellin 1||600432|REc|||| | |8(Cbln1)|
16.320|11|4|08|16q11.2-q12.1|DNAJA2, DJ3, CPR3|P|DNAJ/HSP40 homolog, subfamily A, member 2||611322|R, REc|||| | ||
16.321|7|2|07|16q11.2|GPT2, ALT2|P|Glutamate pyruvate transaminase 2||138210|REc|||| | ||
16.322|12|17|12|16q12.1|HEATR3, SYO1|P|HEAT repeat-containing protein 3||614951|REc|||| | ||
16.323|2|23|08|16q12.1|ITFG1, TIP|P|Integrin-alpha FG-gap repeat-containing protein 1||611803|R, REc|||| | ||
16.324|6|29|04|16q12.1|SALL1, HSAL1, TBS|P|Sal-like 1||602218|Ch, A|||Townes-Brocks syndrome, 107480 (3); Townes-Brocks|branchiootorenal-like syndrome, 107480 (3) | |8(Sall1)|
16.325|2|25|10|16q12.1|SNX20, SLIC1|P|Sorting nexin 20||613281|REc|||| | ||
16.326|4|24|09|16q12.1|STHAG2, HYD2|P|Tooth agenesis, selective, 2||602639|Fd|||Tooth agenesis, selective, 2 (2)| | ||
16.327|6|7|12|16q12.1-q23.1|STUT4|P|Stuttering, familial persistent, 4||614668|Fd|max lod at D16S3043||Stuttering, familial persistent, 4 (2)| | ||
16.328|5|21|07|16q12.2|AKTIP, FTS, FT1|P|AKT_interacting protein||608483|REc|||| | ||
16.329|12|24|08|16q12.2|BMIQ14|P|Body mass index quantitative trait locus 14||612460|Fd|associated with rs9939609||[Body mass index QTL14] (2)| | ||
16.330|8|24|09|16q12.2|FTO|P|Fat mass- and obesity-associated gene||610966|REc|||Growth retardation, developmental delay, coarse facies, and early|death, 612938 (3) | ||
16.331|9|2|09|16q12.2|IRX3, IRXB1|P|Iroquois homeobox protein 3||612985|R, REc|||| | ||
16.332|6|9|08|16q12.2|LPCAT1, AYTL1|P|Lysophosphatidylcholine acyltransferase 2||612040|R, REc|||| | ||
16.333|7|8|10|16q12.2|RPGRIP1L, KIAA1005, JBTS7, MKS5|C|RPGRIP1-like||610937|R, REc|||Joubert syndrome 7, 611560 (3); Meckel syndrome 5, 611561 (3);|COACH syndrome, 216360 (3) | ||
16.334|3|22|00|16q12.2|SLC6A2, NAT1, NET1|C|Solute carrier family 6 (neurotransmitter transporter, noradrenalin),|member 2, cocaine- and antidepressant-sensitive|163970|REa, A, Fd|||Orthostatic intolerance, 604715 (3)| | |8(Slc6a2)|
16.335|5|23|94|16q12.2|RBL2|P|Retinoblastoma-like 2||180203|A|||| | ||
16.336|9|16|03|16q13|HERPUD1, MIF1, HERP, KIAA0025|P|Homocysteine- and endoplasmic reticulum stress-inducible protein,|ubiquitin-like domain-containing, 1|608070|REa, REc|||| | ||
16.337|9|29|13|16q13|ARL2BP, BART|P|ADP ribosylation factor-like 2-binding protein||615407|REc|||Retinitis pigmentosa with or without situs inversus, 615434 (3)| | ||
16.338|2|26|10|16q21|C16orf57, PN|P|Chromosome 16 open reading frame 57||613276|REc|||Poikiloderma with neutropenia, 604173 (3)| | ||
16.339|8|29|02|16q21|CCL17, SCYA17, TARC|P|Chemokine, C-C motif, ligand 17||601520|R, Psh, REc|||| | ||
16.340|8|29|02|16q13-q21|CCL22, SCYA22|C|Chemokine, C-C motif, ligand 22||602957|R, Psh, REc|||| | ||
16.341|7|10|09|16q21|CNGB1, CNCG3L, CNCG2, RP45|P|Cyclic nucleotide gated channel, beta 1||600724|Psh, A|||Retinitis pigmentosa 45, 613767 (3)| | ||
16.342|5|25|13|16q13|CPNE2, CPN2|P|Copine II||604206|REc|||| | ||
16.343|5|24|12|16q21|COQ9, C16orf49, COQ10D5|P|Coq9, S. cerevisiae, homolog of||612837|REc|||Coenzyme Q10 deficiency, primary, 5, 614654 (3)| | ||
16.344|12|11|03|16q21|DOK4|P|Docking protein 4||608333|REc|||| | ||
16.345|11|1|13|16q12.2|GNAO1, EIEE17|P|Guanine nucleotide-binding protein (G protein), alpha-activating|activity|139311|REa, H|close to MT1 in mouse||Epileptic encephalopathy, early infantile, 17, 615473 (3)| | |8(Gnao1)|
16.346|5|31|05|16q21|GPR56, TM7XN1, BFPP|C|G protein-coupled receptor 56||604110|A, R, REc, Fd|||Polymicrogyria, bilateral frontoparietal, 606854 (3)| | |8(Gpr56)|
16.347|6|7|10|16q13|MIR138-2, MIRN138-2|P|Micro RNA 138-2||613395|REc|||| | ||
16.348|11|1|13|16q12.2|MMP2, CLG4A, MONA|C|Matrix metalloproteinase 2 (gelatinase A, 72kD type IV collagenase)||120360|REa, A, Ch|near MT1,2||Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)| | |8(Mmp2)|
16.349|2|23|92|16q12.2|MT1A|C|Metallothionein 1A (functional)||156350|REa, A, REn|proximal to FRA16B||| | |8(Mt1)|
16.350|2|23|92|16q12.2|MT1B|C|Metallothionein 1B (functional)||156349|REn|||| | ||
16.351|2|23|92|16q12.2|MT1E|C|Metallothionein 1E (functional)||156351|REn|||| | ||
16.352|2|23|92|16q12.2|MT1F|C|Metallothionein 1F (functional)||156352|REn|||| | ||
16.353|2|23|92|16q13|MT1G|C|Metallothionein 1G||156353|REn|||| | ||
16.354|2|23|92|16q13|MT1H|C|Metallothionein 1H||156354|REn|||| | ||
16.355|2|23|92|16q13|MT1I|C|Metallothionein 1I||156355|REn|||| | ||
16.356|2|23|92|16q12.2|MT1J|C|Metallothionein 1J||156356|REn|||| | ||
16.357|2|23|92|16q12.2|MT1K|C|Metallothionein 1K||156357|REn|||| | ||
16.358|2|23|92|16q12.2|MT1L|C|Metallothionein 1L||156358|REn|||| | ||
16.359|2|23|92|16q13|MT1X|C|Metallothionein 1X||156359|REn|||| | ||
16.360|2|23|92|16q12.2|MT2A, MT2|C|Metallothionein 2A||156360|REa, A, REn|pseudogene MT2P1 on 4cen-q21||| | |8(Mt2)|
16.361|12|16|93|16q12.2|MT3, GIFB|C|Metallothionein 3 (growth inhibitory factor (neurotrophic))||139255|REa|||| | ||
16.362|11|22|09|16p13.3|NME3, NM23H3|P|Nonmetastatic cells 3, protein expressed in||601817|Psh, A|||| | ||
16.363|12|1|11|16q13|NUP93, NIC96, KIAA0095|P|Nucleoporin, 93kD||614351|R, REc|||| | ||
16.364|5|15|96|16q13|SLC12A3, NCCT, TSC|C|Solute carrier family 12 (sodium/potassium/chloride transporters),|member 3|600968|Fd, A|||Gitelman syndrome, 263800 (3)| | ||
16.365|8|29|02|16q13|PLLP, PMLP, TM4SF11|P|Plasma membrane proteolipid (plasmolipin)||600340|R, A|||| | ||
16.366|8|3|12|16q21|TEPP|P|Testis-prostate-placenta-expressed protein||610264|REc|||| | ||
16.367|3|20|01|16q13-q21|ANMA|P|Anisomastia||605746|Ch|||Anisomastia (2)| | ||
16.368|2|7|01|16q21|KIFC3|P|Kinesin family member C3||604535|REa, R|||| | ||
16.369|1|13|99|16q21|MMP15|C|Matrix metalloproteinase 15||602261|A|||| | ||
16.370|4|24|08|16p13.3|MRPS34, MRPS12|P|Mitochondrial ribosomal protein S34||611994|REc|||| | ||
16.371|5|23|94|16q21|POLR2C|P|Polymerase (RNA) II (DNA directed) polypeptide C, 33kD||180663|A|||| | ||
16.372|9|23|08|16q12.2|CES1, SES1|C|Carboxylesterase 1 (monocyte/macrophage serine esterase 1)||114835|REa|||Carboxylesterase 1 deficiency (3)| | |8(Ces1)|
16.373|8|20|07|16q13-q22.1|EKD2|P|Episodic kinesigenic dyskinesia 2||611031|Fd|max lod at D16S503||Episodic kinesigenic dyskinesia 2 (2)| | ||
16.374|11|5|98|16q12.2|AMFR, GP78|P|Autocrine motility factor receptor||603243|A|||| | ||
16.375|8|27|01|16q12.2|BBS2|C|Bardet-Biedl syndrome 2||606151|Fd, REc|at least 1 family not linked to 16q21||Bardet-Biedl syndrome 2, 209900 (3)| | ||
16.376|2|18|10|16q21|BEAN, SCA31|P|Brain-expressed, associated with NEDD4||612051|REc|||Spinocerebellar ataxia 31, 117210 (3)| | ||
16.377|2|12|07|16q22.1|CES3, ES31|P|Carboxylesterase 3||605279|REc|||| | ||
16.378|9|6|11|16q13|CETP, HDLCQ10|C|Cholesteryl ester transfer protein, plasma||118470|REa, A|||Hyperalphalipoproteinemia, 143470 (3); [High density lipoprotein|cholesterol level QTL 10], 143470 (3) | ||
16.379|9|9|08|16q21|CNOT1, NOT1|P|CCR4-NOT transcription complex, subunit 1||604917|REc|||| | ||
16.380|9|30|11|16q21|SLC38A7, SNAT7|P|Solute carrier family 38 (amino acid transporter), member 7||614236|REc|||| | ||
16.381|11|30|06|16q21|GINS3, PSF3|P|GINS complex subunit 3||610610|R, REc|||| | ||
16.382|4|26|90|16q21|GOT2|C|Glutamic-oxaloacetic transaminase-2, mitochondrial (EC 2.6.1.1)||138150|S, F, H|?pseudogenes on 12 and 1||| | |8(Got2)|
16.383|10|11|01|16q22.1|WWP2|P|WW domain-containing protein 2||602308|R|||| | ||
16.384|4|30|09|16q22.2|DHX38, DDX38, PRP16|P|DEAH (Asp-Glu-Ala-His) box polypeptide 38|(PRP6, S. cerevisiae, homolog of)|605584|R|||| | ||
16.385|1|13|99|16q21|CDH8|P|Cadherin-8||603008|Psh|||| | ||
16.386|1|13|99|16q21|CDH11, CAD11|P|Cadherin-11 (OB-cadherin, osteoblast)||600023|H, Psh|||| | |8(cad11)|
16.387|5|6|13|16q22.1|HSF4, CTM, CTRCT5|C|Heat-shock transcription factor 4||602438|A, Fd|||Cataract 5, multiple types, 116800 (3)| | ||
16.388|2|24|12|16q21|NDRG4, SMAP8, KIAA1180|P|NMYC downstream-regulated gene 4||614463|REc|||| | ||
16.389|3|23|09|16q23.2|BCMO1, BCDO, BCO1|P|Beta-carotene 15,15-prime-dioxygenase||605748|Psh, R|||Hypercarotenemia and vitamin A deficiency, autosomal dominant,|115300 (3) | ||
16.390|10|27|89|16q22.1|CA7|P|Carbonic anhydrase VII||114770|REa, A|||| | ||
16.391|11|29|12|16q22.1|NOL3, NOP, MYC, ARC, FCM|P|Nucleolar protein 3||605235|R|||Myoclonus, familial cortical, 614937 (3)| | ||
16.392|11|3|11|16q21-q23|SCAR12|P|Spinocerebellar ataxia, autosomal recessive 12||614322|Fd|between D16S3091 and D16S3050||Spinocerebellar ataxia, autosomal recessive 12 (2)| | ||
16.393|3|15|10|16q22.1|AARS, CMT2N|C|Alanyl-tRNA synthetase||601065|A, R|||Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (2)| | ||
16.394|4|20|04|16q22.1|AGRP, ART, AGRT|P|Agouti-related transcript, mouse, homolog of||602311|A|||{Obesity, late-onset}, 601665 (3); {Leanness, inherited} (3)| | ||
16.395|8|29|01|16q22|ANBC|P|Aneurysmal bone cysts||606179|Ch|t(16:17); ?defect at 17p13||Aneurysmal bone cysts (2)| | ||
16.396|9|30|09|16q22|ATFB8|P|Atrial fibrillation, familial, 8||613055|Fd|associated with rs7193343||Atrial fibrillation, familial, 8 (2)| | ||
16.397|6|13|02|16q22.1|ATP6V0D1|C|ATPase, H=transporting lysosomal, 38kD, V0 subunit D, isoform 1||607028|R, REc|||| | ||
16.398|3|27|12|16q22|C16DELq22, DEL16q22|P|Chromosome 16q22 deletion syndrome||614541|Ch|||Chromosome 16q22 deletion syndrome (4)| | ||
16.399|3|27|12|16q22.1|CBFB, PEBP2B|C|Core-binding factor, beta subunit||121360|Ch|inv(16)(p13;q22); fuses to MYH11||Myeloid leukemia, acute, M4/M4Eo subtype, somatic, 601626 (1)| | ||
16.400|9|28|00|16q23.1|CHST5|P|Carbohydrate sulfotransferase-5 (GlcNAc-6-O-sulfotransferase,|intestinal)|604817|REc, R|||| | ||
16.401|9|28|00|16q23.1|CHST6, MCDC1|P|Carbohydrate sulfotransferase-6 (GlcNAc-6-sulfotransferase, corneal)||605294|Fd, REc, R|||Macular corneal dystrophy, 217800 (3)| | ||
16.402|9|18|00|16q22.1|CIRH1A, NAIC, TEX292, KIAA1988|C|Cirhin||607456|Fd, HZ|||Cirrhosis, North American Indian childhood type, 604901 (3)| | ||
16.403|12|5|11|16q21|CMTM1, CKLFSF1|P|CKLF-like marvel transmembrane domain-containing 1||607884|REc|||| | |8(Cklfsf1)|
16.404|12|5|11|16q21|CMTM2, CKLFSF2|P|CKLF-like marvel transmembrane domain-containing 2||607885|REc|||| | |8(Cklfsf2a/b)|
16.405|12|5|11|16q21|CMTM3, CKLFSF3|P|CKLF-like marvel transmembrane domain-containing 3||607886|REc|||| | |8(Cklfsf3)|
16.406|12|5|11|16q21-q22|CMTM4, CKLFSF4|P|CKLF-like marvel transmembrane domain-containing 4||607887|REc|||| | |8(Cklfsf4)|
16.407|5|26|13|16q23.1|CNTNAP4, CASPR4, KIAA1763|C|Contactin-associated protein-like 4||610518|R, REc|||| | ||
16.408|5|28|10|16q22.2|DHODH, URA1, POADS|P|Dihydroorotate dehydrogenase||126064|A|||Miller syndrome, 263750 (3)| | ||
16.409|4|29|02|16q22.1|FHOD1, FHOS|P|Formin homology 2 domain-containing 1||606881|R|||| | ||
16.410|9|24|11|16q22.1|HSD11B2, HSD11K, AME|C|Hydroxysteroid (11-beta) dehydrogenase 2||614232|A|||Apparent mineralocorticoid excess, 218030 (3)| | ||
16.411|4|16|09|16q22.1|NAE1, APPBP1|P|NEDD8 activating enzyme E1 subunit 1||603385|A|||| | ||
16.412|3|20|07|16q22.1|RLTPR|P|RGD-, leucine-rich repeat-, tropomodulin domain-, and proline-rich|domain-containing protein|610859|REc|||| | ||
16.413|9|26|96|16q22.1|RRAD|P|Ras-related associated with diabetes||179503|Fd, A|||| | ||
16.414|12|21|10|16q21|TK2, MTDPS2|C|Thymidine kinase, mitochondrial||188250|S, REc|||Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)| | ||
16.415|6|18|99|16q22.1|TRADD|L|TNRF1-associated death domain protein||603500|H|||| | |8(Tradd)|
16.416|3|24|06|16q22.1|VPS4A, VPS4|C|Vacuolar protein sorting 4, yeast, homolog of, A||609982|A, REc, H|||| | |8(Vps4a)|
16.417|2|9|92|16q22.2|ZNF19, KOX12|P|Zinc finger protein-19 (KOX12)||194525|A|?16q23, 19q13||| | |8(Zfp1)|
16.418|11|4|93|16q22.2|ZNF23, KOX16|P|Zinc finger protein-32 (KOX16)||194527|A|||| | |8(Zfp4)|
16.419|10|15|95|16q23.1|GLG1|P|Golgi apparatus protein 1||600753|A|||| | |8(Glg1)|
16.420|5|4|12|16q23.2|MAF, CCA4|P|v-Maf avian musculoaponeurotic fibrosarcoma oncogene homolog||177075|A|||Cataract, pulverulent or cerulean, with or without microcornea,|610202 (3) | ||
16.421|11|7|01|16q22.1|SNTB2, SNT2B2, SNTL|C|Syntrophin, beta-2||600027|REa, Psh, A|||| | |8(Sntb2)|
16.422|3|8|91|16q24.1|COX4I1, COX4|P|Cytochrome c oxidase, subunit IV, isoform 1||123864|REa|||| | ||
16.423|5|11|00|16q24.1|NOC4|P|Neighbor of Cox4||604886|REc|||| | ||
16.424|5|23|05|16q22.1|ACD, PTOP, PIP1, TINT1|P|Acd, mouse, homolog of||609377|R, REc|||| | |8(Acd)|
16.425|6|28|94|16q22.2|CALB2|P|Calbindin 2, 29kD (calretinin)||114051|REa|||| | ||
16.426|1|26|12|16q22.1|CDH1, UVO, LCAM, ECAD|C|Cadherin-1 (E-cadherin; uvomorulin)||192090|REa, D, Ch|near LCAT||Endometrial carcinoma, somatic, 608089 (3); Ovarian carcinoma,|somatic, 167000 (3); {Breast cancer, lobular}, 114480 (3); Gastric cancer, familial diffuse, with or without cleft lip and/or palate, 137215 (3);|{Prostate cancer, susceptibility to}, 176807 (3) |8(Um)|
16.427|1|23|09|16q22.1|CDH3, CDHP, PCAD, HJMD|C|Cadherin-3 (P-cadherin)||114021|H, Psh, Fd|in mouse tightly linked to ECAD||Hypotrichosis, congenital, with juvenile macular dystrophy, 601553|(3); Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3) | |8(Pcad)|
16.428|1|13|99|16q21|CDH5|P|Cadherin-5||601120|H, Psh|||| | |8(Cdh5)|
16.429|1|13|05|16q22.1|CDH16|C|Cadherin-16||603118|A, R|||| | |8(Cdh16)|
16.430|10|8|07|16q22.1|CENPT|P|Centromere protein T||611510|R, REc|||| | ||
16.431|10|3|11|16q22.1|CHTF8, CTF8|P|Chromosome transmission fidelity factor 8, S. cerevisiae, homolog of||613202|REc|||| | ||
16.432|10|12|10|16q22.1|COG4, COD1, CDG2J|P|Component of oligomeric golgi complex 4||606976|R|||Congenital disorder of glycosylation, type IIj, 613489 (3)| | ||
16.433|7|10|07|16q22.1|COG8, DOR1, CDG2H|C|Component of oligomeric golgi complex 8||606979|R, REc|||Congenital disorder of glycosylation, type IIh, 611182 (3)| | ||
16.434|2|23|09|16q22.1|CRCS9|P|Colorectal cancer, susceptibility to, 9||612590|Fd|associated with rs9929218||{Colorectal cancer, susceptibility to, 9} (2)| | ||
16.435|11|5|13|16q22.1|CTCF, MRD21|P|CCCTC-binding factor||604167|A|||Mental retardation, autosomal dominant 21, 615502 (3)| | ||
16.436|11|4|93|16q22.1|CTRL|P|Chymotrypsin-like protease||118888|REn|||| | ||
16.437|4|23|08|16q22.1|CYB5B, CYPB5M|P|Cytochrome b5, type B (outer mitochondrial membrane)||611964|REc|||| | ||
16.438|3|10|03|16q22.1|DDX28, MDDX28|P|DEAD/H box 28||607618|REc|||| | ||
16.439|3|1|06|16q22.1|DPEP2, MBD2|P|Dipeptidase 2||609925|R, REc|||| | ||
16.440|3|1|06|16q22.1|DPEP3, MBD3|P|Dipeptidase 3||609926|REc|||| | ||
16.441|12|28|08|16q22.1|DUS2L, DUS2|P|Dihydrouridine synthase 2-like||609707|R, REc|||| | ||
16.442|10|2|95|16q22.1|E2F4|P|E2F transcription factor 4, p107/p130-binding||600659|A|||| | ||
16.443|10|2|12|16q22.1|EDC4, RCD8, GE1, HEDL5|P|Enhancer of mRNA decapping 4||606030|REc, R|||| | ||
16.444|9|10|09|16q22.1|ESRP2, RBM35B|P|Epithelial splicing regulatory protein 2||612960|REc|||| | ||
16.445|9|8|11|16q22.1|EXOC3L1, EXOC3L|P|Exocyst complex component 3-like 1||614117|REc|||| | |8(Exoc3l1)|
16.446|6|1|12|16q22.1|EXOSC6, MTR3|P|Exosome component 6||606490|REc|||| | ||
16.447|8|31|12|16q22.1|FAM96B, MIP18|P|Family with sequence similarity 96, member B||614778|REc|||| | ||
16.448|6|13|12|16q22.1|FBXL8, FBL8|P|F-box and leucine-rich repeat protein 8||609077|REc|||| | ||
16.449|6|18|99|16q22.1|HAS3|P|Hyaluronan synthase 3||602428|Psh, REc|||| | |8(Has3)|
16.450|7|22|11|16q22.2|HP|C|Haptoglobin||140100|Fc|just distal to fra16q22.1||[Anhaptoglobinemia], 614081 (3); [Hypohaptoglobinemia], 614081 (3)| | |8(Hp)|
16.451|1|12|89|16q22.2|HPR|C|Haptoglobin-related locus||140210|REa|2.2kb 3' to HP; multiple tandem genes in blacks||| | ||
16.452|5|25|13|16q13|NLRC5|P|NLR family, caspase recruitment domain-containing 5||613537|REc|||| | ||
16.453|6|25|08|16q22.1|IL34, C16orf77|P|Interleukin 34||612081|REc|||| | ||
16.454|5|29|02|16q22.1|LCAT|C|Lecithin-cholesterol acyltransferase||606967|F, LD, A, REa|very close to HP||Norum disease, 245900 (3); Fish-eye disease, 136120 (3)| | |8(Lcat)|
16.455|5|16|05|16q22.1|LYPLA3, LLPL, ACS, LPLA2|P|Lysophospholipase 3||609362|R, REc|||| | ||
16.456|11|4|93|16q22.1|MECL1, LMP10, PSMB10|P|Proteosome subunit MECL1||176847|REn|3.1kb from LCAT||| | |8(Psmb10)|
16.457|3|23|09|16q22.1|MIR140, MIRN140|P|Micro RNA 140||611894|REc|||| | ||
16.458|1|20|11|16q22.1|MIR328, MIRN328|P|Micro RNA 328||613701|REc|||| | ||
16.459|5|25|13|16q22.1|NFAT5, KIAA0827, NFATL1, TONEBP|P|Nuclear factor of activated T cells 5||604708|REc|||| | ||
16.460|9|24|08|16q22.1|NQO1, DIA4, NMOR1|C|NAD(P)H dehydrogenase, quinone 1|(diaphorase-4)|125860|S, REa, Ch|||{Benzene toxicity, susceptibility to} (3); {Leukemia,|post-chemotherapy, susceptibility to} (3); {Breast cancer, poor survival after chemotherapy for} (3)| |8(Nmor1)|
16.461|12|10|13|16q22.1|PDP2, KIAA1348|P|Pyruvate dehydrogenase phosphatase catalytic subunit 2||615499|R, REc|||| | ||
16.462|11|3|09|16q22.1|PLEKHG4|P|Pleckstrin homology domain containing, family G (puratrophin 1)||609526|REc|||| | ||
16.463|4|25|12|16q22.1|PRMT7, KIAA1933|P|Protein arginine N-methyltransferase 7||610087|REc|||| | ||
16.464|10|27|93|16q22.1|PSKH1|P|Putative serine kinase H1||177015|REn|||| | ||
16.465|9|8|11|16q22.1|RANBP10, KIAA1464|P|Ran-binding protein 10||614031|REc|||| | ||
16.466|10|13|97|16q22.1|SCA4|C|Spinocerebellar ataxia 4||600223|Fd|||Spinocerebellar ataxia 4 (2)| | ||
16.467|6|5|12|16q22.1|SF3B3, SF3B130, SAP130|P|Splicing factor 3B, subunit 3||605592|R, REc|||| | ||
16.468|6|27|95|16q22.1|SLC9A5, NHE5|P|Solute carrier family 9 (sodium/hydrogen exchanger), member 5||600477|REa, A, Fd|||| | ||
16.469|8|17|99|16q22.1|SLC12A4, KCC1|P|Solute carrier family 12 (potassium/chloride transporters), member 4||604119|REn|||| | ||
16.470|6|22|99|16q22.1|TERF2, TRF2|P|Telomeric repeat-binding factor-2||602027|Psh, R|||| | |8(Terf2)|
16.471|9|30|13|16q22.1|THAP11, RONIN|P|THAP domain-containing protein 11||609119|REc|||| | ||
16.472|9|24|08|16q22.1-q22.2|VAC14, TAX1BP2, TRX|P|Vac14, S. cerevisiae, homolog of||604632|R, REc|||| | ||
16.473|6|30|05|16q22.1|ZFP90, NK10, KIAA1954|P|Zinc finger protein 90, mouse, homolog of||609451|REc, H|||| | |8(Zfp90)|
16.474|5|21|07|16q24.3|TRAPPC2L|P|Trafficking protein particle complex 2-like||610970|REc|||| | ||
16.475|9|17|09|16q22.2|TAT|C|Tyrosine aminotransferase, soluble||613018|REa, A, H, D|||Tyrosinemia, type II, 276600 (3)| | |8(Tat)|
16.476|12|7|07|16q22.1-q23.1|OTSC4|P|Otosclerosis 4||611571|Fd|between D16S3107 and D16S3097||{Otosclerosis 4} (2)| | ||
16.477|12|7|04|16q22.2|PKD1L3|P|Polycystin 1-like 3||607895|REc|||| | |8(Pkd1l3)|
16.478|10|24|11|16q22.2|ATXN1L, BOAT1|P|Ataxin 1-like (brother of ataxin 1)||614301|REc|||| | ||
16.479|10|25|12|16q22.2|HYDIN, HYDIN1, CILD5|C|Hydin, mouse, homolog of||610812|REc, H, Fd|duplicated copy on 1q21.1||Ciliary dyskinesia, primary, 5, 608647 (3)| | |8(Hydin)|
16.480|7|22|11|16q22.2|MARVELD3|P|Marvel domain-containing protein 3||614094|REc|||| | ||
16.481|6|18|01|16q23.1|ADAT1|P|Adenosine deaminase, tRNA-specific, 1||604230|R|||| | ||
16.482|1|27|04|16q23.1|CFDP1, CP27, BCNT|C|Craniofacial development protein 1||608108|REc, Psh, A|||| | ||
16.483|9|9|13|16q23.1|KARS, CMTRIB, DFNB89|C|Lysyl-tRNA synthetase||601421|Psh, A, R|||Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3);|Deafness, autosomal recessive 89, 613916 (3) | ||
16.484|8|21|07|16q22.2|PHLPPL, PHLPP2|P|PH domain and leucine-rich repeat protein phosphatase-like||611066|REc|||| | ||
16.485|9|20|04|16q22.3-q23.1|KTCN2|P|Keratoconus 2||608932|Fd|||Keratoconus 2 (2)| | ||
16.486|2|28|03|16q23.1|GABARAPL2|P|GABA-A receptor-associated protein-like protein 2||607452|R|||| | ||
16.487|11|25|08|16q22.2-q22.3|ZFHX3, ATBF1|C|Zinc finger homeobox 3||104155|A, D|||{Prostate cancer, susceptibility to}, 176807 (3)| | |8(Atbf1)|
16.488|11|11|13|16q23.1|ADAMTS18, MMCAT|P|A disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 18|607512|REc|||Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458|(3) | ||
16.489|9|18|00|16q22.2|AP1G1, ADTG, CLAPG1|P|Adaptor-related protein complex 1, gamma 1 subunit (adaptin, gamma)||603533|A, Psh|||| | ||
16.490|5|4|09|16q23|BMND13|P|Bone mineral density quantitative trait locus 13||612727|Fd|associated with rs16945612||[Bone mineral density QTL 13] (2)| | ||
16.491|5|23|11|16q23.1|FA2H, FAAH, FAXDC1, FAH1, SCS7, SPG35|P|Fatty acid 2-hydroxylase||611026|R, REc|||Spastic paraplegia 35, autosomal recessive, 612319 (3)| | |8(Fa2h)|
16.492|2|2|11|16q23|HSCR8|P|Hirschsprung disease, susceptibility to, 8||608462|LD|||{Hirschsprung disease, susceptibility to, 8} (2)| | ||
16.493|8|24|98|16q23.1|PSMD7, MOV34|P|Proteasome 25S subunit, non-ATPase, 7 (Moloney leukemia virus-34|proviral integration homolog)|157970|REa, A|||| | |8(Mov34)|
16.494|5|25|00|16q23.1|BCAR1, CRKAS, CAS|P|Breast cancer antiestrogen resistance 1||602941|A, Psh|||| | ||
16.495|4|8|13|16q23.1|MLKL|P|Mixed lineage kinase domain-like protein||615153|REc|||| | ||
16.496|6|7|10|16q23.1|MON1B, SRG1, KIAA0872|P|Mon1, S. cerevisiae, homolog of, B||608954|REc|||| | ||
16.497|8|8|11|16q23.1|RFWD3|P|RING finger and WD repeat domains-containing protein 3||614151|REc|||| | ||
16.498|6|24|10|16q23.1|TERF2IP, RAP1|P|Telomeric repeat binding factor 2, interacting protein||605061|R, REc|||| | ||
16.499|9|9|13|16q23.1|TMEM231, JBTS20, MKS11|P|Transmembrane protein 231||614949|REc|||Joubert syndrome 20, 614970 (3); Meckel syndrome, type 11, 615397|(3) | ||
16.500|6|10|08|16q23.1|ZNRF1, NIN283|P|Zinc finger and ring finger protein 1||612060|REc|||| | ||
16.501|7|20|12|16q23.2|ATMIN, ASCIZ, KIAA0431|C|ATM interactor||614693|R, REc|||| | ||
16.502|10|8|07|16q23.2|CENPN|P|Centromere protein N||611509|REc|||| | ||
16.503|6|21|91|16q23.1|CTRB1|C|Chymotrypsinogen B1||118890|REa, H, D, Fd, Ch|HP-7cM-TAT-9cM-CTRB||| | |8(Ctrb)|
16.504|3|7|05|16q23.2-q24.2|FHASD|P|Foveal hypoplasia and anterior segment dysgenesis||609218|Fd|||Foveal hypoplasia and anterior segment dysgenesis (2)| | ||
16.505|3|31|11|16q23.3|ADIPQTL5|P|Adiponectin, serum level of, quantitative trait locus 5||613836|Fd|associated with rs3865188||{Adiponectin, serum level of, QTL5] (2)| | ||
16.506|2|21|06|16q23.2|DYNLRB2, DNCL2B|P|Dynein, light chain, roadblock-type 2||607168|REc|||| | ||
16.507|1|6|14|16q23.3|SLC38A8|P|Solute carrier family 38 (amino acid transporter), member 8||615585|REc|||| | ||
16.508|8|15|02|16q23.1-q23.2|WWOX, FOR|C|WW domain-containing oxidoreductase||605131|REc, H, Ch|||Esophageal squamous cell carcinoma, 133239 (3)| | |8(Wox1, Fra8E1)|
16.509|9|10|98|16q24.3|AFG3L1, AFG3|P|ATPase family gene 3, yeast, homolog of||603020|A, R|||| | ||
16.510|10|30|07|16q24.2|BANP, SMAR1|P|BTG3-associated nuclear protein||611564|A|||| | |8(Banp)|
16.511|6|15|99|16q24.3|CBFA2T3, MTGR2, MTG16|C|Core-binding factor, alpha subunit 2, translocated to, 3||603870|R, A|||| | ||
16.512|6|18|99|16q24.3|CDK10, PISSLRE|P|Cyclin-dependent kinase 10||603464|RE|||| | ||
16.513|2|13|09|16q23.2-q23.3|CMIP, KIAA1694, TCMIP|C|C-MAF-inducing protein||610112|R, REc|||| | ||
16.514|7|9|90|16q24.3|CYBA|C|Cytochrome b-245, alpha polypeptide||608508|REa, A|||Chronic granulomatous disease, autosomal, due to deficiency of CYBA,|233690 (3) | ||
16.515|8|18|09|16q24.1|FOXF1, FKHL5, ACDMPV|P|Forkhead box F1||601089|A|||Alveolar capillary dysplasia with misalignment of pulmonary veins,|265380 (3) | |8(Foxf1)|
16.516|8|29|01|16q23.2|GCSH, NKH|P|Glycine cleavage system H protein||238330|A|||Glycine encephalopathy, 605899 (3)| | ||
16.517|4|5|00|16q24.3|IL17C|P|Interleukin 17C||604628|R|||| | ||
16.518|4|4|01|16q23.3|MBTPS1, S1P|C|Membrane-bound transcription factor protease, site 1||603355|REa, A, R|||| | ||
16.519|3|26|02|16q23.3|MLYCD, MCD|P|Malonyl-CoA decarboxylase||606761|R, Psh|||Malonyl-CoA decarboxylase deficiency, 248360 (3)| | ||
16.520|9|3|10|16q24|STQTL22|P|Stature quantitative trait locus 22||613547|Fd|linked to rs299956 and rs2076962||{Stature QTL 22} (2)| | ||
16.521|2|1|01|16q24.1|TAF1C, TAFI110, SL1|C|TATA box-binding protein-associated factor 1C||604905|R, A|||| | ||
16.522|4|21|10|16q24.1|USP10, KIAA0190|P|Ubiquitin-specific protein 10||609818|R, REc|||| | ||
16.523|6|11|08|16q24.2|ZNF469, KIAA1858, BCS|C|Zinc finger protein 469||612078|Fd, R, REc|||Brittle cornea syndrome, 229200 (3)| | ||
16.524|10|13|09|16q24.1|ATP2C2, SPCA2, KIAA0703|P|ATPase, Ca(2+)-transporting, type 2C, member 2||613082|R, REc|||| | ||
16.525|2|1|11|16q24.1|COTL1, CLP|P|Coactosin-like protein 1||606748|R, Psh, REc|pseudogenes on 15, 17, and Y||| | ||
16.526|12|4|08|16q24.1|CRISPLD2|P|Cysteine-rich secretory protein, LCCL domain-containing, 2||612434|REc|||| | ||
16.527|1|15|13|16q24.1|FOXF1AS1, TCONS_00024240|P|FOXF1 antisense RNA 1, noncoding||614975|REc|partial overlap with FOXF1 promoter||| | ||
16.528|5|4|09|16q24.1|FOXL1, FKHL11, FREAC7, FKH6|P|Forkhead box L1||603252|REc|||| | |8(Foxl1)|
16.529|11|2|00|16q23.2|GAN, GAN1|C|Gigaxonin||605379|Fd, LD, REc|||Giant axonal neuropathy-1, 256850 (3)| | ||
16.530|11|30|06|16q24.1|GINS2, PSF2|P|GINS complex subunit 2||610609|R, REc|||| | ||
16.531|4|23|03|16q24.1|HDLC3|P|High density lipoprotein cholesterol, low serum, 3||607687|Fd|||{High density lipoprotein cholesterol, low serum, 3} (2)| | ||
16.532|8|2|13|16q24.1|IRF8, ICSBP1|P|Interferon regulatory factor 8||601565|REc|||Monocyte and dendritic cell deficiency, recessive, 614894 (3);|CD11C+/CD1C+ dendritic cell deficiency, dominant, 614893 (3) | ||
16.533|3|10|03|16q24.1|KCNG4, KV6.3, KV6.4|P|Potassium channel, voltage-gated, subfamily G, member 4||607603|REc|||| | ||
16.534|12|17|07|16q24.1|KIAA0513|P|KIAA0513 gene||611675|R, REc|||| | ||
16.535|12|30|09|16q23.3-q24.1|LRRC50, ODA7, CILD13|P|Leucine-rich repeat-containing protein 50||613190|REc|||Ciliary dyskinesia, primary, 13, 613193 (3)| | ||
16.536|10|25|12|16q23.3|PLCG2, FCAS3, APLAID|P|Phospholipase C, gamma 2 (phosphatidylyinositol-specific)||600220|Psh|||Familial cold autoinflammatory syndrome 3, 614468 (3);|Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)| |8(Plcg2)|
16.537|1|14|13|16q24.1|TCONS00024492|P|Long noncoding RNA TCONS_00024492||614978|REc|||| | ||
16.538|1|14|13|16q24.1|TCONS00024764|P|Long noncoding RNA TCONS_00024764||614977|REc|||| | ||
16.539|4|27|12|16q24.1|ZDHHC7, DHHC7|P|Zinc finger DHHC domain-containing protein 7||614604|REc|||| | ||
16.540|7|11|95|16q23.3|HSD17B2, EDH17B2|C|Hydroxysteroid (17-beta) dehydrogenase 2||109685|A, Fd|||| | ||
16.541|11|13|12|16q24.1-q24.3|POROK7|P|Porokeratosis 7||614714|Fd|max lod at D16S3074||Porokeratosis 7 (2)| | ||
16.542|3|15|13|16q24.2|MAP1LC3B, LC3B|P|Microtubule-associated protein 1, light chain 3, beta||609604|R, REc|||| | ||
16.543|1|13|99|16q23.3|CDH13, CDHH|P|Cadherin-13 (H-cadherin, heart)||601364|A|||| | ||
16.544|10|1|11|16q24.3|ACSF3|P|Acyl-CoA synthetase family member 3||614245|REc|||Combined malonic and methylmalonic aciduria, 614265 (3)| | ||
16.545|9|21|11|16q24.3|ANKRD11, ANCO1, KBGS|P|Ankyrin repeat domain-containing protein 11||611192|REc|||KBG syndrome, 148050 (3)| | ||
16.546|9|21|12|16q24.3|APRT, APRTD|C|Adenine phosphoribosyltransferase||102600|S, D, REn|telomeric to GALNS, transcribed in same cen-tel direction||Adenine phosphoribosyltransferase deficiency, 614723 (3)| | |8(Aprt)|
16.547|1|8|01|16q24.3|C16orf3, EID1|P|E1A-like inhibitor of differentiation 1||605179|REc|||| | ||
16.548|2|18|96|16q24.2|CA5|C|Carbonic anhydrase V (mitochondrial)||114761|Psh, A|pseudogene on 16p||| | |8(Car5)|
16.549|2|17|09|16q24.3|CDH15, CDH14, CDH3, MRD3|P|Cadherin-15, M-cadherin (myotubule)||114019|REa, Psh|tightly linked to Aprt in mouse||Mental retardation, autosomal dominant 3, 612580 (3)| | |8(Cdh3)|
16.550|3|15|11|16q24.3|CDT1|C|Chromatin licensing and DNA replication factor 1||605525|REc|||Meier-Gorlin syndrome 4, 613804 (3)| | ||
16.551|12|15|12|16q24.3|CHMP1A, PCOLN3, PRSM1, PCH8|P|CHMP family, member 1A||164010|Psh, REa|||Pontocerebellar hypoplasia, type 8, 614961 (3)| | ||
16.552|2|28|01|16q24.3|CPNE7|P|Copine VII||605689|D|||| | ||
16.553|4|25|93|16q24.3|DPEP1, RDP, MDP, MBD1|C|Dipeptidase 1||179780|A, REa, Fd|||| | ||
16.554|1|27|03|16q24.3|FANCA, FACA, FA1, FA, FAA|C|Fanconi anemia, complementation group A||607139|Fd, LD|linkage heterogeneity||Fanconi anemia, complementation group A, 227650 (3)| | |8(Fanca)|
16.555|3|13|06|16q24.2|FBXO31, FBX31, FBXO14, FBX14|P|F-box only protein 31||609102|REc|||| | |8(Fbxo31)|
16.556|6|27|08|16q24.1|FOXC2, FKHL14, MFH1|C|Forkhead box C2||602402|A, Fd, Ch|||Lymphedema-distichiasis syndrome, 153400 (3); Lymphedema-distichiasis|syndrome with renal disease and diabetes mellitus, 153400 (3) | |8(Mfh1)|
16.557|9|18|08|16q24.3|GALNS, MPS4A|C|Galactosamine (N-acetyl)-6-sulfate sulfatase||612222|A, Psh, REn|centromeric to APRT||Mucopolysaccharidosis IVA, 253000 (3)| | ||
16.558|1|15|09|16q24.3|GAS8, GAS11|P|Growth arrest-specific 8||605178|REc|||| | ||
16.559|1|24|09|16q24.3|IHPS5|P|Pyloric stenosis, infantile hypertrophic, 5||612525|Fd|between rs7197068 and rs750740||Pyloric stenosis, infantile hypertrophic, 5 (2)| | ||
16.560|11|13|01|16q24.2|JPH3, JP3, HDL2|C|Junctophilin 3||605268|A|||Huntington disease-like 2, 606438 (3)| | ||
16.561|11|30|11|16q24.3|MC1R, SHEP2, CMM5|C|Melanocortin-1 receptor (alpha melanocyte-stimulating hormone|receptor)|155555|A|||[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3);|[Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3); [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3); {UV-induced|skin damage}, 266300 (3); {Albinism, oculocutaneous, type II, modifier of}, 203200 (3); {Melanoma, cutaneous malignant, 5}, 613099 (3)|8(Mc1r)|
16.562|6|29|12|16q24.3|MVD, MPD|P|Mevalonate pyrophosphate decarboxylase||603236|REc|||| | ||
16.563|4|27|12|16q24.3|PGN, SPG7, CMAR, CAR|P|Paraplegin||602783|Fd, REc|||Spastic paraplegia 7, autosomal recessive, 607259 (3)| | ||
16.564|7|12|13|16q24.3|PIEZO1, FAM38A, MIB, DHS|P|PIEZO1 ion channel||611184|REc|||Dehydrated hereditary stomatocytosis with or without|pseudohyperkalemia and/or perinatal edema, 194380 (3) | ||
16.565|4|10|11|16q24.3|RPL13, BBC1, D16S44E|P|Ribosomal protein L13||113703|REc|||| | ||
16.566|2|19|99|16q24.2|SLC7A5, D16S469E, MPE16|P|Solute carrier family 7, member 5||600182|REa|||| | ||
16.567|5|5|09|16q24.3|SNAI3, SNAIL3, SMUC, ZFP293|P|SNAIL, Drosophila, homolog of, 3||612741|REc|||| | ||
16.568|9|23|13|16q24.3|SPATA33, C16orf55|P|Spermatogenesis-associated protein 33||615409|REc|||| | ||
16.569|10|7|08|16q24.3|TCF25, NULP1, KIAA1049|C|Transcription factor 25||612326|R, REc|||| | ||
16.570|9|23|13|16q24.3|TUBB3, TUBB4, CFEOM3A, CDCBM1|P|Tubulin, beta-3||602661|REc|||Fibrosis of extraocular muscles, congenital, 3A, 600638 (3);|Cortical dysplasia, complex, with other brain malformations 1, 614039 (3) | ||
16.571|10|13|00|16q24.1|WFDC1, PS20|C|WAP four-disulfide core domain-1, mouse, homolog of||605322|A|||| | ||
16.572|2|16|04|16q24.3|ZFP276|P|Zinc finger protein 276||608460|REn|||| | ||
16.573|2|28|03|16q24.2|ZFPM1, FOG, FOG1|P|Zinc finger protein, multitype 1|(friend of GATA1)|601950|REc|||| | ||
16.574|2|6|01|16q12.2|CPSF5, CFIM25|P|Cleavage and polyadenylation specificity factor 5||604978|R|||| | ||
16.575|8|27|01|16q22.1|DDX19, DBP5|P|DEAD/H box 19||605812|R|||| | ||
16.576|9|30|02|16p12.2|EEF2K|P|Elongation factor 2 kinase||606968|R|||| | ||
16.577|11|2|01|16q22.1|ELMO3|P|Engulfment and cell motility gene 3||606422|REc|||| | ||
16.578|10|23|87|Chr.16|ESB3|P|Esterase-B3||133290|S|||| | |8(Es6)|
16.579|6|14|95|Chr.16|GRLL1|P|Glucocorticoid receptor-like 1||138060|REb|||| | ||
16.580|8|21|91|Chr.16|IFNR|P|Interferon production regulator||147573|REa, S|||| | ||
16.581|1|27|03|16q23.1|LDHD|P|D-lactate dehydrogenase||607490|R|||| | ||
16.582|10|23|87|Chr.16|LIPB|P|Lipase B, lysosomal acid||247980|S|||| | ||
16.583|1|30|01|16q23.3|MPHOSPH6, MPP|P|M-phase phosphoprotein 6||605500|R|||| | ||
16.584|7|11|01|16p13.3|MSLN|P|Mesothelin||601051|R|||| | ||
16.585|8|30|01|16q12.2|MT4, MTIV|P|Metallothionein 4||606206|A|||| | |8(Mt4)|
16.586|9|3|02|16q22.1|NFATC3|P|Nuclear factor of activated T cells, cytoplasmic,|calcineurin-dependent 3|602698|R|||| | ||
16.587|10|23|87|Chr.16|NHCP1|P|Nonhistone chromosomal protein-1||118870|S|||| | ||
16.588|2|15|01|16q22.1|SLC7A6|P|Solute carrier family 7 (y+L-type amino acid transporter), member 6||605641|R|||| | ||
16.589|9|25|01|16p13.3|SRRM2, SRM300, KIAA0324|C|Serine/arginine repetitive matrix 2 (ser/arg-rich splicing|factor-related nuclear matrix protein, 300kD)|606032|R, REc|||| | ||
16.590|9|2|09|1p36.13|TRNAG1, TRG1|P|tRNA glycine-1||189911|REa|||| | ||
16.591|7|17|91|Chr.16|VDI, DIPI|P|Vesicular stomatitis virus defective interfering|particle repressor|125260|S|||| | ||
16.592|2|25|02|16p11.2|ZNF267, HZF2|P|Zinc finger protein-167||604752|R|||| | ||
17.1|8|15|03|17p13.2|ASPA|C|Aspartoacylase (aminoacylase-2)||608034|A|||Canavan disease, 271900 (3)| | ||
17.2|8|17|09|17p13.2|ENO3, GSD13|C|Enolase-3, beta, muscle||131370|REa, A|||Glycogen storage disease XIII, 612932 (3)| | ||
17.3|1|24|09|17p13.2|GP1BA, BSS, BDPLT1, VWDP, BDPLT3|C|Glycoprotein Ib, platelet, alpha polypeptide||606672|A|||Bernard-Soulier syndrome, type A1 (recessive), 231200 (3);|{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3); Bernard-Soulier syndrome, type A2 (dominant), 153670 (3); von Willebrand|disease, platelet-type, 177820 (3) ||
17.4|12|21|09|17p13.3|PLI, SERPINF2|P|Alpha-2-plasmin inhibitor||613168|Psh|||Alpha-2-plasmin inhibitor deficiency, 262850 (3)| | ||
17.5|10|12|90|17p13.2|ZFP3|P|Zinc finger protein-3||194480|REa|probably in cluster with ZNF29 proximal to TP53||| | |11(Zfp3)|
17.6|3|26|95|17p13.3|ABR|C|Active BCR-related gene||600365|A|||| | ||
17.7|5|12|99|17p13.2|ALOX15|P|Arachidonate 15-lipoxygenase||152392|Psh|||| | |11(Alox15)|
17.8|8|12|98|17p13.2|ATP2A3, SERCA3|P|ATPase, Ca(2+)-transporting, ubiquitous||601929|A|||| | ||
17.9|1|23|96|17p13.3|BCPR|P|Breast cancer-related regulator of TP53||113721|D|||Breast cancer (1)| | ||
17.10|9|23|13|17p13.3|BHLHA9, BHLHF42|P|Basic helix-loop-helix family, member A9||615416|REc|||| | ||
17.11|7|15|99|17p13.2|C1QBP, HABP1|C|Complement component C1q binding protein (hyaluronic acid-binding|protein 1)|601269|A, Psh|||| | ||
17.12|11|4|93|17p13.3|CRK|P|Avian sarcoma virus CT10 (v-crk) oncogene homolog||164762|A|||| | ||
17.13|1|12|07|17p13.3|DOC2B|P|Double C2-like domain-containing protein, beta||604568|REc|||| | ||
17.14|8|21|07|17p13.3|DPH1, DPH2L1, OVCA1|P|DPH1, S. cerevisiae, homolog of|(ovarian cancer gene 1)|603527|REf|||| | ||
17.15|5|13|10|17p13.3|MDLS, MDS, MDCR, DEL17p13.3, C17DELp13.3|P|Miller-Dieker lissencephaly syndrome (chromosome 17p13.3 deletion|syndrome)|247200|Ch|||Miller-Dieker lissencephaly syndrome (4)| | ||
17.16|2|19|10|17p13.3|DUP17p13.3, C17DUPp13.3|P|Chromosome 17p13.3 duplication syndrome||613215|Ch|includes LIS1 and/or YWHAE||Chromosome 17p13.3 duplication syndrome (4)| | ||
17.17|2|6|08|17p13.3|FAM57A, CT120|P|Family with sequence similarity 57, member A||611627|REc|||| | ||
17.18|6|16|99|17p13.1|GLP2R|P|Glucagon-like peptide 2 receptor||603659|A|||| | ||
17.19|6|4|99|17p13.3|HIC1|C|Hypermethylated in cancer||603825|A, H|||| | |11(Hic1)|
17.20|3|23|09|17p13.3|MIR22, MIRN22|P|Micro RNA 22||612077|REc|||| | ||
17.21|3|23|09|17p13.3|MIR132, MIRN132|P|Micro RNA 132||610016|REc|||| | ||
17.22|7|16|10|17p13.3|MIR212, MIRN212|P|Micro RNA 212||613487|REc|||| | ||
17.23|9|18|98|17p13.3|MNT, ROX|P|MAX-binding protein||603039|REc|||| | |11(Mnt)|
17.24|5|11|00|17p13.2|MYBBP1A, P160|P|MYB-binding protein 1A||604885|A, R|||| | |11(Mybbp1a)|
17.25|7|22|09|17p13.3|NXN|P|Nucleoredoxin||612895|REc|||| | |11(Nxn)|
17.26|8|24|98|17p13.3|OR1D2, OLFR1|C|Olfactory receptor, family 1, subfamily D, member 2||164342|A, Fd, REa|cluster of 16 genes in 350kb||| | ||
17.27|1|13|06|17p13.2|P2RX1, P2X1|P|Purinergic receptor P2X, ligand-gated ion channel, 1||600845|A, H|||Bleeding disorder due to P2RX1 defect (3)| | |11(P2rx1)|
17.28|1|3|03|17p13.3|PAFAH1B1, LIS1|C|Platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit||601545|Ch, RE, D|||Lissencephaly 1, 607432 (3); Subcortical laminar heterotopia, 607432|(3) | ||
17.29|9|10|12|17p13.2|PFN1, ALS18|P|Profilin-1||176610|REa, A, D|||Amyotrophic lateral sclerosis 18, 614808 (3)| | |11(Pfn1)|
17.30|9|7|10|17p13.3|PITPNA, PITPN|P|Phosphotidylinositol transfer protein, alpha||600174|Psh, A|||| | |11(Pitpn)|
17.31|2|28|03|17p13.3|PRPF8, PRPC8, RP13|C|Precursor mRNA-processing factor 8, S. cerevisiae, homolog of||607300|Fd, REc|||Retinitis pigmentosa 13, 600059 (3)| | ||
17.32|2|17|09|17p13.3|RNMTL1, HC90|P|RNA methyltransferase-like 1||612600|REc|||| | ||
17.33|4|11|94|17p13.3|RPA1|P|Replication protein A1, 70kD||179835|Psh, R, A|||| | ||
17.34|7|14|00|17p13.3|RPH3AL, NOC2|P|Rabphilin 3A-like||604881|REc|||| | ||
17.35|5|24|13|17p13.3|RTN4RL1, NGRH2, NGR3|P|Reticulon 4 receptor-like 1||610461|REc|||| | ||
17.36|3|13|08|17p13.3|SCARF1, SREC, KIAA0149|P|Scavenger receptor class F, member 1||607873|R, REc|||| | ||
17.37|2|2|12|17p13.3|SERPINF1, PEDF, OI6|C|Serpin peptidase inhibitor, clade F, member 1||172860|REa, A, Psh|same region as RP13||Osteogenesis imperfecta, type VI, 613982 (3)| | ||
17.38|9|24|11|17p13.3|SGSM2, KIAA0397|P|Small G protein signaling modulator 2||611418|REc, R|||| | ||
17.39|10|20|99|17p13.2|SLC25A11, SLC20A4, OGC|P|Solute carrier family 25 (mitochondrial carrier; oxoglutarate|carrier), member 11|604165|A|||| | ||
17.40|3|8|07|17p13.3|SLC43A2, LAT4|P|Solute carrier family 43 (L-type amino acid transporter, member 2||610791|REc|||| | ||
17.41|5|21|07|17p13.3|SMG6, EST1A, KIAA0732|P|SMG6, C. elegans, homolog of||610963|REc|||| | ||
17.42|12|27|01|17p13.3|SRR|P|Serine racemase||606477|R|||| | ||
17.43|9|16|13|17p13.3|TIMM22, TIM22|P|Translocase of inner mitochondrial membrane 22, yeast, homolog of||607251|R, REc|||| | ||
17.44|1|8|01|17p13.2|TM4SF5|P|Transmembrane 4 superfamily, member 5||604657|REa, R|||| | ||
17.45|12|14|98|17p13.1|TNFSF12, TWEAK, APO3L, DR3LG|C|Tumor necrosis factor ligand superfamily, member 12||602695|R|||| | ||
17.46|5|24|13|17p13.3|TSR1, KIAA1401|P|TSR1, 20S r RNA accumulation, S. cerevisiae, homolog of||611214|REc, R|||| | ||
17.47|9|2|08|17p13.3|TUSC5, LOST1|P|Tumor suppressor candidate 5||612211|REc|||| | ||
17.48|6|4|12|17p13.3|WDR81, CAMRQ2|P|WD repeat-containing protein 81||614218|REc|||Cerebellar ataxia, mental retardation, and dysequilibrium|syndrome 2, 610185 (3) | |11(Wdr81)|
17.49|5|13|10|17p13.3|YWHAE, MDCR, MDS|C|Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation|protein, epsilon isoform|605066|A, R, Ch, D|||| | |11(Ywhae)|
17.50|2|17|09|17p13.3-p13.1|SHFLD3|P|Split-hand/foot malformation with long bone deficiency 3||612576|Fd|max lod at or near D17S1533||Split-hand/foot malformation with long bone deficiency 3 (2)| | ||
17.51|10|8|07|17p13.2|CAMTA2, KIAA0909|P|Calmodulin-binding transcription actovator 2||611508|R, REc|||| | ||
17.52|5|24|13|17p13.2|DERL2|P|DER1-like domain family, member 2||610304|REc|||| | ||
17.53|1|1|12|17p13.2|DHX33|P|DEAH box polypeptide 33||614405|REc|||| | ||
17.54|9|9|08|17p13.1|FBXO39, FBX39|P|F-box protein 39||609106|REc|||| | |11(Fbxo39)|
17.55|10|9|08|17p13.2|GGT6|P|Gamma-glutamyltransferase 6||612341|REc|||| | ||
17.56|1|12|11|17p13.1|HES7, SCDO4|P|Hairy/enhancer of split, Drosophila, homolog of, 7||608059|H, REc|||Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)| | |11(Hes7)|
17.57|1|24|06|17p13.1|KCTD11, REn|C|Potassium channel tetramerization domain-containing protein 11||609848|REc, H|||| | |11(Kcntd11)|
17.58|7|20|12|17p13.2|KIF1C, LTXS1, KIAA0706|P|Kinesin family member 1C||603060|REc|||| | ||
17.59|11|7|08|17p13.2|MED11|P|Mediator complex subunit 11||612383|REc|||| | ||
17.60|5|24|13|17p13.2|RNF167, RING105|P|RING finger protein 167||610431|R, REc|||| | ||
17.61|1|1|12|17p13.2|SCIMP, C17orf87|P|SLP adaptor- and CSK-interacting membrane protein||614406|REc|||| | ||
17.62|1|31|13|17p13.2|SLC52A1, GPR172B, GPCR42, PAR2, FLJ10060, RBFVD|P|Solute carrier family 52, riboflavin transporter, member 1||607883|REc, R|||Riboflavin deficiency, 615026 (3)| | ||
17.63|8|19|13|17p13.2|SPAG7|P|Sperm-associated antigen 7||610056|REc|||| | ||
17.64|2|17|09|17p13.2|SPNS2|P|Spinster, Drosophila, homolog of, 2||612584|REc|||| | ||
17.65|1|2|08|17p13.2|SPNS3|P|Spinster, Drosophila, homolog of, 3||611701|REc|||| | |11(Spns3)|
17.66|4|20|11|17p13.2|UBE2G|C|Ubiquitin-conjugating enzyme E2G (UBC7, C. elegans, homolog of)||601569|R, REc|possible pseudogene on 1q42||| | ||
17.67|5|7|03|17p13.1|XAF1|P|XIAP-associated factor 1||606717|A|||| | ||
17.68|10|25|11|17p13.2|ZMYND15|P|Zinc finger MYND-containing protein 15||614312|REc, H|||| | |11(Zmynd15)|
17.69|11|19|11|17p13.2-p13.1|MRT33|P|Mental retardation, autosomal recessive 33||614341|Fd|between rs1367950 and rs1826925||Mental retardation, autosomal recessive 33 (2)| | ||
17.70|4|3|09|17p13.2|AIPL1, LCA4|C|Arylhydrocarbon-interacting receptor protein-like 1||604392|Fd, REc, A, R|LCA1 due to GUCY2D mutation also on 17p13.1||Leber congenital amaurosis 4, 604393 (3); Retinitis pigmentosa,|juvenile, 604393 (3); Cone-rod dystrophy, 604393 (3) | ||
17.71|1|25|93|17p13.1|ALOX12|C|Arachidonate 12-lipoxygenase||152391|Psh|pseudogene also on chr.17||| | ||
17.72|1|18|13|17p13.1|ALOX12B, ARCI2|C|Archidonate 12-lipoxygenase, R type||603741|A, REc|||Ichthyosis, congenital, autosomal recessive 2, 242100 (3)| | ||
17.73|5|25|13|17p13.1|ALOX15B|P|Arachidonate 15-lipoxygenase, second type||603697|REc|||| | ||
17.74|1|18|13|17p13.1|ALOXE3, ARCI3|P|Arachidonate lipoxygenase 3||607206|Fd|||Ichthyosis, congenital, autosomal recessive 3, 606545 (3)| | ||
17.75|3|9|04|17p13.1|ARGEF15, KIAA0915|P|Rho guanine nucleotide exchange factor 15||608504|R, REc|||| | ||
17.76|11|2|04|17p13.1|BCL6B, BAZF|P|B-cell lymphoma 6B||608992|A|||| | ||
17.77|5|8|12|17p13.1|CTC1, CRMCC, C17orf68, AAF132|P|Conserved telomere maintenance component 1||613129|REc|||Cerebroretinal microangiopathy with calcifications and cysts,|612199 (3) | |11(Aaf132)|
17.78|10|4|12|17p13.1|CTDNEP1, DULLARD|P|C-terminal domain nuclear envelope phosphatase 1||610684|REc|||| | ||
17.79|9|9|10|17p13.1|CLEC10A, CLECSF14, MGL, HML, CD301|P|C-type lectin domain family 10, member A||605999|REc|||| | ||
17.80|3|24|11|17p13.1|DEL17p13.1, C17DELp13.1|P|Chromosome 17p13.1 deletion syndrome||613776|Ch|contiguous gene deletion syndrome||Chromosome 17p13.1 deletion syndrome (4)| | ||
17.81|6|24|02|17p13.1|DLG4, PSD95, SAP90|P|Discs large, Drosophila, homolog of, 4||602887|R|||| | ||
17.82|3|7|13|17p13.1|ELP5, DERP6, C17orf81|P|Elongator acetyltransferase complex, subunit 5||615019|REc|||| | ||
17.83|10|17|00|17p13.1|FXR2|P|Fragile X mental retardation, autosomal homolog-2||605339|REc|||| | ||
17.84|4|14|10|17p13.1|GABARAP|P|GABA-A receptor-associated protein||605125|REc|||| | ||
17.85|4|3|09|17p13.1|GUCY2D, GUC2D, LCA1, CORD6, RCD2|C|Guanylate cyclase 2D, membrane, retina-specific||600179|Psh, A, Fd|LCA4 due to Aipl1 mutation also on 17p13.1||Leber congenital amaurosis 1, 204000 (3); Cone-rod dystrophy 6,|601777(3) | ||
17.86|6|6|00|17p13.1|KCNAB3, KCNA3B|P|Potassium voltage-gated channel, shaker-related subfamily, beta|member 3|604111|Psh, REn|||| | ||
17.87|12|19|11|17p13.1|KDM6B, JMJD3, KIAA0346|P|Lysine-specific demethylase 6B||611577|REc|||| | ||
17.88|6|30|05|17p13.2|MINK1, MINK|P|Misshapen/nik-related kinase 1||609426|REc|||| | ||
17.89|3|23|09|17p13.1|MIR195, MIRN195|P|Micro RNA 195||610718|REc|||| | ||
17.90|1|24|93|17p13.1|MYH1|C|Myosin, heavy polypeptide-1, skeletal muscle, adult||160730|REa, C|cluster = 6 genes in 500kb||| | |11(Myh)|
17.91|2|12|01|17p13.1|MYH2|C|Myosin, heavy polypeptide-2, skeletal muscle, adult||160740|REa, C|||Inclusion body myopathy-3, 605637 (3)| | ||
17.92|5|2|06|17p13.1|MYH3|C|Myosin, heavy polypeptide-3, skeletal muscle, embryonic||160720|REa|||Arthrogryposis, distal, type 2A, 193700 (3); Arthrogryposis, distal,|type 2B, 601680 (3) | ||
17.93|10|4|93|17p13.1|MYH4|P|Myosin, heavy polypeptide-4, skeletal muscle||160742|REa, REn|||| | ||
17.94|8|13|04|17p13.1|MYH8|C|Myosin, heavy polypeptide-8, skeletal muscle, perinatal||160741|REa, REn, Fd|||Carney complex variant, 608837 (3); Trismus-pseudocamptodactyly|syndrome, 158300 (3) | ||
17.95|10|2|12|17p13.1|NTN1, NTN1L|P|Netrin 1, mouse, homolog of||601614|A, REc|||| | ||
17.96|7|3|06|17p13.1|ODF4, OPPO1|P|Outer dense fiber of sperm tails 4||610097|REc, H|||| | |11(Odf4)|
17.97|5|3|13|17p13.1|PIK3R5, p101|P|Phosphatidylinositol 3-kinase, regulatory subunit 5||611317|R, REc|||Ataxia-oculomotor apraxia 3, 615217 (3)| | ||
17.98|6|24|08|17p12|PIRT|P|Phosphoinositide-interacting regulator of transient receptor potential|channels|612068|REc|||| | ||
17.99|8|29|08|17p13.2|PITPNM3, NIR1, CORD5|C|Phosphatidylinositol transfer protein, membrane-associated, 3||608921|R, A, Fd|||Cone-rod dystrophy 5, 600977 (3)| | ||
17.100|5|24|00|17p13.2|PLD2|P|Phospholipase D2||602384|A|||| | |11(Pld2)|
17.101|3|10|03|17p13.1|PLSCR3|P|Phospholipid scramblase 3||607611|REc|||| | ||
17.102|4|27|93|17p13.1|POLR2A, RPOL2|C|Polymerase (RNA) II (DNA directed) polypeptide A, 220kD||180660|REa, A, C|||| | |11(Rpo21)|
17.103|5|10|93|17p13.1|RCV1|C|Recoverin||179618|REa, A|||| | |11(Rcvrn)|
17.104|10|13|09|17p13.1|SAT2, SSAT2|P|Spermidine/spermine N(1)-acetyltransferase 2||611463|REc|||| | ||
17.105|7|9|09|17p13.1|SENP3|P|Sentrin-specific protease family, member 3||612844|REc|||| | ||
17.106|3|12|07|17p13.1|SLC25A35|P|Solute carrier family 25, member 35||610818|REc|||| | |11(Slc25a35)|
17.107|3|15|13|17p13.1|SPEM1, C17orf83|P|Spermatid maturation protein 1||615116|REc|||| | ||
17.108|5|25|00|17p13.1|STK12, ARK2, AIK2, AIM1|P|Serine/threonine protein kinase 12||604970|A, R, H|||| | |11(Stk12)|
17.109|11|2|04|17p13.1|TEKT1|P|Tektin 1||609002|REc|||| | ||
17.110|9|16|03|17p13.1|TNK1|P|Tyrosine kinase, nonreceptor, 1||608076|Psh, A|||| | ||
17.111|1|14|13|17p13.1|TP53, P53, LFS1 , BCC7|C|Tumor protein p53||191170|REa, A, D|||Colorectal cancer, 114500 (3); Li-Fraumeni syndrome, 151623 (3);|Hepatocellular carcinoma, 114550 (3); Osteosarcoma, 259500 (3); Choroid plexus papilloma, 260500 (3); Nasopharyngeal carcinoma, 607107 (3); Pancreatic cancer,|260350 (3); Adrenal cortical carcinoma, 202300 (3); Breast cancer, 114480 (3); {Basal cell carcinoma 7}, 614740 (3); {Glioma susceptibility 1}, 137800 (3)|11(Trp53)|
17.112|4|26|11|17p13.1|TMEM102, CBAP|P|Transmembrane protein 102||613936|REc|||| | ||
17.113|9|2|09|17p13.1|TRNAG2, TRG2|P|tRNA glycine-2||610407|A, Psh|at least 8 copies in this region||| | ||
17.114|3|31|09|17p13.1|TRNAK1, TRK1|C|Transfer RNA lysine 1 (anticodon UUU)||189918|REa, A|||| | ||
17.115|9|2|09|17p13.1|TRNAL2, TRL2|C|tRNA leucine-2||189920|REa, A|||| | ||
17.116|9|2|09|17p13.1|TRNAR1, TRR1|P|tRNA arginine-1||610406|A, Psh|||| | ||
17.117|9|2|09|17p13.1|TRNAQ1, TRQ1|C|tRNA glutamine-1||189919|REa, A|||| | ||
17.118|12|23|05|17p13.1|WDR16, WDRPUH|P|WD repeat-containing protein 16||609804|REc|||| | ||
17.119|9|22|08|17p13.1|ZBTB4, KIAA1538|P|Zinc finger and BTB domain-containing 4||612308|R, REc|||| | ||
17.120|2|10|05|17p13.1|MPDU1, SL15, CDGIF|C|Mannose-P-dolichol utilization defect 1||604041|R|||Congenital disorder of glycosylation, type If, 609180 (3)| | ||
17.121|6|25|99|17p13.1|MYH13|P|Myosin, heavy polypeptide 13, skeletal muscle||603487|R, REc|||| | |11(Myh13)|
17.122|3|16|99|17p13.1|EFNB3, EPLG8, LERK8, EFL6|P|Ephrin B3||602297|Psh|||| | ||
17.123|9|12|95|17p11.2|NOS2B|P|Nitric oxide synthase 2B||600719|Psh|||| | ||
17.124|9|12|95|17q11.2|NOS2C|P|Nitric oxide synthase 2C||600720|Psh|||| | ||
17.125|9|26|05|17p13.1|ACADVL, VLCAD|C|Acyl-Coenzyme A dehydrogenase, very long chain||609575|REa, H|||VLCAD deficiency, 201475 (3)| | |11(Acadvl)|
17.126|11|27|94|17p13.2|ARRB2|P|Arrestin, beta 2||107941|A|||| | ||
17.127|6|7|04|17p13|ASPG2|P|Asperger syndrome, susceptibility to, 2||608631|Ch|breakpoints between CHRNE and GP1BA||{Asperger syndrome susceptibility 2} (2)| | ||
17.128|7|6|00|17p13.2|CARKL|P|Carbohydrate kinase-like||605060|REn|||| | ||
17.129|12|15|98|17p13.1|CD68|P|Macrophage antigen CD68 (macrosialin)||153634|A|||| | |11(Cd68)|
17.130|5|29|98|17p13.1|CHD3|P|Chromodomain helicase DNA binding protein-3||602120|R|||| | ||
17.131|7|22|13|17p13|CTRCT24, CTAA2|P|Cataract 24, anterior polar||601202|Fd|||Cataract 24, anterior polar (2)| | ||
17.132|2|28|03|17p13.2|CTNS|C|Cystinosin||606272|Fd, REc|?3 allelic forms||Cystinosis, nephropathic, 219800 (3); Cystinosis, ocular|nonnephropathic, 219750 (3); Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3); Cystinosis, atypical nephropathic, 219800|(3) ||
17.133|11|27|00|17p13.2|CXCL16|P|CXC chemokine ligand-16||605398|Psh|||| | |11(Cxcl16)|
17.134|2|21|06|17p13.1|DNAH2, DNAHC2|P|Dynein, axonemal, heavy chain-2||603333|REa, REc|||| | |11(Dnach2)|
17.135|12|15|98|17p13.1|EIF4A1, DDX2A|P|Eukaryotic translation initiation factor 4A, isoform 1||602641|A|||| | |11(Eif4a1)|
17.136|4|30|09|17p13|CMS1A1, FIM1|P|Congenital myasthenic syndrome type Ia, infantile 1||605809|Fd|||Myasthenia, familial infantile, 1 (2)| | ||
17.137|1|24|93|17p13.1|MYH10|P|Myosin, heavy polypeptide-10, non-muscle||160776|REa, A|||| | ||
17.138|12|27|01|17p13.3|MYO1C|P|Myosin IC||606538|Psh, R|||| | ||
17.139|5|13|13|17p13.2|NLRP1, NALP1, KIAA0926, DEFCAP, CARD7, SLEV1, VAMAS1, CIDED|C|NLR family, pyrin domain containing 1||606636|R, Fd|1 CIDED family identified with mutation||{Vitiligo-associated multiple autoimmune disease susceptibility 1},|606579 (3); ?Corneal intraepithelial dyskeratosis and ectodermal dysplasia, 615225 (3)| ||
17.140|4|6|01|17p13|NDIC|P|Nail dysplasia, isolated congenital||605779|Fd|||Nail dysplasia, isolated congenital (2)| | ||
17.141|5|20|99|17p13.2|NUP88|P|Nucleoporin, 88-kD||602552|A|||| | ||
17.142|7|22|09|17p13.1|PHF23|P|PHD finger protein 23||612910|REc, A|||| | ||
17.143|3|4|08|17p13.2|RABEP1, RABPT5|P|RAB GTPase-binding effector protein 1||603616|Ch|fused to PDGFRB in CMML||| | ||
17.144|2|20|12|17p13|SPAX2|P|Ataxia, spastic 2, autosomal recessive||611302|Fd|between D17S1845 and D17S1854||Ataxia, spastic 2, autosomal recessive (2)| | ||
17.145|12|9|98|17p13.1|SLC2A4, GLUT4|P|Solute carrier family 2 (facilitated glucose transporter), member 4||138190|REa, A|||{Diabetes mellitus, noninsulin-dependent}, 125853 (3)| | ||
17.146|8|29|02|17p13.1|SOX15, SOX20|P|SRY (sex-determining region Y)-box 15||601297|A|||| | ||
17.147|12|15|10|17p13|SXGQTL1|P|Sex hormone-binding globulin circulating level quantitative trait|locus 1|613498|Fd|associated with rs1799941||[Sex hormone-binding blobulin circulating level QTL 1] (2)| | ||
17.148|5|21|07|17p13.1|TRAPPC1, MUM2, BET5|P|Trafficking protein particle complex, subunit 1||610969|R|||| | ||
17.149|3|23|02|17p13.2|TRPV1, VR1|P|Transient receptor potential cation channel, subfamily V, member 1|(vanilloid receptor 1; capsaicin receptor)|602076|REc|||| | |11(Vr1)|
17.150|4|26|12|17p13.2|TRPV3, OLMS|P|Transient receptor potential cation channel, subfamily V, member 3||607066|REc|||Olmsted syndrome, 614594 (3)| | |11(Trpv3)|
17.151|5|22|03|17p13.2|USP6, TRE2|C|Ubiquitin-specific protease 6||604334|A, REc|||| | ||
17.152|7|1|11|17p13.1|WRAP53, TCAB1, WDR79, DKCB3|P|WD repeat-containing protein antisense to TP53||612661|REc|||Dyskeratosis congenita, autosomal recessive 3, 613988 (3)| | ||
17.153|11|11|91|17p13.1|ASGR1|P|Asialoglycoprotein receptor-1||108360|H, REa|||| | |11(Asgr1)|
17.154|10|11|04|17p13.2|CHRNE, SCCMS, CMS2A, FCCMS, CMS1E, CMS1D|C|Cholinergic receptor, nicotinic, epsilon polypeptide||100725|Psh, REc|near CHRNB1 on 17p||Myasthenic syndrome, slow-channel congenital, 601462 (3);|Myasthenic syndrome, fast-channel congenital, 608930 (3); Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)| ||
17.155|12|17|95|17p13.1|EIF5A|P|Eukaryotic translation initiation factor-5A||600187|A|||| | ||
17.156|12|12|00|17p13.1|SCOD1, SCO1|P|Cytochrome oxidase-deficient 1, S. cerevisiae, homolog of||603644|REc, Fd|||Hepatic failure, early onset, and neurologic disorder (3)| | ||
17.157|6|21|91|17p13.1|SHBG, ABP|P|Sex hormone-binding globulin (androgen binding protein)||182205|A|||| | |11(Shbg)|
17.158|12|4|03|17p13.1|SLC13A5, NACT|C|Solute carrier family 13 (sodium-dependent citrate transporter),|member 5|608305|R, REc|||| | ||
17.159|10|4|93|17p12|ZNF18, KOX11|C|Zinc finger protein-18 (KOX11)||194524|REa, A|||| | ||
17.160|10|12|90|17p12|ZNF29|P|Zinc finger protein-29 (KOX26)||194535|REa, A|proximal to TP53||| | |11(Zfp2)|
17.161|1|22|01|17p12|AOMS2|P|Abdominal obesity-metabolic syndrome QTL2||605572|Fd|second QTL on 3q27||Abdominal obesity-metabolic syndrome (2)| | ||
17.162|6|16|10|17p12|BRKS1|P|Bruck syndrome 1||259450|Fd, LD|||Bruck syndrome 1 (2)| | ||
17.163|4|26|01|17p12|DNAH9, DNAH17L, DNEL1|C|Dynein, axonemal, heavy chain 9||603330|A|||| | ||
17.164|12|17|07|17p11.2|FBXW10|P|F-box and WD40 domain protein 10||611679|REc|||| | |11(Fbxw10)|
17.165|11|2|98|17p13.1|PER, RIGUI|P|Period, Drosophila, homolog of||602260|A|||| | |11(Per)|
17.166|6|6|00|17p13.1|STX8|P|Syntaxin 8||604203|REa, A|||| | ||
17.167|3|31|09|17p12|TEKT3|P|Tektin 3||612683|REc|||| | ||
17.168|3|1|83|17p12|TTC19, MC3DN2|P|Tetratricopeptide repeat domain 19||613814|REc|||Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)| | ||
17.169|1|24|01|17p13.1|VAMP2, SYB2|C|Vesicle-associated membrane protein-2 (synaptobrevin-2)||185881|REa, A|||| | |11(Syb2)|
17.170|3|30|12|17p12|ZSWIM7, SWS1|P|Zinc finger SWIM domain-containing protein 7||614535|REc|||| | ||
17.171|3|26|95|17p12|ADORA2B|P|Adenosine A2b receptor||600446|A, Psh|incorrectly put on 10||| | ||
17.172|7|14|00|17p12|COX10|C|Cytochrome c oxidase, subunit X||602125|REc|||Encephalopathy, progressive mitochondrial, with proximal renal|tubulopathy due to cytochrome c oxidase deficiency (3) | ||
17.173|6|6|00|17p12|HS3ST3A1, 30ST3A1|P|Heparan sulfate D-glucosaminyl 3-0-sulfotransferase 3A1||604057|REc|||| | |11(30st3a1)|
17.174|6|6|00|17p12|HS3ST3B1, 30ST3B1|P|Heparan sulfate D-glucosaminyl 3-0-sulfotransferase 3B1||604058|REc|||| | |11(30st3B)|
17.175|12|20|96|17p11.2|LLGL1, DLG4|C|Lethal giant larvae, Drosophila, homolog of, 1||600966|REa, A|||| | ||
17.176|5|4|12|17p11.2|PIGL, CHIME|P|Phosphatidylinositol glycan, class L||605947|R|||CHIME syndrome, 280000 (3)| | ||
17.177|6|25|99|17p11.2|PRPSAP2, PAP41|P|Phosphoribosylpyrophosphate synthetase-associated protein 2||603762|A|||| | ||
17.178|1|27|97|17p11.2|TOP3A|P|Topoisomerase (DNA) III, alpha||601243|REa, A|||| | ||
17.179|1|29|08|17p11.2|UBB|C|Ubiquitin B||191339|A, REc|||Cleft palate, isolated, 119540 (2)| | ||
17.180|10|11|04|17p13.1|CHRNB1, ACHRB, SCCMS, CMS2A, CMS1D|C|Cholinergic receptor, nicotinic, beta polypeptide-1, muscle||100710|H, REa, A|linked to Myh on mouse 11||Myasthenic syndrome, slow-channel congenital, 601462 (3);|Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931 (3)| |11(Acrb)|
17.181|6|7|10|17p12-q11.2|DFNB85|P|Deafness, autosomal recessive 85||613392|Fd|between rs230884 and rs12603885||Deafness, autosomal recessive 85 (2)| | ||
17.182|11|14|12|17p12-q21.2|ECTD6|P|Ectodermal dysplasia 6, hair/nail type||614928|Fd|between D17S839 and D17S1299||Ectodermal dysplasia 6, hair/nail type (2)| | ||
17.183|3|27|95|17p11.2|ALDH3A1, ALDH3|C|Aldehyde dehydrogenase 3 family, member A1||100660|S, A|||| | |11(Ahd4)|
17.184|8|9|05|17p11.2|ALDH3A2, ALDH10, SLS, FALDH|C|Aldehyde dehydrogenase 3 family, member A2|(fatty aldehyde dehydrogenase)|609523|Fd, LD|||Sjogren-Larsson syndrome, 270200 (3)| | ||
17.185|3|16|10|17p11.2|ALKBH5, ABH5|P|AlkB, E. coli, homolog of, 5||613303|REc|||| | ||
17.186|7|1|11|17p11.2|ATPAF2, ATP12, MC5DN1|P|ATP synthase, mitochondrial F1 complex, assembly factor 2||608918|REc|||Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1,|604273 (3) | |11(Atpaf2)|
17.187|9|1|11|17p11.2|B9D1, MKSR1, MKS9|P|B9 domain-containing protein 1||614144|REc|||Meckel syndrome 9, 614209 (3)| | ||
17.188|4|23|10|17p11.2|CENPV, P30|P|Centromere protein V||608139|R, REc|||| | ||
17.189|1|8|01|17p11.2|COPS3, SGN3|P|COP9, subunit 3||604665|REa, REc|||| | ||
17.190|3|6|01|17p11.2|DRG2|C|Developmentally regulated GTP-binding protein 2||602986|A, REa|||| | ||
17.191|3|7|05|17p11.2|FLCN, BHD|C|Folliculin||607273|Fd, REc|||Birt-Hogg-Dube syndrome, 135150 (3); Pneumothorax, primary|spontaneous, 173600 (3); Renal carcinoma, chromophobe, somatic, 144700 (3); Colorectal cancer, somatic, 114500 (3)| ||
17.192|5|13|97|17p11.2|FLII|P|Flightless-I, Drosophila, homolog of||600362|A, REa|||| | ||
17.193|2|2|04|17q11.2|GIT1|P|G protein-coupled receptor kinase-interacting protein 1||608434|REc, R|||| | ||
17.194|11|21|02|17p11.2|IS2, AIS2|P|Scoliosis, idiopathic 2||607354|Fd|between D17S947 and D17S798||Scoliosis, idiopathic 2 (2)| | ||
17.195|2|21|10|17p11.2|KCNJ18, KIR2.6, TTPP2|P|Potassium channel, inwardly rectifying, subfamily J, member 18||613236|REc|||{Thyrotoxic periodic paralysis, susceptibility to, 2}, 613239 (3)| | ||
17.196|6|25|99|17p11.2|MAPK7, PRKM7, ERK5|P|Mitogen-activated protein kinase 7 (extracellular signal-regulated|kinase 5)|602521|Psh|||| | ||
17.197|3|22|06|17p11.2|MED9, MED25, FLJ10193|P|Mediator of RNA polymerase II transcription, subunit 9, S. cerevisiae,|homolog of|609878|R, REc|||| | ||
17.198|12|10|13|17p11.2|MEIF2, SMCR7, MID49|P|Mitochondrial elongation factor 2||615498|REc|||| | ||
17.199|4|9|96|17p11.2|MFAP4|P|Microfibrillar-associated protein-4||600596|D|||| | ||
17.200|10|12|10|17p11.2|MIR33B, MIRN33B|P|Micro RNA 33B||613486|REc|||| | ||
17.201|8|17|09|17p11.2|MPRIP, MRIP, KIAA0864, RIP3, P116RIP|P|Myosin phosphatase Rho-interacting protein||612935|R, REc|||| | ||
17.202|3|16|04|17p12|MYOCD|P|Myocardin||606127|REc|||| | ||
17.203|5|28|98|17p11.2|MYO15A, DFNB3|C|Myosin XVA||602666|Fd, REc|||Deafness, autosomal recessive 3, 600316 (3)| | |11(sh2, Myo15)|
17.204|6|21|01|17p11.2|NT5M, DNT2|P|Deoxyribonucleotidase, mitochondrial (5' nucleotidase,|mitochondrial)|605292|REc, REn|||| | ||
17.205|9|13|12|17p11.2|PEMT, PEMPT|P|Phosphatidylethanolamine N-methyltransferase||602391|REc|||| | ||
17.206|5|4|12|17p12|PMP22, CMT1A, CMT1E, DSS|C|Peripheral myelin protein-22||601097|Fd, D, A|||Charcot-Marie-Tooth disease, type 1A, 118220 (3); Dejerine-Sottas|disease, 145900 (3); Neuropathy, recurrent, with pressure palsies, 162500 (3); Charcot-Marie-Tooth disease, type 1E, 118300 (3);|Roussy-Levy syndrome, 180800 (3); Neuropathy, inflammatory demyelinating, 139393 (3)|11(Tr)|Lupski (1991); Timmerman (1992)
17.207|12|17|12|17p11.2|PLD6, ZUC|P|Phospholipase D family, member 6||614960|REc|||| | ||
17.208|4|17|07|17p11.2|PTLS|P|Potocki-Lupski syndrome||610883|Ch, REc|contiguous gene syndrome||Potocki-Lupski syndrome (4)| | ||
17.209|3|25|03|17p11.2|RAI1, SMCR, SMS|C|Retinoic acid-induced gene 1||607642|REc, Ch|||Smith-Magenis syndrome, 182290 (3)| | ||
17.210|2|9|04|17p11.2|RASD1, DEXRAS1|P|Ras protein, dexamethasone-induced, 1||605550|REc, R|||| | ||
17.211|9|22|93|17p11.2|RNU3|P|RNA, U3 small nuclear||180710|D|deleted in Smith-Magenis syndrome||| | ||
17.212|7|8|96|17p12|SERK1, PRKMK4, MAPKK4, JNKK1|P|SAPK/ERK kinase-1||601335|Psh, A|||| | |11(Serk1)|
17.213|7|13|93|17p11.2|SHMT1|C|Serine hydroxymethyltransferase (soluble)||182144|A, D|?role in Smith-Magenis syndrome||| | ||
17.214|7|9|09|17p11.2|SLC47A1, MATE1, FLJ10847|P|Solute carrier family 47, member 1||609832|REc|||| | |11(Mate1)|
17.215|7|9|09|17p11.2|SLC47A2, MATE2, FLJ31196, MATE2K|P|Solute carrier family 47, member 2||609833|REc|||| | |11(Mate2)|
17.216|9|8|11|17p11.2|SPECC1, HCMOGT1, NSP|P|Sperm antigen with calponin homology and coiled-coil domains 1||608793|A|||| | ||
17.217|1|10|96|17p11.2|SREBF1|P|Sterol regulatory element binding transcription factor 1||184756|REa, A|||| | ||
17.218|12|15|10|17p11.2|TNFRSF13B, TACI, CVID2|P|Tumor necrosis factor receptor superfamily, member 13B||604907|REc|||Immunoglobulin A deficiency 2, 609529 (3); Immunodeficiency, common|variable, 2, 240500 (3) | ||
17.219|11|19|13|17p11.2|TOM1L2|P|TOM1-like 2||615519|REc|||| | ||
17.220|3|14|13|17p11.2|ULK2, KIAA0623, UNC51.2|C|UNC51-like kinase 2||608650|REc, R|||| | |11(Ulk2)|
17.221|6|30|08|17p11.2|USP22, KIAA1064|P|Ubiquitin-specific protease 22||612116|R, REc|||| | ||
17.222|3|10|00|17p11.2-p11.2|VWSM|P|Van der Woude syndrome modifier||604547|Fd|||| | ||
17.223|5|13|97|17p11.2|ZNF179, BFP|P|Zinc finger protein-179||601237|A|proximal to LLGS||| | |11(Bfp)|
17.224|5|3|04|17p11.2|KCNJ12, KCNJN1|C|Potassium inwardly-rectifying channel, subfamily J, member 12||602323|A|||| | ||
17.225|4|2|09|17p11.2|AKAP10|P|A-kinase anchor protein 10||604694|R|||{Cardiac conduction defect, susceptibility to}, 115080 (3)| | ||
17.226|1|1|12|17q11.2|IFT20|P|Intraflagellar transport 20, chlamydomonas, homolog of||614394|REc|||| | ||
17.227|11|4|98|17q11.2|CPD|P|Carboxypeptidase D||603102|Psh|||| | |11(Cpd)|
17.228|10|8|99|17q11.2|SLC13A2, NADC1|C|Solute carrier family 13 (sodium-dependent dicarboxylate transporter),|member 2|604148|REa, A, R|||| | ||
17.229|9|30|04|17p11|ADHD2|P|Attention deficit-hyperactivity disorder, susceptibility to, 2||608904|Fd|||{Attention deficit-hyperactivity disorder}, 143465 (2)| | ||
17.230|10|15|13|17p12|ELAC2, HPC2, COXPD17|C|elaC, E. coli, homolog 2||605367|Fd, R|at ~365cR||{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3);|Combined oxidative phosphorylation deficiency 17, 615440 (3) | ||
17.231|1|2|91|17p13.1|ASGR2|L|Asialoglycoprotein receptor-2||108361|H|||| | |11(Asgr2)|
17.232|4|12|92|17p13.1|ATP1B2, AMOG|P|ATPase, Na+K+ transporting, beta-2 polypeptide||182331|H, REa|||| | |11(Atp1b2)|
17.233|1|26|97|17p|CACD1|P|Choroidal dystrophy, central areolar 1||215500|Fd|||Choroidal dystrophy, central areolar 1 (2)| | ||
17.234|10|14|98|17p13.1|GAS7|P|Growth arrest-specific 7||603127|REc, H|||| | |11(gas7)|
17.235|11|4|13|17p13.1|RPL26, DBA11|P|Ribosomal protein L26||603704|Psh, R|mutation identified in 1 family||?Diamond-Blackfan anemia 11, 614900 (3)| | ||
17.236|2|20|03|17q11.2|NOS2A, NOS2|C|Nitric oxide synthase 2A, inducible, hepatocytes||163730|REa, A, Psh, H|?cluster of 3 NOS2 genes||{Hypertension, susceptibility to}, 145500 (2); {Malaria, resistance|to}, 611162 (3) | |11(Nos2)|
17.237|9|15|89|17q11.2|ALDOC|C|Aldolase C, fructose-bisphosphatase||103870|REb, REa, A|||| | ||
17.238|8|4|99|17q|HYT1|P|Hypertension, essential, susceptibility to, 1||603918|Fd|~18cM distal to ACE||{Hypertension, essential, susceptibility to, 1}, 145500 (2)| | ||
17.239|10|20|99|17q25.1|RPL38|P|Ribosomal protein L38||604182|REa, R|||| | ||
17.240|5|16|07|17q11|AUTS6|P|Autism, susceptibility to, 6||609378|Fd|max lod at D17S1800||{Autism susceptibility 6} (2)| | ||
17.241|1|11|02|17q11|ERVE1, HERVE1|P|Endogenous retroviral sequence E, 1||606601|REc|||| | ||
17.242|8|20|99|17q11.2|GOSR1, GOS28, GS28|P|Golgi snap receptor complex member 1||604026|R, A|||| | ||
17.243|3|3|03|17q11.2|PPY2|P|Pancreatic polypeptide 2||606638|REa|||| | ||
17.244|3|3|03|17q11.2|PYY2|P|Peptide YY, 2||606637|Psh, REa|||| | ||
17.245|10|18|11|17q12|RAD51L3, RAD51D, BROVCA4|P|RAD51, S. cerevisiae, homolog of, D||602954|R, H|||{Breast-ovarian cancer, familial, susceptibility to, 4}, 614291 (3)| | |11(Rad51d)|
17.246|9|1|11|17q11.2|RNF135, MMFD|P|Ring finger protein 135||611358|REc|||Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3)| | ||
17.247|8|20|99|17q12|RPL23|P|Ribosomal protein L23||603662|REa, R|||| | ||
17.248|3|26|95|17q12|RPL19|C|Ribosomal protein L19||180466|REa, A|||| | ||
17.249|2|18|98|17q11.2|RPL23A|P|Ribosomal protein L23a||602326|A|||| | ||
17.250|4|30|03|17q11.2|SARM, KIAA0524|C|Sterile alpha and heat/armadillo motifs-containing protein||607732|R, REc|||| | ||
17.251|8|7|92|17q11.2|VTN, VNT|P|Vitronectin (serum spreading factor, somatomedin B, complement|S-protein)|193190|A|||| | ||
17.252|8|24|98|17q11.2|FLOT2, M17S1, ECS1, ESA1|C|Flotillin 2 (epidermal surface antigen 1)||131560|Fd, REa, A, REn|~180kb centromeric to NF1||| | |11(Esa1)|
17.253|2|11|08|17q11.2|FOXN1, WHN|P|Forkhead box N1 (winged helix nude)||600838|R|||T-cell immunodeficiency, congenital alopecia, and nail dystrophy,|601705 (3) | ||
17.254|12|27|01|17q11.2|MYO1D, KIAA0727|P|Myosin ID||606539|R, H|||| | |11(Myo1d)|
17.255|6|28|02|17q12|STARD3, MLN64|P|Start domain-containing protein 3||607048|REa, A|||| | ||
17.256|4|2|01|17q21.2|DANJC7, TTC2, TPR2|P|DnaJ, E. coli, homolog of, subfamily C, member 7|(tetratricopeptide repeat domain 2)|601964|REa|||| | ||
17.257|5|8|96|17q23.3|CYB561|P|Cytochrome b-561||600019|REa|||| | ||
17.258|8|1|08|17q25.1|ITGB4|C|Integrin, beta-4||147557|REa|||Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3);|Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3); Epidermolysis bullosa of hands and feet, 131800 (3)| ||
17.259|9|29|13|17q11.2|NEK8, JCK, NPHP9, RHPD2|P|Never in mitosis gene A-related kinase 8||609799|REc|mutations identified in 1 family each with RHPD2 and NPHP9||?Nephronophthisis 9, 613824 (3); ?Renal-hepatic-pancreatic dysplasia|2, 615415 (3) | ||
17.260|4|18|07|17q11.2|RAB34, RAH|P|Ras-associated protein 34||610917|REc|||| | ||
17.261|5|5|09|17q11.2|SLC46A1, HCP1, PCFT|P|Solute carrier family 46 (folate transporter), member 1||611672|REc|||Folate malabsorption, hereditary, 229050 (3)| | |11(Slc46a1)|
17.262|12|5|01|17q12|TAF15, TAF2N, RBP56|C|TAF15 RNA polymerase II, TATA box-binding protein-associated factor,|68kD|601574|REa, A, Psh|fusion gene with CSMF||Chondrosarcoma, extraskeletal myxoid, 612237 (1)| | ||
17.263|5|23|13|17q11.2|CRYBA1, CRYB1, CTRCT10|C|Crystallin, beta A1||123610|REa, A, Fd|centromeric to NF1||Cataract 10, multiple types, 600881 (3)| | |11(Cryba1)|
17.264|1|26|12|17q11.2|SLC6A4, HTT, OCD1|C|Solute carrier family 6 (neurotransmitter transporter, serotonin),|member 4|182138|REa, A, Fd|||{Anxiety-related personality traits}, 607834 (3);|{Obsessive-compulsive disorder}, 164230 (3) | |11(Htt)|
17.265|4|6|13|17q11.2|ANKRD13B|P|Ankyrin repeat domain-containing protein 13B||615124|REc|||| | ||
17.266|1|12|12|17q11.2|ATAD5, C17orf41, FRAG1, FLJ12735|P|ATPase family, AAA domain containing 5||609534|A|||| | |11(Atad5)|
17.267|8|24|98|17q11.2|BLMH, BMH|P|Bleomycin hydrolase||602403|REc|||{Alzheimer disease, susceptibility to}, 104300 (3)| | ||
17.268|2|5|07|17q12|CCL3L1, SCYA3L1, LD78|C|Chemokine, C-C motif, ligand 3-like 1||601395|REn|varies in copy number 1-10||{HIV/AIDS, susceptibility to}, 609423 (3)| | ||
17.269|8|29|02|17q12|CCL8, SCYA8|P|Chemokine, C-C motif, ligand 8||602283|REc|||| | ||
17.270|8|29|02|17q12|CCL13, SCYA13, NCC1|P|Chemokine, C-C motif, ligand 13||601391|REn|||| | ||
17.271|8|29|02|17q12|CCL14, SCYA14, NCC2|P|Chemokine, C-C motif, ligand 14||601392|REn|||| | ||
17.272|5|27|97|17q12|CCL15, SCYA15, NCC3, LKN1|C|Chemokine, C-C motif, ligand 15||601393|REn|||| | ||
17.273|8|29|02|17q12|CCL16, SCYA16, NCC4|P|Chemokine, C-C motif, ligand 16||601394|REn|||| | ||
17.274|8|29|02|17q12|CCL18, SCYA18, PARC, AMAC1, DCCK1|C|Chemokine, C-C motif, ligand 18||603757|REc|in 47kb, CCL18-CCL3-CCL4||| | ||
17.275|5|10|04|17q11.2|CENTA2|P|Centaurin, alpha-2||608635|REc|||| | ||
17.276|10|11|12|17q11.2|CRLF3, CYTOR4, CRLM9, CREME9|P|Cytokine receptor-like factor 3||614853|REc|||| | ||
17.277|1|21|11|17q11.2|DEL17q11.2, C17DELq11.2|P|Chromosome 17q11.2 deletion syndrome, 1.4Mb (NF1 microdeletion|syndrome)|613675|Ch|||Chromosome 17q11.2 deletion syndrome, 1.4Mb (4)| | ||
17.278|3|6|92|17q11.2|EVI2A, EVI2, EVDA|C|Ecotropic viral integration site 2A||158380|Fd, REa, RE|within the NF1 gene||| | |11(Evi2)|
17.279|3|4|92|17q11.2|EVI2B, EVDB|C|Ecotropic viral integration site 2B||158381|REn|within the NF1 gene||| | ||
17.280|9|22|04|17q11.2|JJAZ1, KIAA0160|C|JJAZ1 gene||606245|Ch, REn|||Endometrial stromal tumors (2)| | ||
17.281|5|1|03|17q21.2|KRT24, FLJ20261|P|Keratin 24||607742|REc|||| | ||
17.282|1|31|07|17q11.1-q11.2|KSR, KSR1|P|Kinase suppressor of RAS||601132|REc|||| | ||
17.283|4|18|05|17q11.2|LGALS9|P|Lectin, galactoside-binding, soluble, 9||601879|REc|||| | ||
17.284|5|12|09|17q12|LYZL6|P|Lysozyme-like 6||612751|REc|||| | ||
17.285|3|23|09|17q11.2|MIR144, MIRN144|P|Micro RNA 144||612070|REc|||| | ||
17.286|7|20|12|17q11.2|MIR193A|P|Micro RNA 193A||614733|REc|||| | |11(Mir193a)|
17.287|3|23|09|17q11.2|MIR451, MIRN451|P|Micro RNA 451||612071|REc|||| | ||
17.288|8|8|13|17q12|MMP28|C|Matrix metalloproteinase 28||608417|REc, Psh|||| | ||
17.289|3|11|09|17q11.2|MPVQTL3|P|Mean platelet volume quantitative trait locus 3||612575|Fd|associated with rs2138852||[Mean platelet volume QTL3] (2)| | ||
17.290|3|16|10|17q11.2|MYO18A, SPR210|P|Myosin XVIIIA||610067|REc|||| | ||
17.291|11|23|09|17q11.2|NF1, VRNF, WSS, NFNS|C|Neurofibromin (neurofibromatosis, type I)||613113|Fd, EM, Ch, F|||Neurofibromatosis, type 1, 162200 (3); Leukemia, juvenile|myelomonocytic, 607785 (3); Melanoma, desmoplastic neurotrophic (2); Neurofibromatosis, familial spinal, 162210 (3); Neurofibromatosis-Noonan|syndrome, 601321 (3); Watson syndrome, 193520 (3) ||Allanson (1991); Thakker (1992)
17.292|5|18|99|17q21.1|NR1D1, THRAL, EAR1|P|Nuclear receptor 1, subfamily D, member 1 (thyroid hormone receptor,|alpha-1-like)|602408|REn|||| | ||
17.293|6|2|08|17q11.2|NUFIP2, KIAA1321, PIG1|P|Nuclear fragile X mental retardation protein-interacting protein 2||609356|R, REc|||| | ||
17.294|8|13|91|17q11.2|OMG, OMGP|C|Oligodendrocyte-myelin glycoprotein||164345|REa, A|within the NF1 gene||| | ||
17.295|8|3|12|17q11.2|PIGS|P|Phosphatidylinositol glycan, class S||610271|REc, R|||| | ||
17.296|9|9|08|17q11.2|POLDIP2, PDIP38|P|Polymerase delta-interacting protein 2||611519|R, REc|||| | ||
17.297|6|23|99|17p11.2|PRKMK3, MAPKK3, MEK3|P|Protein kinase, mitogen-activated, kinase-3||602315|R|||| | ||
17.298|9|25|12|17q11.2|PSMD11, S9|P|Proteasome 26S subunit, non-ATPase, 11||604449|REc|||| | ||
17.299|4|23|08|17q11.2|RAB11FIP4, KIAA1821|P|RAB11 family-interacting protein 4||611999|REc|||| | ||
17.300|7|22|09|17q12|RDM1|P|RAD52 motif-containing protein 1||612896|REc|||| | ||
17.301|4|15|11|17q11.2|RHOT1, MIRO1, ARHT1|P|Ras homolog gene family, member T1||613888|REc|||| | ||
17.302|8|6|98|17q11.2|SDF2|P|Stromal cell-derived factor-2||602934|A|||| | ||
17.303|5|22|07|17q11.2|SEBOX, OG9|P|Skin-, embryo-, brain-, and oocyte-specific homeobox||610975|REc, H|||| | |11(Sebox)|
17.304|12|27|13|17q11.2|SPAG5, MAP126, ASTRIN|P|Sperm-associated antigen 5||615562|REc|||| | ||
17.305|4|3|12|17q11.2|SSH2, KIAA1725|P|Slingshot, Drosophila, homolog of, 2||606779|R, REc|||| | ||
17.306|10|26|03|17q21.2|STAT5B|P|Signal transducer and activator of transcription 5B||604260|A, Ch|fusion partner with RARA in leukemia||Leukemia, acute promyelocytic, STAT5B/RARA type (3); Growth hormone|insensitivity with immunodeficiency, 245590 (3) | ||
17.307|7|8|96|17q11.2|SUPT6H|P|Suppressor of Ty, S.cerevisiae, 6 homolog of||601333|Psh, A|||| | |11(Supt6h)|
17.308|12|7|09|17q11.2|TAOK1, PSK2, TAO1, MARKK|P|TAO kinase 1||610266|REc|||| | ||
17.309|1|27|12|17q21.1|THRA, ERBA1, THRA1, CHNG6|C|Thyroid hormone receptor, alpha (oncogene ERBA1)||190120|REa, Ch|||Hypothyroidism, congenital, nongoitrous, 6, 614450 (3)| | |11(Erba)|
17.310|4|19|06|17q11.2|TIAF1, MYO18A, MYSPDZ, MAJN, SPR210, KIAA0216|P|TGFB1-induced antiapoptotic factor 1||609517|R, Psh, REc|||| | ||
17.311|7|22|09|17q11.2|TMEM97, MAC30|C|Transmembrane protein 97||612912|Psh, REa, Ch|||| | ||
17.312|11|19|13|17q11.2|UNC119, HRG4, IMD13|C|Unc119, C. elegans, homolog of (human retinal gene 4)||604011|REa, A|mutation identified in 1 IMD13 family and CORD family||?Cone-rod dystrophy (3); ?Immunodeficiency 13, 615518 (3)| | ||
17.313|6|18|99|17q11.2|ZNF207|P|Zinc finger protein-207||603428|A, REc|mapped by FISH to 6p21.3||| | ||
17.314|2|16|04|17q12|AATF, CHE1|P|Apoptosis-antagonizing transcription factor||608463|A|||| | |11(Aatf)|
17.315|7|13|98|17q11-q12|ACCN1, BNC1, MDEG|P|Amiloride-sensitive cation channel 1, neuronal (degenerin)||601784|A|||| | ||
17.316|9|18|00|17q12|AP2B1, CLAPB1, ADTB2|P|Adaptor-related protein complex 2, beta 1 subunit||601025|REa|||| | ||
17.317|10|11|06|17q12|CCL2, SCYA2, MCP1, MCAF|C|Small inducible cytokine A2 (monocyte chemotactic protein, homologous|to mouse Sig-je)|158105|REa, A|||{HIV-1, resistance to}, 609423 (3); {Spina bifida, susceptibility|to}, 182940 (3); {Coronary artery disease, modifier of} (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)| ||
17.318|10|7|02|17q12|CCL5, SCYA5, D17S136E, TCP228|P|Chemokine, C-C motif, ligand 5||187011|REa, A|||{HIV-1 disease, delayed progression of} (3); {HIV-1 disease, rapid|progression of} (3) | ||
17.319|8|29|02|17q12|CCL7, SCYA7, MCP3|P|Chemokine, C-C motif, ligand 5||158106|A|close to ERBB2||| | ||
17.320|7|8|89|17q21.1|CSF3, GCSF|C|Colony-stimulating factor-3 (granulocyte)||138970|A, REa, REb, RE|||| | |11(Csfq)|
17.321|10|15|97|17q12|LIG3|C|Ligase III, DNA, ATP-dependent||600940|Psh, A|||| | ||
17.322|10|15|94|17q11.2-q24|MHS2|P|Malignant hyperthermia susceptibility 2||154275|Fd|?due to mutation in SCN4A||{Malignant hyperthermia susceptibility 2} (2)| | ||
17.323|11|30|06|17q12|ARHGAP23, KIAA1501|C|RHO GTPase-activating protein 23||610590|R, REc|||| | |11(Arhgap23)|
17.324|2|19|08|17q12|C17orf37, RDX12|P|Chromosome 17 open reading frame 37||611802|REc|||| | ||
17.325|7|18|06|17q12|CCL3, SCYA3, MIP1A|C|Chemokine, C-C motif, ligand 3||182283|REa, REn|in 47kb, CCL18-CCL3-CCL4||{HIV infection, resistance to}, 609423 (2)| | |11(Mip1a)|
17.326|2|2|04|17q12|CCL4, SCYA4, ACT2, MIP1B, AT744.1|C|Chemokine, C-C motif, ligand 4||182284|REa, A, REn|||| | |(Mip1b)|
17.327|3|8|07|17q12|CCL4L, SCYA4L, LAG1|C|Chemokine, C-C motif, ligand 4-like||603782|Psh, REn|||| | ||
17.328|3|8|07|17q12|CCL4L2|P|Chemokine, CC motif, ligand 4-like 2||610757|REc|||| | ||
17.329|1|30|07|17q12|CCT6B, CCTZ2|P|Cahperonin containing T-complex polypeptide 1, subunit 6B||610730|R, REc|||| | ||
17.330|4|8|08|17q12|CISD3, MINER2|P|CDGSH iron sulfur domain protein 3||611933|R, REc|||| | ||
17.331|3|30|12|17q12|DEL17q12, C17DELq12|P|Chromosome 17q12 deletion syndrome||614527|Ch|||Chromosome 17q12 deletion syndrome (4)| | ||
17.332|3|30|12|17q12|DUP17q12, C17DUPq12|P|Chromosome 17q12 duplication syndrome||614526|Ch|||Chromosome 17q12 duplication syndrome (4)| | ||
17.333|8|1|05|17q12|FBXO47|P|F-box only protein 47||609498|REc|||| | ||
17.334|1|31|13|17q12|GPR179, GPR158L, GPR158L1, CSNB1E|P|G protein-coupled receptor 179||614515|REc|||Night blindness, congenital stationary (complete), 1E, autosomal|recessive, 614565 (3) | |11(Gpr179)|
17.335|4|23|08|17q12|HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11|C|HNF1 homeobox B (transcription factor 2)||189907|REa|||Renal cysts and diabetes syndrome, 137920 (3); Diabetes mellitus,|noninsulin-dependent, 125853 (3); {Renal cell carcinoma}, 144700 (3) | |11(Hnf2)|
17.336|1|21|09|17q12|HPC11|P|Prostate cancer, hereditary, 11||611955|Fd|associated with rs4430796 and rs7501939||{Prostate cancer, hereditary, 11} (2)| | ||
17.337|2|25|98|17q21.2|KRT12|C|Keratin 12||601687|R, Fd, A|||Meesmann corneal dystrophy, 122100 (3)| | ||
17.338|12|2|10|17q12|LHX1, LIM1|P|LIM/homeodomain protein LHX1||601999|REc, A|previously mapped to 11p13-p12 by FISH||| | |11(Lhx1)|
17.339|2|1|11|17q12|MED1, PPARBP, PBP, TRAP220|C|Mediator complex subunit 1 (peroxisome proliferator-activated|receptor-binding protein)|604311|A|||| | ||
17.340|4|7|97|17q12|NEUROD2|P|Neurogenic differentiation 2||601725|A|||| | |11(Neurod2)|
17.341|9|12|11|17q12|PBC5|P|Biliary cirrhosis, primary, 5||614221|Fd|associated with rs9303277||Biliary cirrhosis, primary, 5 (2)| | ||
17.342|2|18|08|17q12|PERLD1, CAB2, MGC9753|P|PER1-like domain-containing protein 1||611801|REc|||| | ||
17.343|10|25|12|17q12|PEX12, PBD3A|P|Peroxisome biogenesis factor 12||601758|H, REc|||Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3);|Peroxisome biogenesis disorder 3B, 266510 (3) | |11(Pex12)|
17.344|8|25|06|17q12|PIGW|P|Phosphatidylinositol glycan, class W||610275|REc|||| | ||
17.345|2|24|98|17q12|PSMB3|P|Proteasome subunit, beta type, 3||602176|A, REc|previously assigned to 2q35||| | ||
17.346|8|18|08|17q12|RASL10B, RRP17|P|Ras-like, family 10, member B||612128|REc|||| | ||
17.347|11|28|05|17q12|RFFL|P|Ring finger and FYVE-like domain containing 1 (rififylin)||609735|R, REc|||| | |11(Rffl)|
17.348|10|13|04|17q12|RNF110, ZNF144, MEL18|P|Ring finger protein 110|(zinc finger protein-144)|600346|A, H, REc|previously assigned to 12q22||| | |10(Mel18)|
17.349|12|17|12|17q12|SLFN5|P|Schlafen family, member 5||614952|REc|||| | ||
17.350|11|30|12|17q12|SLFN11|P|Schlafen family, member 11||614953|REc|||| | ||
17.351|12|17|12|17q12|SLFN12|P|Schlafen family, member 12||614955|REc|||| | ||
17.352|12|17|12|17q12|SLFN12L|P|Schlafen family, member 12-like||614956|REc|||| | ||
17.353|12|17|12|17q12|SLFN13|P|Schlafen family, member 13||614957|REc|||| | ||
17.354|12|17|12|17q12|SLFN14|P|Schlafen family, member 14||614958|REc|||| | ||
17.355|2|22|07|17q12|SNIP, KIAA1684|P|SNAP25-interacting protein||610786|REc|||| | ||
17.356|5|12|09|17q11.2|SPACA3, LYZL3, SLLP1, LYC3, ALLP17|C|Sperm acrosome-associated 3||612749|REc|||| | ||
17.357|5|12|03|17q12|TBC1D3, PRC17, TBC1D3A|P|TBC1D3 gene||607741|REc|||| | ||
17.358|10|27|08|17q12|TBC1D3B, PRC17|C|TBC1 domain family, member 3B||610144|REc|||| | ||
17.359|3|12|07|17q12|TBC1D3C|P|TBC1 domain family, member 3C||610806|REc|||| | ||
17.360|1|24|03|17q12|TCAP, LGMD2G, CMD1N|C|Telethonin||604488|Fd, REc|||Muscular dystrophy, limb-girdle, type 2G, 601954 (3);|Cardiomyopathy, dilated, 1N, 607487 (3) | ||
17.361|12|2|10|17q12|ZNHIT3, TRIP3|P|Zinc finger HIT domain-containing protein 3||604500|REc|||| | ||
17.362|10|5|10|17q21.31|ARL4D, ARF4L|P|ADP-ribosylation factor-like 4D||600732|REc, Psh|||| | ||
17.363|3|20|06|17q21.2|COASY|P|Coenzyme A synthase||609855|REc|||| | ||
17.364|3|4|94|17q21.2|IGFBP4|P|Insulin-like growth factor-binding protein-4||146733|A|||| | ||
17.365|9|27|13|17q21.2|KRT9, EPPK|C|Keratin 9||607606|Fd, REa|||Palmoplantar keratoderma, epidermolytic, 144200 (3)| | ||
17.366|10|7|13|17q21.2|KRT14|C|Keratin 14||148066|REa|||Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3);|Epidermolysis bullosa simplex, Koebner type, 131900 (3); Epidermolysis bullosa simplex, recessive 1, 601001 (3); Naegeli-Franceschetti-Jadassohn|syndrome, 161000 (3); Dermatopathia pigmentosa reticularis, 125595 (3); Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)||Bonifas (1992); Coulombe (1992)
17.367|4|25|13|17q21.2|KRT16, FNEPPK|C|Keratin 16||148067|REa, Fd|probably 17q21-q22||Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 (3);|Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3) | ||
17.368|8|20|98|17q21.2|KRT17, PC2, PCHC1|C|Keratin 17||148069|REn, Fd|~5' to KRT16; probably 17q21-q22||Pachyonychia congenita, Jackson-Lawler type, 167210 (3);|Steatocystoma multiplex, 184500 (3) | ||
17.369|3|22|07|17q21.2|KRT20, CD20, KRT21|P|Keratin 20||608218|REn|||| | ||
17.370|9|12|08|17q21.2|KRTAP1-1, KAP1.1, KAP1.7, KAP1.6|P|Keratin-associated protein 1-1||608819|REc|||| | ||
17.371|9|12|08|17q21.2|KRTAP1-3, KAP1.3, KAP1.2, KAP1.9|P|Keratin-associated protein 1-3||608820|REc|||| | ||
17.372|9|12|08|17q21.2|KRTAP1-4, KAP1.4|P|Keratin-associated protein 1-4||608821|REc|||| | ||
17.373|9|12|08|17q21.2|KRTAP-15, KAP1.5|P|Keratin-associated protein 1-5||608822|REc|||| | ||
17.374|2|18|08|17q21.2|TNS4, CTEN|P|Tensin 4||608385|REc|||| | ||
17.375|3|12|07|17q12|TBC1D3D|P|TBC1 domain family, member 3D||610807|REc|||| | ||
17.376|3|12|07|17q12|TBC1D3E|P|TBC1 domain family, member 3E||610808|REc|||| | ||
17.377|3|12|07|17q12|TBC1D3F|P|TBC1 domain family, member 3F||610809|REc|||| | ||
17.378|3|12|07|17q12|TBC1D3G|P|TBC1 domain family, member 3G||610810|REc|||| | ||
17.379|3|12|07|17q12|TBC1D3H|P|TBC1 domain family, member 3H||610811|REc|||| | ||
17.380|3|7|08|17q21.2|KRT31, KRTHA1, HA1|P|Keratin 31||601077|REc|||| | ||
17.381|3|8|08|17q21.2|KRT32, KRTHA2, HA2|P|Keratin 32||602760|A|||| | ||
17.382|3|8|08|17q21.2|KRT33A, KRTHA3A, HA3I|P|Keratin 33A||602761|REc|||| | ||
17.383|3|8|08|17q21.2|KRT33B, KRTHA3A, HA3II|P|Keratin 33B||602762|REc|||| | ||
17.384|3|7|08|17q21.2|KRT34, KRTHA4, HA4|P|Keratin 34||602763|REc|||| | ||
17.385|3|7|08|17q21.2|KRT35, KRTHA5|P|Keratin 35||602764|REn|||| | ||
17.386|3|7|08|17q21.2|KRT36, KRTHA6, HA6|P|Keratin 36||604540|REc|||| | ||
17.387|3|7|08|17q21.2|KRT37, KRTHA7, HA7|P|Keratin 37||604541|REc|||| | ||
17.388|3|7|08|17q21.2|KRT38,  KRTHA8, HA8|P|Keratin 38||604542|REc|||| | ||
17.389|5|27|97|17q21.31|MPP2, DLG2|P|Membrane protein, palmitoylated-2 (MAGUK p55 subfamily member 2)||600723|RE|||| | ||
17.390|5|27|97|17q21.31|MPP3, DLG3|P|Membrane protein, palmitoylated-3 (MAGUK p55 subfamily member 3)||601114|REc, A|||| | ||
17.391|3|3|94|17q21.31|PPY|C|Pancreatic polypeptide||167780|REa, Fd, H, REn|in rat, close to GH||| | |?11(Ppy)|
17.392|1|31|01|17q21.31|PSME3, PA28G|P|Proteasome activator subunit 3||605129|REc, A|||| | |14(Psme3)|
17.393|6|1|12|17q21.31|SOST, VBCH, CDD|C|Sclerostin||605740|Fd, REc|||Sclerosteosis, 269500 (3); Van Buchem disease, 239100 (3);|Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3) | ||
17.394|4|26|10|17q12|TADA2L, TADA2A, ADA2A|P|Transcriptional adaptor 2A||602276|A|||| | ||
17.395|9|2|96|17q12-q21|WT4|C|Wilms tumor-4||601363|Fd|||Wilms tumor, type 4 (2)| | ||
17.396|7|27|07|17q12|ZPBP2, ZPBPL|P|Zona pellucida-binding protein 2||608499|REc|||| | ||
17.397|9|24|08|17q12|GGNBP2, DIF3, LCRG1, LZK1|P|Gametogenetin-binding protein 2||612275|REc|||| | ||
17.398|2|14|01|17q21.31|RAMP2|C|Receptor activity-modifying protein 2||605154|R|||| | |11(Ramp2)|
17.399|9|9|08|17q21.2|CCR7, CMKBR7, EBI1|P|Chemokine (C-C) receptor 7 (Epstein-Barr virus induced gene 1)||600242|REa, A|||| | ||
17.400|2|16|04|17q21.1|MLN51, CASC3|P|MLN51 gene||606504|A|||| | ||
17.401|7|12|13|17q21.33|SGCA, ADL, DAG2, LGMD2D, DMDA2|C|Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)||600119|Psh, A|||Muscular dystrophy, limb-girdle, type 2D, 608099 (3)| | ||
17.402|10|15|95|17q21.31|CRHR1, CRHR|P|Corticotropin releasing hormone receptor 1||122561|Psh|||| | ||
17.403|4|11|94|17q21.32|CDC27|P|Cell division cycle 27||116946|Psh, H|between ERBB2 and PRKCA||| | |11(Cdc27)|
17.404|5|23|11|17q12|ACACA, ACAC, ACC1, ACACAD|C|Acetyl-Coenzyme A carboxylase, alpha||200350|A|proximal to q21.33; others put at 17q12||Acetyl-CoA carboxylase deficiency, 613933 (1)| | ||
17.405|3|16|99|17q21.31|AOC2, RAO|P|Amine oxidase, copper-containing, 2||602268|A|||| | ||
17.406|6|25|99|17q21.31|AOC3, HPAO, VAP1|P|Amine oxidase, copper-containing 3||603735|TM|||| | ||
17.407|11|20|06|17q21.31|ARHGAP27, CAMGAP1|P|RHO GTPase-activating protein 27||610591|REc|||| | ||
17.408|2|29|08|17q21|ASRT6|P|Asthma-related traits, susceptibility to, 6||611403|Fd|strongly associated with rs7216389||{Asthma-related traits, susceptibility to, 6} (2)| | ||
17.409|1|8|08|17q21.2|ATP6V0A1, ATP6N1A, VPP1|C|ATPase, H+ transporting, lysosomal, V0 subunit A1||192130|REa, REn|||| | |11(Atp6n1)|
17.410|4|30|09|17q21|AUTS7|P|Autism, susceptibility to, 7||610676|Fd|max lod at D17S2180||{Autism susceptibility 7} (2)| | ||
17.411|1|4|00|17q21.31|BECN1|P|Beclin 1||604378|REc, A|||| | ||
17.412|11|3|11|17q21.31|BRCA1, PSCP, BROVCA1, PNCA4|C|Breast cancer-1 gene||113705|Fd, REc|||{Breast-ovarian cancer, familial, 1}, 604370 (3); {Pancreatic cancer,|susceptibility to, 4}, 614320 (3) | |11(Brca1)|
17.413|11|20|13|17q12|CDK12, CRKRS, CRK7, KIAA0904|C|Cyclin-dependent kinase 12||615514|REc, R|||| | |11(Cdk12)|
17.414|12|7|07|17q21.31|C1QL1, CRF, C1QRF|P|Complement component 1, q subcomponent-like 1||611586|A|||| | ||
17.415|7|13|93|17q21.2|CNP, CNP1|C|2', 3' cyclic nucleotide 3' phosphohydrolase||123830|REa, A, Psh, Fd, REb|flanked by THRA1 and NGFR||| | |11(Cnp)|
17.416|9|14|95|17q21.31|ETV4|P|ETS variant gene-4 (E1A enhancer-binding protein, E1AF)||600711|REa, REc, A|||| | ||
17.417|12|17|07|17q21.31|DBF4B, DRF1, ASKL1|P|DBF4, S. cerevisiae, homolog of, B||611661|REc|||| | ||
17.418|1|14|97|17q21.31|DUSP3, VHR|C|Dual specificity phosphatase-3 (vaccinia virus phosphatase|VH1-related)|600183|REn, RE|||| | ||
17.419|2|24|97|17p13.1|FGF11, FHF3|P|Fibroblast growth factor-11||601514|REa, REl|||| | |11(Fhf3)|
17.420|12|22|00|17q21.31|FMNL, C17orf1B|P|Formin-like||604656|A, R|||| | ||
17.421|3|27|95|17q21.31|G6PC, G6PT|C|Glucose-6-phosphatase, catalytic||613742|REa, REn|||Glycogen storage disease Ia, 232200 (3)| | ||
17.422|6|7|11|17q21.31|G6PC3, UGRP, SCN4|P|Glucose-6-phosphatase, catalytic, 3||611045|REc|||Neutropenia, severe congenital 4, autosomal recessive, 612541 (3);|Dursun syndrome, 612541 (3) | ||
17.423|3|3|94|17q21.2|GAS, GAST|C|Gastrin||137250|REa|||| | |11(Gast)|
17.424|1|8|01|17q21.31|GFAP|C|Glial fibrillary acidic protein||137780|REa, A|||Alexander disease, 203450 (3)| | |11(Gfap)|
17.425|1|13|11|17q21.32|GNGT2|P|Guanine nucleotide-binding protein, gamma-transducing activity|polypeptide 2|139391|A|||| | ||
17.426|7|1|11|17q21.32|GOSR2, GS27, EPM6|P|Golgi snap receptor complex member 2||604027|R, A|||Epilepsy, progressive myoclonic 6, 614018 (3)| | ||
17.427|10|13|09|17q21.1|GSDMA, GSDM1, GSDM|C|Gasdermin A||611218|REc, H|||| | |11(Gsdma1-3)|
17.428|10|1|09|17q12|GSDMB, GSDML|P|Gasdermin B||611221|REc|||| | ||
17.429|1|6|09|17q21.2|HCRT, OX, NRCLP1|P|Hypocretin||602358|R|||Narcolepsy 1, 161400 (3)| | ||
17.430|1|8|97|17q21.31|IFI35|C|Interferon-induced protein-35||600735|REc|||| | ||
17.431|8|10|07|17q12|IKZF3, ZNFN1A3, AIOLOS|P|Ikaros family zinc finger 3||606221|A|||| | ||
17.432|11|13|07|17q21.2|JUP, DP3, PDGB, ARVD12|C|Junction plakoglobin||173325|REa, Fd|incorrectly mapped to 7; close to BRCA1||Naxos disease, 601214 (3); Arrhythmogenic right ventricular|dysplasia 12, 611528 (3) | |11(Jup, Pkgb)|
17.433|5|12|09|17q21.2|KAT2A, GCN5L2, GCN5|C|K(lysine) acetyltransferase 2A||602301|A|||| | |11(Gcn5l2)|
17.434|1|24|01|17q21.32|KPNB1|P|Karyopherin beta-1||602738|A|||| | |11(Kpnb1)|
17.435|3|21|03|17q12|LASP1, MLN50|C|LIM and SH3 protein 1||602920|Ch, H|fused to MLL in AML||| | |11(Lasp1)|
17.436|9|14|00|17q21.31|MAP3K14, NIK, HSNIK|P|Mitogen-activated protein kinase kinase kinase-14||604655|A, R|||| | ||
17.437|2|22|13|17q21.31|MEOX1, MOX1, KFS2|C|Mesenchyme homeo box 1 (Mox1, mouse, homolog of)||600147|RE|||Klippel-Feil syndrome 2, 214300 (3)| | ||
17.438|3|2|98|17q12|MLLT6, AF17|P|Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6||600328|Ch|||| | ||
17.439|1|20|06|17q21.33|MYCBPAP, AMAP1|P|MYCBP-associated protein||609835|REc|||| | ||
17.440|2|2|11|17q21.2|NAGLU, MPS3B|C|N-acetylglucosaminidase, alpha-||609701|REn|||Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)| | ||
17.441|3|26|02|17q21.32|NPEPPS, PSA, MP100|P|Aminopeptidase, puromycin-sensitive||606793|A|||| | |11(Psa)|
17.442|8|20|99|17q21.2|NRXN4, CASPR, P190|P|Neurexin 4 (contactin-associated protein)||602346|REc|||| | ||
17.443|3|29|10|17q21.33|PHB|C|Prohibitin||176705|REa, A|||{Breast cancer, susceptibility to}, 114480 (3)| | ||
17.444|4|13|10|17q21.2|PTRF, CAVIN, CGL4|P|RNA polymerase I and transcript release factor||603198|REc, H|||Lipodystrophy, congenital generalized, type 4, 613327 (3)| | |11(Ptrf)|
17.445|2|19|10|17q21.31|PYY|P|Peptide YY||600781|A|10kb from PPY||{Obesity}, 601665 (3)| | ||
17.446|8|3|12|17q21.31|RND2, ARHN, RHO7|P|Ras homolog gene family, member N|(GTP-binding protein Rho7)|601555|REn|||| | ||
17.447|12|29|09|17q21.2|STAT3, APRF, HIES|P|Signal transducer and activator of transcription-3 (acute-phase|response factor)|102582|A|||Hyper-IgE recurrent infection syndrome, 147060 (3)| | |11(Stat3)|
17.448|1|8|01|17q21.33|TOB1, TOB|P|Transducer of ERBB2, 1||605523|REc|||| | ||
17.449|9|23|13|17q21.2|TUBG1, CDCBM4|P|Tubulin, gamma 1||191135|R|||Cortical dysplasia, complex, with other brain malformations 4,|615412 (3) | ||
17.450|4|4|01|17q21.2|TUBG2|P|Tubulin, gamma 2||605785|R|pseudogene on chr. 7||| | ||
17.451|3|9|00|17q21.31|VAT1|P|Vesicle amine transport protein 1||604631|REn|||| | ||
17.452|6|23|04|17q21.31|WNT3, INT4|C|Wingless-type MMTV integration site family, member 3||165330|REa, S, A, H|||Tetra-amelia, autosomal recessive, 273395 (3)| | |11(Wnt4)|
17.453|8|10|98|17q21.32|WNT15|C|Wingless-type MMTV integration site family, member 15||602864|REa, H, R|||| | |11(Wnt15)|
17.454|4|29|97|17q12|CACNB1, CACNLB1, CCHLB1|P|Calcium channel, voltage-dependent, beta 1 subunit||114207|REa|||| | ||
17.455|11|28|01|17q12|GRB7|P|Growth factor receptor-bound protein 7||601522|REc|||| | |11(Grb7)|
17.456|7|26|12|17q21.32|HOXB1, HOX2I, HCFP3|C|Homeo box-B1||142968|RE|||Facial paresis, hereditary congenital, 3, 614744 (3)| | |11(Hox2.9)|
17.457|1|20|95|17q21.32|HOXB2, HOX2H|C|Homeo box-B2||142967|RE|||| | |11(Hox2.8)|
17.458|1|20|95|17q21.32|HOXB3, HOX2G|C|Homeo box-B3||142966|RE|||| | |11(Hox2.7)|
17.459|1|20|95|17q21.32|HOXB4, HOX2F|C|Homeo box-B4||142965|RE|||| | |11(Hox2.6)|
17.460|1|20|95|17q21.32|HOXB5, HOX2A|C|Homeo box-B5||142960|REa, A, H, Fd, RE|||| | |11(Hox2.2)|
17.461|1|20|95|17q21.32|HOXB6, HOX2B|C|Homeo box-B6||142961|RE|||| | |11(Hox2.2)|
17.462|1|20|95|17q21.32|HOXB7, HOX2C|C|Homeo box-B7||142962|RE|||| | |11(Hox2.3)|
17.463|1|20|95|17q21.32|HOXB8, HOX2D|C|Homeo box-B8||142963|RE|||| | |11(Hox2.4)|
17.464|1|20|95|17q21.32|HOXB9, HOX2E|C|Homeo box-B9||142964|RE|||| | |11(Hox2.5)|
17.465|8|20|07|17q21-q22|HPC9|P|Prostate cancer, hereditary, 9||610997|Fd|max LOD at D17S1820||{Prostate cancer, hereditary, 9} (2)| | ||
17.466|12|21|10|17q21.2|KRT10, EHK, BCIE, BIE|C|Keratin 10||148080|REa, A, REn|in cluster of class I keratins||Epidermolytic hyperkeratosis, 113800 (3); Ichthyosis, cyclic, with|epidermolytic hyperkeratosis, 607602 (3); Ichthyosis with confetti, 609165 (3) | ||Cheng (1992)
17.467|1|5|96|17q21.2|KRT13|P|Keratin 13||148065|Psh, A, REn|in same PFGE fragment as KRT10, KRT15||White sponge nevus, 193900 (3)| | ||
17.468|10|4|91|17q21.2|KRT15|C|Keratin 15||148030|H, REa, A, REn|tightly linked to Hox-2 in mouse||| | |11(Krt1)|
17.469|6|9|98|17q21.2|KRT19|P|Keratin 19||148020|REa|probably 17q21-q22||| | ||
17.470|3|23|09|17q21.32|MIR196A1, MIRN196A1|P|Micro RNA 196A1||608632|REc|||| | ||
17.471|2|19|04|17q21-q22|MYP5|P|Myopia 5||608474|Fd|between D17S787 and D17S1811||Myopia 5 (2)| | ||
17.472|6|6|89|17q21.33|NGFR, TNFRSF16|C|Nerve growth factor receptor||162010|REa, A, S, Fd, C|distal to APL breakpoint, q21; < 0.5mb from HOX2||| | |11(Ngfr)|
17.473|8|15|97|17q21.31|NSF|P|N-ethylmaleimide-sensitive factor||601633|Psh, A|||| | |11(Nsf)|
17.474|8|24|98|17q12|PNMT, PENT|C|Phenylethanolamine N-methyltransferase||171190|REa, Fd|||?Hypertension, essential, 145500 (1)| | ||
17.475|8|18|08|17q21-q22|RNU2-1, RNU2|C|RNA, U2 small nuclear, 1||180690|REa, A, C|||| | ||
17.476|7|17|01|17q22|PCTP|P|Phosphatidylcholine transfer protein||606055|R|||| | |11(Pctp)|
17.477|3|10|00|17q21-q22|PTLAH, FPAH|P|Patella aplasia or hypoplasia||168860|Fd|||Patella aplasia or hypoplasia (2)| | ||
17.478|10|15|95|17q21.31|SHCL1|P|SHC (Src homology 2 domain-containing) transforming protein-like 1||600739|A|||| | ||
17.479|3|11|09|17q21.31|SLC4A1, AE1, EPB3|C|Solute carrier family 4, anion exchanger, member 1 (erythrocyte|membrane protein band 3, Diego blood group)|109270|REa, RE, Fd, A|||Ovalocytosis (3); Spherocytosis, type 4, 612653 (3); [Malaria,|resistance to], 611162 (3); Renal tubular acidosis, distal, AD, 179800 (3); Renal tubular acidosis, distal, AR, 611590 (3); [Blood group,|Diego], 110500 (3); [Blood group, Waldner], 112010 (3); [Blood group, Wright], 112050 (3); [Blood group, Froese], 601551 (3); [Blood group, Swann], 601550 (3)||
17.480|6|23|04|17q23.2|TBX4|P|T-box 4||601719|REc|||Small patella syndrome, 147891 (3)| | ||
17.481|5|26|05|17q21.2|TOP2A, TOP2|C|Topoisomerase (DNA) II, alpha, 170kD||126430|REa, A|||DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)| | |11(Top2a)|
17.482|2|27|12|17q21.31|WNK4, PRKWNK4, PHA2B|C|WNK lysine deficient protein kinase 4||601844|Fd, REc|||Pseudohypoaldosteronism, type IIB, 614491 (3)| | ||
17.483|2|25|98|17q21-q23|HTLVR|C|Receptor for HTLV-1 and HTLV-2||143090|REa|||| | ||
17.484|6|28|94|17q21.2|ACLY|C|ATP citrate lyase||108728|H, REa, R|||| | |?11(Atpcl)|
17.485|12|22|08|17q12|DDX52, ROK1, HUSSY19|P|DEAD box polypeptide 52||612500|R|||| | ||
17.486|5|27|05|17q12|ERBB2, NGL, NEU, HER2|C|Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 2|(neuro/glioblastoma derived oncogene homolog)|164870|REa, A, R, Fd|||Adenocarcinoma of lung, somatic, 211980 (3); Glioblastoma, somatic,|137800 (3); Gastric cancer, somatic, 613659 (3); Ovarian cancer, somatic, (3)| ||
17.487|7|1|97|17q21.31|FZD2|P|Frizzled, Drosophila, homolog of, 2||600667|A|||| | |11(Fzd2)|
17.488|12|28|07|17q21.2|GJD3, GJC1, CX31.9|P|Gap junction protein, delta-3 (31.9kD)||607425|REc|||| | ||
17.489|11|15|10|17q21.31|MAPT, MTBT1, DDPAC, MSTD|C|Microtubule-associated protein tau||157140|REb, A, R, Fd|see 6p21||Dementia, frontotemporal, with or without parkinsonism, 600274 (3);|Pick disease, 172700 (3); Supranuclear palsy, progressive, 601104 (3); Supranuclear palsy, progressive atypical, 260540 (3); {Parkinson disease,|susceptibility to}, 168600 (3); Tauopathy and respiratory failure (3) |11(Mapt)|
17.490|2|1|11|17q21.1|MED24, TRAP100, KIAA0130|P|Mediator complex subunit 24||607000|R, REc|||| | ||
17.491|3|17|08|17q21.2|MLX, TCFL4|P|MAX-like protein X||602976|REc|||| | ||
17.492|8|23|94|17q21.31|NBR1, M17S2|C|Neighbor of BRCA1 gene 1|(membrane component, chromosome 17, surface marker 2)|166945|A, REn|||| | ||
17.493|11|5|08|17q12|ORMDL3|P|ORM1-like protein 3||610075|REc|||| | ||
17.494|11|30|06|17q12|PLXDC1, TEM7|P|Plexin domain containing 1||606826|R|||| | ||
17.495|10|30|08|17q21.2|RARA|C|Retinoic acid receptor, alpha polypeptide||180240|A, Ch|fused with MYL in APL||Leukemia, acute promyelocytic, 612376 (1)| | |11(Rara)|
17.496|7|17|02|17q21.31|STH|P|Saitohin||607067|REn|in intron 9 of TAU||| | ||
17.497|8|20|07|17q12|CCL11, SCYA11|C|Chemokine, C-C motif, ligand 11||601156|REa, A|||{HIV1, resistance to}, 609423 (3); {Asthma, susceptibility to},|600807 (3) | ||
17.498|8|29|02|17q12|CCL23, SCYA23|P|Chemokine, C-C motif, ligand 23||602494|REn|||| | ||
17.499|3|18|10|17q21.31|RPL27|P|Ribosomal protein L27||607526|REa, R|||| | ||
17.500|5|8|97|17q21.2|EZH1|P|Enhancer of zeste, Drosophila, homolog of, 1||601674|REn|||| | |11(Ezh1)|
17.501|1|12|95|17q21.2|GPR2|P|G protein-coupled receptor-2||600240|A|||| | |11(Gpr2)|
17.502|8|10|06|17q21.32|B4GALGT2, GALGT2, SD|P|Beta-1,4-N-acetyl-galactosaminyl transferase 2||111730|REc|||| | |11(B4galnt2)|
17.503|3|15|11|17q21.2|CDC6, CDC18L|P|Cell division cycle 6, S. cerevisiae, homolog of||602627|REc|||Meier-Gorlin syndrome 5, 613805 (3)| | ||
17.504|4|30|09|17q21.2|DHX58, LGP2, D11LGP2|P|DEAH (Asp-Glu-Ala-His) box polypeptide 58||608588|REc|||| | |11(Lgp2)|
17.505|6|13|12|17q12|FBXL20, FBL20, FBL2, SCR|p|F-box and leucine-rich repeat protein 20||609086|REc|||| | |11(Fbxl20)|
17.506|2|2|12|17q21.2|FKBP10, FKBP65, OI11|P|FK506-binding protein 10||607063|R, REc|||Osteogenesis imperfecta, type XI, 610968 (3)| | ||
17.507|3|9|00|17q21.32|HOXB13|P|Homeo box B13||604607|A|||| | |11(Hoxb13)|
17.508|5|8|13|17q21.2|HSD17B1, EDH17B2|C|Estradiol 17-beta-dehydrogenase-1||109684|A, REa|||| | ||
17.509|1|14|09|17q21.2|IBD22|P|Inflammatory bowel disease 22||612380|Fd|associated with rs744166||{Inflammatory bowel disease 22} (2)| | ||
17.510|3|1|13|17q21.2|KLHL10, SPGF11|P|Kelch-like 10||608778|REc, H|||Spermatogenic failure 11, 615081 (3)| | |11(Klhl10)|
17.511|11|13|13|17q21.2|KRT23|P|Keratin 23||606194|REc|||| | ||
17.512|5|7|03|17q21.32|OSBPL7, ORP7|C|Oxysterol-binding protein-like protein 7||606735|REc|||| | ||
17.513|11|3|11|17q21.2|PSMC3IP, TBPIP, GT198, HOP2, ODG3|C|PSMC3-interacting protein||608665|REc, R|||Ovarian dysgenesis 3, 614324 (3)| | ||
17.514|10|26|99|17q21.2|RAB5C, RABL|C|Ras-associated protein RAB5c||604037|REc, A|||| | ||
17.515|7|12|13|17q21.2|SMARCE1, BAF57|P|SWI/SNF-related, matrix-associated, actin-dependent regulator of|chromatin, subfamily E, member 1|603111|REc|||{Meningioma, familial, susceptibility to}, 607174 (3)| | ||
17.516|12|23|05|17q21.1-q21.2|WIRE, WICH|P|WASP-interacting protein-related protein||609692|R, REc|||| | ||
17.517|10|30|08|17q21.2|HAP1, HLP, HAP2|C|Huntingtin-associated protein 1 (neuroan 1)||600947|H, A|||| | |11(Hap1)|
17.518|12|11|98|17q21.31|ADAM11, MDC|P|A disintegrin and metalloproteinase domain 11||155120|REc|||| | ||
17.519|4|17|07|17q21.33|EME1|P|Essential meiotic endonuclease 1, S. pombe, homolog of, 1||610885|REc|||| | |11(Eme1)|
17.520|11|19|98|17q21.3|ERDA1|P|Expanded repeat domain, CAG/CTG, 1||603279|A|no apparent pathology||| | ||
17.521|4|27|12|17q21.32|HOXBAS5, PRAC2|P|HOXB cluster antisense RNA 5||610787|REc|||| | ||
17.522|12|4|03|17q21.32|IGF2BP1, IMP1, CRDBP, ZBP1|P|Insulin-like growth factor 2 mRNA-binding protein 1||608288|A|||| | |11(Crdbp)|
17.523|3|15|10|17q21.33|LUC7L3, CROP, LUC7A|P|Luc7, S. cerevisiae, homolog of, 3||609434|R, REc|||| | ||
17.524|2|26|08|17q21.32|MRPL10, MRPL8|P|Mitochondrial ribosomal protein L10||611825|R|||| | ||
17.525|11|28|01|17q21.32|NESH|P|NESH protein||606363|Psh, R|||| | ||
17.526|5|17|95|17q21.32|NFE2L1, NRF1|C|Nuclear factor, erythroid-derived 2-like 1||163260|A|||| | |11(Nfe2l1)|
17.527|3|17|98|17q21.33|NME1, NM23|C|Non-metastatic cells 1, protein (NM23A) expressed in||156490|A, Fd, REa|||Neuroblastoma, 256700 (3)| | ||
17.528|5|27|93|17q21.33|NME2|C|Non-metastatic cells 2, protein (NM23) expressed in||156491|REa, A, REn|||| | ||
17.529|10|3|07|17q21.31|PLEKHM1, AP162, KIAA0356, OPTB6|P|Pleckstrin homology domain-containing protein, family M, member 1||611466|R, REc|||Osteopetrosis, autosomal recessive 6, 611497 (3)| | ||
17.530|2|21|07|17q21.32|PRAC1|P|Prostate, rectum, and colon gene||609819|REc|||| | ||
17.531|3|19|08|17q21.31|RUNDC3A, RPIP8|P|RUN domain contain 3A||605448|REc|||| | ||
17.532|7|19|12|17q21.33|RAC4, PPTC, HK1|P|Tachykinin 4||607833|REc|||| | ||
17.533|12|17|12|17q21.32|SCRN2, SES2|P|Secernin 2||614966|REc|||| | ||
17.534|4|17|06|17q21.32|TBX21, TBET|P|T-box 21||604895|REc, H|||{Asthma, aspirin-induced, susceptibility to}, 208550 (3); Asthma and|nasal polyps, 208550 (3) | |11(Tbx21)|
17.535|6|25|99|17q21.31|UBTF, UBF|P|Upstream binding transcription factor, RNA polymerase I||600673|A, R|||| | ||
17.536|4|17|07|17q21.31|VPS25, FAP20|P|Vacuolar protein sorting 25, S. cerevisiae, homolog of||610907|REc|||| | ||
17.537|4|17|07|17q21.33|WFIKKN2, WFIKKNRP|P|WAP, fillistatin, immunoglobulin, Kunitz, and NTR domains-containing|protein 2|610895|REc|||| | ||
17.538|3|28|05|17q21.33|DLX3, TDO, AI4|C|Distal-less homeo box-3||600525|REa, A, Fd|||Trichodontoosseous syndrome, 190320 (3); Amelogenesis imperfecta,|hypomaturation-hypoplastic type, with taurodontism, 104510 (3) | ||
17.539|8|4|97|17q21.33|DLX4, DLX7, DLX8|P|Distal-less homeo box-4||601911|A|||| | ||
17.540|3|20|94|17q21.32|GIP|C|Gastric inhibitory polypeptide||137240|REa, A|||| | |11(Gip)|
17.541|2|28|08|17q21.33|MRPL27|P|Mitochondrial ribosomal protein L27||611837|R|||| | ||
17.542|12|19|11|17q22|SRSF1, SFRS1, ASF, SF2, SRp30a|P|Splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate|splicing factor)|600812|REa, A|||| | |11(Sfrs1)|
17.543|1|10|07|17q21.33|XYLT2, XT2|P|Xylosyltransferase 2||608125|R|||{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)| | ||
17.544|2|16|10|17q21.31|AARSD1|P|Alanyl-tRNA synthetase domain-containing 1||613212|REc|||| | ||
17.545|1|31|13|17q21.31|ASB16|P|Ankyrin repeat- and SOCS box-containing protein 16||615056|REc|||| | ||
17.546|6|13|12|17q21.31|CCDC103, SMH, PR46B, CILD17|P|Coiled-coil domain-containing protein 103||614677|REc|||Ciliary dyskinesia, primary, 17, 614679 (3)| | ||
17.547|5|24|13|17q21.31|CD300LG, TREM4, CLM9|P|CD300 antigen-like family, member G||610520|REc|||| | ||
17.548|8|21|12|17q21.31|COA3, CCDC56|P|Cytochrome c oxidase assembly factor 3||614775|REc|||| | ||
17.549|1|27|11|17q21.31|DUP17q21.31, C17DUPq21.31|P|Chromosome 17q21.31 duplication syndrome||613533|Ch|contiguous gene duplication syndrome||Chromosome 17q21.31 duplication syndrome (4)| | ||
17.550|10|29|03|17q21.32|CDK5RAP3|P|CDK5 regulatory subunit-associated protein 3||608202|REc|||| | ||
17.551|4|30|09|17q21.31|DHX8, DDX8, HRH1|P|DEAH (Asp-Glu-Ala-His) box polypeptide 8||600396|REc|||| | ||
17.552|3|7|13|17q21.31|EFTUD2, KIAA0031, MFDGA|P|Elongation factor Tu GTP-binding domain-containing 2||603892|REa|||Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)| | ||
17.553|12|19|11|17q21.31|GPATCH8, KIAA0553|C|G-patch domain-containing protein 8||614396|R, REc|||| | |16(Gpatch8)|
17.554|12|5|03|17q21.31|IMP5|P|Intramembrane protease 5||608284|REc|||| | ||
17.555|10|4|12|17q21.31|KANSL1, KIAA1267, MSL1V1, KDVS|P|KAT8 regulatory NSL complex subunit 1||612452|R, REc|||Koolen-De Vries syndrome, 610443 (3)| | ||
17.556|4|19|12|17q21.31|KIF18B|P|Kinesin family member 18B||614570|REc|||| | ||
17.557|2|14|08|17q21.31|LSM12|P|LSM12, S. cerevisiae, homolog of||611793|REc|||| | ||
17.558|3|5|08|17q12|MRPL45|P|Mitochondrial ribosomal protein L45||611850|REc|pseudogenes on 2 and 17||| | ||
17.559|12|21|03|17q21.31|NAGS|C|N-acetylglutamate synthase||608300|REc|||N-acetylglutamate synthase deficiency, 237310 (3)| | |11(Nags)|
17.560|9|17|08|17q21.31|NMT1, NMT|P|N-myristoyltransferase 1||160993|REc|||| | ||
17.561|7|22|13|17q21.31|SLC25A39, CGI69|C|Solute carrier family 25, member 39||610820|REc, R|||| | |11(Slc25a39)|
17.562|10|12|10|17q21.33|COL1A1|C|Collagen I, alpha-1 polypeptide||120150|C, M, A, REa|fused with PDGFB in DFPB||Osteogenesis imperfecta, type I, 166200 (3); OI type II, 166210 (3);|OI type III, 259420 (3); OI type IV, 166220 (3); Ehlers-Danlos syndrome, type I, 130000 (3); Ehlers-Danlos syndrome, type VIIA, 130060 (3); {Osteoporosis},|166710 (3); Caffey disease, 114000 (3); [Bone mineral density variation QTL], 166710 (3)|11(Col1a1)|
17.563|4|17|13|17q21.31-q22|MRT35|P|Mental retardation, autosomal recessive 35||615162|Fd|between rs4792947 and rs11079258||Mental retardation, autosomal recessive 35, 615162 (3)| | ||
17.564|11|19|13|17q21.32|COPZ2|P|Coatomer protein complex, subunit zeta-2||615526|REc|||| | ||
17.565|7|18|12|17q21.31|GRN, CLN11|C|Granulin||138945|REa, REc, REn|||Frontotemporal lobar degeneration with ubiquitin-positive inclusions,|607485 (3); Aphasia, primary progressive, 607485 (3); Ceroid lipofuscinosis, neuronal, 11, 614706 (3)| ||
17.566|5|6|13|17q21.31|ITGA2B, GP2B, CD41B, GT, BDPLT2, BDPLT16|C|Integrin, alpha-2b (platelet glycoprotein IIb of IIb/IIIa complex,|antigen CD41B)|607759|A, REb, REa, RE, F, LD|3' to GP3A; BAK platelet antigen||Glanzmann thrombasthenia, 273800 (3); Thrombocytopenia,|neonatal alloimmune, BAK antigen related (3); Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)| ||
17.567|5|6|13|17q21.32|ITGB3, GP3A, GT, BDPLT2, BDPLT16|C|Integrin, beta-3 (platelet glycoprotein IIIa; antigen CD61)||173470|REa, REb, A, RE, F, LD|in same 260kb fragment as GP2B; PL(A) platelet antigen||Glanzmann thrombasthenia, 273800 (3); Thrombocytopenia, neonatal|alloimmune (3); {Myocardial infarction, susceptibility to}, 608446 (3); Purpura, posttransfusion (3); Bleeding disorder, platelet-type, 16,|autosomal dominant, 187800 (3) ||
17.568|5|15|11|17q21.32|MIR152, MIRN152|P|Micro RNA 152||613788|REc|||| | ||
17.569|3|22|06|17q21.33|MYST2, HBO1|P|Histone acetyltransferase MYST2||609880|R, REc|||| | ||
17.570|7|3|06|17q21.32|PNPO|P|Pyridoxamine 5'-phosphate oxidase||603287|REc, H|||Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)| | |11(Pnpo)|
17.571|8|21|00|17q21.32|RCCP3|C|Renal cell carcinoma, papillary, 3||605075|Ch, A|duplication in 17q21||Renal cell carcinoma, papillary, 3 (2)| | ||
17.572|1|30|12|17q21.32|SKAP1, SCAP1, SKAP55|P|SRC kinase-associated phosphoprotein 1, 55kD||604969|R, REc|||| | ||
17.573|4|17|07|17q21.32|SNF8, VPS22, EAP30|P|SNF8, S. cerevisiae, homolog of||610904|R, REc|||| | ||
17.574|12|10|12|17q21.32|SNX11|P|Sorting nexin 11||614906|REc|||| | ||
17.575|3|18|13|17q21.32|TBKBP1, PROSAPIP2, KIAA0775|P|TBK1-binding protein 1||608476|REc|||| | ||
17.576|3|15|07|17q21.32|TTLL6|P|Tubulin tyrosine ligase-like family, member 6||610849|REc|||| | ||
17.577|5|23|13|17q21.32-q21.33|ZNF652, KIAA0924|P|Zinc finger protein 652||613907|R, REc|||| | ||
17.578|6|10|08|17q21.33|ACSF2, FLJ20920|P|Acyl-CoA synthetase family member 2||610465|R, REc|||| | ||
17.579|6|25|99|17q21.33|CHAD|P|Chondroadherin||602178|Psh, A|||| | ||
17.580|1|27|04|17q21.33|HILS1|P|Spermatid-specific linker histone H1-like protein||608101|REc|||| | |11(Hils1)|
17.581|12|21|12|17q21.33|ITGA3, CD49C, GAPB3, ILNEB|P|Integrin, alpha-3||605025|REc|||Interstitial lung disease, nephrotic syndrome, and epidermolysis|bullosa, congenital, 614748 (3) | ||
17.582|10|11|12|17q21.33|LRRC59, p34|P|Leucine-rich repeat-containing protein 59||614854|REc|||| | ||
17.583|9|9|13|17q21.33|PDK2|P|Pyruvate dehydrogenase kinase, isoenzyme 2||602525|REc|||| | ||
17.584|3|8|07|17q21.33|SLC35B1, UGTREL1|P|Solute carrier family 35, member B1||610790|R, REc|||| | ||
17.585|4|18|02|17q21.33|SPAG9, SYD1, KIAA0516|P|Sperm-associated antigen 9||605430|R, REc|||| | ||
17.586|5|16|11|17q21.33|SPATA20, SSP411|P|Spermatogenesis-associated protein 20||613939|REc|||| | ||
17.587|12|19|12|17q21.33|SPOP|P|Speckle-type POZ protein||602650|REc, R|||| | ||
17.588|7|15|09|17q21.33|UTP18|P|UTP18, S. cerevisiae, homolog of||612816|REc|||| | ||
17.589|2|28|01|17q21.33|ABCC3, CMOAT2, MRP3, MLP2|C|ATP-binding cassette, sub-family C, member 3||604323|R, A|||| | ||
17.590|2|22|92|17q22|BCL5|P|B-cell CLL/lymphoma-5||151441|REa, A|||| | ||
17.591|10|11|05|17q23.2|BRIP1, BACH1, FANCJ|C|BRCA1-associated C-terminal helicase 1||605882|REc, Fd|?or 17q23||Breast cancer, early-onset, 114480 (3); Fanconi anemia,|complementation group J, 609054 (3) | ||
17.592|12|21|09|17q22|C17orf71, SMG8|P|Chromosome 17 open reading frame 71||613175|REc|||| | ||
17.593|5|25|00|17q21.33|CACNA1G|P|Calcium channel, voltage-dependent, T type, alpha-1G subunit||604065|A, R, H|||| | |11(Cacna1g)|
17.594|8|20|99|17q22|COX11|P|Cytochrome c oxidase, subunit 11||603648|REa|pseudogene on 6p23-p22||| | ||
17.595|1|14|13|17q22|DGKE, NPHS7|P|Diacylglycerol kinase, epsilon, 64-kD||601440|A, R|||Nephrotic syndrome, type 7, 615008 (3)| | ||
17.596|8|21|00|17q22|HLF|P|Hepatic leukemia factor||142385|Ch, R|||| | ||
17.597|4|8|13|17q22|KIF2B|P|Kinesin family member 2B||615142|REc|||| | ||
17.598|4|19|12|17q22|MMD, MMD1, PAQR11|P|Monocyte-to-macrophage differentiation-associated protein||604467|REc|||| | ||
17.599|4|29|09|17q22|NOG, SYM1, SYNS1|C|Noggin, mouse, homolog of||602991|A, R, Fd|||Symphalangism, proximal, 185800 (3); Multiple synostosis syndrome 1,|186500 (3); Tarsal-carpal coalition syndrome, 186570 (3); Stapes ankylosis with broad thumb and toes, 184460 (3); Brachydactyly, type B2, 611377 (3)| ||
17.600|11|30|06|17q25.1|PRCD, RP36|P|PRCD, Dog, homolog of||610598|REc|||Retinitis pigmentosa 36, 610599 (3)| | ||
17.601|7|8|10|17q22|RAD51C, FANCO, BROVCA3|P|RAD51, S. cerevisiae, homolog of, C||602774|REc|||Fanconi anemia, complementation group O, 613390 (3); {Breast-ovarian|cancer, familial, susceptibility to, 3}, 613399 (3) | ||
17.602|2|23|12|17q22|TEX14|C|Testis-expressed gene 14||605792|R, REc, H|||| | |11(Tex14)|
17.603|7|11|12|17q22|TOM1L1|P|TOM1-like 1||604701|REc|||| | ||
17.604|5|12|03|17q23.1-q23.2|USP32, USP10|P|Ubiquitin-specific protease 32||607740|REc|||| | ||
17.605|9|24|08|17q22|VEZF1, ZNF161|P|Vascular endothelial zinc finger 1||606747|R|||| | ||
17.606|9|30|02|17q23.2|APPBP2, PAT1|C|Amyloid beta precursor protein-binding protein 2||605324|R, REc|||| | ||
17.607|1|12|95|17q22|COIL, CLN80|P|Coilin p80||600272|A|||| | ||
17.608|2|1|11|17q23.2|MED13, THRAP1, TRAP240|P|Mediator complex subunit 13||603808|REa, REc|||| | ||
17.609|4|24|08|17q22|MRPS23|P|Mitochondrial ribosomal protein S23||611985|R, REc|||| | ||
17.610|9|30|02|17q23.2|PPM1D, WIP1|P|Protein phosphatase, magnesium-dependent, 1, delta isoform||605100|A, REc|amplified in breast cancer||Breast cancer, 114480 (3)| | ||
17.611|3|22|93|17q11.2|TNFAIP1|P|Tumor necrosis factor, alpha-induced protein-1 (endothelial)||191161|A|||| | ||
17.612|11|26|01|17q22|TRIM37, MUL, KIAA0898|C|Tripartite motif-containing 37||605073|Fd, Ld, REn|||Mulibrey nanism, 253250 (3)| | ||
17.613|3|17|98|17q24.2|PRKCA, PKCA|C|Protein kinase C, alpha polypeptide||176960|REa, A, Fd|cen-COL1A1-PKCA-GH1||Pituitary tumor, invasive (3)| | |11(Pkca)|
17.614|3|26|02|17q25.1|CMRF35, CMRF35A|P|CMRF35 antigen||606786|Psh, A|||| | ||
17.615|7|18|91|17q23.3|CSH1, CSA, PL|C|Chorionic somatomammotropin hormone-1||150200|REa, A|||[Placental lactogen deficiency] (1)| | |13(Pl1)|
17.616|7|18|91|17q23.3|CSH2, CSB|C|Chorionic somatomammotropin B||118820|REa, A|||| | |13(Pl2)|
17.617|6|25|99|17q23.3|CSHL1, CSL|P|Chorionic somatomammotropin hormone-like 1||603515|A|||| | ||
17.618|7|14|09|17q23.3|GH1, GHN, IGHD1B|C|Growth hormone-1||139250|REa, A, Fd|5'-GH1-CSHP1-CSH1-GH2-CSH2-3'||Growth hormone deficiency, isolated, type IA, 262400 (3); Growth|hormone deficiency, isolated, type IB, 612781 (3); Growth hormone deficiency, isolated, type II, 173100 (3); Kowarski syndrome, 262650 (3)| |11(Gh)|
17.619|9|16|88|17q23.3|GH2, GHV|C|Growth hormone-2||139240|REa, A|||| | ||
17.620|9|10|09|17q23.3|TACO1, CCDC44|P|Translational activator of mitochondrially encoded cytochrome c|oxidase subunit I|612958|REc|||| | ||
17.621|2|17|04|17q25.1|FOXJ1, FKHL13, HFH4|P|Forkhead box J1||602291|REc|||| | ||
17.622|11|5|98|17q25.1|CDK3|P|Cyclin-dependent kinase 3||123828|Psh|distal to BRCA1||| | ||
17.623|3|29|12|17q23.3|ACE, DCP1, ACE1, MVCD3, ICH|C|Angiotensin I converting enzyme (dipeptidyl carboxypeptidase-1)||106180|A, H, Fd|||{Myocardial infarction, susceptibility to} (3); {Alzheimer disease,|susceptibility to}, 104300 (3); {Microvascular complications of diabetes 3}, 612624 (3); [Angiotensin I-converting enzyme, benign serum increase] (3);|{SARS, progression of} (3); Renal tubular dysgenesis, 267430 (3); {Stroke, hemorrhagic}, 614519 (3)||Cambien (1992); Rigat (1992)
17.624|5|19|06|17q23|BSZQTL|P|Bone size quantitative trait locus 1||609656|Fd|||{Bone size QTL} (2)| | ||
17.625|7|20|04|17q23.1|CA4, RP17|C|Carbonic anhydrase IV||114760|REa, A, Fd|||Retinitis pigmentosa 17, 600852 (3)| | ||
17.626|8|3|10|17q23.3|CD79B, IGB, B29, AGM6|P|CD79B antigen||147245|A|||Agammaglobulinemia 6, 612692 (3)| | ||
17.627|1|27|04|17q23.1|CLTC|C|Clathrin, heavy polypeptide (Hc)||118955|REc, Ch|fusion gene with TFE3 in renal adenocarcinoma||| | ||
17.628|6|9|08|17q22|MKS1, MKS, BBS13|C|MKS1 gene||609883|Fd, REc|frequent in Finland||Meckel syndrome 1, 249000 (3); Bardet-Biedl syndrome 13,|209900 (3) | ||
17.629|9|15|96|17q23.3|PECAM1|P|Platelet/endothelial cell adhesion molecule (CD31 antigen)||173445|Psh, A|||| | |6(Pecam1)|
17.630|7|1|05|17q22|SEPT4, PNUTL2|C|Septin 4||603696|A, REc|||| | |11(Sept4)|
17.631|2|19|97|17q23.2|TBX2|C|T-box 2||600747|A, H|||| | |11(Tbx2)|
17.632|3|4|02|17q24.2|KPNA2, RCH1, QIP2|P|Karyopherin alpha-2||600685|REc|||| | ||
17.633|7|17|06|17q23.3|POLG2, POLGB, PEOA4|P|Polymerase, DNA, gamma-2||604983|REc|||Progressive external ophthalmoplegia with mitochondrial DNA|deletions, autosomal dominant 4, 610131 (3) | ||
17.634|5|4|12|17q24.2|PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1|C|Protein kinase, cAMP-dependent, regulatory, type I, alpha||188830|S, M, REa, RE, Fd|fused with RET to form PTC2||Carney complex, type 1, 160980 (3); Myxoma, intracardiac, 255960 (3);|Thyroid carcinoma, papillary, somatic, 188550 (3); Pigmented nodular adrenocortical disease, primary, 1, 610489 (3); Adrenocortical tumor, somatic,|(3); Acrodysostosis 1, with or without hormone resistance, 101800 (3) |11(Tse1)|
17.635|1|27|04|17q24.1|RGS9, PERRS|C|Regulator of G protein signaling 9||604067|R, A|||Bradyopsia, 608415 (3)| | ||
17.636|6|25|99|17q23.3|SMARCD2, BAF60B|P|SWI/SNF-related, matrix-associated, actin-dependent regulator of|chromatin, subfamily d, member 2|601736|Psh, R|||| | ||
17.637|3|4|96|17q23.3|DDX5, HLR1, G17P1|C|DEAD/H box-5 (RNA helicase, 68kD)||180630|REa, REn|near BRCA1||| | ||
17.638|10|4|91|17q23.3|ICAM2|P|Intercellular adhesion molecule-2||146630|REa, C|||| | ||
17.639|3|5|08|17q25.1|MRPL38|P|Mitodhondrial ribosomal protein L38||611844|R, REc|||| | ||
17.640|4|23|08|17q25.1|MRPS7|P|Mitochondrial ribosomal protein S7||611974|R, REc|||| | ||
17.641|5|1|02|17q25.1|NT5C, UMPH2, DNT1|C|5', 3' nucleotidase, cytosolic||191720|REa|||| | |11(Umph2)|
17.642|1|24|11|17q24.2|APOH|C|Apolipoprotein H (beta-2-glycoprotein I)||138700|Fd, REa|||| | |11(Apoh)|
17.643|10|23|87|17q23-qter|PEPE|C|Peptidase E||170200|S|||| | ||
17.644|3|9|01|17q22|EPX|P|Eosinophil peroxidase||131399|REa, A|||Eosinophil peroxidase deficiency, 261500 (3)| | ||
17.645|3|9|01|17q22|LPO|P|Lactoperoxidase||150205|REn|||| | ||
17.646|5|5|09|17q23.1|MIR21, MIRN21|P|Micro RNA 21||611020|REc|||| | ||
17.647|8|30|07|17q22|MPO|C|Myeloperoxidase||606989|REa, A, F, Ch, C, REc|translocated in t(15;17)(q22;q11.2)||Myeloperoxidase deficiency, 254600 (3); {Alzheimer disease,|susceptibility to}, 104300 (3); {Lung cancer, protection against, in smokers} (3)| |11(Mpo)|
17.648|2|14|08|17q23.1|PTRH2, BIT1|P|Peptidyl-tRNA hydrolase 2||608625|R, REc|||| | ||
17.649|4|17|13|17q23.1|RNFT1|P|RING finger protein, transmembrane 1||615172|REc|||| | |11(Rnft1)|
17.650|10|15|09|17q23.1|RPS6KB1, S6K1|P|Ribosomal protein S6 kinase, 70kD||608938|R, REc|||| | ||
17.651|3|23|95|17q22|TRIM25, ZNF147, EFP|C|Tripartite motif-containing 25||600453|A, REc|300kb from MPO||| | |11(Efp)|
17.652|2|5|13|17q23.1|VMP1, TMEM49, EPG3|P|Vacuole membrane protein 1||611753|R, REc|||| | ||
17.653|4|20|10|17q23.1-q23.2|DEL17q23.1q23.2, C17DELq23.1q23.2|P|Chromosome 17q23.1-q23.2 deletion syndrome||613355|Ch|||Chromosome 17q23.1-q23.2 deletion syndrome (4)| | ||
17.654|11|1|10|17q23.1-q23.2|DUP17q23.1q23.2, C17DUPq23.1q23.2|P|Chromosome 17q23.1-q23.2 duplication syndrome||613618|Ch|2.2 Mb contiguous gene duplication syndrome||Chromosome 17q23.1-q23.2 duplication syndrome (4)| | ||
17.655|9|12|12|17q24.3|KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9|C|Potassium channel, inwardly rectifying, subfamily J, member 2||600681|R, REc|||Andersen syndrome, 170390 (3); Short QT syndrome-3, 609622 (3);|Atrial fibrillation, familial, 9, 613980 (3) | |11(Irk1)|
17.656|5|4|12|17q23.3|SCN4A, HYPP, NAC1A, HOKPP2|C|Sodium channel, voltage-gated, type IV, alpha polypeptide||603967|REa, Fd|21.5kb from GH1||Hyperkalemic periodic paralysis, type 2, 170500 (3); Paramyotonia|congenita, 168300 (3); Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3); Myasthenic syndrome, acetazolamide-responsive, 614198 (3);|Hypokalemic periodic paralysis, type 2, 613345 (3) ||McClatchey (1992a,b); Ptacek (1992)
17.657|4|1|09|17q22|BZRAP1, PRAX1, RIMBP1, KIAA0612|C|Benzodiazapine receptor (peripheral)-associated protein 1||610764|R, A, REc, H|||| | |11(Bzrap1)|
17.658|2|21|06|17q22|DYNLL2, DLC2|P|Dynein, light chain, LC8-type 2||608942|REc|||| | ||
17.659|6|7|10|17q23.2|MARCH10|P|Membrane-associated RING-CH finger protein 10||613337|REc|||| | ||
17.660|9|24|08|17q23.2|MRC2, ENDO180, UPARAP, CD280|P|Mannose receptor, C-type, 2||612264|R, REc|||| | ||
17.661|12|17|08|17q22|RNF43, RNF124|P|Ring finger protein 43||612482|REc|||| | ||
17.662|8|8|13|17q23.2|TLK2|P|Tousled-like kinase 2||608439|A, REc|||| | ||
17.663|12|29|08|17q22|YPEL2|P|Yippee-like 2||609723|REc|||| | |11(Ypel2)|
17.664|8|24|09|17q23.2-q25.1|BMIQ15|P|Body mass index quantitative trait locus 15||612967|Fd|associated with rs228883 and rs1005651||[Body mass index QTL 15] (2)| | ||
17.665|4|20|10|17q23.3|DDX42, RHELP|P|DEAD (Asp-Glu-Ala-Asp) box polypeptide 42||613369|REc|||| | ||
17.666|4|30|09|17q23.1|DHX40, DDX40|P|DEAH (Asp-Glu-Ala-His) box polypeptide 40||607570|REc|||| | ||
17.667|12|10|13|17q23.3|ERN1, IRE1, IRE1A|P|Endoplasmic reticulum-to-nucleus signaling 1||604033|REc|||| | ||
17.668|3|14|13|17q23.3|KCNH6, HERG2|P|Potassium channel, voltage-gated, subfamily H, member 6||608168|REc|||| | ||
17.669|5|19|09|17q23.3|STRADA, STRAD, LYK5|C|STE20-related kinase adaptor alpha||608626|REc|||Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3)| | ||
17.670|1|31|13|17q23.2-q23.3|TANC2, KIAA1636|P|Tetratricopeptide repeat-, ankyrin repeat-, and coiled-coil-containing|protein 2|615047|REc|||| | ||
17.671|5|12|09|17q23.3|TCAM1|P|Testicular cell adhesion molecule 1||612756|REc|||| | |11(Tcam1)|
17.672|2|19|13|17q24.1|AXIN2, ODCRCS|C|Axis inhibitor 2 (conductin, mouse, homolog of)||604025|R, A|||Oligodontia-colorectal cancer syndrome, 608615 (3);|Colorectal cancer, somatic, 114500 (3) | ||
17.673|4|29|97|17q24.2|CACNG1, CACNLG|C|Calcium channel, voltage-dependent, gamma-1 subunit||114209|A|||| | ||
17.674|11|28|01|17q24.2|CACNG5|P|Calcium channel, voltage-dependent, gamma-5 subunit||606405|REc|||| | ||
17.675|5|13|13|17q24|CTRCT7, CCA1|P|Cataract 7||115660|Fd|||Cataract 7 (2)| | ||
17.676|5|6|03|17q25.1|CMRF35H, CMRF35H9|P|CMRF35H antigen||606790|Psh, A|||| | ||
17.677|5|20|97|17q24.2|FALZ, FAC1|P|Fetal Alzheimer antigen||601819|A|||| | ||
17.678|11|29|99|17q25.1|GALK1|C|Galactokinase-1||604313|S, Ch, R, C, A|||Galactokinase deficiency with cataracts, 230200 (3)| | |11(Glk)|
17.679|2|3|03|17q25.1|SSTR2|C|Somatostatin receptor-2||182452|REa|||| | |11(Sstr2)|
17.680|12|12|00|17q25.1|CDC42EP4, BORG4|P|CDC42 effector protein 4|(binder of Rho GTPases 4)|605468|A|||| | |11(Borg4)|
17.681|10|27|92|17q25.1|FDXR, ADXR|C|Ferredoxin reductase (adrenodoxin reductase)||103270|REa, A|||| | ||
17.682|10|20|99|17q25.1|GRB2|C|Growth factor receptor-bound protein 2||108355|A, REa|||| | |11(Grb2)|
17.683|10|22|96|17q25.1|PRPSAP1|P|Phosphoribosyl pyrophosphate synthetase-associated protein-1||601249|Psh, A|||| | ||
17.684|2|24|97|17q23.3|PSMC5, TRIP1|P|Proteasome (prosome, macropain) 26S subunit, ATPase, 5||601681|Psh, A|||| | ||
17.685|4|23|03|17q25.1|SANS, USH1G|C|Scaffold protein containing ankyrin repeats and SAM domain||607696|Fd|?allelic to DFNA20||Usher syndrome, type 1G, 606943 (3)| | ||
17.686|5|22|07|17q25.1|TRIM47, GOA|P|Tripartite motif-containing protein 47||611041|A|||| | ||
17.687|12|23|08|17q24.3|ABCA5, KIAA1888|C|ATP-binding cassette, subfamily A, member 5||612503|Psh, R, REc|||| | ||
17.688|12|22|08|17q24.2-q24.3|ABCA6|P|ATP-binding cassette, subfamily A, member 6||612504|REc|||| | ||
17.689|12|22|08|17q24.2|ABCA8, KIAA0822|C|ATP-binding cassette, subfamily A, member 8||612505|R, REc|||| | ||
17.690|12|24|08|17q24.2|ABCA9|P|ATP-binding cassette, subfamily A, member 9||612507|REc|||| | ||
17.691|12|24|08|17q24.3|ABCA10|P|ATP-binding cassette, subfamily A, member 10||612508|REc|||| | ||
17.692|4|17|13|17q24.2|AMZ2|P|Archaelysin family metallopeptidase 2||615169|REc|||| | ||
17.693|5|19|06|17q24.2|ARSG, KIAA1001|C|Arylsulfatase G||610008|REc|||| | ||
17.694|9|29|11|17q24.2|FAM20A, AIGFS|P|Family with sequence similarity 20, member A||611062|R, REc|||Amelogenesis imperfecta and gingival fibromatosis syndrome,|614253 (3) | ||
17.695|8|19|13|17q24.2|NOL11|P|Nucleolar protein 11||615366|REc|||| | ||
17.696|8|24|09|17q24.2-q24.3|HTGH, DEL17q24|P|Hypertrichosis terminalis, generalized, with or without gingival|hyperplasia (chromosome 17q24 microdeletion syndrome)|135400|Ch|||Hypertrichosis terminalis, generalized, with or without gingival|hyperplasia (4) | ||
17.697|3|11|08|17q24.1|GNA13|P|Guanine nucleotide-binding protein, alpha-13||604406|R, REc|||| | ||
17.698|11|19|10|17q24.3|MAP2K6, PRKMK6, MKK6, MEK6, MAPKK6|P|Mitogen-activated protein kinase kinase 6||601254|REc|||| | ||
17.699|4|26|11|17q24.3-q25.1|SRXX2, DUP17q24.3, DEL17q24.3|P|46XX sex reversal 2||278850|Ch|duplication or deletion involving genomic region in/around SOX9||46XX sex reversal 2 (4)| | ||
17.700|5|19|09|17q24.3-q25.1|PRBNS|P|Pierre Robin syndrome||261800|Fd|between D17S795 and D17S929||Pierre Robin syndrome (2)| | ||
17.701|5|24|13|17q25.3|C1QTNF1, GIP|P|C1q- and tumor necrosis factor-related protein 1||610365|REc|||| | ||
17.702|2|24|11|17q24.3|SOX9, CMD1, SRA1|C|SRY (sex-determining region Y)-box 9||608160|Ch, REn|||Campomelic dysplasia with autosomal sex reversal, 114290 (3);|Acampomelic campomelic dysplasia, 114290 (3); Campomelic dysplasia, 114290 (3) | |11(Ts, Sox9)|Young (1992)
17.703|8|13|11|17q25.1|AANAT, SNAT, DSPS|P|Arylalkylamine N-acetyltransferase||600950|Psh, A|||{Delayed sleep phase syndrome, susceptibility to}, 614163 (3)| | |11(Nat4)|
17.704|4|6|00|17q25.3|API4|P|Apoptosis inhibitor 4||603352|A|||| | ||
17.705|6|7|06|17q25.3|ASPSCR1, RCC17, ASPL, ASPS|P|Alveolar soft-part sarcoma chromosome region, candidate 1||606236|Ch|t(X;17)(p11.2;q25)||Alveolar soft-part sarcoma, 606243 (3)| | ||
17.706|2|26|02|17q25.3|BAIAP2, IRSP53|P|BAI1-associated protein 2||605475|A|||| | ||
17.707|8|29|11|17q25.3|CBX2, M33, SRXY5|P|Chromobx homolog 2, Drosophila polycomb class||602770|A|||46XY sex reversal 5, 613080 (3)| | ||
17.708|2|11|98|17q25|CDR3|L|Cerebellar degeneration-related autoantigen-3||602197|H|||| | |11(Cdr3)|
17.709|5|13|13|17q25.3|CSNK1D, ASPS, FASPS2|C|Casein kinase-1, delta||600864|A, Psh|||Advanced sleep-phase syndrome, familial, 2, 615224 (3)| | ||
17.710|10|1|10|17q25.1|CYGB, HGB, STAP|P|Cytoglobin||608759|REc|||| | ||
17.711|9|30|09|17q25.3|CYTH1, D17S811E, SEC7|P|Cytohesin 1||182115|Psh, A|||| | ||
17.712|8|19|13|17q25.3|DNAH17, DNEL2|P|Dynein, axonemal, heavy chain 17||610063|A, R|||| | ||
17.713|12|3|08|17q25.1|DNAI2, CILD9|C|Dynein, axonemal, intermediate chain 2||605483|Psh, A|||Ciliary dyskinesia, primary, 9, with or without situs inversus,|612444 (3) | ||
17.714|1|5|11|17q25|EPR1|P|Effector cell protease receptor 1||603411|A|||| | ||
17.715|4|14|10|17q25.3|TMC8, EVER2, EV2|C|Transmembrane channel-like 8||605829|Fd, REc|previously mapped to 2p24-p21||Epidermodysplasia verruciformis, 226400 (3)| | ||
17.716|1|21|97|17q25.1|EVPL|P|Envoplakin||601590|REa, A|||| | ||
17.717|1|12|95|17q25.3|FASN|P|Fatty acid synthase||600212|A|||| | ||
17.718|12|18|07|17q25.3|FN3KRP|P|Fructosamine 3-kinase-related protein||611683|REc|||| | ||
17.719|1|18|12|17q25.3|FOXK2, ILF1|P|Forkhead box K2 (interleukin enhancer-binding factor 1)||147685|REa, A|||| | ||
17.720|6|25|03|17q25.3|FSCN2, RFSN, RP30|P|Fascin, sea urchin, homolog of, 2||607643|A, REc|within 200kb of ACTG1||Retinitis pigmentosa 30, 607921 (3)| | ||
17.721|3|17|98|17q25.3|GCGR|P|Glucagon receptor||138033|A, Fd|||{Diabetes mellitus, noninsulin-dependent}, 125853 (3)| | ||
17.722|6|20|94|17q25.1|GRIN2C, NMDAR2C|P|Glutamate receptor, ionotropic, N-methyl D-aspartate 2C||138254|A|||| | ||
17.723|2|16|96|17q25.1|H3F3B|P|H3 histone, family 3B (H3.3B)||601058|A|||| | ||
17.724|2|7|01|17q25.3|HGS, HRS|C|Human growth factor-regulated tyrosine kinase substrate||604375|REa, A|||| | ||
17.725|11|12|07|17q25.1|JMJD6, PSR|P|Jumonji domain containing 6 (phosphatidylserine receptor)||604914|REc|||| | ||
17.726|5|29|01|17q24.3|KCNJ16, KIR5.1|P|Potassium channel, inwardly rectifying, subfamily J, member 16||605722|R|||| | ||
17.727|7|12|95|17q25.3|LGALS3BP|P|Lectin, galactoside-binding, soluble, 3 binding protein (galectin 6|binding protein)|600626|A|||| | |11(Lgals3bp)|
17.728|8|20|99|17q25.3|MAFG|C|v-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein G||602020|A|||| | ||
17.729|8|21|91|17q25.3|P4HB, PROHB|C|Procollagen-proline, 2-oxoglutarate-4-dioxygenase, beta polypeptide;|thyroid hormone-binding protein p55|176790|S, REa, A, C|||| | ||
17.730|10|7|10|17q25.3|PDE6G, PDEG, RP57|C|Phosphodiesterase-6G, cGMP-specific, rod, gamma||180073|REa, A, Fd|||Retinitis pigmentosa 57, 613582 (3)| | |11(Pdeg)|
17.731|11|11|10|17q25.1|NUP85, PCNT1, PCNT|P|Nucleoporin 85kD||170285|REc|||| | ||
17.732|8|3|99|17q25.1|RECQL5, RECQ5|P|DNA helicase, RecQ-like, type 5||603781|A|||| | ||
17.733|10|20|99|17q25.3|RFNG|P|Radical fringe||602578|REa|||| | |11(Rfng)|
17.734|2|25|11|17q25.3|RNF213, ALO17, KIAA1618, MYMY2|P|Ring finger protein 213||613768|Psh, REc, Fd|||{Moyamoya disease 2, susceptibility to}, 607151 (3)| | ||
17.735|7|20|06|17q25.2-q25.3|SEPT9, MSF, MSF1, NAPB|C|Septin 9||604061|Ch, REa, Fd|||Leukemia, acute myeloid, therapy-related (1); Ovarian carcinoma (1);|Amyotrophy, hereditary neuralgic, 162100 (3) | ||
17.736|12|7|11|17q25.1|SRSF2, SFRS2, SC35|P|Serine/arginine-rich splicing factor 2||600813|H, REc|||| | |11(Sfrs2)|
17.737|9|22|04|17q25.3|TBCD|C|Tubulin-specific chaperone D||604649|REc|||| | ||
17.738|9|22|93|17q25.3|TIMP2|P|Tissue inhibitor of metalloproteinase-2||188825|H, REa, A|||| | |11(Timp2)|
17.739|4|14|10|17q25.3|TMC6, EVER1, EV1|C|Transmembrand channel-like 6||605828|Fd, REc|||Epidermodysplasia verruciformis, 226400 (3)| | ||
17.740|12|4|02|17q25.3|SYNGR2|C|Synaptogyrin 2||603926|A, REc|pseudogene on 15q11; near EV1, EV2, TK1||| | ||
17.741|5|28|02|17q25.1|WBP2|P|WW domain-binding protein 2||606962|A|||| | ||
17.742|6|25|99|17q25.3|MRPL12, RPML12|P|Ribosomal protein, mitochondrial, L12||602375|A|||| | ||
17.743|4|20|11|17q25.1|ACOX1, ACOX, SCOX|C|Acyl-Coenzyme A oxidase 1, palmitoyl||609751|A, Psh|||Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)| | ||
17.744|4|6|01|17q25.1|C17orf28, DMC1|P|Downregulated in multiple cancers-1||605752|REc|||| | ||
17.745|12|2|09|17q25.1|C17orf106, TEN1|P|Chromosome 17 open reading frame 106||613130|REc|||| | ||
17.746|1|22|07|17q25.1|CD300LB, TREM5, IREM3|P|CD300 antigen-like family, member B||610705|REc|||| | |11(Cd300lb)|
17.747|8|29|08|17q25.1|CASKIN2, KIAA1139|P|CASK-interacting protein 2||612185|R, REc|||| | ||
17.748|12|23|05|17q25.1|CD300LE, IREM2, CLM2|P|CD300 antigen-like family, member E||609801|REc|||| | ||
17.749|12|23|05|17q25.1|CD300LF, IGSF13, IREM1, CLM1|C|CD300 antigen-like family, member F||609807|REc|||| | ||
17.750|1|14|11|17q25.1|COG1, LDLB, KIAA1381, CDG2G|C|Component of oligomeric golgi complex 1||606973|R, REc|||Congenital disorder of glycosylation, type IIg, 611209 (3)| | ||
17.751|9|14|05|17q25.1|EXOC1, EX070, KIAA1067|P|Exocyst complex component 7||608163|R, REc|||| | ||
17.752|6|13|12|17q25.1|GPR142, PGR2|P|G protein-coupled receptor 142||609046|REc|||| | |11(Gpr142)|
17.753|3|10|11|17q25.1|ICT1, DS1|P|Immature colon carcinoma transcript 1||603000|REc|||| | ||
17.754|7|26|10|17q25.1|KCTD2, KIAA0176|P|Potassium channel tetramerization domain-containing 2||613422|R, REc|||| | ||
17.755|6|4|13|17q25.1|METTL23, C17orf95|P|Methyltransferase-like 23||615262|REc|||| | ||
17.756|8|25|11|17q25.1-q25.3|NDNC9|P|Nail disorder, nonsyndromic congenital, 9||614149|Fd|max lod at D17S1301||Nail disorder, nonsyndromic congenital, 9 (2)| | ||
17.757|6|24|08|17q25.1|MIF4GD, SLIP1|P|MIF4G domain-containing protein||612072|REc|||| | ||
17.758|3|14|06|17q25.1|RAB37|P|Pas-associated protein RAB37||609956|R, REc|||| | ||
17.759|4|19|12|17q25.1|RHBDF2, IRHOM2, TOC|P|Rhomboid 5, Drosophila, homolog of, 2||614404|REc|||Tylosis with esophageal cancer, 148500 (3)| | ||
17.760|10|22|10|17q25.1|SAP30BP, HTRP, HCNGP, HTRG|P|SAP30-binding protein||610218|R, REc|||| | ||
17.761|9|23|08|17q25.1|SLC9A3R1, EBP50, NHERF1, NPHLOP2|C|Solute carrier family 9 (sodium/hydrogen exchanger), member 3|regulatory factor 1|604990|R, REc|||Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)| | ||
17.762|4|6|01|17q25.1|SRP68|C|Signal recognition particle, 68kD||604858|R, A|||| | ||
17.763|8|19|13|17q25.1|ST6GALNAC1, SIAT7A, STYI|P|ST6 alpha-N-aetyl-neuraminyl-2,3-beta-galactosyl-1,|3-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1|610138|REc|||| | ||
17.764|1|23|09|17q25.1|TSEN54, SEN54, PCH2A, PCH4|P|tRNA splicing endonuclease 54, S. cerevisiae, homolog of||608755|REc|||Pontocerebellar hypoplasia type 2A, 277470 (3); Pontocerebellar|hypoplasia type 4, 225753 (3) | ||
17.765|9|16|12|17q25.1|TTYH2|P|Tweety, Drosophila, homolog of, 2||608855|REc|||| | ||
17.766|9|3|04|17q25.1|UNC13D, MUNC13-4, HPLH3, HLH3, FHL3|C|UNC13, C. elegans, homolog of, D||608897|Fd, REc|||Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)| | ||
17.767|5|20|99|17q25.3|NPTX1, NP1|P|Pentraxin I, neuronal||602367|A|||| | |11(Nptx1)|
17.768|1|6|97|17q25.2|SEC14L|P|SEC14, S. cerevisiae, like||601504|A|||| | ||
17.769|5|7|01|17q25.1|GPRC5C, RAIG3|P|G protein-coupled receptor, family C, group 5, member C||605949|REc|||| | ||
17.770|7|12|02|17q25.1|SPHK1|P|Sphingosine kinase||603730|REc|||| | ||
17.771|1|2|91|17q25.3|CD7|C|CD7 antigen (p41)||186820|S, A|||| | |11(Cd7)|
17.772|4|11|02|17q25.3|GAA|C|Glucosidase, acid alpha-||606800|S, A, D, C|distal to TK1||Glycogen storage disease II, 232300 (3)| | ||
17.773|6|25|99|17q25.3|SECTM1, K12|P|Secreted and transmembrane 1||602602|REn|||| | ||
17.774|3|8|96|17q25.3|TK1|C|Thymidine kinase-1||188300|S, Ch, R, C, Fd, A|||| | |11(Tk1)|
17.775|10|31|00|17q25.3|AATK, AATYK|C|Apoptosis-associated tyrosine kinase||605276|REa, A|||| | ||
17.776|4|19|12|17q25.3|ACTG1, DFNA20, DFNA26, BRWS2|C|Actin, gamma-1||102560|REa, A, Fd|||Deafness, autosomal dominant 20/26, 604717 (3); Baraitser-Winter|syndrome 2, 614583 (3) | ||
17.777|3|30|12|17q25.3|ANAPC11, APC11|P|Anaphase-promoting complex subunit 11||614534|REc|||| | ||
17.778|5|23|13|17q25.3|ARHGDIA, GDIA1, NPHS8|P|Rho GDP dissociation inhibitor (GDI) alpha||601925|A, REa|1 family identified with mutation||?Nephrotic syndrome, type 8, 615244 (3)| | ||
17.779|10|12|09|17q25.3|ATOD4|P|Dermatitis, atopic, 4||605805|Fd|maximum lod at D17S1290||{Dermatitis, atopic, susceptibility to, 4} (2)| | ||
17.780|2|1|11|17q25.3|AZI1, ZA1, KIAA1118|P|5-azacytidine-induced gene 1, mouse, homolog of||613479|R, REc|||| | ||
17.781|8|2|13|17q25.3|B3GNTL1|P|Beat-1,3-N-acetylglucosaminyltransferase-like 1||615337|REc|||| | ||
17.782|12|21|09|17q25.3|CANT1, SCAN1, DBQD|P|Calcium-activated nucleotidase 1||613165|REc|||Desbuquois dysplasia, 251450 (3)| | ||
17.783|8|1|12|17q25.3|CARD14, CARMA2, BIMP2, PSORS2, PSS1, PRP|C|Caspase recruitment domain-containing protein 14||607211|Fd, REc|||{Psoriasis susceptibility 2}, 602723 (3); Pityriasis rubra pilaris,|173200 (3) | ||
17.784|3|15|11|17q25.3|CCDC40, KIAA1640|P|Coiled-coil domain-containing protein 40||613799|REc|||Ciliary dyskinesia, primary, 15, 613808 (3)| | ||
17.785|10|5|11|17q25.3|CCDC137|P|Coiled-coil domain-containing protein 137||614271|REc|||| | ||
17.786|4|17|07|17q25.3|CHMP6|P|CHMP family, member 6||610901|R, REc|||| | ||
17.787|4|28|10|17q25.3|DCXR, P34H|P|Dicarbonyl/L-xylulose reductase||608347|R, REc|||Pentosuria, 260800 (1)| | ||
17.788|8|8|13|17q25.3|FN3K|P|Fructosamine 3-kinase||608425|REc, A|||| | ||
17.789|6|25|99|17q25.1|GALR2, GALNR2|P|Galanin receptor 2||603691|A|||| | ||
17.790|10|7|02|17q25.3|GPR14, UTR2, UTR|P|G protein-coupled receptor-14 (urotensin II receptor)||600896|A|||| | ||
17.791|2|12|07|17q25.3|GPS1|P|G protein pathway suppressor 1||601934|R, REc|||| | ||
17.792|9|22|08|17q25.3|IS5|P|Scoliosis, idiopathic, susceptibility to, 5||612239|Fd|between D17S1806 and 17qter||| | ||
17.793|4|19|07|17q25.1|LGICZ1, ZAC, L2|C|Ligand-gated ion channel, zinc-activated, 1||610935|REc, REn|||| | ||
17.794|12|4|08|17q25.2|MGAT5B|P|Alpha-1,6-mannosyl-glycoprotein|beta-1,6-N-acetylglucosaminyltransferase isozyme B|612441|REc|||| | ||
17.795|7|1|11|17q25.3|MIR338, MIRN338|P|Micro RNA 338||614059|REc|||| | ||
17.796|3|18|08|17q25.3|NAGLUEB, FLJ21865|P|N-acetylglucosaminidase, endo-beta||611898|R, REc|||| | ||
17.797|1|24|06|17q25.3|NOTUM|P|Notum, Drosophila, homolog of||609847|REc|||| | ||
17.798|12|17|12|17q25.3|PGS1|P|Phosphatidylglycerophosphate synthase 1||614942|REc|||| | ||
17.799|1|31|12|17q25.3|PYCR1, PRO3, ARCL2B, ARCL3B|P|Pyroline-5-carboxylate reductase-1||179035|REa|||Cutis laxa, autosomal recessive, type IIB, 612940 (3); Cutis|laxa, autosomal recessive, type IIIB, 614438 (3) | ||
17.800|2|1|01|17q25.3|RAC3|C|Ras-related C3 botulinum toxin substrate-3 (rho family, small|GTP-binding protein Rac3)|602050|Psh, A|||| | ||
17.801|12|2|09|17q25.3|RPTOR, RAPTOR, KIAA1303|P|Regulatory-associated protein of MTOR||607130|REc|||| | ||
17.802|2|2|11|17q25.3|SGSH, MPS3A, SFMD|C|N-sulfoglucosamine sulfohydrolase (sulfamidase)||605270|A|||Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)| | |11(Sgsh)|
17.803|8|17|10|17q25.3|SIRT7, SIR2L7|C|Sirtuin 7 (Sir2, S. cerevisiae, homolog of, 7)||606212|REc|||| | ||
17.804|3|26|02|17q25.3|SLC25A10, DIC|P|Solute carrier family 25 (mitochondrial carrier), member 10|(dicarboxylate ion carrier)|606794|A|||| | ||
17.805|2|13|12|17q25.1|SLC25A19, DNC, MUP1, MCPHA, THMD3, THMD4|C|Solute carrier family 25 (mitochondrial deoxynucleotide carrier),|member 19|606521|A, Fd, REc|||Microcephaly, Amish type, 607196 (3); Thiamine metabolism dysfunction|syndrome 4 (progressive polyneuropathy type), 613710 (3) | ||
17.806|10|8|09|17q25.3|SOCS3, SSI3, CIS3|C|Suppressor of cytokine signaling 3||604176|REc|||| | ||
17.807|4|6|13|17q25.3|STRA13, CENPX, FAAP10, MHF2, D9|P|Stimulated by retinoic acid 13||615128|REc|||| | ||
17.808|12|23|02|17q25.3|THOC4, ALY, BEF|P|THO complex 4 (transcriptional coactivator ALY)||604171|REc|||| | ||
17.809|1|31|07|17q25.3|TNRC6C, KIAA1582|P|Trinucleotide repeat-containing gene 6C||610741|R, REc|||| | ||
17.810|1|27|09|17q25.3|USP36, KIAA1453|P|Ubiquitin-specific protease 36||612543|REa, REc|||| | ||
17.811|7|9|06|17q25.3|ZNF750, FLJ13841|C|Zinc finger protein 750||610226|REc, Fd|||Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)| | ||
17.812|1|7|02|17q25.3|NPL4, KIAA1499|P|Npl4, S. cerevisiae, homolog of||606590|Psh, A|||| | ||
17.813|5|26|98|17q22|AKAP1, AKAP149, SAKAP84|P|A-kinase anchor protein 1, 149kD||602449|TM|||| | ||
17.814|4|30|03|17q12|AP1GBP1, SYNG|P|Adaptor-related protein complex 1 gamma subunit-binding protein 1||607291|R|||| | ||
17.815|11|5|98|17q21.32|ATP5G1|P|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C,|isoform 1|603192|REc|||| | ||
17.816|3|2|00|17q21-q22|CA10, CARPX|P|Carbonic anhydrase X||604642|REc|||| | ||
17.817|8|29|02|17q12|CCL1, SCYA1|P|Chemokine, C-C motif, ligand 1||182281|REa|||| | ||
17.818|5|22|03|17p13.1|CENTB1, KIAA0050, ACAP1|P|Centaurin, beta-1||607763|Psh|||| | ||
17.819|11|1|02|17q21.31|CLP1, HIS1|P|Cardiac lineage protein 1||607328|R|||| | ||
17.820|12|11|02|17q12|DUSP14, MKP6|P|Dual-specificity phosphatase 14||606618|R|||| | ||
17.821|10|7|02|17p11.2|EPN2, KIAA1065|P|Epsin 2||607263|R|||| | ||
17.822|10|7|02|17q21.33|EPN3|P|Epsin 3||607264|REc|||| | ||
17.823|4|10|90|Chr.17|G6PDL|P|Glucose-6-phosphate dehydrogenase-like||138110|REa, REb|||| | ||
17.824|12|19|01|17q25.1|GGA3, KIAA0154|P|Golgi associated, gamma adaptin ear containing, ARF binding protein 3||606006|R|||| | ||
17.825|1|31|01|17q21.31|HDAC5|P|Histone deacetylase 5||605315|R|||| | ||
17.826|2|20|02|17q24.2|HELZ, KIAA0054, HUMORF5|P|Helicase with zinc finger domain||606699|R|||| | ||
17.827|6|25|99|17q22|MTMR4|P|Myotubularin-related protein 4||603559|R, REc|||| | ||
17.828|4|10|90|17q21.32|MYL4|C|Myosin, light polypeptide-4, alkali; atrial, embryonic||160770|REa|||| | |11(Myla)|
17.829|12|27|01|17p13.1|NLGN2, KIAA1366|P|Neuroligin 2||606479|R|||| | ||
17.830|2|3|03|17p13.1|NUDEL|P|Nude-like protein (endooligopeptidase A)||607538|R|||| | ||
17.831|5|31|06|Chr.17|ODS1|P|Opioid dependence, susceptibility to, 1||610064|Fd|||{Opioid dependence, susceptibility to, 1} (2)| | ||
17.832|6|2|98|17p13.1|PFAS, FGARAT|P|phosphoribosylformylglycinamidine synthase (FGAR amidotransferase)||602133|REa, A|||| | ||
17.833|6|13|03|17p13.3|SKIP|P|Skeletal muscle- and kidney-enriched inositol phosphatase||607875|R|||| | ||
17.834|3|23|02|17p11.2|TRPV2, VRL1|P|Transient receptor potential cation channel, subfamily V, member 2||606676|R|||| | ||
17.835|11|21|02|17q23.1|TUBD1, TUBD|P|Tubulin, delta-1||607344|REc|||| | ||
18.1|8|26|09|18p11.32|CETN1, CEN1|P|Centrin-1||603187|REa, REc|||| | ||
18.2|6|14|94|18pter-p11.21|ERV1|C|Oncogene ERV1; endogenous retrovirus-1||131150|REa, A|||| | ||
18.3|3|10|03|18p11.32|COLEC12, SRCL, CLP1|P|Collectin 12||607621|REc|||| | ||
18.4|12|15|10|18p11.32|ENOSF1, RTS|P|Enolase superfamily member 1||607427|REn|||| | ||
18.5|1|9|13|18p11.32|SMCHD1, KIAA0650|P|Structural maintenance of chromosomes flexible hinge domain-containing|protein 1|614982|REc|||Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)| | |17(Smchd1)|
18.6|10|20|92|18p11.32|TYMS, TS, TMS|C|Thymidylate synthase||188350|S, A|<50 kb from YES1||| | ||
18.7|8|26|09|18p11.32|THOC1, HPR1|P|THO complex 1 (nuclear matrix protein p84)||606930|R, REc|||| | ||
18.8|3|14|06|18p11.32-p11.31|DFNB46|P|Deafness, neurosensory, autosomal recessive 46||609647|Fd|between D18S59 and D18S391||Deafness, autosomal recessive 46 (2)| | ||
18.9|11|30|06|18p11.31|ARHGAP28, KIAA1314|P|RHO GTPase-activating protein 28||610592|R, REc|||| | ||
18.10|6|1|94|18p11.31-p11.23|LAMA1|P|Laminin, alpha-1||150320|A|||| | |17(Lama)|
18.11|7|20|09|18p11.31|MYL12B, MRLC2|P|Myosin, light chain 12B, regulatory||609211|R, REc|||| | ||
18.12|12|4|12|18p11.31|MYOM1, SKELEMIN|C|Myomesin 1||603508|Psh, A, REc|||| | ||
18.13|11|12|98|18p11.31|MYP2|P|Myopia, high grade, autosomal dominant 1||160700|Fd|||Myopia-2 (2)| | ||
18.14|11|16|10|18p11.22|NDUFV2|C|NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kD||600532|REa, A|pseudogene on 19q13.3-qter||Mitochondrial complex I deficiency, 252010 (3)| | ||
18.15|11|13|12|18p11.3|POROK6, DSAP4|P|Porokeratosis 6||612353|Fd|between telomere and D18S391||Porokeratosis 6 (2)| | ||
18.16|4|3|01|18p11.31|EPB41L3, DAL1|P|Erythrocyte membrane protein band 4.1-like 3||605331|REc|||| | ||
18.17|11|18|11|18p11.3|MRT19|P|Mental retardation, autosomal recessive 19||614343|Fd|between rs4606805 and rs1787846||Mental retardation, autosomal recessive 19 (2)| | ||
18.18|3|6|01|18p11.22|RAB31|P|Ras-associated protein RAB31||605694|REa, REc|||| | ||
18.19|5|4|10|18p11.31|TGIF, HPE4|C|TG-interacting factor||602630|Ch, A|||Holoprosencephaly-4, 142946 (3)| | ||
18.20|4|25|93|18p11.32|YES1|C|Oncogene YES-1||164880|REa, REn, A|<50 kb from TYMS||| | ||
18.21|2|12|07|18p11.3-p11.2|AA1|P|Alopecia areata 1||104000|Fd|max lod at D18S967||Alopecia areata 1 (2)| | ||
18.22|7|13|93|18p11.21|PTPN2, PTPT|C|Protein tyrosine phosphatase, nonreceptor-type, 2||176887|REc, A|||| | |18(Ptpt)|
18.23|5|2|07|18p11.3-p11.2|STUT1|P|Stuttering, familial persistent 1||184450|Fd|max lod at D18S976||Stuttering, familial persistent 1 (2)| | ||
18.24|9|27|02|18p11.22|TWSG1, TSG|P|Twisted gastrulation, Drosophila, homolog of||605049|R|||| | |17(Tsg)|
18.25|12|18|08|18p11.23|PSORS10|P|Psoriasis susceptibility 10||612410|Fd|between D18S63 and D18S967||{Psoriasis susceptibility 10} (3)| | ||
18.26|6|18|99|18p11.21|RNMT, MET|P|RNA guanine-7-methyltransferase||603514|A, R|||| | ||
18.27|1|28|05|18p11.23-q12.2|ANIC|P|Anosmia, isolated congenital||107200|Fd|max lod at D18S1108||Anosmia, isolated congenital (2)| | ||
18.28|11|30|06|18p11.22|ANKRD12, ANCO1, KIAA0874|P|Ankyrin repeat domain-containing protein 12||610616|R, REc|||| | ||
18.29|11|1|13|18p11.22-p11.21|PIEZO2, FAM38B|P|PIEZO-type mechanosensitive ion channel component 2||613629|REc|||| | ||
18.30|8|26|09|18p11.22|PPP4R1, PP4R1|P|Protein phosphatase 4, regulatory subunit 1||604908|R, REc|||| | ||
18.31|8|26|09|18p11.22|VAPA, VAP33|P|Vesicle-associated membrane protein-associated protein A||605703|R, REc|||| | ||
18.32|2|14|12|18p11.21|CIDEA|P|Cell death-inducing DFFA-like effector A||604440|REc|||| | ||
18.33|6|4|13|18p11.21|GNAL, DYT25|C|Guanine nucleotide-binding protein, alpha-subunit, olfactory type||139312|REc|||Dystonia 25, 615073 (3)| | |18(Gnal)|
18.34|10|28|08|18p11.21|PSMG2, TNFSF5IP1, HCCA3, CLAST3, PAC2|P|Proteasome (prosome, macropain) assembly chaperone 1||609702|R, REc|||| | ||
18.35|4|14|05|18p11.21|SEH1L, SEH1, SEC13L|P|Seh1-like protein||609263|REc|||| | ||
18.36|3|14|13|18p11.21|TUBB6|P|Tubulin, beta-6||615103|REc|||| | ||
18.37|6|18|99|18p11.31|ZFP161, ZF5|P|Zinc finger protein-161||602126|Psh|||| | |17(Zfp161)|
18.38|12|19|01|18p11.21|C18orf1|P|Chromosome 18 open reading frame 1||606571|REc|||| | ||
18.39|9|30|02|18p11.2|DYX6, DYXQTL18|P|Dyslexia, susceptibility to, 6||606616|Fd|||{Dyslexia, susceptibility to, 6} (2)| | ||
18.40|8|9|05|18p11.2|FEB6|P|Febrile seizures, familial, 6||609253|Fd|max lod at D18S1158||Febrile seizures, familial, 6 (2)| | ||
18.41|5|16|01|18p11.21|IMPA2|P|Myo-inositol monophosphatase 2||605922|REc|||| | ||
18.42|12|4|02|18p11.21|MC2R|C|Melanocortin-2 receptor (ACTH receptor)||607397|A, Psh|||Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)| | |18(Mc2r)|
18.43|5|17|95|18p11.21|MC5R|P|Melanocortin-5 receptor||600042|A|||| | ||
18.44|3|20|08|18p11.21|MPPE1|P|Metallophosphoesterase 1||611900|REc|||| | ||
18.45|11|4|93|18p11.23|PTPRM, PTPRL1, RPTPM|C|Protein tyrosine phosphatase, receptor type, mu polypeptide||176888|REa, A|||| | ||
18.46|7|13|93|18p11.32|ADCYAP1|P|Adenylate cyclase activating polypeptide-1 (pituitary)||102980|A|||| | ||
18.47|3|29|12|18p11.21|AFG3L2, SCA28, SPAX5|C|ATPase family gene 3-like 2||604581|R, Fd|||Spinocerebellar ataxia 28, 610246 (3); Ataxia, spastic, 5,|autosomal recessive, 614487 (3) | ||
18.48|8|30|11|18p11.22|APCDD1, HHS, HTS|P|Adenomatosis polyposis coli down-regulated 1||607479|REc|||Hypotrichosis simplex, 605389 (3)| | ||
18.49|3|29|07|18p11.21|CHMP1B, C10orf2|P|CHMP family, member 1B||606486|REc|||| | ||
18.50|1|16|03|18p11|DYT15|P|Dystonia-15, myoclonic||607488|Fd|||Dystonia-15, myoclonic (2)| | ||
18.51|10|28|08|18p11|IBD21|P|Inflammatory bowel disease 21||612354|Fd|associated with rs2542151||{Inflammatory bowel disease 21} (2)| | ||
18.52|8|27|01|18p11.22|RALBP1, RLIP76|P|RALA-binding protein 1||605801|A|||| | ||
18.53|1|24|09|18p|DEL18p, C18DELp|P|Chromosome 18p deletion syndrome||146390|Ch|||Chromosome 18p deletion syndrome (4)| | ||
18.54|5|26|98|18p|DYT7|P|Dystonia-7 (torsion dystonia, adult-onset, focal)||602124|Fd|||Dystonia-7, torsion (2)| | ||
18.55|1|15|09|18p11.31|LPIN2|P|Lipin 2||605519|REc|||Majeed syndrome, 609628 (3)| | |17(Lpin2)|
18.56|5|6|08|18p|MAFD1, BPAD, MD1|L|Major affective disorder 1||125480|Fd|?also 18q||{Major affective disorder 1} (2)| | ||
18.57|12|15|98|18p|SCZD8|P|Schizophrenia susceptibility locus, chromosome 18-related||603206|Fd|||{Schizophrenia}, 181500 (2)| | ||
18.58|10|18|11|18p|TET18P|P|Tetrasomy 18p||614290|Ch|||Tetrasomy 18p (4)| | ||
18.59|2|28|03|18p11.32|USP14, TGT|C|Ubiquitin-specific protease 14||607274|R, REc|||| | |18(Usp14, ax)|
18.60|11|16|08|18q|DEL18q|C|Chromosome 18q deletion syndrome||601808|DS|||Chromosome 18q deletion syndrome (4)| | ||
18.61|11|12|98|18q|OHDS|P|Orthostatic hypotensive disorder of Streeten||143850|Fd|||Orthostatic hypotensive disorder of Streeten (2)| | ||
18.62|8|20|99|18q21.1|RPL17|P|Ribosomal protein L17||603661|REa, R|||| | ||
18.63|10|26|99|18q12.1|B4GALT6|P|Beta-1,4-galactosyntransferase 6||604017|TM|||| | ||
18.64|3|13|03|18q11.2|NPC1, NPC|C|NPC1 gene||607623|Ch, H, Fd, M|some families not linked to 18; type D prob. allelic||Niemann-Pick disease, type C1, 257220 (3); Niemann-Pick disease,|type D, 257220 (3) | |18(spm)|
18.65|5|7|03|18q11.2|OSBPL1A, ORP1|P|Oxysterol-binding protein-like protein 1A||606730|R, REc|||| | ||
18.66|4|5|11|18q12.3|SLC14A1, JK, UTE, UT1|C|Solute carrier family 14 (urea transporter), member 1 (Kidd blood|group)|613868|Fd, EM, A|previous suggestion of chr.7 or chr.2||[Blood group, Kidd], 111000 (3)| | ||
18.67|8|29|08|18q11.2|ABHD3, LABH3|P|Abhydrolase domain-containing 3||612197|R, REc|||| | ||
18.68|1|28|09|18q11.1|ROCK1|P|RHO-associated coiled-coil-containing protein kinase 1||601702|R, REc|||| | ||
18.69|2|24|12|18q11.2|GATA6, AVSD5, ASD9, AVSD5, PACHD|P|GATA-binding protein-6||601656|A|||Atrioventricular septal defect 5, 614474 (3); Atrial septal defect 9,|614475 (3); Pancreatic agenesis and congenital heart defects, 600001 (3); Persistent truncus arteriosus, 217095 (3); Tetralogy of Fallot, 187500 (3)| ||
18.70|8|11|98|18q12.1|CDH2, NCAD|C|Cadherin 2 (cadherin, neuronal type; N-cadherin)||114020|REa, A|||| | |18(Ncad)|
18.71|12|28|08|18q11.2|ESCO1, ECO1, CTF, ESO1, EFO1, KIAA1911|P|Establishment of cohesion 1, S. cerevisiae, homolog of, 1||609674|REc|||| | ||
18.72|5|6|03|18q11.2|HRH4, HH4R|C|Histamine receptor H4||606792|REc, R|||| | ||
18.73|7|22|13|18q11.2|KCTD1, SENS|P|Potassium channel tetramerization domain-containing 1||613420|REc|||Scalp-ear-nipple syndrome, 181270 (3)| | ||
18.74|10|15|03|18q11.2|LAMA3, LOCS|P|Laminin, alpha-3 (nicein, 150kD; kalinin, 165kD; BM600, 150kD;|epilegrin)|600805|A|||Epidermolysis bullosa, junctional, Herlitz type, 226700 (3);|Epidermolysis bullosa, generalized atrophic benign, 226650 (3); Laryngoonychocutaneous syndrome, 245660 (3)| ||
18.75|3|1|13|18q11.2|MIB1, MIB, DIP1, KIAA1323, LVNC7|P|Mindbomb, Drosophila, homolog of, 1||608677|REc, R|||Left ventricular noncompaction 7, 615092 (3)| | ||
18.76|5|24|13|18q11.2|MIR1-2|P|Micro RNA 1-2||610252|REc|||| | ||
18.77|5|24|13|18q11.2|MIR133A1|P|Micro RNA 133A1||610254|REc|||| | ||
18.78|2|21|12|18q11.2|RBBP8, RIM, SCKL2, JWDS|P|Retinoblastoma-binding protein 8||604124|A|||Pancreatic carcinoma, somatic (3); Seckel syndrome 2, 606744 (3);|Jawad syndrome, 251255 (3) | ||
18.79|6|26|01|18q11.2|SS18, SSXT, SYT|C|Synovial sarcoma translocation, chromosome 18||600192|Ch, RE|5' SYST/3' SSRC in t(X;18)||Sarcoma, synovial (1)| | ||
18.80|6|18|99|18q11.2|SUDD|P|sudD, Aspergillus nidulans, homolog of||603579|A, REc, Psh|||| | ||
18.81|8|26|09|18q11.2|TAF4B, TAF2C2, TAFII105|P|TAF4b RNA polymerase II, TATA box-binding protein-associated factor,|105kD|601689|R, REc|||| | ||
18.82|11|1|13|18q11.2|TMEM241, C18orf45|P|Transmembrane protein 241||615430|REc|||| | ||
18.83|5|22|07|18q11.2|ZNF521, EHZF, EVI3|P|Zinc finger protein 521||610974|REc|||| | ||
18.84|12|13|96|18q11.2|AQP4, MIWC|P|Aquaporin-4||600308|A, Psh|||| | |18(Aqp4)|
18.85|7|23|13|18q11.2|IMPACT|P|Impact RWD domain protein||615319|REc, H|||| | |18(Impact)|
18.86|2|26|10|18q12.1|TTR, PALB|C|Transthyretin (prealbumin)||176300|REa, A|||Amyloidosis, hereditary, transthyretin-related, 105210 (3);|[Dystransthyretinemic hyperthyroxinemia], 145680 (3); Carpal tunnel syndrome, familial, 115430 (3)| |18(Palb)|
18.87|5|23|11|18q11.2-q12.2|APMR3|P|Alopecia-mental retardation syndrome 3||613930|Fd|between D18S866 and D18S811||Alopecia-mental retardation syndrome 3 (2)| | ||
18.88|8|2|13|18q12.2|CELF4, BRUNOL4|P|CUGbp- and ELAV-like family, member 4||612679|REc|||| | ||
18.89|6|23|03|18q12.1|DSG4, LAH|P|Desmoglein 4||607892|REn|||Hypotrichosis, localized, autosomal recessive, 607903 (3)| | ||
18.90|9|21|11|18q21.1|IER3IP1, MEDS|P|Immediate-early response 3-interacting protein 1||609382|REc|||Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)| | ||
18.91|7|18|12|18q12.2|RPRD1A, P15RS, FLJ10656|P|Regulation of nuclear pre-mRNA domain-containing protein 1A||610347|REc|||| | ||
18.92|10|1|90|18q12.2|ZNF24|P|Zinc finger protein-24 (KOX17)||194534|REa, A|||| | ||
18.93|10|4|05|18q12.2|ZNF396|P|Zinc finger protein-396||609600|REc|||| | ||
18.94|10|4|05|18q12.2|ZNF397|P|Zinc finger protein-397||609601|REc|||| | ||
18.95|5|1|02|18q12.2|ZNFEB, ZNF271|P|Epstein-Barr virus-induced zinc finger protein||604754|REc|||| | ||
18.96|5|24|13|18q21.1|ATP5A1, ATPM, ATP5A, ORM, MC5DN4|C|ATP synthase, H+ transporting (ATPase, mitochondrial)||164360|S, REa, A|pseudogenes on chr. 2, chr. 9, and chr.16; 1 family identified with|mutation|?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4,|615228 (3) | ||
18.97|10|13|09|18q21.1|LOXHD1, DFNB77|P|Lipoxygenase homology domains-containing 1||613072|REc|||Deafness, autosomal recessive 77, 613079 (3)| | ||
18.98|5|29|97|18q21.1-q21.2|MAPK4, PRKM4, ERK3|P|Mitogen-activated protein kinase 4||176949|REa, A|||| | ||
18.99|11|13|01|18q12.1-q12.2|MAPRE2, EB2, RP1|C|Microtubule-associated protein, RP/EB family, member 2||605789|R, A|||| | ||
18.100|3|4|05|18q21.1|DYM, FLJ90130, DMC, SMC|C|Dymeclin||607461|REc, Fd|||Dyggve-Melchior-Clausen disease, 223800 (3); Smith-McCort dysplasia,|607326 (3) | ||
18.101|11|10|13|18q12.1|ASXL3, KIAA1713, BRPS|P|Additional sex combs-like 3||615115|REc|||Bainbridge-Ropers syndrome, 615485 (3)| | ||
18.102|8|25|09|18q12.1|DSC1|P|Desmocollin-1||125643|REa, REc|||| | ||
18.103|6|4|12|18q12.1|DSC2, DSC3, ARVD11|C|Desmocollin-2||125645|REa, Psh, H, REn, A|||Arrhythmogenic right ventricular dysplasia 11, 610476 (3);|Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3)| |18(Dsc2)|
18.104|11|11|09|18q12.1|DSC3, DSC4|C|Desmocollin-3||600271|A, Psh|||Hypotrichosis and recurrent skin vesicles, 613102 (3)| | ||
18.105|2|12|99|18q12.2|GALNT1|C|UDP-N-acetyl-alpha-D-galactosamine:polypeptide|N-acetylgalactosaminyltransferase 1|602273|A|||| | ||
18.106|2|24|11|18q12.1|KLHL14, PRINTOR, KIAA1384|P|Kelch-like 14||613772|REc|||| | ||
18.107|5|24|13|18q12.1|RNF125, TRAC1|P|RING finger protein 125||610432|REc|||| | ||
18.108|9|8|11|18q12.1|TRAPPC8, KIAA1012|P|Trafficking protein particle complex, subunit 8||614136|R, REc|||| | ||
18.109|11|22|13|18q12.1|DSG1, PPKS1, SPPK1, EPKHE|C|Desmoglein-1||125670|REa, A, REn|pemphigus foliaceous antigen||Keratosis palmoplantaris striata I, AD, 148700 (3); Erythroderma,|congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)| |18(Dsg1)|
18.110|7|17|09|18q12.1|DSG2, ARVD10, ARVC10, CMD1BB|C|Desmoglein-2||125671|Psh, REn|||Arrhythmogenic right ventricular dysplasia 10, 610193 (3);|Cardiomyopathy, dilated, 1BB, 612877 (3) | ||
18.111|5|26|94|18q12.1|DSG3|C|Desmoglein-3 (pemphigus vulgaris antigen)||169615|Psh, A, REn|||| | |18(Dsg3)|
18.112|6|16|10|18q12.1|DTNA, D18S892E, DRP3, LVNC1|P|Dystobrevin, alpha (dystrophin-related protein 3)||601239|A|||Left ventricular noncompaction 1, with or without congenital heart|defects, 604169 (3) | ||
18.113|9|22|98|18q12.3|SLC14A2, UT2, UTR|P|Solute carrier family 14 (urea transporter), member 2||601611|A|||| | ||
18.114|8|18|08|18q11.2|CABYR, FSP2|P|Calcium-binding tyrosine phosphorylation-regulated protein||612135|REc|||| | |18(Cabyr)|
18.115|12|28|08|18q12.2|FHOD3, FHOS2, KIAA1695|P|Formin homology-2 domain-containing protein 3||609691|REc|||| | ||
18.116|3|31|09|18q12.2|MIR187, MIRN187|P|Micro RNA 187||612698|REc|||| | ||
18.117|3|4|10|18q12.2|MOCOS, MCS|P|Molybdenum cofactor sulfurase||613274|REc|||| | ||
18.118|3|27|95|18q12.1|MEP1B|P|Meprin A, beta||600389|REa|||| | |8(Mep1b)|
18.119|9|28|00|18q12.2-q12.3|OPA4|P|Optic atrophy-4||605293|Fd|||Optic atrophy-4 (2)| | ||
18.120|10|4|12|18q12.3|RIT2, RIN, ROC2|P|Ric-like protein without CAAX motif 2||609592|REc, R|||| | ||
18.121|2|14|01|18q12.3|SYT4|P|Synaptotagmin-4||600103|A|||| | |18(Syt4)|
18.122|11|3|11|18q12.3|VUR6|P|Vesicoureteral reflux 6||614319|Fd|closest marker rs1054986||Vesicoureteral reflux 6 (2)| | ||
18.123|3|1|13|18q12.3-q21.1|EPG5, KIAA1632, HEEW1, VICIS|C|Ectopic P-granules autophagy protein 5, C. elegans, homolog of||615068|REc, Psh|||Vici syndrome, 242840 (3)| | ||
18.124|12|7|12|18q21.31|ATP8B1, FIC1, BRIC, PFIC1, ICP1|P|ATPase, class I, type 8B, member 1||602397|Fd, LD|||Cholestasis, progressive familial intrahepatic 1, 211600 (3);|Cholestasis, benign recurrent intrahepatic, 243300 (3); Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)| ||
18.125|12|2|05|18q21|ALS3|P|Amyotrophic lateral sclerosis 3||606640|Fd|||Amyotrophic lateral sclerosis 3 (2)| | ||
18.126|3|3|10|18q21.2|C18orf54, LAS2|P|Chromsoome 18 open reading frame 54||613258|REc|||| | |18(C18orf54)|
18.127|9|16|03|18q21.2|ELAC1, D29|P|Elac, E. coli, homolog of, 1||608079|REc|||| | ||
18.128|10|23|87|18q21.32|GRP|C|Gastrin-releasing peptide||137260|REa, A|mammalian equivalent of bombesin||| | |18(Grp)|
18.129|12|9|98|18q21|IDDM6|P|Insulin-dependent diabetes mellitus-6||601941|Fd, LD|||{Diabetes mellitus, insulin-dependent, 6} (2)| | ||
18.130|8|24|98|18q21.1|MADH2, JV18, SMAD2|P|Mothers against decapentaplegic, Drosophila, homolog of, 2||601366|REn|||| | ||
18.131|11|1|13|18q21.32|MALT1, MLT, IMD12|P|Mucosa-associated lymphoid tissue lymphoma translocation gene 1||604860|Ch|fused with API2 in MALT lymphoma; mutation identified in 1 family||?Immunodeficiency 12, 615468 (3)| | ||
18.132|12|11|02|18q21.2|MBD2|P|Methyl-CpG-binding domain protein 2||603547|Psh, A|||| | |18(Mbd2)|
18.133|10|6|09|18q21.2|ME2, ODS1|C|Malic enzyme, mitochondrial||154270|REc|10cM distal to F13A; previously mapped to chr.6||{Epilepsy, idiopathic generalized, susceptibility to}, 600669 (3);|{Opioid dependence, susceptibility to}, 610064 (3) | |7(Mod2)|
18.134|3|23|09|18q21.31|MIR122A, MIRN122A|P|Micro RNA 122A||609582|REc|||| | ||
18.135|8|27|08|18q21.2|MRO, B29|P|Maestro||608080|REc|||| | ||
18.136|1|24|09|18q21.1|MYO5B, KIAA1119|C|Myosin VB||606540|REc, H|||Microvillus inclusion disease, 251850 (3)| | |18(Myo5b)|
18.137|2|20|03|18q21.31|NEDD4L, KIAA0439, RSP5|C|Ubiquitin protein ligase NEDD4-like||606384|R|||| | ||
18.138|4|25|93|18q21|SSAV1|C|Simian sarcoma-associated virus-1/Gibbon ape leukemia virus||182090|REa, A|||| | ||
18.139|9|10|07|18q22.1|DSEL, C18orf4, NCAG1|P|Dermatan sulfate epimerase-like||611125|REc|||| | ||
18.140|6|28|02|18q21.2|STARD6|P|Start domain-containing protein 6||607051|REc|||| | ||
18.141|7|19|12|18q21.1|ACAA2|P|Acetyl-CoA acyltransferase 2||604770|REc|||| | ||
18.142|8|31|12|18q21.1|CCDC11, HTX6|P|Coiled-coil domain-containing protein 11||614759|REc|||Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)| | ||
18.143|6|1|10|18q21.1|HAUS1, CCDC5, HEIC|P|HAUS augmin-like complex, subunit 1||608775|REc|pseudogenes on 5, 8, and X||| | ||
18.144|7|6|12|18q21.1|KATNAL2|P|Katanin, p60 subunit, A-like protein 2||614697|REc|||| | ||
18.145|12|21|09|18q21.1|KIAA0427, CTIF|P|KIAA0427 gene||613178|R|||| | ||
18.146|12|17|07|18q21.1|LIPG, EL, EDL|P|Lipase, endothelial||603684|REc|||| | ||
18.147|12|5|13|18q21.2|MADH4, DPC4, SMAD4, JIP, MYHRS|C|Mothers against decapentaplegic, Drosophila, homolog of, 4||600993|D, R|||Pancreatic cancer, somatic, 260350 (3);|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3); Myhre syndrome, 139210 (3);|Polyposis, juvenile intestinal, 174900 (3) ||
18.148|7|6|99|18q21.1|MBD1, PCM1|P|Methyl=CpG binding domain protein 1 (protein containing methyl-CpG|binding domain 1)|156535|R|||| | |18(Mbd1)|
18.149|10|24|00|18q21.2|POLI, RAD30B|P|Polymerase, DNA, iota||605252|REc, A|||| | |18(Rad30b)|
18.150|3|14|12|18q12.3|SETBP1, KIAA0437, SEB|P|SET-binding protein 1||611060|R, A, ch|fused with NUP98 in ALL||Schinzel-Giedion midface retraction syndrome, 269150 (3)| | ||
18.151|8|26|09|18q21.1|SIAT8E|P|Sialyltransferase 8E||607162|R, REc|||| | ||
18.152|8|20|08|18q21.1|SMAD7, MADH7, CRCS3|C|Mothers against decapentaplegic, Drosophila, homolog of, 7||602932|REa, A|||{Colorectal cancer, susceptibility to, 3}, 612229 (3)| | ||
18.153|8|26|09|18q22.2|SOCS4, SSI4, STAT4, CIS4|P|Suppressor of cytokine signaling 4||605118|R, REc|||| | ||
18.154|5|25|00|18q21.31|ONECUT2, OC2|P|One cut domain, family member 2||604894|R|||| | ||
18.155|7|13|95|18q21.1-q21.3|CORD1, CRD1|P|Cone rod dystrophy 1, autosomal dominant||600624|Ch|||Cone-rod retinal dystrophy-1 (2)| | ||
18.156|8|26|09|18q21.31|NARS, ASNRS|P|Asparaginyl-tRNA synthetase||108410|REa, S, REc|||| | ||
18.157|12|4|08|18q21.2|HYT8|P|Hypertension, essential, susceptibility to, 8||611014|Fd|associated with rs1941958 and rs1893379||{Hypertension, essential, susceptibility to, 8} (2)| | ||
18.158|4|17|13|18q21.31|LINC-ROR|P|Long intergenic noncoding RNA, regulator of reprogramming||615173|REc|||| | ||
18.159|12|4|08|18q21.2|MEX3C, RKHD2|P|Mex-3, C. elegans, homolog of, C||611005|REc|||| | ||
18.160|1|26|11|18q21.2|TCF4, SEF2, ITF2, PTHS|C|Transcription factor-4 (immunoglobulin transcription factor-2)||602272|Fd, R, Ch|||Pitt-Hopkins syndrome, 610954 (3)| | ||
18.161|3|4|10|18q21.2-q21.3|FECD3, FCD2|P|Corneal dystrophy, Fuchs endothelial, 3||613267|Fd|max lod at D18S1129||Corneal dystrophy, Fuchs endothelial, 3 (2)| | ||
18.162|10|10|05|18q21.33|BCL2|C|B-cell CLL/lymphoma-2||151430|Ch, RE, REn|most frequent hematologic malignancy|t(14;18)(q32;q21)|Leukemia/lymphoma, B-cell, 2 (3)| | |1(Bcl2)|
18.163|5|27|97|18q21.3|CNSN|P|Carnosinemia (carnosinase)||212200|Ch|||Carnosinemia (2)| | ||
18.164|5|6|13|18q21.2|DCC, MRMV1|C|Deleted in colorectal carcinoma||120470|D, RE|||Mirror movements 1, 157600 (3); Colorectal cancer, somatic, 114500|(3); Esophageal carcinoma, somatic 133239 (3) | |18(Dcc)|Boman (1988)
18.165|8|26|11|18q21.31|FECH, FCE|C|Ferrochelatase||612386|A, REb|||Protoporphyria, erythropoietic, autosomal recessive, 177000 (3)| | ||
18.166|3|23|95|18q21.33|FVT1|P|Follicular lymphoma, variant translocation 1||136440|RE|~10kb 5' to BCL2||Lymphoma/leukemia, B-cell, variant (1)| | ||
18.167|6|25|08|18q22.1|HMSD|P|Minor histocompatibility antigen, serpin domain-containing||612086|REc|||| | ||
18.168|5|17|95|18q21.33|PI5, SERPINB5|P|Protease inhibitor 5 (maspin)||154790|REn, Psh|in cluster of serpins||| | ||
18.169|11|5|97|18q22.1|PI8, CAP2, SERPINB8|P|Protease inhibitor 8, ovalbumin type||601697|Psh, REn|||| | ||
18.170|3|14|08|18q21.32|RAX, RX, MCOP3|C|Retina and anterior neural fold homeobox gene||601881|REc|||Microphthalmia, isolated 3, 611038 (3)| | ||
18.171|6|7|10|18q21.33|SERPINB2, PAI2, PLANH2|C|Serpin peptidase inhibitor, clade B (ovalbumin), member 2|(Plasminogen activator inhibitor, type II (arginine-serpin))|173390|REa, A, REn|600kb telomeric to BCL2||| | ||
18.172|11|27|00|18q21.33|SERPINB13, PI13, HURPIN|P|Protease inhibitor 13||604445|REc|||| | ||
18.173|4|11|11|18q21.33|SERPINB3, SCCA1|C|Serpin peptidase inhibitor, clade B (ovalbumin), member 3|(squamous cell carcinoma antigen 1)|600517|REn, Psh, A|||| | ||
18.174|3|21|02|18q21.33|SERPINB4, SCCA2|P|Serpin peptidase inhibitor, clade B (ovalbumin), member 4|(squamous cell carcinoma antigen 2)|600518|REn|||| | ||
18.175|1|7|14|18q21.33|SERPINB7, MEGSIN, PPKN|P|Serpin peptidase inhibitor, clade B (ovalbumin), member 7||603357|REc|||Palmoplantar keratoderma, Nagashima type, 615598 (3)| | ||
18.176|11|5|97|18q21.3-q22.1|SERPINB10, PI10|P|Protease inhibitor 10, ovalbumin type (bomapin)||602058|Psh, REn|||| | ||
18.177|3|24|06|18q21.33|VPS4B, SKD1|C|Vacuolar protein sorting 4, yeast, homolog of, B||609983|R, A, REc, H|||| | |1(Vps4b)|
18.178|9|29|10|18q21.31|WDR7, TRAG, KIAA0541|C|WD repeat-containing protein 7||613473|R, A, H, REc|||| | |18(Wdr7)|
18.179|6|16|98|18q21.32|LMAN1, ERGIC53, F5F8D, MCFD1|C|Lectin, mannose-binding, 1||601567|A, Fd|||Combined factor V and VIII deficiency, 227300 (3)| | ||
18.180|7|20|12|18q21.31|TXNL1, TXNL|P|Thioredoxin-like 1||603049|REc|||| | ||
18.181|3|15|10|18q21.32|CCBE1, KIAA1983|P|Collagen and calcium-binding EGF domain-containing protein 1||612753|REc|||Hennekam lymphangiectasia-lymphedema syndrome, 235510 (3)| | ||
18.182|3|8|12|18q21.33|PHLPP1, SCOP, KIAA0606|P|PH domain and leucine-rich repeat protein phosphatase||609396|REc|||| | ||
18.183|7|22|11|18q21.33|PIGN, MCAHS1|P|Phosphatidylinositol glycan, class N||606097|R, REc|||Multiple congenital anomalies-hypotonia-seizures syndrome 1,|614080 (3) | ||
18.184|1|20|09|18q22|DUP18pDEL18q, DUP81qDEL18p|P|Chromosome 18 pericentric inversion||609334|Ch|||Chromosome 18 pericentric inversion (4)| | ||
18.185|11|19|98|18q21.32|MC4R|C|Melanocortin-4 receptor||155541|A, R|||Obesity, autosomal dominant, 601665 (3)| | ||
18.186|4|1|01|18q22.1|CDH7|P|Cadherin-7||605806|Psh, A|||| | ||
18.187|4|2|01|18q22.1|CDH19, CDH7|P|Cadherin 19||603016|Psh, A|||| | ||
18.188|4|2|01|18q21.33|CDH20|P|Cadherin 20||605807|Psh, A|||| | ||
18.189|7|23|03|18q22.3|NETO1, BCTL1|P|Neuropilin and tolloid like 1||607973|REc|||| | ||
18.190|1|8|01|18q23|ZNF236|P|Zinc finger protein-236||604760|REa, A|||| | ||
18.191|10|23|87|18q23|MBP|C|Myelin basic protein||159430|REa, A|defective in "shiverer," neurologic mutant in mouse||| | |18(Mbp, shi)|
18.192|9|23|08|18q21.33|TNFRSF11A, RANK, ODFR, OFE, OPTB7|C|Tumor necrosis factor receptor superfamily, member 11A||603499|R, RE, Fd|||Osteolysis, familial expansile, 174810 (3); Paget disease of bone,|602080 (3); Osteopetrosis, autosomal recessive 7, 612301 (3) | ||
18.193|11|14|12|18q22.1-q22.3|ECTD8|P|Ectodermal dysplasia 8, hair/tooth/nail type||602401|Fd|between D18S857 and D18S815||Ectodermal dysplasia 8, hair/tooth/nail type (2)| | ||
18.194|9|27|12|18q22.2|RTTN, PMGYS|P|Rotatin||610436|REc|||Polymicrogyria with seizures, 614833 (3)| | |18(Rttn)|
18.195|1|30|12|18q23|ATP9B|P|ATPase, class II, type 9B||614446|REc|||| | ||
18.196|1|24|13|18q22.3|CBLN2|P|Cerebellin 2 precursor||600433|H, REc|||| | |18(Cbln1)|
18.197|5|18|10|18q22.3|CNDP1, CN1|P|Carnosine dipeptidase 1||609064|R, REc|||| | ||
18.198|1|31|01|18q22.2|DNAM1, CD226|P|DNAX accessory molecule 1||605397|A|||| | ||
18.199|4|2|12|18q22.3|FAM69C|P|Family with sequence similarity 69, member C||614544|REc|||| | ||
18.200|9|9|08|18q22.3|FBXO15, FBX15|P|F-box only protein 15||609093|REc|||| | |18(Fbxo15)|
18.201|4|17|13|18q22.3|TIMM21, TIM21|P|Translocase of inner mitochondrial membrane 21, yeast, homolog of||615180|REc|||| | ||
18.202|1|30|12|18q22.3|TSHZ1, TSH1, CAA|P|Teashirt zinc finger homeobox 1||614427|REc|||Aural atresia, congenital, 607842 (3)| | ||
18.203|1|11|07|18q22.3-q23|CAA|P|Aural atresia, congenital||607842|Ch|||Aural atresia, congenital (2)| | ||
18.204|5|31|05|18q23|CTDP1, FCP1, CCFDN|P|C-terminal domain of RNA polymerase II subunit A, phosphatase of,|subunit 1|604927|Fd, REc|||Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)| | ||
18.205|2|21|10|18q22.3|CYB5A, MCB5|C|Cytochrome b5||613218|Psh, REa, A|pseudogenes on X, 14q, 20p||Methemoglobinemia, type IV, 250790 (3)| | ||Hegesh (1991); Shephard (1991)
18.206|12|18|98|18q23|GALR1, GALNR1, GALNR|C|Galanin receptor 1||600377|A, H, REc|||| | |18(Galnr)|
18.207|5|17|95|18q23|NFATC1|P|Nuclear factor of activated T cells, cytoplasmic,|calcineurin-dependent 1|600489|REa, R|||| | |18(Nfatc)|
18.208|11|2|04|18q23|PARD6G|P|partitioning-defective protein 6, C. elegans, homolog of||608976|R, REc|||| | ||
18.209|10|23|87|18q22.3|PEPA|C|Peptidase A||169800|S, D|||| | |18(Pep1)|
18.210|7|22|09|18q23|SALL3|P|Sal-like 3||605079|A|||| | ||
18.211|2|23|08|18q23|TXNL4A, DIM1|P|Thioredoxin-like 4A||611595|R, REc|||| | ||
18.212|3|15|13|18q23|ZNF516, KIAA0222|C|Zinc finger protein 516||615114|REc, R|||| | ||
19.1|9|20|11|19pter-p13.1|FPH1, MUH, HPP|P|Hyperpigmentation, familial progressive, 1||614233|Fd|||Hyperpigmentation, familial progressive, 1 (2)| | ||
19.2|10|23|87|19pter-q13|CXB3S|P|Coxsackie virus B3 sensitivity||120050|S|||| | ||
19.3|11|1|13|19p13.3|EEF2, EF2, SCA26|C|Eukaryotic translation elongation factor-2||130610|S|mutation identified in 1 family||?Spinocerebellar ataxia 26, 609306 (3)| | ||
19.4|12|24|08|19p13.3|ABCA7, ABCX|P|ATP-binding cassette, subfamily A, member 7||605414|REc|||| | ||
19.5|12|15|10|19p13.3|ACER1|P|Alkaline ceraminidase 1||613491|REc|||| | ||
19.6|12|6|11|19p13.3|ACSBG2, BGR|P|Acyl-CoA synthetase, bubblegum family, member 2||614363|REc|||| | ||
19.7|8|1|13|19p13.3|ADAT3, TAD3, MRT36|P|Adenosine deaminase, tRNA-specific, 3||615302|REc|||Mental retardation, autosomal recessive 36, 615286 (3)| | ||
19.8|8|9|99|19p13.3|AES|C|Amino-terminal enhancer of split||600188|REa, A|||| | ||
19.9|3|16|10|19p13.3|ALKBH7, ABH7|P|AlkB, E. coli, homolog of, 7||613305|REc|||| | ||
19.10|1|6|09|19p13.2|ANGPTL4, PGAR, HFARP, FIAF|P|Angiopoietin-like 4||605910|R|||{Reduced triglycerides, susceptibility to} (3)| | ||
19.11|5|24|13|19p13.3|AP3D1|P|Adaptor-related protein complex 3, delta-1 subunit||607246|REc, H|||| | |10(Ap3d1)|
19.12|5|25|13|19p13.3|APBA3, X11L2, MINT3|P|Amyloid beta A4 precursor protein-binding, family A, member 3||604262|REc|||| | ||
19.13|6|9|08|19p13.3|APC2, APCL|C|APC2 gene||612034|A, H|||| | |10(Apc2)|
19.14|11|22|10|19p13.3|DENND1C|P|DENN/MADD domain-containing protein 1C||613634|REc|||| | ||
19.15|9|3|02|19p13.3|IS1, AIS|P|Adolescent idiopathic scoliosis||181800|Fd|||Scoliosis, idiopathic 1 (2)| | ||
19.16|10|26|03|19p13.3|ATCAY, CLAC, KIAA1872|C|Caytaxin||608179|REc, Fd, H|||Ataxia, cerebellar, Cayman type, 601238 (3)| | |10(ji)|
19.17|5|2|01|19p13.3|ATP8B3, ATPIK|P|ATPase, class I, type 8B, member 3||605866|REc|||| | ||
19.18|10|26|92|19p13.3|AZU1, CAP37|P|Azurocidin-1 (cationic antimicrobial protein-37)||162815|A, REn|5\(rm-AZU1-8kb-PR3-3kb-ELAN-3'||| | ||
19.19|3|13|01|19p13.3|BSG|P|Basigin (blood group OK)||109480|A|||[Blood group, OK], 111380 (3)| | |10(Bsg)|
19.20|4|21|10|19p13.3|C2CD4C, NLF3, KIAA1957|P|C2 calcium-dependent domain containing 4C||610336|REc|||| | ||
19.21|8|20|07|19p13.3|C19orf6|P|Membralin||611011|REc|||| | |10(Orf61)|
19.22|11|20|03|19p13.3|C19orf10, SF20, IL25|P|Stroma-derived growth factor 20||606746|REc|||| | |17(Il25)|
19.23|3|8|91|19p13.3|CAPS|P|Calcyphosine||114212|A|||| | ||
19.24|12|5|11|19p13.2|CD209, CDSIGN|C|CD209 antigen||604672|R|||{Dengue fever, protection against}, 614371 (3); {HIV type 1,|susceptibility to}, 609423 (3); {Mycobacterium tuberculosis, susceptibility to}, 607948 (3)| ||
19.25|6|14|94|19p13.3|CDC34|P|Cell division cycle 34||116948|A|||| | ||
19.26|4|26|11|19p13.3|CFD, ADN|C|Complement factor D||134350|REc|||Complement factor D deficiency, 613912 (3)| | ||
19.27|5|28|98|19p13.3|CIRBP|P|Cold-inducible RNA-binding protein||602649|A|||| | ||
19.28|2|28|06|19p13.2|CLEC4M, CD209L, LSIGN, DCSIGNR|P|C-type lectin domain family 4, member M||605872|R|||SARS infection, protection against (2)| | ||
19.29|7|12|13|19p13.3|CLPP, PRLTS3|P|ATP-dependent protease ClpAP, E. coli, proteolytic subunit, homolog of||601119|REa, REc|||Perrault syndrome 3, 614129 (3)| | ||
19.30|2|1|11|19p13.3|CNN2|P|Calonin 2||602373|REc|previously assigned to 21q11.1||| | ||
19.31|11|28|05|19p13.3|CRB3|P|Crumbs, Drosophila, homolog of, 3||609737|R, REc|||| | ||
19.32|4|23|08|19p13.3|CREB3L3, CREBH|P|cAMP responsive element-binding protein 3-like 3||611998|REc|||| | ||
19.33|5|28|98|19p13.3|CSNK1G2|P|Casein kinase 1, gamma-2||602214|Psh, A|||| | ||
19.34|5|26|13|19p13.3|DOHH, HLRC1|P|Deoxyhypusine hydroxylase||611262|REc|||| | ||
19.35|11|22|02|19p13.3|DOT1L, DOT1, KIAA1814|C|Dot1, yeast, homolog of||607375|R, REc|||| | ||
19.36|11|10|98|19p13.3|DRIL1|P|Dead ringer, Drosophila, homolog-like 1||603265|A, REc|||| | ||
19.37|8|27|01|19p13.3|EBI3|P|Epstein-Barr virus-induced gene 3||605816|A|||| | ||
19.38|2|28|03|19p13.3|EFNA2, EPLG6, LERK6|C|Ephrin A2||602756|Psh, A|||| | ||
19.39|6|7|11|19p13.3|ELANE, ELA2, SCN1|C|Elastase, neutrophil-expressed||130130|A, Fd, REc|||Neutropenia, cyclic, 162800 (3); Neutropenia, severe congenital 1,|autosomal dominant, 202700 (3) | |10(Ela2)|
19.40|5|17|95|19p13.3-p13.2|EMR1|P|egf-like module containing, mucin-like, hormone receptor-like|sequence 1|600493|REa, A|||| | |17(Emr1)|
19.41|9|22|08|19p13.2|EMR4, GPR127, EMR4P, FIRE|P|EMR4, mouse, homolog of||612305|REc|||| | ||
19.42|4|25|93|19p13.2|FCER2, FCE2, CD23, CLEC4J|C|Fc fragment of IgE, low affinity II, receptor for (CD23A)||151445|REa, A|||| | ||
19.43|1|5|00|19p13.3|FEB2|P|Febrile seizures, familial, 2||602477|Fd|||Febrile seizures, familial, 2 (2)| | ||
19.44|4|26|01|19p13.3|FGF22|P|Fibroblast growth factor 22||605831|REc|||| | ||
19.45|3|18|07|19p13.3|FSD1, GLFND|C|Fibronectin type 3 and SPRY domains-containing protein 1||609828|REc|||| | ||
19.46|9|17|03|19p13.3|FUT3, LE|C|Fucosyltransferase 3||111100|F, Psh, REn, Fd|cen-FUT5-23kb-FUT3-14kb-FUT6-ter||[Blood group, Lewis] (3)| | ||
19.47|5|17|95|19p13.3|FUT5|P|Fucosyltransferase 5 (alpha (1,3) fucosyltransferase)||136835|A, REn|cen-FUT5-FUT3-FUT6-ter||| | ||
19.48|3|31|11|19p13.3|FUT6|P|Fucosyltransferase 6 (alpha (1,3) fucosyltransferase)||136836|Psh, REn|in cluster with FUT3, FUT5||Fucosyltransferase 6 deficiency, 613852 (3)| | ||
19.49|5|25|00|19p13.3|GADD45B, MYD118|P|Growth arrest- and DNA damage-inducible gene 45, beta||604948|R|||| | ||
19.50|7|18|13|19p13.3|GAMT, CCDS2|P|Guanidinoacetate methyltransferase||601240|Psh, R|||Cerebral creatine deficiency syndrome 2, 612736 (3)| | |10(Gamt)|
19.51|7|26|11|19p13.3|GIPC3, DFNB15, DFNB72, DFNB95|P|GAIP C-terminus-interacting protein 3||608792|REc|||Deafness, autosomal recessive 15, 601869 (3)| | ||
19.52|10|26|98|19p13.3|GPX4|C|Glutathione peroxidase-4 (phospholipid hydroperoxidase)||138322|REa, A|||| | ||
19.53|11|22|94|19p13.3|GTF2F1, RAP74|P|General transcription factor IIF, polypeptide 1 (74kD subunit)||189968|A|||| | ||
19.54|6|9|95|19p13.3|GZMM|P|Granzyme M (lymphocyte met-ase 1)||600311|H|||| | |10(Gzmm)|
19.55|3|30|99|19p13.3|HCDH, FZR|P|CDH1/HCT1, S. cerevisiae, homolog of||603619|REc|||| | ||
19.56|8|9|00|19p13.3|HCN2, BCNG2|P|Hyperpolarization-activated cyclic nucleotide-gated potassium channel|2|602781|REc|||| | ||
19.57|9|22|93|19p13.3|HHC2, FHH2|P|Hypocalciuric hypercalcemia-2||145981|Fd|||Hypocalciuric hypercalcemia, type II (2)| | ||
19.58|3|23|09|19p13.3|HMHA1, HLA-HA1, KIAA0223|C|Minor histocompatibility antigen HA-1||601155|R, REc|||| | ||
19.59|1|8|01|19p13.3|HMG20B, BRAF35|P|High mobility group protein 20B||605535|REc|||| | ||
19.60|11|3|06|19q13.32|IGFL1|P|IGF-like family member 1||610544|REc|||| | |7(Igfl1)|
19.61|11|3|06|19q13.32|IGFL2|P|IGF-like family member 2||610545|REc|||| | |7(Igfl2)|
19.62|11|3|06|19q13.32|IGFL3|P|IGF-like family member 3||610546|REc|||| | |7(Igfl3)|
19.63|11|3|06|19q13.32|IGFL4|P|IGF-like family member 4||610547|REc|||| | |7(Igfl4)|
19.64|7|20|12|19p13.3|KDM4B, JMJD2B, KIAA0876|C|Lysine-specific demethylase 4B||609765|R, REc|||| | ||
19.65|7|19|12|19p13.3|JSRP1, JP45|P|Junctional sarcoplasmic reticulum protein 1||608743|REc|||| | ||
19.66|4|20|06|19p13.3|KHSRP, KSRP, FUBP2, FBP2|P|KH-type splicing regulatory protein||603445|R, H|||| | |17(Khsrp)|
19.67|8|24|09|19p13.3|KIR2DL5A, KIR2DL5|P|Killer cell immunoglobulin-like receptor, two domains, long|cytoplasmic tail, 5A|605305|REc|||| | ||
19.68|8|1|13|19p13.3|KISS1R, GPR54 , HH8, CPPB1|C|KISS1 receptor||604161|REc, Fd|||Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3);|Precocious puberty, central, 1, 176400 (3) | ||
19.69|7|18|06|19p13.3|LMNB2, LMN2|P|Lamin B2||150341|A|||{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)| | ||
19.70|7|11|11|19p13.3|LPPR3, LPR3, PRG2|P|Lipid phosphate phosphatase-related 3||610391|REc|||| | ||
19.71|12|10|13|19p13.3|LRG1, LRG|P|Leucine-rich alpha-2-glycoprotein 1||611289|REc|||| | |11(Lrg1)|
19.72|12|23|05|19p13.3|LRRN6B, LINGO3, LERN2|P|Leucine-rich repeat protein, neuronal, 6B||609792|R, REc|||| | ||
19.73|8|24|09|19p13.3|LSM7|P|LSM7 protein||607287|R, REc|||| | ||
19.74|9|21|11|19p13.2|ICAM4, CD242, LW|C|Intracellular adhesion molecule 4||614088|F, Fd, A, REc|close to C3, LU||[Blood group, Landsteiner-Wiener], 111250 (3)| | ||
19.75|3|3|98|19p13.3|MACAM1|C|Mucosal addressin cell adhesion molecule-1||102670|Psh, A|||| | ||
19.76|6|20|13|19p13.3|MAP2K2, PRKMK2, MEK2, MKK2, CFC4|P|Mitogen-activated protein kinase kinase 2||601263|A, REc|previously assigned to 7q32||Cardiofaciocutaneous syndrome 4, 615280 (3)| | |10(Mek2)|
19.77|7|1|98|19p13.3|MATK, HYL, CTK|P|Megakaryocyte-associated tyrosine kinase||600038|A, REa, H|||| | |10(Matk)|
19.78|7|8|99|19p13.3|MBD3|P|Methyl-CpG-binding domain protein 3||603573|REc|||| | |10(Mbd3)|
19.79|6|19|97|19p13.3|MDRV|P|Muscular dystrophy with rimmed vacuoles||601846|Fd|||Muscular dystrophy with rimmed vacuoles (2)| | ||
19.80|8|20|07|19p13.3|MEX3D, RKHD1, TINO, KIAA2031|P|Mex-3, C. elegans, homolog of, D||611009|REc|||| | ||
19.81|8|24|09|19p13.3|MIDN|P|Midnolin, mouse, homolog of||606700|REc|||| | ||
19.82|5|11|09|19p13.13|MIR181C, MIRN181C|P|Micro RNA 181C||612746|REc|||| | ||
19.83|5|6|13|19p13.3|MIR1909|P|Micro RNA 1909||615201|REc|||| | ||
19.84|6|26|13|19p13.3|MISP, C19orf21|P|Mitotic spindle-positioning protein||615289|REc|||| | ||
19.85|5|28|02|19p13.3|MKNK2, MNK2, GPRK7|P|Mitogen-activated protein kinase-interacting serine/threonine kinase-2||605069|REc|||| | ||
19.86|1|12|95|19p13.3|MLLT1, ENL|C|Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 1||159556|Ch|fuses with ALL1||| | ||
19.87|3|11|08|19p13.3|MRPL54|P|Mitochondrial ribosomal protein L54||611858|R, REc|||| | ||
19.88|4|30|09|19p13.3|NDUFA11|P|NADH-dehydrogenase 1 alpha subcomplex, 11||612638|REc|||Mitochondrial complex I deficiency, 252010 (3)| | ||
19.89|10|15|95|19p13.3|NFIC|P|Nuclear factor I/C (CCAAT-binding transcription factor)||600729|A|order: cen-NFIX-NFIC-tel||| | |10(Nfic)|
19.90|9|2|12|19p13.2|NFIX, NF1A, SOTOS2, MRSHSS|C|Nuclear factor I/X (CCAAT-binding transcription factor)||164005|A|||Sotos syndrome 2, 614753 (3); Marshall-Smith syndrome, 602535 (3)| | |8(Nfix)|
19.91|1|2|08|19p13.3|NRTN, NTN|P|Neurturin||602018|A|||| | |17(Nrtn)|
19.92|8|28|97|19p13.3|OAZ1|P|Ornithine decarboxylase antizyme 1||601579|A|||| | ||
19.93|8|24|09|19p13.3|PCSK4|P|Proprotein convertase subtilisin/kexin type 4||600487|REa, REc|||| | |10(Pcsk4)|
19.94|2|27|03|19p13.2|PEX11G|P|Peroxisome biogenesis factor 11G||607583|REc|||| | ||
19.95|8|23|07|19p13.3|PIP5K1C, LCCS3|P|Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma||606102|R,|||Lethal congenital contractural syndrome 3, 611369 (3)| | ||
19.96|1|21|10|19p13.3|PLIN3, M6PRBP1, TIP47|P|Perilipin 3||602702|REc|||| | ||
19.97|3|3|10|19p13.3|PLIN4, KIAA1881|P|Perilipin 4||613247|R, REc|||| | ||
19.98|3|3|10|19p13.3|PLIN5, LSDP5|P|Perilipin 5||613248|REc|||| | |17(Plin5)|
19.99|4|27|12|19p13.2|PNPLA6, NTE, SPG39, NTEMND|C|Patatin-like phospholipase domain-containing protein 6||603197|REc, A, Fd|||Spastic paraplegia 39, autosomal recessive, 612020 (3)| | |8(Nte)|
19.100|5|27|94|19p13.3|POLR2E|P|Polymerase (RNA) II (DNA directed) polypeptide E, 25kD||180664|A|||| | ||
19.101|8|3|97|19p13.3|POLRMT, APOLMT|P|Polymerase (RNA) mitochondrial (DNA directed)||601778|Psh|||| | ||
19.102|1|24|93|19p13.3|PRTN3, AGP7|C|Proteinase-3 (serine proteinase, neutrophil, Wegener granulomatosis|autoantigen)|177020|A, REn, Psh|||| | |10(Prtn3)|
19.103|7|24|13|19p13.3|ONECUT3, OC3|P|One cut homeobox 3||611294|REc, R|||| | |10(Onecut3)|
19.104|7|8|99|19p13.3|PSPN|P|Persephin||602921|Psh, R|||| | ||
19.105|1|28|01|19p13.3|PTBP1, PTB, HNRNPI|P|Polypyrimidine tract-binding protein 1||600693|REc|pseudogene on chr. 14||| | ||
19.106|8|28|97|19p13.3|PTPRS|P|Protein tyrosine phosphatase, receptor type, sigma||601576|A, REc|||| | |17(Ptprs)|
19.107|12|15|98|19p13.3|RANBP3|P|RAN-binding protein-3||603327|REc|||| | ||
19.108|3|24|11|19p13.3|RAXL1, QRX, CORD11, ARMD6|C|Retina and anterior neural fold homeobox-like 1||610362|R|||Macular degeneration, age-related, 6, 613757 (3); Cone-rod dystrophy|11, 610381 (3) | ||
19.109|7|1|05|19p13.3|REEP6, DP1L1, TB2L1, C19orf32|P|Receptor expression-enhancing protein 6||609346|R, REc, H|||| | |10(Dp1L1)|
19.110|10|4|05|19p13.3|REXO1, REX1, ELOABP1, TCEB3BP1|P|RNA exonuclease 1, S. cerevisiae, homolog of||609614|R, REc|||| | ||
19.111|4|18|02|19p13.12|RLN3, H3, RXN3|P|Relaxin 3||606855|REc|||| | |8(Rln3)|
19.112|4|17|13|19p13.3|RNF126|P|RING finger protein 126||615177|REc|||| | ||
19.113|9|18|08|19p13.3|S1PR4, EDG6, S1P4|P|Sphingosine-1-phosphate receptor 4||603751|Psh|||| | ||
19.114|8|29|03|19p13.3|SAFB2, KIAA0138|P|Scaffold attachment factor B2||608066|REc|||| | ||
19.115|9|16|12|19p13.3|SEMA6B|P|Semaphorin 6B||608873|REc|||| | ||
19.116|3|24|11|19p13.3|SCAMP4|P|Secretory carrier membrane protein 4||613764|REc|||| | ||
19.117|7|7|13|19p13.3|SHC2, SHCB, SCK|P|SHC transforming protein 2||605217|REc|||| | ||
19.118|3|1|01|19p13.3|SH3GL1, EEN|C|SH3 domain GRB2-like 1 (Extra 11-19 leukemia fusion gene)||601768|A, R, REa|||Leukemia, acute myeloid, 601626 (1)| | ||
19.119|8|30|01|19p13.3|SIRT6, SIR2L6|P|Sirtuin 6 (Sir2, S. cerevisiae, homolog of, 6)||606211|REc|||| | ||
19.120|3|12|07|19p13.3|SLC25A41|P|Solute carrier family 25, member 41||610822|REc|||| | |17(Slc25a41)|
19.121|10|13|09|19p13.3|SLC39A3, ZIP3|P|Solute carrier family 39, zinc transporter, member 3||612168|R, REc|||| | ||
19.122|3|22|07|19p13.3|SNPPL2B, IMP4, KIAA1532|P|Signal peptide peptidase-like 2B||608239|R, REc|||| | ||
19.123|4|12|13|19p13.3|STK11, PJS, LKB1|C|Serine/threonine protein kinase-11||602216|Fd, D, REc|||Peutz-Jeghers syndrome, 175200 (3); Melanoma, malignant, somatic (3);|Pancreatic cancer, 260350 (3); Testicular tumor, somatic, 273300 (3) | |10(Stk11)|
19.124|9|15|11|19p13.3|TBXA2R, BDPLT13|C|Thromboxane A2 receptor||188070|Psh, Fd, A, H|||{Bleeding disorder, platelet-type, 13, susceptibility to}, 614009|(3) | |10(Tbxa2r)|
19.125|4|25|93|19p13.3|TCF3, E2A|C|Transcription factor-3 (E2A immunoglobulin enhancer-binding|factors E12/E47)|147141|REa, A|||Leukemia, acute lymphoblastic (1)| | ||
19.126|12|11|98|19p13.3|THOP1|C|Thimet oligopeptidase-1||601117|REa, A, REc|||| | ||
19.127|10|25|12|19p13.3|TICAM1, TRIF, IIAE6|P|TIR domain-containing adaptor molecule 1||607601|REc|||{Encephalopathy, acute, infection-induced, susceptibility to, 6},|614850 (3) | ||
19.128|12|4|02|19p13.3|TIMM13|C|Translocase of inner mitochondrial membrane 13, yeast, homolog of||607383|R|||| | ||
19.129|5|23|13|19p13.3|TINCR|P|Terminal differentiation-induced noncoding RNA||615241|REc|||| | |17(Tincr)|
19.130|3|31|09|19p13.3|TJP3, ZO3|P|Tight junction protein 3||612689|REc|||| | ||
19.131|2|11|96|19p13.3|TLE2, ESG2|P|Transducin-like enhancer of split 2 (homolog of Drosophila E(spl))||601041|A|||| | ||
19.132|12|18|08|19p13.3|TLE6, GRG6|P|Transducin-like enhancer of split 6||612399|REc|||| | ||
19.133|7|13|12|19p13.3|TMIGD2, IGPR1|P|Transmembrane and immunoglobulin domains-containing protein 2|`|614715|REc|||| | ||
19.134|8|30|01|19p13.3|TNFSF9|P|Tumor necrosis factor ligand superfamily, member 9||606182|A|||| | ||
19.135|1|18|02|19p13.3|TNFSF14, HVEML|P|Tumor necrosis factor ligand superfamily, member 14||604520|REc, A|||| | ||
19.136|12|17|07|19p13.2|TRMT1, TRM1|P|tRNA methyltransferase 1, S. cerevisiae, homolog of||611669|REc|||| | ||
19.137|7|22|13|19p13.3|TRNAG3|P|Transfer RNA glycine 3||615303|REc|||| | ||
19.138|7|22|13|19p13.3|TRNAV32|P|Transfer RNA valine 32||615304|REc|||| | ||
19.139|7|1|13|19p13.3|TUBB4A, TUBB4, TUBB5, DYT4, HLD6|P|Tubulin, beta-4A||602662|REc|||Dystonia 4, torsion, autosomal dominant, 128101 (3);|Leukodystrophy, hypomyelinating, 6, 612438 (3) | ||
19.140|10|27|08|19p13.3|UHRF1, ICBP90, NP95|P|Ubiquitin-like protein containing PHD and RING finger domains 1||607990|A|||| | ||
19.141|10|9|09|19p13.11|UNC13A, KIAA1032|P|UNC13, C. elegans, homolog of, A||609894|R, REc|||| | ||
19.142|11|15|05|19p13.3|UQCR|P|Ubiquinol-cytochrome c reductase, 6.4kD subunit||609711|R, REc|||| | ||
19.143|8||13|19p13.3|ZBTB7A, FBI1, LRF|P|Zinc finger and BTB domain containing 7A||605878|A|||| | ||
19.144|6|10|08|19p13.3|ZNRF4, SPERIZIN|P|Zinc finger and ring finger protein 4||612063|Psh, H|||| | |17(Znrf4)|
19.145|11|2|04|19p13.2|ADAMTS10, WMS1|C|A disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 10|608990|Fd, REc|||Weill-Marchesani syndrome 1, recessive, 277600 (3)| | ||
19.146|12|13|95|19p13.3|AMH, MIF|P|Anti-Mullerian hormone||600957|REa, A|||Persistent Mullerian duct syndrome, type I, 261550 (3)| | |10(Amh)|
19.147|3|15|92|19p13.3-p13.2|ATHS, ALP|P|Atherosclerosis susceptibility (lipoprotein associated)||108725|Fd|closely linked to LDLR; may be LDLR||{Atherosclerosis, susceptibility to} (2)| | ||
19.148|3|10|11|19p13.3|C3, ARMD9, AHUS5|C|Complement component-3||120700|F, S, A, REa|LE ~7cM in males vs. C3 RFLP||C3 deficiency, 613779 (3);|{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3); {Macular degeneration, age-related, 9}, 611378 (3)| |17(C3)|
19.149|7|2|13|19p13.2|DNMT1, MCMT, HSN1E, ADCADN|C|DNA methyltransferase 1||126375|REa, A|||Neuropathy, hereditary sensory, type IE, 614116 (3); Cerebellar|ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3) | ||
19.150|3|23|93|19p13.2|EPOR|C|Erythropoietin receptor||133171|A, REa, H, Fd|||[Erythrocytosis, familial, 1], 133100 (3)| | |9(Epor)|
19.151|4|5|00|19p13.2|ICAM1|C|Intercellular adhesion molecule-1||147840|REa, H, A|close to Ldlr in mouse||{Malaria, cerebral, susceptibility to}, 611162 (3)| | |9(Icam1)|
19.152|6|13|95|19p13.2|ICAM3, CDW50|P|Intercellular adhesion molecule-3||146631|A, Psh|||| | ||
19.153|9|7|00|19p13.2|MCOLN1, ML4|C|Mucolipin 1||605248|Fd, REn|||Mucolipidosis IV, 252650 (3)| | ||
19.154|11|12|96|19p13.2|MYO1F|P|Myosin IF||601480|A|||| | |17(Myo1f)|
19.155|5|15|00|19p13.2|HNRPM, HNRPM4, NAGR1|P|Heterogeneous nuclear ribonucleoprotein M||160994|A|||| | ||
19.156|8|21|92|19p13.3|RFX2|P|Regulatory factor (trans-acting) 2 (influences HLA class II|expression)|142765|A|||| | ||
19.157|8|24|98|19p13.3|SAFB, HET|P|Scaffold attachment factor B||602895|REa, A|||| | ||
19.158|3|29|00|19p13.3|SF3A2, SAP62, PRP11|P|Splicing factor 3a, subunit 2, 66kD||600796|REn|||| | |10(Sap62)|
19.159|5|4|12|19p13.2|STXBP2, UNC18B, FHL5|P|Syntaxin binding protein 2||601717|A|||Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)| | |8(Stxbp2)|
19.160|7|6|00|19p13.2|TIMM44|P|Translocase of inner mitochondrial membrane 44, yeast, homolog of||605058|A|||| | ||
19.161|8|24|98|19p13.3|VAV1, VAV|C|Oncogene VAV1||164875|REa, A, RE|close to INSR||| | ||
19.162|9|28|96|19p13.11|ZNF14, KOX6|P|Zinc finger protein-14 (KOX 6)||194556|REc, A|||| | ||
19.163|9|28|96|19p13.2|ZNF20, KOX13|P|Zinc finger protein-14 (KOX 6)||194557|REc, A|||| | ||
19.164|6|11|11|19p13.2|ACP5, SPENCDI|C|Acid phosphatase 5, tartrate resistant||171640|REa, H, Psh|incorrectly assigned to 15 by A||Spondyloenchondrodysplasia with immune dysregulation, 607944 (3)| | |9(Acp5)|
19.165|9|22|04|19p13.2|AD9|P|Alzheimer disease 9||608907|Fd|||{Alzheimer disease 9, late onset, susceptibility to}, 104300 (2)| | ||
19.166|7|1|05|19p13.2|ANGPTL6, AGF|P|Angiopoietin-like 6||609336|REc|||| | ||
19.167|2|28|03|19p13.2|AP1M2, MU1B|C|Adaptor-related protein complex 1, mu-2 subunit||607309|A, H|||| | |9(Ap1m2)|
19.168|6|8|95|19p13.11|BST2|P|Bone marrow stromal cell antigen||600534|A|||| | ||
19.169|8|21|91|19p13.2|CALR, SSA|P|Sicca syndrome antigen A (autoantigen Ro; calreticulin)||109091|REa|distal to C3, near LDLR||| | |8(Calr)|
19.170|7|7|13|19p13.2|CARM1, PRMT4|P|Coactivator-associated arginine methyltransferase 1||603934|REc|||| | ||
19.171|8|2|13|19p13.2|CERS4, LASS4, TRH1|P|Ceramide synthase 4||615334|REc|||| | ||
19.172|8|29|02|19p13.2|CCL25, SCYA25, TECK|C|Chemokine, C-C motif, ligand 25||602565|Psh, R, A|||| | |8(Teck)|
19.173|11|22|10|19p13.2|CD320, 8D6, 8D6A, TCBLR|P|CD320 molecule||606475|R, REc|||Methylmalonic aciduria due to transcobalamin receptor defect,|613646 (3) | |17(Cd320)|
19.174|3|16|99|19p13.2|CNN1, SMCC|C|Calponin 1||600806|A, R, Psh|||| | |9(Cnn1)|
19.175|8|9|01|19p13.2|COL5A3|P|Collagen, type V, alpha-3 polypeptide||120216|R|||| | |9(Col5a3)|
19.176|9|22|08|19p13.2|CTXN1, CTXN|P|Cortexin 1||600135|REc|||| | |8(Ctxn)|
19.177|9|30|99|19p13.12|CYP4F3, LTB4H|P|Cytochrome P450, subfamily IVF, polypeptide 3||601270|A|||| | ||
19.178|5|24|13|19p13.2|DFNB68|P|Deafness, autosomal recessive 68||610419|Fd|between D19S586 adn D19S584||Deafness, autosomal recessive 68 (2)| | ||
19.179|3|12|01|19p13.12|DNAJB1, HSPF1|P|DnaJ, E. coli, homolog of, subfamily B, member 1|(heat-shock 40kD protein 1)|604572|A|||| | ||
19.180|8|19|13|19p13.2|DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5|C|Dynamin-2||602378|H, REc, Fd|1 LCCS5 family identified with mutation||Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3);|Myopathy, centronuclear, 160150 (3); Charcot-Marie-Tooth disease, axonal, type 2M, 606482 (3); Lethal congenital contracture syndrome 5, 615368 (3)| |9(Dnm2)|
19.181|9|12|11|19p13.2|DOCK6, KIAA1395, AOS2|P|Dedicator of cytokinesis 6||614194|REc, R|||Adams-Oliver syndrome 2, 614219 (3)| | ||
19.182|10|3|07|19p13.2|EIF3G, EIF3S4|P|Eukaryotic translation initiation factor 3, subunit G||603913|REc|||| | ||
19.183|2|8|99|19p13.2|ELAVL1, HUR|P|Embryonic lethal, abnormal vision, Drosophila, homolog-like 1||603466|A|||| | ||
19.184|7|8|99|19p13.2|ELAVL3, HUC, PLE21|P|Embryonic lethal, abnormal vision, Drosophila, homolog-like 3||603458|A, H, R|centromeric to ELAVL1||| | |9(HuC)|
19.185|6|13|12|19p13.2|FBXL12, FBL12|P|F-box and leucine-rich repeat protein 12||609079|REc, REa|||| | |9(Fbxl12)|
19.186|6|13|12|19p13.2|FBXW9, FBW9|P|F-box and WD40 domain protein 9||609074|REc|||| | |9(Fbxw9)|
19.187|4|27|12|19p13.2|FDX1L, FDX2|P|Ferredoxin 1-like protein||614585|REc|||| | ||
19.188|8|25|04|19p13.2|GCDH|C|Glutaryl-Coenzyme A dehydrogenase||608801|REa, A|||Glutaricaciduria, type I, 231670 (3)| | |8(Gcdh)|
19.189|3|14|13|19p13.2|MRI1, MRDI|P|Methylthioribose-1-phosphate isomerase, S. cerevisiae, homolog of||615105|REc|||| | ||
19.190|8|21|12|19p13.2|PET100, C19orf79|P|PET100, S. cerevisiae, homolog of||614770|REc|||| | ||
19.191|10|2|12|19p13.2|PRDX2, PRX2, TDPX1, PTX1, NKEFB|P|Peroxiredoxin 2||600538|REc|prev. mapped to chr.13||| | ||
19.192|7|8|02|19p13.2|RAD3D, GOV|P|Ras family, member RAB3D||604350|A|||| | ||
19.193|5|25|00|19p13.2|ICAM5, TLCN, TLN|C|Intercellular adhesion molecule 5 (telencephalin)||601852|A|||| | ||
19.194|9|14|12|19p13.11|INSL3|P|Insulin-like 3, Leydig cell||146738|A|||Cryptorchidism, 219050 (3)| | ||
19.195|12|29|06|19p13.2|INSR, HHF5|C|Insulin receptor||147670|REa, A, REb|1 gene for alpha and beta subunits||Leprechaunism, 246200 (3); Rabson-Mendenhall syndrome, 262190 (3);|Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3); Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)| |8(Insr)|
19.196|4|25|93|19p13.2|JUNB|C|jun B proto-oncogene||165161|A|||| | |8(Junb)|
19.197|5|4|12|19p13.2|KANK2, ANKRD25, KIAA1518|P|KN motif- and ankyrin repeat domain-containing protein 2||614610|REc|||| | ||
19.198|5|4|12|19p13.2|KANK3|P|KN motif- and ankyrin repeat domain-containing protein 3||614611|REc|||| | ||
19.199|1|16|07|19p13.2|KEAP1, KIAA0132|P|Kelch-like ECH-associated protein 1||606016|REa, REc|||| | ||
19.200|2|24|12|19p13.2|LDLR, FHC, FH, LDLCQ2|C|Low density lipoprotein receptor||606945|F, REa, A|~20cM distal to C3||Hypercholesterolemia, familial, 143890 (3); LDL cholesterol|level QTL2, 143890 (3) | |9(Ldlr)|
19.201|7|22|09|19p13.2|LRRC8E|P|Leucine-rich repeat-containing protein 8E||612891|REc|||| | |8(Lrrc8e)|
19.202|6|7|10|19p13.2|MARCH2|P|Membrane-associated RING-CH finger protein 2||613332|REc|||| | ||
19.203|9|24|08|19p13.2|MAST1, SAST, KIAA0973|P|Microtubule-associated serine/threonine kinase 1||612256|R, REc|||| | ||
19.204|3|23|09|19p13.2|MIR199A1, MIRN199A1|P|Micro RNA 199A1||610719|REc|||| | ||
19.205|2|26|08|19p13.2|MRPL4|P|Mitochondrial ribosomal protein L4||611823|R|||| | ||
19.206|8|3|12|19p13.2|MUC16, CA125|P|Mucin 16||606154|REc|||| | ||
19.207|12|3|98|19p13.2|NDUFA7|C|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)||602139|R|previously assigned to 20p13||| | ||
19.208|3|23|09|19p13.2|NEZHA, KIAA1543|P|Nezha||612685|REc|||| | ||
19.209|9|12|11|19p13.2|NRCLP6|P|Narcolepsy 6||614223|Fd|associated with rs2305795||Narcolepsy 6 (2)| | ||
19.210|8|20|08|19p13.2|OR7D4, OR19B|P|Olfactory receptor, family 7, subfamily D, member 4||611538|REc|||| | ||
19.211|4|20|11|19p13.2|PCOS1, PCO1, PCO|P|Polycystic ovary syndrome 1||184700|Fd|max lod at D19S884||Polycystic ovary syndrome 1 (2)| | ||
19.212|8|21|98|19p13.2|PDE4A, DPDE2|C|Phosphodiesterase-4A, cAMP-specific (dunce, Drosophila, homolog|phosphodiesterase E2)|600126|REa, A, REc|||| | |9(Pde4a)|
19.213|5|25|00|19p13.11|PGLS|P|6-phosphogluconolactonase||604951|R|||| | ||
19.214|3|25|03|19p13.11|PLVAP, PV1|P|Plasmalemma vesicle-associated protein||607647|REc, R, H|||| | |8(Plvap)|
19.215|1|30|01|19p13.3|PRSS15, LON|P|Protease, serine, 15||605490|A|||| | ||
19.216|10|4|05|19p13.2|QTRT1, TGT|P|Queuine tRNA-ribosyltransferase 1||609615|REc|||| | ||
19.217|1|12|95|19p13.2|RAD23A, HHR23A|P|RAD23, S. cerevisiae, homolog of, A||600061|A|||| | |8(Rad23a)|
19.218|3|14|06|19p13.2|RAVER1, KIAA1978|P|Raver1, mouse, homolog of||609950|R, REc|||| | ||
19.219|9|22|04|19p13.2|RETN, RSTN, FIZZ3|C|Resistin||605565|REc|||{Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853|(3); {Hypertension, insulin resistance-related, susceptibility to}, 125853 (3) | ||
19.220|2|7|01|19p13.2|RPS28|P|Ribosomal protein S28||603685|REa, R|||| | ||
19.221|9|18|08|19p13.2|S1PR2, EDG5|P|Sphingosine-1-phosphate receptor 2||605111|REc|||| | ||
19.222|9|18|08|19p13.2|S1PR5, EDG8|P|Sphingosine-1-phosphate receptor 5||605146|REc|||| | ||
19.223|1|27|04|19p13.2|SITPEC, ECSIT|P|Signaling intermediate in toll pathway, evolutionarily conserved||608388|R, REc|||| | ||
19.224|5|4|12|19p13.2|SMARCA4, BRG1, RTPS2, MRD16|P|SWI/SNF-related, matrix-associated, actin-dependent regulator of|chromatin, subfamily A, member 4|603254|REc|||Rhabdoid tumor predisposition syndrome 2, 613325 (3); Mental|retardation, autosomal dominant 16, 614609 (3) | ||
19.225|10|2|12|19p13.2|SNAPC2, SNAP45|P|Small nuclear RNA-activating protein complex, polypeptide 2||605076|REc|||| | ||
19.226|3|30|12|19p13.2|SWSAP1, ZSWIM7AP1, C19orf39|P|SWIM-type zinc finger domain-containing protein 7-associated protein 1||614536|REc|||| | ||
19.227|3|29|99|19p13.2|TCO|P|Thyroid carcinoma, nonmedullary, with cell oxyphilia||603386|Fd|||Thyroid carcinoma, nonmedullary, with cell oxyphilia (2)| | ||
19.228|5|23|06|19p13.2|TMED1, IL1RL1LG|P|Transmembrane EMP24 transport domain-containing protein 1|(interleukin-1 receptor-like 1 ligand)|605395|A|||| | ||
19.229|2|24|11|19p13.2|TMEM205|P|Transmembrane protein 205||613771|REc|||| | ||
19.230|12|21|09|19p13.2|TYK2|C|Tyrosine kinase-2||176941|REa, A|||Tyrosine kinase 2 deficiency, 611521 (3)| | ||
19.231|4|10|97|19q13.12|U2AF1RS3|P|U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 3||601080|A|||| | ||
19.232|4|16|02|19p13.2|UBL5, HUB1|P|Ubiquitin-like 5||606849|REc|pseudogene on 17p11.2||| | ||
19.233|3|15|07|19p13.2|XAB2|P|XPA-binding protein 2||610850|REc|||| | ||
19.234|2|20|02|19p13.2|ZK1|P|Zinc finger protein ZK1||606697|A, R|||| | ||
19.235|1|13|11|19p13.2|ZNF44, KOX7|P|Zinc finger protein-44 (KOX7)||194542|REc|previously assigned to 16p11||| | ||
19.236|1|13|11|19p13.2|ZNF69|P|Zinc finger protein-69 (Cos5)||194543|REc|previously assigned to 22q11.2||| | ||
19.237|8|24|09|19p13.2|ZNF266, HZF1|P|Zinc finger protein-266||604751|R, REc|||| | ||
19.238|9|24|08|19p13.2|ZNF627|P|Zinc finger protein 627||612248|REc|||| | ||
19.239|12|16|11|19p13.2|ZGLP1, GLP1|P|Zinc finger GATA-like protein 1||611639|REc|||| | ||
19.240|6|13|12|19p13.2|DAND5, CER2, CERL2, DANTE, COCO|P|DAN domain family, member 5||609068|REc|||| | |8(Crl2)|
19.241|3|2|11|19p13.11|UPF1, RENT1, HUPF1|P|Upf1, yeast, homolog of||601430|REa|||| | |9(Rent1)|
19.242|4|25|96|19p13.12|CD97|P|CD97 antigen||601211|REa|||| | ||
19.243|9|8|06|19p13.2|BEST2, VMD2L1|P|Bestrophin 2||607335|A|||| | ||
19.244|6|19|00|19p13.2|ZNF136|P|Zinc finger protein-136||604078|A|||| | ||
19.245|8|25|04|19p13.11|GDF15, PLAB, PDF, MIC1|P|Growth/differentiation factor-15|(bone morphogenetic protein, placental)|605312|A|||| | ||
19.246|4|25|93|19p13.2|LYL1|C|Lymphoblastic leukemia derived sequence-1||151440|Ch, A|||Leukemia, T-cell acute lymphoblastoid (2)| | |8(Lyl1)|
19.247|6|9|08|19p13.11|NDUFA13, GRIM19|P|NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 13||609435|A|||{Thyroid carcinoma, Hurthle cell}, 607464 (3)| | ||
19.248|7|12|13|19p13.12|NOTCH3, CADASIL, CASIL, IMF2|C|Notch, Drosophila, homolog of, 3||600276|REa, A, Fd|||Cerebral arteriopathy with subcortical infarcts and|leukoencephalopathy, 125310 (3); ?Myofibromatosis, infantile 2, 615293 (3) | |17(Notch3)|
19.249|2|28|03|19p13.2-p13.1|PAPA3|P|Polydactyly, postaxial, type A3||607324|Fd|between D19S1165 and D19S929||Polydactyly, postaxial, type A3 (2)| | ||
19.250|2|21|03|19p13.2|PRKCSH, G19P1, PCLD|C|Protein kinase C substrate 80K-H||177060|REb, Fd|||Polycystic liver disease, 174050 (3)| | ||
19.251|11|26|09|19p13.11|LRRC25, MAPA|P|Leucine rich repeat containing 25||607518|REc, R|||| | ||
19.252|9|29|09|19p13.11|SLC5A5, NIS, TDH1|P|Solute carrier family 5 (sodium iodide symporter), member-5||601843|A|||Thyroid dyshormonogenesis 1, 274400 (3)| | ||
19.253|3|14|06|19p13.12|RAB8A, MEL|C|Ras-associated protein RAB8A (oncogene MEL)||165040|REa, Fd|||| | ||
19.254|10|27|93|19p13.2-q13.3|LPSA, D19S381E|P|Oncogene liposarcoma (DNA segment, single copy, expressed, probes|MC15, MC6)|164953|A|||Liposarcoma (1)| | ||
19.255|5|29|97|19p13.2|DNASE2, DNL|P|Deoxyribonuclease II, lysosomal||126350|S|||| | ||
19.256|2|3|05|19p13.12|ASF1B|P|Anti-silencing function 1, S. cerevisiae, homolog of, B||609190|REc|||| | ||
19.257|11|17|10|19p13.13|DEL19p13.13, C19DELp13.13, DUP19p13.13, C19DUPp13.13|P|Chromosome 19p13.13 deletion syndrome (Chromosome 19p13.13 duplication|syndrome)|613638|Ch|contiguous gene syndrome||Chromosome 19p13.13 deletion syndrome (4); Chromosome 19p13.13|duplication syndrome (4) | ||
19.258|7|10|08|19p13.2|GADD45GIP1, PRG6|P|Growth arrest- and DNA damage-inducible DABB45G-interacting protein||605162|R, REc|||| | ||
19.259|7|7|09|19p13.2|HOOK2, HK2|P|Hook, Drosophila, homolog of, 2||607824|REc|||| | ||
19.260|8|24|09|19p13.13|MIR23A, MIRN23A|P|Micro RNA 23a||607962|REc|||| | ||
19.261|9|16|13|19p13.13|NANOS3, NOS3|P|Nanos, Drosophila, homolog of, 3||608229|REc|||| | ||
19.262|10|15|07|19p13.2|RNASEH2A, RNHIA, AGS4|C|Ribonuclease H2, large subunit||606034|R, REc|||Aicardi-Goutieres syndrome 4, 610333 (3)| | ||
19.263|5|27|09|19p13.2|SYCE2, CESC1|P|Synaptonemal complex central element protein 2||611487|REc|||| | ||
19.264|4|19|06|19p13.2|TNPO2, TRN2, KPNB2B|P|Transportin 2||603002|R|||| | ||
19.265|12|21|10|19p13.2|KLF1, EKLF, INLU, HBFQTL6|P|Kruppel-like factor 1, erythroid||600599|A|||Blood group--Lutheran inhibitor, 111150 (3); [Hereditary|persistence of fetal hemoglobin], 613566 (3); Anemia, dyserythropoietic congenital, type IV, 613673 (3)| ||
19.266|8|24|09|19p13.11|AP1M1, AP47, CLAPM2|P|Adaptor-related protein complex 1, mu 1 subunit||603535|REa|||| | ||
19.267|4|11|11|19p13.11|CALR3, CRT2, CMH19|P|Calreticulin 3||611414|REc|||Cardiomyopathy, familial hypertrophic, 19, 613875 (3)| | ||
19.268|5|2|06|19p13.12|CC2D1A, MRT3|P|Coiled-coil and C2 domain-containing 1A||610055|REc, Fd|||Mental retardation, autosomal recessive 3, 608443 (3)| | ||
19.269|1|18|13|19p13.12|CYP4F22, ARCI5, LI3|C|Cytochrome P450, family 4, subfamily F, polypeptide 22||611495|REc|||Ichthyosis, congenital, autosomal recessive 5, 604777 (3)| | ||
19.270|4|2|12|19p13.12-p13.11|FAM32A, OTAG12|P|Family with sequence similarity 32, member A||614554|REc|||| | |8(Fam32a)|
19.271|3|23|09|19p13.13|MIR24-2, MIRN24-2|P|Micro RNA 24-2||610724|REc|||| | ||
19.272|3|23|09|19p13.13|MIR27, MIRN27A|P|Micro RNA 27A||612153|REc|||| | ||
19.273|10|29|03|19p13.12|PGRPL|P|Peptidoglycan recognition protein, long||608199|REc|||| | ||
19.274|6|2|11|19p13.12|TECR, GPSN2, TER, SC2, MRT14|P|Trans-2,3-enoyl-CoA reductase||610057|R, REc|||Mental retardation, autosomal recessive 14, 614020 (3)| | ||
19.275|9|23|96|19p13.2|DHPS|C|Deoxyhypusine synthase||600944|REa, A|||| | ||
19.276|6|15|99|19p13.12|NDUFB7|P|NADH-ubiquinone oxidoreductase 1 beta subcomplex, 7||603842|R|||| | ||
19.277|1|8|01|19p12|ZNF254, ZNF91L|P|Zinc finger protein-254||604768|R|||| | ||
19.278|3|24|06|19p13.11|BCNP1|P|B-cell novel protein 1||609967|R, REc|||| | ||
19.279|8|23|05|19p13.11|BPY2IP1, VCY2IP1, C19ORF5|P|BPY2-interacting protein 1|(VCY2-interacting protein 1)|607573|R, REc|||| | ||
19.280|5|12|09|19p13.11|C10orf62, MERIT40, NBA1|P|Chromosome 19 open reading frame 62||612766|REc|||| | ||
19.281|10|14|10|19p13.11|CILP2|P|Cartilage intermediate layer protein 2||612419|REc|||| | ||
19.282|8|24|09|19p13.11|COPE|P|Cotamer protein complex, subunit epsilon||606942|R, REc|||| | ||
19.283|9|16|12|19p13.11|CPAMD8, KIAA1283|P|Complement component 3- and pregnancy zone protein-like|alpha-2-macroglobin domain-containing protein 8|608841|REc|||| | ||
19.284|9|7|10|19p13.11|FCHO1|P|FCH domain-only protein 1||613437|REc|||| | ||
19.285|9|23|13|19p13.11|GTPBP3, MSS1|P|GTP-binding protein 3||608536|REc|||| | ||
19.286|9|7|10|19p13.11|HAUS8, DGT4, HICE1|P|HAUS augmin-like complex, subunit 8||613434|REc|||| | ||
19.287|7|9|06|19p13.11|HOMER3|P|Homer, homolog 3 (Drosophila)||604800|R, REc|||| | ||
19.288|6|22|10|19p13.11|IFI30, GILT|P|Interferon-gamma-inducible protein 30||604664|REc|||| | ||
19.289|4|17|13|19p13.11|KXD1, C10orf50|P|KXDL motif-containing protein 1||615178|REc|||| | ||
19.290|8|24|09|19p13.11|LSM4|P|LSM4 protein||607284|R, REc|||| | ||
19.291|9|24|08|19p13.11|MAST3, KIAA0561|P|Microtubule-associated serine/threonine kinase 3||612258|R, REc|||| | ||
19.292|3|28|12|19p13.11|MAU2, SCC4, KIAA0892|P|MAU2 chromatid cohesion factor, C. elegans, homolog of||614560|REc|||| | ||
19.293|8|24|09|19p13.11|MED26, CRSP7, CRSP70|P|Mediator complex subunit 26||605043|R, REc|||| | ||
19.294|7|12|13|19p13.11|NXNL1, RDCVF, TXNL6, LOC115861|P|Nucleoredoxin-like protein 1||608791|REc, H|||| | |8(Nxnl1)|
19.295|1|10|07|19p13.11|PGPEP1, PCP, PGP|P|Pyroglutamyl peptidase I||610694|REc|||| | ||
19.296|1|11|07|19p13.11|SF4|P|Splicing factor 4||607992|REc|||| | ||
19.297|8|24|09|19p13.11|SIN3B, KIAA0700|P|Sin3, yeast, homolog of, B||607777|R, REc|||| | ||
19.298|3|12|07|19p13.11|SLC25A42|P|Solute carrier family 25, member 42||610823|REc|||| | |8(Slc25a42)|
19.299|1|11|07|19p13.11|SRFS14, KIAA0365|C|Splicing factor, arginine/serine-rich, 14||607993|R, REc|||| | ||
19.300|11|6|00|19p13.12|TCCR, WSX1|P|T-cell cytokine receptor||605350|Psh, R|||| | ||
19.301|11|24|08|19p13.11|TMEM16H, KIAA1623|C|Transmembrane protein 16H||610216|R, REc|||| | ||
19.302|1|23|07|19p13.11|TSSK6, SSTK, TSSK4|C|Testis-specific serine/threonine kinase 6||610712|REc|||| | |8(Tssk6)|
19.303|5|15|08|19p13.12|BRD4, CAP, HUNK1|P|Bromodomain-containing protein 4||608749|REc, A, H|fused with NUT||| | |17(Brd4)|
19.304|4|17|01|19p13.12|CASP14|P|Caspase 14, apoptosis-related cysteine protease||605848|REc|||| | ||
19.305|7|4|95|19p13.11|COMP, EDM1, MED, PSACH|P|Cartilage oligomeric matrix protein||600310|REa, A, Fd|||Pseudoachondroplasia, 177170 (3); Epiphyseal dysplasia, multiple 1,|132400 (3) | ||
19.306|8|20|08|19p13.12|CYP4F8|P|Cytochrome P450, family 4, subfamily F, polypeptide 8||611545|REc|||| | ||
19.307|10|13|09|19p13.12|CYP4F11|P|Cytochrome P450, family 4, subfamily F, polypeptide 11||611517|R, REc|||| | ||
19.308|12|3|07|19p13.12|CYP4F12|P|Cytochrome P450, family 4, subfamily F, polypeptide 12||611485|REc|||| | ||
19.309|4|23|96|19p13.11|ELL|C|ELL gene (11-19 lysine-rich leukemia gene)||600284|Ch, RE|||| | ||
19.310|5|28|98|19p13.11|IL12RB1|P|Interleukin-12 receptor, beta-1||601604|A|||{Mycobacterial and salmonella infections, susceptibility to}, 209950|(3) | ||
19.311|4|19|01|19p13.12|ILVBL, AHAS|P|IlvB-like (acetolactate synthase, bacterial, homolog of)||605770|REc|||| | ||
19.312|12|17|07|19p13.11|ISYNA1, IPS|P|Myoinositol 1-phosphate synthase A1||611670|REc|pseudogene on 4p15||| | ||
19.313|5|4|12|19p13.11|JAK3, JAKL|P|Janus kinase 3 (Janus kinase, leukocyte)||600173|A, Psh|||SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)| | ||
19.314|5|7|03|19p13.11|KLF2, LKLF|C|Kruppel-like factor 2||602016|R, REa, A|||| | ||
19.315|3|5|08|19p13.11|MRPL34|P|Mitochondrial ribosomal protein L34||611840|R, REc|||| | ||
19.316|12|7|05|19p13.11|MYO9B, MYR5, CELIAC4|P|Myosin IXB||602129|A, REc|||{Celiac disease, susceptibility to, 4}, 609753 (3)| | ||
19.317|8|24|09|19p13.11|NR2F6, ERBAL2, EAR2|P|Nuclear receptor subfamily 2, group F, member 6||132880|REb, REc|||| | ||
19.318|12|14|99|19p13.11|PDE4C, DPDE1|C|Phosphodiesterase-4C, cAMP-specific (dunce, Drosophila, homolog|phosphodiesterase E1)|600128|REa, A|between JUND (proximal) and RAB3A (distal)||| | |8(Pde4c)|
19.319|6|5|97|19p13.12|PRKACA|P|Protein kinase, cAMP-dependent, catalytic, alpha||601639|A|||| | ||
19.320|6|13|95|19p13.12|PTGER1|P|Prostaglandin E receptor 1, EP1 subtype, 42kD||176802|A|||| | ||
19.321|10|15|97|19p13.12|RFX1|C|Regulatory factor (trans-acting) 1 (influences HLA class II|expression)|600006|A|||| | ||
19.322|1|28|02|19p13.12|RGS19IP1, C19orf3, GIPC,|C|Regulator of G-protein signalling 19 interacting protein 1||605072|R, A|||| | ||
19.323|1|8|01|19p13.11|SLC27A1, FATP, FATP1|P|Solute carrier family 27, member 1||600691|A|||| | ||
19.324|4|24|09|19p13.2|SLC44A2, CTL2|P|Solute carrier family 44, member 2||606106|REc|||| | ||
19.325|12|4|02|19p13.11|SSBP4|P|Single-stranded DNA-binding protein 4||607391|REc|||| | ||
19.326|9|29|96|19p13.12|TPM4|P|Tropomyosin 4||600317|Psh, A|||| | ||
19.327|2|23|08|19p13.11|USHBP1, MCC2|P|USH1C-binding protein 1||611810|R, REc|||| | ||
19.328|2|23|08|19p13.12|ZNF333, KIAA1806|P|Zinc finger protein 333||611811|REc|||| | ||
19.329|4|25|93|19p13.11|JUND|C|jun D proto-oncogene||165162|A|||| | |8(Jund)|
19.330|4|25|93|19p13.11|RAB3A|C|RAS-associated protein RAB3A||179490|REb, A|||| | ||
19.331|6|19|00|19p12|ZNF43|P|Zinc finger protein-43||603972|A|||| | ||
19.332|3|20|94|19p13.11|UBA52|P|Ubiquitin A-52 residue ribosomal protein fusion product 1||191321|REa, A|||| | ||
19.333|6|19|00|19p12|ZNF90|P|Zinc finger protein-90||603973|A|||| | ||
19.334|6|19|00|19p12|ZNF91|P|Zinc finger protein-91||603971|A|||| | ||
19.335|8|10|99|19p12|ZNF85|P|Zinc finger protein-85||603899|Psh, A|||| | ||
19.336|6|19|00|19p12|ZNF93|P|Zinc finger protein-93||603975|A|||| | ||
19.337|6|19|00|19p13.1-p12|ZNF94|P|Zinc finger protein-94||603976|REc|||| | ||
19.338|6|6|00|19p12|ZNF100|P|Zinc finger protein-100||603982|A|||| | ||
19.339|6|6|00|19p13.11|ZNF101|P|Zinc finger protein-101||603983|A|||| | ||
19.340|6|6|00|19p13.1-p12|ZNF103|P|Zinc finger protein-103||603985|A|||| | ||
19.341|6|6|00|19p13.1-p12|ZNF105|P|Zinc finger protein-105||603987|A|||| | ||
19.342|6|6|00|19p13.1-p12|ZNF106|P|Zinc finger protein-106||603988|A|||| | ||
19.343|6|6|00|19p13.1-p12|ZNF109|P|Zinc finger protein-109||603991|A|||| | ||
19.344|6|6|00|19p13.1-p12|ZNF110|P|Zinc finger protein-110||603992|A|||| | ||
19.345|6|6|00|19p13.1-p12|ZNF111|P|Zinc finger protein-111||603993|A|||| | ||
19.346|6|6|00|19q13.31|ZNF112|P|Zinc finger protein-112||603994|A|||| | ||
19.347|6|19|00|19p13.1-p12|ZNF113|P|Zinc finger protein-113||603995|A|?13q21||| | ||
19.348|6|19|00|19p13.1-p12|ZNF118|P|Zinc finger protein-118||603997|A|?13q21||| | ||
19.349|6|6|00|19p13.1-p12|ZNF119|P|Zinc finger protein-119||603998|A|||| | ||
19.350|6|6|00|19p13.1-p12|ZNF120|P|Zinc finger protein-120||603999|A|||| | ||
19.351|6|6|00|19p13.1-p12|ZNF122|P|Zinc finger protein-122||604000|A|||| | ||
19.352|9|9|09|19p12|ZNF208, ZNF95|P|Zinc finger protein-208||603977|A|||| | ||
19.353|9|2|09|19p12|ZNF737, ZNF102|P|Zinc finger protein-737||603984|A|||| | ||
19.354|10|15|97|19p13.2|CACNA1A, CACNL1A4, SCA6|C|Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit||601011|A, Fd|||Migraine, familial hemiplegic, 1, 141500 (3); Episodic ataxia, type|2, 108500 (3); Spinocerebellar ataxia 6, 183086 (3); Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)| |8(tg, Cacl1a4)|
19.355|11|9|95|19p13.2|CDKN2D|P|Cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)||600927|A|possible tumor suppressor||| | ||
19.356|8|2|13|19p13.3|CELF5, BRUNOL5|P|CUGbp- and ELAV-like family, member 5||612680|REc|||| | ||
19.357|10|27|08|19p13.11|CRTC1, MECT1, KIAA0616, FLJ14027|P|CREB-regulated transcription coactivator 1||607536|Ch|t(11;19)||Mucoepidermoid salivary gland carcinoma (3)| | ||
19.358|6|28|11|19p13|DFNB81|P|Deafness, autosomal recessive 81||614129|Fd|max lod at D19S1034||Deafness, autosomal recessive 81 (2)| | ||
19.359|10|17|00|19p13.3|FSTL3, FLRG|P|Follistatin-like 3||605343|REa, A|||| | ||
19.360|8|13|13|19p13.3|GNA11, HHC2, HYPOC2|P|Guanine nucleotide-binding protein, Gq class, GNA11||139313|A|||Hypocalciuric hypercalcemia, type II, 145981 (3); Hypocalcemia,|autosomal dominant 2, 615361 (3) | |10(Gna11)|
19.361|9|27|95|19p13.3|GNA15, GNA16|P|Guanine nucleotide-binding protein (G protein) alpha 15 (Gq class)||139314|REa, A|||| | |10(Gna15)|
19.362|2|21|02|19p13|IBD6|P|Inflammatory bowel disease 6||606674|Fd|||{Inflammatory bowel disease 6} (2)| | ||
19.363|5|6|03|19p13.2|ILF3, NF90, DRBP76, MPHOSPH4, NFAR|P|Interleukin enhancer-binding factor 3||603182|A|||| | ||
19.364|10|24|03|19p13|MGR5|P|Migraine with or without aura, susceptibility to, 5||607508|Fd|||{Migraine with or without aura, susceptibility to, 5} (2)| | ||
19.365|6|15|99|19p13.3|NDUFS7, PSST|P|NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kD|(NADH-coenzyme Q reductase)|601825|A|||Leigh syndrome, 256000 (3)| | ||
19.366|5|22|03|19p13.2|P2RY11|P|Purinergic receptor P2Y, G protein-coupled, 11||602697|REc|fuses with PPAN||| | ||
19.367|3|9|98|19p13.2|PIN1, DOD|P|Peptidyl-prolyl cis/trans isomerase, NIMA-interacting||601052|Psh, A|||| | ||
19.368|5|22|03|19p13.2|PPAN, SSF1|P|Peter pan, Drosophila, homolog of||607793|REc|fuses with P2RY11||| | ||
19.369|11|21|00|19p13|PSORS6|P|Psoriasis susceptibility 6||605364|Fd|||{Psoriasis susceptibility 6} (3)| | ||
19.370|8|25|05|19p13.2|RTBDN|P|Retbindin||609553|REc|||| | ||
19.371|4|15|04|19p13.2|RDH8, PRRDH|P|Retinol dehydrogenase 8||608575|REc|||| | ||
19.372|6|28|99|19p13.3|SGTA, SGT|P|Small glutamine-rich tetratricopeptide repeat-containing protein,|alpha|603419|A|||| | ||
19.373|12|11|98|19p13.3|TNFSF7, CD70, CD27L|P|Tumor necrosis factor ligand superfamily, member 7 (CD70 antigen)||602840|A|||| | ||
19.374|6|4|13|19p13.3|UBXN6, UBXD1|P|UBX domain protein 6||611946|REc|||| | ||
19.375|9|9|10|19p13.2|ZNF177|P|Zinc finger protein 177||601276|REc|||| | ||
19.376|9|30|02|19p13-p12|ZNF253|P|Zinc finger protein 253||606954|A|||| | ||
19.377|4|6|11|19p13.2|ZNF317, KIAA1588|P|Zinc finger protein 317||613864|REc|||| | ||
19.378|5|27|93|19q13.33|CD37|P|Leukocyte surface antigen CD37||151523|REa|||| | ||
19.379|4|19|12|19p13.11|CERS1, LASS1, UOG1|P|Ceramide synthase 1||606919|A|||| | ||
19.380|1|11|13|19p13.11|CRLF1, CISS|C|Cytokine-like factor 1||604237|TM, REc, Fd, Ch|||Cold-induced sweating syndrome, 272430 (3)| | ||
19.381|11|2|98|19p13.11|CSPG3, NCAN|P|Chondroitin sulfate proteoglycan 3 (neurocan)||600826|REc|||| | ||
19.382|2|3|99|19p13.11|F2RL3, PAR4|P|Coagulation factor II, thrombin, receptor-like 3|(protease-activated receptor-4)|602779|A|||| | ||
19.383|1|24|04|19p13.11|FKBP8, FKBP38|P|FK506-binding protein 8||604840|R, REc|pseudogene on 1q32||| | ||
19.384|9|19|13|19p13.11|GDF1, DTGA3, DORV, RAI|P|Growth/differentiation factor 1||602880|REc|||Double-outlet right ventricle, 217095 (3); Tetralogy of Fallot,|187500 (3); Transposition of great arteries, dextro-looped 3, 613854 (3); Right atrial isomerism, 208530 (3)| ||
19.385|9|18|08|19p13.11|LPAR2, EDG4|P|Lysophosphatidic acid receptor 2||605110|REc|||| | |8(Edg4)|
19.386|11|8|95|19p13.11|MEF2B|P|MADS box transcription enhancer factor 2, polypeptide B (myocyte|enhancer factor 2B)|600661|REn|||| | |?8(Mef2b)|
19.387|11|30|06|19p13.12|PKN1, PRKCL1, PRK1, PAK1|C|Protein kinase N1||601032|R, A|||| | |8(Prkcl1)|
19.388|11|2|98|19p13.11|RFXANK|P|Regulatory factor X, ankyrin repeat-containing||603200|REc|||MHC class II deficiency, complementation group B, 209920 (3)| | ||
19.389|12|27|01|19p13.11|TM6SF2, KIAA1926|P|Transmembrane 6 superfamily, member 2||606563|REc|||| | ||
19.390|8|24|09|19p12|ZNF98|P|Zinc finger protein-98||603980|REc|||| | ||
19.391|8|24|09|19p12|ZNF99|P|Zinc finger protein-99||603981|REc|||| | ||
19.392|11|20|12|19p12|ZNF257|P|Zinc finger protein 257||606957|A|||| | ||
19.393|11|1|05|19p13.11|GMIP|P|GEM-interacting protein||609694|REc|||| | ||
19.394|11|30|94|19p|EXT3|P|Exostoses, multiple, 3||600209|Fd|||Exostoses, multiple, type 3 (2)| | ||
19.395|10|20|99|19p13.11|RPL18A|P|Ribosomal protein L18a||604178|REa, R|||| | ||
19.396|2|7|01|19p13.3|RPS15, RIG|P|Ribosomal protein S15||180535|REa, R|||| | ||
19.397|6|20|01|19p13.11|TMEM3, B3GNT3|P|Transmembrane protein 3 (beta-1,3-N-acetylglucosaminyltransferase 3)||605863|REc|||| | ||
19.398|7|13|93|19p13.3|ZNF77|P|Zinc finger protein-77 (pT1)||194551|REa|||| | ||
19.399|4|25|93|19p13.2|ZNF121, D19S204|P|Zinc finger protein-121 (clone ZHC32)||194628|REa, Fd|||| | ||
19.400|8|9|05|19p13.2|MAN2B1, MANB|C|Mannosidase, alpha, class 2B, member 1||609458|S, Psh, REa|||Mannosidosis, alpha-, types I and II, 248500 (3)| | |8(Man2b1)|
19.401|2|21|10|19q13.11|PEPD|C|Peptidase D (prolidase)||613230|S, F, H, Fd|closely linked to APOC2||Prolidase deficiency, 170100 (3)| | |7(Pep4)|
19.402|2|2|90|19q13.43|A1BG|P|Glycoprotein, alpha-1B||138670|F|order:  C3-SE-LU-A1BG||| | ||
19.403|4|8|11|19q|BFIS1, BFIC1|P|Benign familial infantile seizures||601764|Fd|||Seizures, benign familial infantile, 1 (2)| | ||
19.404|3|29|07|19q13.43|CHMP2A, VPS2A, VPS2, BC2|P|CHMP family, member 2A||610893|R|||| | ||
19.405|2|28|03|19q|HPCQTL19|P|Prostate cancer aggressiveness quantitative trait locus on chromosome|19|607592|Fd|D19S902||{Prostate cancer aggressiveness QTL}, 176807 (2)| | ||
19.406|8|27|01|19q13.32|PUMA|P|p53-upregulated modulator of apoptosis||605854|R|||| | ||
19.407|10|20|99|19q13.33|RPL18|P|Ribosomal protein L18||604179|REa, R|||| | ||
19.408|7|13|92|19q13.33|RPS11|P|Ribosomal protein S11||180471|Psh|||| | ||
19.409|2|7|01|19q13.2|RPS16|P|Ribosomal protein S16||603675|REa, R|||| | ||
19.410|2|7|01|19q13.2|SIRT2, SIR2L, SIR2L2|P|Sirtuin, S. cerevisiae, homolog 2||604480|REc|||| | ||
19.411|2|27|02|19q|SLI2|P|Specific language impairment QTL, 2||606712|Fd|||Specific language impairment QTL, 2 (2)| | ||
19.412|5|17|95|19q13.33|SYT3|P|Synaptotagmin-3||600327|REa, H|||| | |7(Syt3)|
19.413|3|9|11|19q13.2|CXCL17, VCC1, DMC|P|Chemokine (C-X-C motif) ligand 17||611387|REc|||| | ||
19.414|5|6|13|19q12|PLEKHF1, LAPF, PHAFIN1|P|Pleckstrin homolog domain-containing protein, family F, member 1||615200|REc|||| | |7(Plekhf1)|
19.415|3|19|93|19q13.12|HPN|P|Hepsin||142440|REa|||| | ||
19.416|11|20|13|19q12|C19orf12, NBIA4, SPG43|P|Chromosome 19 open reading frame 12||614297|REc|mutation identified in 1 SPG43 family||Neurodegeneration with brain iron accumulation 4, 614298 (3);|?Spastic paraplegia 43, autosomal recessive, 615043 (3) | ||
19.417|1|25|11|19q12|HSCR7|P|Hirschsprung disease, susceptibility to, 7||606875|Fd|||{Hirschsprung disease, susceptibility to, 7} (2)| | ||
19.418|1|14|13|19q13.2|MEGF8, EGFL4, CRPT2|P|Multiple epidermal growth factor-like domains 8||604267|R|||Carpenter syndrome 2, 614976 (3)| | ||
19.419|4|29|02|19q12|NNX3, RMP|P|NNX3 protein||603494|REc, A|||| | ||
19.420|5|27|94|19q13.12|POLR2I|P|Polymerase (RNA) II (DNA directed) polypeptide I, 14.5kD||180662|A|||| | ||
19.421|8|24|09|19q12|RPP29, POP4|P|Ribonuclease P, 29kD subunit||606114|R, REc|||| | ||
19.422|3|15|10|19q13.11|UBA2, SAE2|P|Ubiquitin-like modifier-activating enzyme 2||613295|REc|||| | ||
19.423|7|4|95|19q12|UQCRFS1|P|Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1||191327|REa, A, RE|||| | ||
19.424|3|9|00|19q13.2|DYRK1B, MIRK|C|Dual-specificity tyrosine phosphorylation-regulated kinase 1B||604556|R, REc|||| | ||
19.425|9|18|12|19q13.2|ATP1A3, DYT12, RDP, AHC2|C|ATPase, Na+K+ transporting, alpha-3 polypeptide||182350|REa, H, Fd|||Dystonia-12, 128235 (3); Alternating hemiplegia of childhood 2,|614820 (3) | |7(Atpla3)|
19.426|6|28|99|19q13.11|LRP3|P|Low density lipoprotein receptor related protein 3||603159|Psh, A|||| | ||
19.427|7|9|09|19q13.12|SDHAF1|P|Succinate dehydrogenase complex assembly factor 1||612848|REc, Fd|||Mitochondrial complex II deficiency, 252011 (3)| | ||
19.428|9|30|09|19q13|AAA1, AAA|P|Aortic aneurysm, familial abdominal 1||100070|Fd|near D19S416||Aortic aneurysm, familial abdominal 1 (2)| | ||
19.429|3|1|00|19q13.2|ACTN4, FSGS1, FSGS|C|Actinin, alpha-4||604638|Fd, REc|||Glomerulosclerosis, focal segmental, 1, 603278 (3)| | |7(Actn4)|
19.430|11|28|01|19q13.33|ACPT|P|Acid phosphatase, testicular||606362|REc|||| | ||
19.431|8|24|04|19q13|ANIB2|P|Aneurysm, intracranial berry, 2||608542|Fd|between D19S245 and D19S246||Aneurysm, intracranial berry, 2 (2)| | ||
19.432|9|15|98|19q13.33|BCAT2, BCT2|C|Branched chain aminotransferase-2, mitochondrial||113530|S, H|||?Hypervalinemia or hyperleucine-isoleucinemia (1)| | |7(Bcat2)|
19.433|6|5|90|19q13.32|BCL3|C|B-cell CLL/lymphoma-3||109560|Ch, S, H|||Leukemia/lymphoma, B-cell, 3 (2)| | |7(Bcl3)|
19.434|2|3|06|19q13.32|BLOC1S3, BLOS3, HPS8|P|Biogenesis of lysosome-related organelles complex 1, subunit 3||609762|R, Fd|||Hermansky-Pudlak syndrome 8, 614077 (3)| | |7(rp)|
19.435|8|18|04|19q13.2|CAPN12|P|Calpain 12||608839|REc|||| | |7(Capn12)|
19.436|7|23|13|19q13|CTRCT35, CATCN1|P|Cataract 35||609376|Fd|max lod at D19S416||Cataract 35, congenital nuclear (2)| | ||
19.437|10|25|90|19q13.32|CKM, CKMM|C|Creatine kinase, muscle type||123310|REa, A|||| | |7(Ckmm)|
19.438|12|4|02|19q13.12|CLIPR59|P|Cytoplasmic linker protein 170-related protein, 59kD||607382|R|||| | ||
19.439|1|31|08|19q13.2|CNFN|P|Cornifelin||611764|REc, H|||| | |7(Cnfn)|
19.440|9|30|09|19q13.33|CYTH2, PSCD2, ARNO, PSCD2L|P|Cytohesin 2||602488|R|||| | ||
19.441|3|30|00|19q13.2|DLL3, SCDO1|C|Delta, Drosophila, homolog of||602768|Fd, REc|||Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)| | |7(Dll3)|
19.442|4|1|08|19q13|EA7|P|Episodic ataxia, type 7||611907|Fd|between rs1366444 and rs952108||Episodic ataxia, type 7 (2)| | ||
19.443|9|12|95|19q13.2|ECH1|P|Enoyl Coenzyme A hydratase 1, peroxisomal||600696|REc, REa|||| | ||
19.444|12|7|04|19q13.42|EPN1|P|Epsin 1||607262|REc|||| | ||
19.445|6|30|05|19q13.33|FGF21|P|Fibroblast growth factor 21||609436|REc|||| | ||
19.446|7|18|12|19q13.33|FUZ, NTD|P|Fuzzy, Drosophila, homolog of||610622|REc|||Neural tube defects, 182940 (3)| | ||
19.447|10|19|10|19q13.12|HAMP, LEAP1, HEPC, HFE2B|C|Hepcidin antimicrobial peptide||606464|REc, Fd|digenic form with HAMP and HFE mutations||Hemochromatosis, type 2B, 613313 (3)| | |7(Hepc1)|
19.448|10|18|00|19q13.33|HRMT1L2, PRMT1, IR1B4|P|Heterogeneous nuclear ribonucleoprotein methyltransferase 1-like 2||602950|REa, A|||| | |7(Prmt1)|
19.449|3|7|06|19q13.43|NALP5, MATER|P|NACHT domain-, leucine-rich repeat-, and PYD-containing protein 5||609658|REc|||| | ||
19.450|9|1|95|19q13|OFC3|P|Orofacial cleft-3||600757|Fd|?role of BCL3||Orofacial cleft-3 (2)| | |7(Cebpa)|
19.451|10|29|03|19q13.32|PGRP, PGRPS|P|Peptidoglycan recognition protein||604963|REc|||| | ||
19.452|8|11|91|19q13.31|PLAUR, URKR|P|Plasminogen activator, urokinase, receptor||173391|REa, Fd|||| | ||
19.453|9|27|01|19q13.33|SLC17A7, BNPI, VGLUT1|P|Solute carrier family 17, (sodium-dependent inorganic phosphate|cotransporter), member 7|605208|A|||| | ||
19.454|8|1|12|19q13|UAQTL5|P|Uric acid concentration, serum, quantitative trait locus 5||614746|Fd|associated with rs150414818||[Uric acid concentration, serum, QTL5] (2)| | ||
19.455|10|16|95|19q13.12|USF2|L|Upstream transcription factor 2, c-fos interacting||600390|H|||| | |7(Usf2)|
19.456|9|30|02|19q13.43|ZNF256|P|Zinc finger protein 256||606956|A|||| | ||
19.457|12|27|13|19q13.2|ADCK4, NPHS9|P|AARF domain-containing kinase 4||615567|REc|||Nephrotic syndrome, type 9, 615573 (3)| | ||
19.458|12|2|92|19q13.12|ATP4A, ATP6A|P|ATPase, H+, K+ transporting, alpha||137216|A|||| | |7(Atp4a)|
19.459|9|7|10|19q13.2|CATSPERG|P|Cation channel, sperm-associated, gamma||613452|REc|||| | ||
19.460|1|27|97|19q12|CCNE|C|Cyclin E||123837|A, REc|||| | |7(Ccne)|
19.461|7|13|93|19q13.12|CD22|P|CD22 antigen||107266|A|||| | ||
19.462|5|3|01|19q13.11|CEBPA, CEBP|C|CCAAT/enhancer-binding protein (C/EBP), alpha||116897|REa, A|||Leukemia, acute myeloid, 601626 (3)| | ||
19.463|5|14|08|19q13.11|CHST8, GALNAC4ST1|P|Carbohydrate sulfotransferase 8||610190|REc|||| | ||
19.464|11|4|93|19q13.2|CLC|C|Charcot-Leyden crystal protein||153310|REa, A, RE|||| | ||
19.465|11|4|13|19q13.12|COX6B1|P|Cytochrome c oxidase, subunit VIb polypeptide 1 (ubiquitous)||124089|A|mutation identified in 1 family||?Cytochrome c oxidase deficiency, 220110 (3)| | ||
19.466|8|3|99|19q13.12|DAP10|P|DNAX-activation protein 10||604089|REn|||| | ||
19.467|7|22|13|19q13.2|ERF, PE2, CRS4|C|ETS2 repressor factor||611888|Psh, A, H|||Craniosynostosis 4, 600775 (3)| | |7(Erf)|
19.468|5|16|05|19q13.12|ETV2, ETSRP71|P|ETS variant gene 2||609358|R, REc|||| | ||
19.469|5|23|00|19q13.12|FXYD1, PLM|P|FXYD domain-containing ion transport regulator 1 (phospholemman)||602359|A|||| | ||
19.470|1|25|05|19q13.12|GAPDHS, GAPD2|P|Glyceraldehyde-3-phosphate dehydrogenase, spermatogenic||609169|REc|9.5 Mbp prox. to APOE||| | ||
19.471|9|9|10|19q13.11|GPI|C|Glucose phosphate isomerase; neuroleukin||172400|S, D, A|||Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase|deficiency, 613470 (3) | |7(Gpi1)|
19.472|5|21|99|19q13.12|GPR40|P|G protein-coupled receptor-40||603820|REn|||| | ||
19.473|5|21|99|19q13.12|GPR41|P|G protein-coupled receptor-41||603821|REn|||| | ||
19.474|5|21|99|19q13.12|GPR42|P|G protein-coupled receptor-42||603822|REn|||| | ||
19.475|5|21|99|19q13.12|GPR43|P|G protein-coupled receptor-43||603823|REn|||| | ||
19.476|5|2|01|19q13.2|KCNK6, TWIK2, TOSS|P|Potassium channel, subfamily K, member 6||603939|R|||| | ||
19.477|4|18|05|19q13.2|LGALS13, GAL13, PP13|P|Lectin, galactoside-binding, soluble, 13||608717|REc, R|||| | ||
19.478|4|25|93|19q13.12|MAG, GMA|C|Myelin-associated glycoprotein||159460|REa, REb, A|||| | |7(Mag)|
19.479|11|1|02|19q13.12|MLL4, KIAA0304|C|Myeloid/lymphoid or mixed-lineage leukemia 4||606834|R, REc, A|||| | ||
19.480|5|22|03|19q13.12|KIRREL2, NEPH3, NLG1, FILTRIN|P|Kin or IRRE-like 2 (nephrin-like 3)||607762|REc|||| | ||
19.481|2|9|00|19q13.2|NFKBIB, IKBB, TRIP9|P|Nuclear factor of kappa light chain gene enhancer in B cells|inhibitor, beta|604495|A|||| | ||
19.482|10|25|10|19q13.12|NPHS1, NPHN|P|Nephrin||602716|Fd, REn|||Nephrotic syndrome, type 1, 256300 (3)| | ||
19.483|10|2|98|19q13.2|PAFAH1B3|P|Platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit||603074|R, A|||| | ||
19.484|9|10|98|19q13.2|MRPS12, RPSM12|C|Ribosomal protein, mitochondrial, S12||603021|REa, R|||| | ||
19.485|3|13|08|19q13.2|PLEKHG2, CLG|P|Pleckstrin homology domain-containing protein, family G, member 2||611893|REc|||| | ||
19.486|3|22|07|19q13.2|PPP1R14A, CPI17|C|Protein phosphatase 1, regulatory subunit 14A||608153|R, REn|||| | ||
19.487|2|8|11|19q13.12|PSENEN, PEN2|P|Presenilin enhancer 2, C. elegans, homolog of||607632|R|||Acne inversa, familial, 2, 613736 (3)| | ||
19.488|2|28|03|19q13.2|RASGRP4|P|Ras guanyl nucleotide-releasing protein 4||607320|REc|||| | ||
19.489|7|12|13|19q13.2|RYR1, MHS, CCO|C|Ryanodine receptor-1, skeletal||180901|A, Fd, H|||{Malignant hyperthermia susceptibility 1}, 145600 (3); Central core|disease, 117000 (3); Minicore myopathy with external ophthalmoplegia, 255320 (3); Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3);|King-Denborough syndrome, 145600 (3) |7(Ryr)|
19.490|3|24|06|19q13.12|SBSN|P|Suprabasin||609969|REc, H|||| | |7(Sbsn)|
19.491|6||12|19q13.33|SCGF, LSLCL|C|Stem cell growth factor||604713|A, REc, H|||| | |7(Scgf)|
19.492|9|9|13|19q13.12|SCN1B, GEFSP1, BRGDA5, ATFB13|C|Sodium channel, voltage-gated, type I, beta polypeptide||600235|A, Fd|||Epilepsy, generalized, with febrile seizures plus, type 1, 604233|(3); Brugada syndrome 5, 612838 (3); Cardiac conduction defect, nonspecific, 612838 (3); Atrial fibrillation, familial, 13, 615377 (3)| ||
19.493|8|18|08|19q13.2|SERTAD3, RBT1|P|SERTA domain-containing 3||612125|REc|||| | ||
19.494|4|21|10|19q13.11|SLC7A9, CSNU3|C|Solute carrier family 7 (cationic amino acid transporter, y+ system),|member 9|604144|Fd, REc|||Cystinuria, 220100 (3)| | ||
19.495|2|12|99|19q13.2|SNRPA|P|Small nuclear ribonucleoprotein polypeptide A||182285|REa|||| | ||
19.496|4|1|09|19q13.2|SPINT2, HAI2, DIAR3|P|Serine protease inhibitor, Kunitz-type, 2 (hepatocyte growth factor|activator inhibitor 2; bikunin, placental)|605124|Psh|||Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)| | ||
19.497|12|23|05|19q13.2|TGFB1, DPD1, CED|C|Transforming growth factor, beta-1||190180|REa, A, Fd|||Camurati-Engelmann disease, 131300 (3); {Cystic fibrosis lung|disease, modifier of}, 219700 (3) | |7(Tgfb1)|
19.498|7|15|99|19q13.33|TULP2|P|Tubby-like protein-2||602309|R|||| | ||
19.499|12|11|02|19q13.12|TYROBP, PLOSL, DAP12|C|TYRO protein tyrosine kinase-binding protein||604142|REc, Fd, Ld|||Nasu-Hakola disease, 221770 (3)| | ||
19.500|3|17|08|19q13.12|UPK1A, UPIA|P|Uroplakin 1A||611557|REc|||| | ||
19.501|1|17|07|19q13.12|ZBTB32, FAXF, TZFP, ROG|P|Zinc finger- and BTB domain-containing protein 32||605859|REc|||| | ||
19.502|8|19|91|19q13.2|ZFP36, TTP|P|Zfp36, mouse, homolog of||190700|REa, A, H|||| | |7(Zfp36)|
19.503|1|6|97|19q13.12|ZNF146, OZF|P|Zinc finger protein-146||601505|A|||| | ||
19.504|11|14|11|19q13.2|AKT2, HIHGHH|P|Murine thymoma viral (v-akt) homolog-2||164731|A|||Diabetes mellitus, type II, 125853 (3); Hypoinsulinemic hypoglycemia|with hemihypertrophy, 240900 (3) | |7(Akt2)|
19.505|9|22|93|19q13.2|AXL|C|AXL transforming sequence (a receptor tyrosine kinase)||109135|A|||| | ||
19.506|1|29|04|19q13.2|BCKDHA, MSUD1|C|Branched chain keto acid dehydrogenase E1, alpha polypeptide||608348|REa, REb, A|||Maple syrup urine disease, type Ia, 248600 (3)| | ||
19.507|7|13|95|19q13.2|LIPE, LHS|C|Lipase, hormone-sensitive||151750|REa, A|||| | |7(Lipe)|
19.508|1|31|13|19q13.2|LTBP4, LTBP4S, LTBP4L, ARCL1C|P|Latent transforming growth factor-beta-binding protein 4||604710|A|||Cutis laxa, autosomal recessive, type IC, 613177 (3)| | ||
19.509|9|24|08|19q13.31|LYPD3|P|LY6/PLAUR domain-containing protein 3||609484|A|||| | ||
19.510|4|6|00|19q13.2|MAP3K10, MLK2, MST|P|Mitogen-activated protein kinase kinase kinase 10||600137|A|||| | ||
19.511|10|24|12|19q13.2|PRX, CMT4F|P|Periaxin||605725|A, REc|||Dejerine-Sottas disease, autosomal recessive, 145900 (3);|Charcot-Marie-Tooth disease, type 4F, 614895 (3) | ||
19.512|6|28|99|19q13.2|SUPT5H, SPT5|P|Suppressor of Ty 5, S. cerevisiae, homolog of||602102|Psh, R, H|||| | |7(Supt5h)|
19.513|1|12|07|19q13.2|MAP4K1, HPK1|P|Mitogen-activated protein kinase kinase kinase kinase 1||601983|R, REc|||| | ||
19.514|9|30|09|19q13.11|DEL19q13.11, C19DELq13.11|P|Chromosome 19q13.11 deletion syndrome||613026|Ch|contiguous gene syndrome||Chromosome 19q13.11 deletion syndrome (4)| | ||
19.515|10|23|87|19q13.1-qter|E11S|C|Echo 11 sensitivity||129150|S|||| | ||
19.516|4|17|07|19q13.11|C19orf40, FAAP24|P|Chromosome 19 open reading frame 40 (Fanconi anemia-associated|protein, 24kD|610884|REc|||| | ||
19.517|11|1|13|19q13.11|CEP89, CCDC123, CEP123, FLJ14640|P|Centrosomal protein, 89kD||615470|REc|||| | ||
19.518|1|9|14|19q13.11|CEBPG, GPE1BP|P|CCAAT/enhancer-binding protein, gamma||138972|REc|||| | ||
19.519|4|15|11|19q13.11|DPY19L3|P|DPY19-like 3||613894|REc|||| | ||
19.520|1|9|13|19p13.11|GATAD2A|P|GATA zinc finger domain-containing protein 2A||614997|REc|||| | ||
19.521|5|24|13|19q13.11|KCTD15|P|Potassium channel tetramerization domain-containing protein 15||615240|REc|||| | ||
19.522|12|4|03|19q13.12|LGI4|P|Leucine-rich gene, glioma-inactivated, 4||608303|REc|||| | |7(Lgi4)|
19.523|2|7|07|19q13.11|RGS9BP, R9AP, RGS9, PERRS|P|Regulator of G protein signaling 9-binding protein||607814|R|||Bradyopsia, 608415 (3)| | ||
19.524|2|22|13|19q13.11|SCGB2B2|P|Secretoglobin, family 2B, member 2||615063|REc|||| | ||
19.525|7|27|11|19q12|TSHZ3, KIAA1474|P|Teashirt zinc finger homeobox 3||614119|Psh, REc|||| | ||
19.526|9|29|96|19q13.12|CKAP1|P|Cytoskeleton-associated protein 1||601303|A|||| | ||
19.527|6|28|99|19q13.2|PSMC4, TBP7, S6|P|Proteasome 26S subunit, ATPase, 4||602707|A|||| | ||
19.528|3|16|10|19q13.12|ALKBH6, ABH6|P|AlkB, E. coli, homolog of, 6||613304|REc|||| | ||
19.529|12|10|12|19q13.12|ARHGAP33, TCGAP|P|Rho GTPase-activating protein 33||614902|REc|||| | ||
19.530|8|24|09|19q13.12|CAPNS1, CAPN4|P|Calpain, small polypeptide||114170|REb, REc|||| | ||
19.531|3|26|07|19q13.12|COX7A1, COX7AM|C|Cytochrome c oxidase, subunit VIIa, polypeptide-1, muscle||123995|REa, R, REc|||| | ||
19.532|8|24|09|19q13.12|FXYD3, PLML, MAT8|P|FXYD domain-containing ion transport regulator 3||604996|R, REc|||| | ||
19.533|3|26|07|19q13.12|FXYD5|C|FXYD domain-containing ion transport regulator 5||606669|R, REc|||| | ||
19.534|8|24|09|19q13.12|FXYD7|P|FXYD domain-containing ion transport regulator 7||606684|R, REc|||| | ||
19.535|9|7|10|19q13.12|HAUS5, DGT5, KIAA0841|P|HAUS augmin-like complex, subunit 5||613432|R, REc|||| | ||
19.536|8|24|09|19q13.12|HKR1|P|GLI-Kruppel family member HKR1 (oncogene HKR1)||165250|REa, REc|||| | ||
19.537|8|5|11|19q13.12|IGFLR1, TMEM149|P|IGF-like family receptor 1||614143|REc|||| | ||
19.538|2|21|10|19q13.12|RBM42|P|RNA-binding motif protein 42||613232|REc|||| | ||
19.539|11|22|13|19q13.12|SYNE4, NESP4, C19orf46, DFNB76|P|Spectrin repeat-containing nuclear envelope protein 4||615535|REc|||Deafness, autosomal recessive 76, 615540 (3)| | ||
19.540|1|20|09|19q13.12|THAP8|P|THAP domain-containing protein 8||612536|REc|||| | ||
19.541|6|8|11|19q13.12|WDR62, C19orf14, MCPH2|C|WD repeat-containing protein 62||613583|REc, Fd|||Microcephaly 2, primary, autosomal recessive, with or without|cortical malformations, 604317 (3) | ||
19.542|9|2|12|19q13.11|WTIP|P|WT1-interacting protein||614790|REc|||| | ||
19.543|2|21|11|19q13.12|ZNF260, PEX1|P|Zinc finger protein 260||613749|REc, H|||| | |7(Zfp260)|
19.544|10|5|11|19q13.12|ZNF565|P|Zinc finger protein 565||614275|REc|||| | ||
19.545|5|16|11|19q13.12|ZNF569|P|Zinc finger protein 569||613904|REc|||| | ||
19.546|3|29|00|19q13.2|ARHGEF1, LBCL2|P|Rho guanine nucleotide exchange factor, 115-kD||601855|R|||| | ||
19.547|1|10|07|19q13.12|HSPB6, HSP20|P|Heat-shock 27kD protein 6||610695|REc|||| | ||
19.548|2|11|13|19q13.2|IFNL1, IL29|P|Interferon, lambda 1||607403|REc|||| | ||
19.549|2|11|13|19q13.2|IFNL2, IL28A|P|Interferon, lambda 2||607401|REc|||| | ||
19.550|2|11|13|19q13.2|IFNL3, IL28B|P|Interferon, lambda 3||607402|REc|||{Hepatitis C virus infection, response to therapy of}, 609532 (3)| | ||
19.551|3|14|13|19q13.2|IFNL4|P|Interferon, lambda-4||615090|REc|||| | ||
19.552|1|26|12|19q13.12|ZNF382, KS1|P|Zinc finger protein 382||609516|REc|||| | ||
19.553|7|11|11|19q13.2|SELV|P|Selenoprotein V||607919|REc|||| | ||
19.554|10|11|07|19q13.2|SPRED3|P|Sprouty-related EVH1 domain-containing protein 3||609293|REc|||| | |7(Spred3)|
19.555|8|30|01|19q13.2|SPTBN4, QV|C|Spectrin, beta, nonerythrocytic, 4 (quivering, mouse, homolog of)||606214|R, A|||| | |7(Spnb4)|
19.556|5|13|11|19q13.12|ZNF540|P|Zinc finger protein 540||613903|REc|||| | ||
19.557|1|1|96|19q13.2|BLVRB, BVRB, FLR|P|Biliverdin reductase B||600941|A|||| | ||
19.558|12|18|08|19q13.2|DPF1, NEUD4|C|D4, zinc, and double PHD fingers family, member 1||601670|REa, REc|||| | ||
19.559|2|1|00|19q13.2|NUMBL, NUMBR, NBL|P|Numb, Drosophila, homolog-like||604018|Fd|||| | ||
19.560|11|16|98|19q13.33|GRIN2D, NMDAR2D|P|Glutamate receptor, ionotropic, N-methyl-D-aspartate 2D||602717|R|||| | ||
19.561|3|26|07|19q13.12|APLP1, APLP|C|Amyloid beta (A4) precursor-like protein-1||104775|REa|||| | ||
19.562|10|16|95|19q13.32|APOC4|P|Apolipoprotein C-IV||600745|REn|555bp upstream of APOC2||| | ||
19.563|5|18|09|19q13.32|APOE, AD2, LPG, LDLCQ5|C|Apolipoprotein E||107741|F, REa, LD, A, Fd|possible 2nd locus for AD2 on chr.19||Hyperlipoproteinemia, type III (3); {Myocardial infarction|susceptibility} (3); Sea-blue histiocyte disease, 269600 (3); Alzheimer disease-2, 104310 (3); {?Macular degeneration, age-related}, 603075 (3);|Lipoprotein glomerulopathy, 611771 (3) |7(Apoe)|
19.564|4|25|93|19q13.32|APOC1|C|Apolipoprotein C-I||107710|REa, RE, A|||| | ||
19.565|10|29|03|19q13.32|APOC2|C|Apolipoprotein C-II||608083|REa, F, LD, A, Fd|||Hyperlipoproteinemia, type Ib, 207750 (3)| | ||
19.566|9|2|11|19q13.2|B9D2, MKS10|P|B9 domain-containing protein 2||611951|REc|||Meckel syndrome 10, 614175 (3)| | |7(B9d2)|
19.567|8|7|13|19q13.2|B3GNT8, BGALT15, B3GALT7|P|Beta-1,3-galactosyltransferase 8||615357|REc|||| | |7(B3gnt8)|
19.568|2|16|04|19q13.32|CBLC|C|CAS-BR-M murine ecotropic retroviral transforming sequence C||608453|Psh, R, A|||| | ||
19.569|1|6|00|19q13.2|CEACAM1, BGP|C|Carcinoembryonic antigen-related cell adhesion molecule 1 (biliary|glycoprotein)|109770|H, REn|in CEA cluster||| | |7(Bgp1)|
19.570|1|6|00|19q13.2|CEACAM5, CEA|C|Carcinoembryonic antigen-related cell adhesion molecule 5||114890|REa, A, REc|proximal to PSG cluster in 1.1-1.2Mb segment||| | ||
19.571|1|6|00|19q13.2|CEACAM6, NCA|C|Carcinoembryonic antigen-related cell adhesion molecule 6|(non-specific crossreacting antigen)|163980|REa, A, REn|in CEA cluster||| | ||
19.572|6|25|08|19q13.2|CIC, KIAA0306|P|Capicua, Drosophila, homolog of||612082|REc|||| | ||
19.573|12|20|05|19q13.2|CRI2, EID2|P|CREBBP/EP300 inhibitory protein 2||609773|REc, R|||| | |7(Cri2)|
19.574|8|26|03|19q13.2|CYP2A7|P|Cytochrome P450, subfamily IIA, polypeptide 7||608054|REc|||| | ||
19.575|8|26|03|19q13.2|CYP2A13|P|Cytochrome P450, subfamily IIA, polypeptide 13||608055|REc|||| | ||
19.576|1|5|09|19q13.2|CYP2S1|P|Cytochrome P450, family 2, subfamily S, polypeptide 1||611529|REc|||| | ||
19.577|9|10|12|19q13.2|DMRTC2|P|Doublesex- and MAB3-related transcrption factor C2||614806|REc|||| | ||
19.578|8|24|09|19q13.2|EGLN2, PHD1, HIFPH1|P|Egl9, C. elegans, homolog of, 2||606424|R, REc|||| | ||
19.579|6|1|12|19q13.2|EXOSC5, RRP46|P|Exosome component 5||606492|REc|||| | ||
19.580|9|29|10|19q13.2|FBL|P|Fibrillarin||134795|REc|||| | ||
19.581|9|9|08|19q13.2|FBXO17, FBX17, FBX26, FBG4|C|F-box only protein 17||609094|REc|||| | |7(Fbxo17)|
19.582|9|9|08|19q13.2|FBXO27, FBX27, FBG5|C|F-box only protein 27||609099|REc|||| | |7(Fbxo27)|
19.583|2|4|00|19q13.2|GMFG|P|Glia maturation factor, gamma||604104|REn|||| | ||
19.584|8|24|09|19q13.2|HNRNPUL1, HNRPUL1, E1BAP5|P|Heterogeneous nuclear ribonucleoprotein U-like 1||605800|R, REc|||| | ||
19.585|7|15|09|19q13.2|LRFN1, SALM2, KIAA1484|P|Leucine-rich repeat and fibronectin type III domain-containing|protein 1|612807|REc|||| | ||
19.586|7|15|09|19q13.12|LRFN3, SALM4|P|Leucine-rich repeat and fibronectin type III domain-containing protein|3|612809|REc, H|||| | |7(Lrfn3)|
19.587|12|20|01|19q13.32|MARK4, KIAA1860, MARKL1|P|Map/microtubule affinity-regulating kinase-4||606495|REc|||| | ||
19.588|7|22|09|19q13.2|MED29, IXL|P|Mediator complex subunit 29||612914|REc|||| | ||
19.589|10|4|02|19q13.31|NB1, PRV1, CD177, HNA2A|P|Neutrophil-specific antigen 1||162860|REc|||| | ||
19.590|8|24|09|19q13.2|POU2F2, OTF2, OCT2|P|POU domain, class 2, transcription factor 2||164176|REa, REc|||| | |7(Otf2)|
19.591|1|6|00|19q13.2|PSG10, PSG12|P|Pregnancy-specific beta-1-glycoprotein-10||176399|A|||| | ||
19.592|1|6|00|19q13.31|PSG11, PSG13, PSG14|P|Pregnancy-specific beta-1-glycoprotein-11||176401|A|||| | ||
19.593|8|29|03|19q13.32|PVRL2, HVEB, PVRR2, PRR2|C|Poliovirus receptor-like 2||600798|REc, A|||| | ||
19.594|8|2|10|19q13.2|CD79A, IGA|P|CD79A antigen (immunoglobulin-associated alpha)||112205|Psh|||Agammaglobulinemia 3, 613501 (3)| | ||
19.595|5|8|07|19q13.2|CYP2A6, CYP2A3, CYP2A, P450C2A|C|Cytochrome P450, subfamily IIA, phenobarbital-inducible, polypeptide|6|122720|REa, A, Fd, REn|||Coumarin resistance, 122700 (3); {Nicotine addiction, protection|from}, 188890 (3); {Lung cancer, resistance to}, 211980 (3) | |7(Cyp2a)|
19.596|4|2|12|19q13.2|CYP2B6, CYP2B, EFVM|C|Cytochrome P450, family 2, subfamily B, polypeptide 6||123930|REa, REn, Fd, Psh|same NotI fragment as CYP2A||Efavirenz, poor metabolism of, 614546 (3); {Efavirenz central|nervous system toxicity, susceptibility to}, 614546 (3) | |7(Cyp2b)|
19.597|4|25|93|19q13.2|CYP2F1|C|Cytochrome P450, subfamily IIF, polypeptide 1||124070|Fd, REa, A, REn|CYP2A, CYP2B, CYP2F1 in 240kb||| | |7(Cyp2f1)|
19.598|10|3|07|19q13.2|EIF3K, PLAC24, EIF3S12|P|Eukaryotic translation initiation factor 3, subunit K||609596|REc|||| | ||
19.599|3|24|06|19q13.2|GGN|P|Gametogenetin, mouse, homolog of||609966|R, REc|||| | |7(Ggn)|
19.600|1|12|95|19q13.2|GRIK5|P|Glutamate receptor, ionotropic, kainate 5||600283|REa, A|||| | |7(Grik5)|
19.601|3|24|06|19q13.32|HIF3A, IPAS|C|Hypoxia-inducible factor 3, alpha subunit||609976|REc|||| | ||
19.602|1|4|08|19q13.2|HIPK4|P|Homeodomain-interacting protein kinase 4||611712|REc|||| | ||
19.603|12|28|08|19q13.31|IGSF4C, TSLL2, NECL4, SYNCAM4|P|Immunoglobulin superfamily, member 4C||609744|A, H|||| | |7(Igsf4c)|
19.604|2|11|08|19q13.2|ITPKC|C|Inositol 1,4,5-trisphosphate 3-kinase C||606476|R, REc, Fd|||{Kawasaki disease, susceptibility to}, 611775 (3)| | ||
19.605|5|28|99|19q13.31|KCNN4, KCA4, SK4|P|Potassium intermediate/small conductance calcium-activated channel,|subfamily N, member 4|602754|A|||| | ||
19.606|4|18|05|19q13.2|LGALS4|P|Lectin, galactoside-binding, soluble, 4||602518|REc|||| | ||
19.607|4|18|05|19q13.2|LGALS7|P|Lectin, galactoside-binding, soluble, 7 (galectin 7)||600615|REa, REc|||| | ||
19.608|1|8|01|19q13.42|LILRA1, LIR6|P|Leukocyte immunoglobulin-like receptor, subfamily A, member 1||604810|R|||| | ||
19.609|1|8|01|19q13.42|LILRB5, LIR8|P|Leukocyte immunoglobulin-like receptor, subfamily B, member 5||604814|R|||| | ||
19.610|7|16|09|19q13.32|LU, AU, BCAM|C|B-cell adhesion molecule||612773|F, H|linked to SE||[Blood group, Lutheran system], 111200 (3); [Blood group, Auberger|system], 111200 (3); [Blood group, Lutheran null], 247420 (3) | |7(lu)|
19.611|10|30|06|19q13.2|PAF1, PD2|P|PAF1 RNA polymerase II-associated factor, S. cerevisiae, homolog of||610506|Psh, REc|||| | ||
19.612|8|24|09|19q13.2|PAK4|P|p21-activated kinase 4||605451|R, REc|||| | ||
19.613|7|11|11|19q13.2|PAPL, FLJ16165|P|Purple acid phosphatase, long form||610490|REc|||| | ||
19.614|10|7|02|19q13.2|PPL13|P|Placental protein 13-like protein||607260|REc|||| | ||
19.615|8|20|07|19q13.33|PPP1R15A, GADD34|P|Protein phosphatase 1, regulatory subunit 15A||611048|A, REc|||| | ||
19.616|8|24|09|19q13.2|PRA1|P|Prenylated RAB acceptor 1||604925|R, REc|||| | ||
19.617|7|11|11|19q13.31|PRG1|P|p53-responsive gene 1||605157|REc|||| | ||
19.618|3|1|01|19q13.2|PSG1, PSBG1, B1G1, SP1|C|Pregnancy-specific beta-1-glycoprotein-1||176390|REa, REc|distal to CEA||| | ||
19.619|4|25|93|19q13.31|PSG2, PSBG2|C|Pregnancy-specific beta-1-glycoprotein-2||176391|RE, A|||| | ||
19.620|6|13|95|19q13.2|PSG3|P|Pregnancy-specific beta-1-glycoprotein-3||176392|A|||| | ||
19.621|3|1|01|19q13.31|PSG4|C|Pregnancy-specific beta-1-glycoprotein-4||176393|REa, REc|||| | ||
19.622|3|1|01|19q13.31|PSG5|C|Pregnancy-specific beta-1-glycoprotein-5||176394|REa, REc|||| | ||
19.623|3|1|01|19q13.31|PSG6|C|Pregnancy-specific beta-1-glycoprotein-6||176395|REa, REc|||| | ||
19.624|3|1|01|19q13.31|PSG7|C|Pregnancy-specific beta-1-glycoprotein-7||176396|REa, REc|||| | ||
19.625|3|1|01|19q13.2|PSG8|C|Pregnancy-specific beta-1-glycoprotein-8||176397|REa, REc|||| | ||
19.626|1|6|00|19q13.31|PSG9, PSG11|P|Pregnancy-specific beta-1-glycoprotein-9||176398|A|||| | ||
19.627|8|9|99|19q13.2|RPS19, DBA, DBA1|C|Ribosomal protein S19||603474|Ch, Fd, D, REc|||Diamond-Blackfan anemia 1, 105650 (3)| | ||
19.628|3|31|11|19q13.2|SARS2|P|Seryl-tRNA synthetase 2||612804|REc|||Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis,|613845 (3) | ||
19.629|8|24|09|19q13.33|SPHK2|P|Sphingosine kinase 2||607092|R, REc|||| | ||
19.630|1|11|07|19q13.2|TEC|P|Transient erythroblastopenia of childhood||227050|Fd|||Transient erythroblastopenia of childhood (2)| | ||
19.631|8|29|03|19q13.32|TOMM40, TOM40, PEREC1|P|Translocase of outer mitochondrial membrane 40, yeast, homolog of||608061|REc|||| | ||
19.632|4|25|93|19q13.31|XRCC1|C|X-ray-repair, complementing defective, repair in Chinese hamster|cells-1|194360|S, A|||| | |7(Xrcc1)|
19.633|8|7|00|19q13.31|ZFP93, ANF270, HZF6|P|Zinc finger protein 93, mouse, homolog of||604749|REc|||| | |7(Zfp93)|
19.634|2|7|07|19q13.31|ZNF45, ZNF13, KOX5|P|Zinc finger protein-45||194554|REc, A|||| | ||
19.635|3|6|02|19q13.31|ZNF180|P|Zinc finger protein-180||606740|A|||| | ||
19.636|3|6|02|19q13.11|ZNF181|P|Zinc finger protein-181||606741|A|||| | ||
19.637|12|19|11|19q13.2|ZNF526, KIAA1951|P|Zinc finger protein 526||614387|REc|||| | ||
19.638|2|12|13|19q13.32|AP2S1, CLAPS2, AP17, HHC3|C|Adaptor-related protein complex 2, sigma 1 subunit||602242|A|||Hypocalciuric hypercalcemia, familial, type III, 600740 (3)| | ||
19.639|3|2|00|19q13.33|CA11, CARP2|P|Carbonic anhydrase XI||604644|A|||| | ||
19.640|7|13|93|19q13.32|CALM3|C|Calmodulin-3||114183|REa, Psh, A|||| | ||
19.641|4|27|12|19q13.32|CD3EAP, ASE1, PAF49|P|CD3-epsilon-associated protein||107325|REc|||| | ||
19.642|11|3|00|19q13.32|DMPK, DM, DMK|C|Dystrophia myotonica-protein kinase||605377|F, Fd|distal to APOLP2; distal to CKM||Myotonic dystrophy 1, 160900 (3)| | |7(Dm15)|Fu (1992); Mahadevan (1992)
19.643|2|20|07|19q13.32|ERCC1, UV20, COFS4|C|Excision repair cross complementing rodent repair deficiency,|complementation group-1|126380|S, RE, Fd, A|distal to CKM||Cerebrooculofacioskeletal syndrome 4, 610758 (3)| | ||
19.644|2|20|07|19q13.32|ERCC2, EM9, XPD, COFS2|C|Excision repair cross complementing rodent repair deficiency,|complementation group-2|126340|S, RE, M|< 250kb from ERCC1||Xeroderma pigmentosum, group D, 278730 (3); Trichothiodystrophy,|601675 (3); Cerebrooculofacioskeletal syndrome 2, 610756 (3) | |7(Ercc2)|Flejter (1992)
19.645|2|15|96|19q13.32|GPR4|P|G protein-coupled receptor-4||600551|A|||| | ||
19.646|1|12|06|19q13.32|KLC3, KLC2L|P|Kinesin, light chain, 3||601334|REn|||| | ||
19.647|4|25|93|19q13.33|LIG1|C|Ligase I, DNA, ATP-dependent||126391|REa, A|||DNA ligase I deficiency (3)| | |7(Lig1)|Barnes (1992); Webster (1992)
19.648|6|13|07|19q13.2-q13.3|MRT11|P|Mental retardation, autosomal recessive, 11||611097|Fd|between rs2109075 and rs8101149||Mental retardation, autosomal recessive, 11 (2)| | ||
19.649|6|28|99|19q13.32|NPAS1, MOP5|P|Neuronal PAS domain protein 1||603346|Psh, R, H|||| | |7(Npas1)|
19.650|9|9|11|19q13.32|OPA3, MGA3|C|OPA3 gene||606580|Fd, REc|||3-methylglutaconic aciduria, type III, 258501 (3); Optic atrophy|3 with cataract, 165300 (3) | ||
19.651|5|2|11|19q13.31|PVR, PVS|C|Polio virus receptor||173850|S, A, REa|||| | |9(Pvs)|
19.652|9|10|09|19q13.2|RAB4B|P|Ras-associated protein RAB4B||612945|R|||| | ||
19.653|10|27|10|19q13.32|TRNAU1, TRSP|C|Transfer RNA selenocysteine 1 (anticodon UCA)||165060|REa, A, Fd|pseudogene on 22||| | |7(Trsp)|
19.654|3|31|97|19q13.32|VASP|P|Vasodilator-stimulated phosphoprotein||601703|A|||| | ||
19.655|9|2|11|19q13.32|CCDC8, 3M3|P|Coiled-coil domain-containing protein 8||614145|REc|||Three M syndrome 3, 614205 (3)| | ||
19.656|6|19|00|19q13.31|ZNF155|P|Zinc finger protein-155||604086|A|||| | ||
19.657|6|4|99|19q13.2-q13.4|CFM1|P|Cystic fibrosis modifier-1||603855|Fd|||{Meconium ileus in cystic fibrosis, susceptibility to} (2)| | |7(Cfm1)|
19.658|9|18|02|19q13.32|FOXA3, HNF3G|P|Forkhead box A3|(hepatocyte nuclear factor-3, gamma)|602295|A|||| | |7(Hnf3g)|
19.659|3|19|01|19q13.32|GRLF1, P190A|P|Glucocorticoid receptor DNA-binding factor 1||605277|REa, A, R|||| | ||
19.660|9|15|96|19q13.33|NUCB1|P|Nucleobindin 1||601323|Psh, A|||| | ||
19.661|11|29|12|19p13.11|PIK3R2, MPPH|P|Phosphatidylinositol 3-kinase, regulatory subunit 2||603157|A|||Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome,|603387 (3) | ||
19.662|4|25|93|19q13.43|ZNF42, MZF1|P|Zinc finger protein-42 (myeloid-specific retinoic acid responsive)||194550|A, REb|||| | ||
19.663|2|7|07|19q13.31|ZNF224, ZNF255, BMZF2, KOX22, ZNF27|P|Zinc finger protein-224||194555|REc, A|||| | ||
19.664|9|18|00|19q13.33|AP2A1, CLAPA1, ADTAA|P|Adaptor-related protein complex 2, alpha 1 subunit||601026|REc|match to PAC AC006942||| | ||
19.665|6|3|02|19p13.2|ASNA1, ARSA1|P|arsA arsenite transporter, ATP-binding, E. coli, homolog of, 1||601913|Psh|||| | |8(Asna1)|
19.666|8|24|09|19q13.33|ATF5, ATFX|P|Activating transcription factor 5||606398|R, REc|||| | ||
19.667|3|12|07|19q13.33|BCL2L12|P|BCL2-like 12||610837|REc|||| | ||
19.668|12|10|08|19q13.33|CARD8, TUCAN, KIAA0955, NDPP1|P|Caspase recruitment domain-containing protein 8||609051|REc|||| | ||
19.669|2|8|13|19q13.33|CCDC114, CILD20|P|Coiled-coil domain-containing protein 114||615038|REc|||Ciliary dyskinesia, primary, 20, 615067 (3)| | ||
19.670|9|9|11|19q13.33|CRX, CORD2, CRD, LCA7|C|Cone-rod homeo box-containing gene||602225|Fd|||Cone-rod retinal dystrophy-2, 120970 (3); Leber congenital|amaurosis 7, 613829 (3) | ||
19.671|8|30|07|19q13.32|DACT3|C|Dapper, antagonist of beta-catenin, 3||611112|R, REn|||| | |7(Dact3)|
19.672|2|15|96|19q13.33|DBP|C|D site of albumin promoter binding protein||124097|REa, A, REc|||| | |7(Dbp)|
19.673|3|20|06|19q13.32|DMWD, DMRN9|P|Dystrophia myotonica WD repeat-containing protein||609857|REc|||| | ||
19.674|5|2|01|19q13.33|EHD2|C|EH domain-containing 2||605890|REc|||| | ||
19.675|10|20|99|19q13.33|EMP3|P|Epithelial membrane protein 3||602335|A, REa, R|||| | |7(Emp3)|
19.676|8|25|03|19q13.41|ETFB, MADD|C|Electron transfer flavoprotein, beta polypeptide||130410|REa, A|||Glutaric acidemia IIB, 231680 (3)| | |7(Etfb)|
19.677|9|9|08|19q13.32|FBXO46, FBX46|P|F-box only protein 46||609117|R, REc|||| | |7(Fbxo46)|
19.678|9|23|96|19q13.33|FCGRT|P|Fc fragment of IgG, receptor, transporter, alpha||601437|A|||| | ||
19.679|11|10|10|19q13.32|FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5|C|Fukutin-related protein||606596|R|||Muscular dystrophy-dystroglycanopathy (congenital with brain and eye|anomalies), type A, 5, 613153 (3); Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3);|Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3) ||
19.680|6|11|92|19q13.32|FOSB|P|Oncogene FOS-B||164772|REn|||| | |7(Fosb)|
19.681|9|17|03|19q13.33|FUT1, H, HH|C|Fucosyltransferase-1 (Bombay phenotype)||211100|F, Fd|SE tightly linked||[Bombay phenotype] (3)| | ||
19.682|1|24|09|19q13.33|FUT2, SE, B12QTL1|C|Fucosyltransferase-2 (secretor)||182100|F, Fd|H, SE = alpha-L-fucosyltransferases; from common ancestral genes;|tightly linked to FUT1|{Norwalk virus infection, resistance to} (3); [Bombay phenotype]|(3); {Vitamin B12 plasma level QTL1}, 612542 (3) | ||
19.683|7|8|10|19q13.32|GIPR, PGQTL2|C|Gastric inhibitory polypeptide receptor||137241|A, Fd|||[Plasma glucose, 2-hour, QTL 2] (2)| | ||
19.684|2|28|01|19q13.33|GLTSCR1|P|Glioma tumor suppressor candidate region gene 1||605690|D|||| | ||
19.685|2|28|01|19q13.33|GLTSCR2|P|Glioma tumor suppressor candidate region gene 2||605691|D|||| | ||
19.686|11|5|98|19q13.33|GPR32|P|G protein-coupled receptor-32||603195|A|||| | ||
19.687|11|30|06|19q13.33|GRWD1, GRWD, KIAA1942|P|Glutamate-rich WD repeat-containing protein 1||610597|REc|||| | ||
19.688|11|13|07|19q13.33|GYS1, GYS|C|Glycogen synthase||138570|REa, A|||Glycogen storage disease 0, muscle, 611556 (3)| | ||
19.689|1|25|91|19q13.33|HRC|P|Histidine-rich calcium-binding protein||142705|REa, A, H|||| | ||
19.690|9|5|02|19q13.33|KCNA7|C|Potassium voltage-gated channel, shaker-related subfamily, member 7||176268|REa, A|||| | |7(Kcna7)|
19.691|12|21|09|19q13.33|MED25, PTOV2, ARC92, CMT2B2|P|Mediator of RNA polymerase II transcription, subunit 25, S.|cerevisiae, homolog of|610197|Fd, REc|||Charcot-Marie-Tooth disease, type 2B2, 605589 (3)| | ||
19.692|2|24|04|19q13.32-q13.33|NAPA, SNAPA|P|N-ethylmaleimide-sensitive factor attachment protein, alpha||603215|H, REc|||| | |7(hyh)|
19.693|3|3|98|19q13.32|NOVA3, ANOVA|P|Neurooncological ventral antigen 3||601991|REf|||| | ||
19.694|5|17|95|19q13.33|NR1H2, UNR|P|Nuclear receptor subfamily 1, group H, member 2|(ubiquitously-expressed nuclear receptor)|600380|A|||| | ||
19.695|10|3|09|19q13.33|NTF4 , NTF5, NT5, NT4, GLC1O|C|Neurotrophin-4 (neurotrophin-4/5)||162662|REa, A|3 genes, ? functional, also on 19||Glaucoma 1, open angle, 1O, 613100 (3)| | |7(Ntf5)|
19.696|8|24|09|19q13.33|PLA2G4C|P|Phospholipase A2, group IVC||603602|REc|||| | ||
19.697|4|10|96|19q13.32|PPP5C, PP5|P|Protein phosphatase-5, catalytic subunit||600658|Psh, A|||| | ||
19.698|8|24|09|19q13.32|PRKD2, PKD2|P|Protein kinase D2||607074|R, REc|||| | ||
19.699|6|13|95|19q13.32|PTGIR|P|Prostaglandin I2 (prostacyclin) receptor (IP)||600022|A, REa|||| | |7(Ptgir)|
19.700|2|28|03|19q13.32|RSHL1|P|Radial spokehead-like 1||607548|REc|||| | ||
19.701|3|29|12|19q13.32|RTN2, NSPL1, SPG12|P|Reticulon-2||603183|REc|||Spastic paraplegia 12, autosomal dominant, 604805 (3)| | ||
19.702|2|20|01|19q13.33|RUVBL2, TIP48, ECP51|C|RUVB, E. coli, homolog-like 2|(TATA box-binding protein-interacting protein)|604788|REn, R|||| | |7(Ruvbl2)|
19.703|5|30|03|19q13.33|SEPW1|P|Selenoprotein W, 1||603235|REc|||| | ||
19.704|10|20|99|19q13.41|SIGLEC5, CD33L2, OBBP2|C|Sialic acid-binding Ig-like lectin 5||604200|A, REa, R|||| | ||
19.705|2|7|01|19q13.41|SIGLEC6, CD33L, CD33L1, OBBP1|P|Sialic acid-binding immunoglobulin-like lectin 6||604405|A|||| | ||
19.706|2|1|00|19q13.41|SIGLEC7, AIRM1|P|Sialic acid-binding immunoglobulin-like lectin 7||604410|REa, REn|||| | ||
19.707|4|17|07|19q13.32|SIX5, DMAHP, BOR2|P|Sine oculis homeo box, Drosophila, homolog of, 5||600963|REn|||Branchiootorenal syndrome 2, 610896 (3)| | ||
19.708|7|9|90|19q13.33|SNRP70, U1RNP, RNPU1Z, RPU1|C|Small nuclear ribonucleoprotein 70kD polypeptide (RNP antigen)||180740|REa, A|||| | ||
19.709|6|4|99|19q13.32|SLC1A5, RDRC, M7V1, M7VS1|C|Solute carrier family 1 (neutral amino acid transporter), member 5|(receptor for RD114/simian type D retroviruses)|109190|A, Fd, R|||| | ||
19.710|2|25|98|19q13.32|SPK|P|Symplekin||602388|REc|||| | ||
19.711|8|18|99|19q13.33|SULT2A1, STD|C|Sulfotransferase family 2A, dehydroepiandrosterone-preferring, member|1 (DHEA sulfotransferase)|125263|A, Psh, Fd|||| | ||
19.712|8|17|99|19q13.33|SULT2B1|P|Sulfotransferase family 2B, member 1||604125|A, Psh|||| | ||
19.713|1|5|04|19q13.33|SYNGR4|P|Synaptogyrin 4||608373|REc|||| | ||
19.714|6|28|99|19q13.33|TEAD2, TEF4|P|TEA domain family member 2||601729|A, R|||| | ||
19.715|11|16|98|19p13.3|ZIPK|P|ZIP kinase||603289|Psh, R, A|||| | ||
19.716|12|5|13|19q13.33|BAX|C|BCL2-associated X protein||600040|REa, A, REc|||Colorectal cancer, 114500 (3);|T-cell acute lymphoblastic leukemia, 613065 (3) | |7(Bax)|
19.717|8|24|09|19q13.32|C5R1, C5AR|P|Complement component-5 receptor-2 (C5a ligand)||113995|REa, REc|||| | ||
19.718|4|25|93|19q13.41|CD33|C|CD33 antigen (gp67)||159590|REa, A|||| | ||
19.719|8|24|09|19q13.41|FPR2, FPRL1, FPRH1, LXA4R, HM63|P|Formyl peptide receptor 2||136538|REa, REc|||| | ||
19.720|8|24|09|19q13.41|FPR3, FPRL2, FPRH2|P|Formyl peptide receptor 3||136539|REa, REc|||| | ||
19.721|3|9|10|19q13.33|FTL, NBIA3|C|Ferritin, light chain||134790|S, A, REa, REb|||Hyperferritinemia-cataract syndrome, 600886 (3); Neurodegeneration|with brain iron accumulation 3, 606159 (3) | |7(Ftl1)|
19.722|6|28|99|19q13.41|HAS1|C|Hyaluronan synthase 1||601463|Psh, REc, A|||| | |17(Has1)|
19.723|12|28|08|19q13.33|IL4I1, FIG1|P|Interleukin 4-induced gene 1||609742|REn|||| | ||
19.724|8|11|91|19q13.42|IL11|P|Interleukin-11||147681|A|||| | ||
19.725|6|28|99|19q13.33|IRF3|P|Interferon regulatory factor 3||603734|Fd|||| | ||
19.726|5|2|06|19q13.33|KCNC3, SCA13|C|Potassium voltage-gated channel, Shaw-related subfamily, member 3||176264|REa, A, Fd|||Spinocerebellar ataxia 13, 605259 (3)| | |10(Kcnc3)|
19.727|9|9|13|19q13.33|POLD1, CRCS10, MDPL|C|Polymerase (DNA directed), delta 1, catalytic subunit||174761|Psh, REa, A|||{Colorectal cancer, susceptibility to, 10}, 612591 (3); Mandibular|hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)| |7(Pold1)|
19.728|3|3|10|19q13.42|PPP1R12C, MBS85|P|Protein phosphatase 1, regulatory subunit 12C||613245|REc|||| | ||
19.729|8|19|13|19q13.33|PTOV1, ACID2|P|Prostate tumor overexpressed gene 1||610195|A|||| | ||
19.730|8|27|02|19q13.33|SIGLEC11|P|Sialic acid-binding immunoglobulin-like lectin 11||607157|REc|pseudogene 8kb upstream||| | ||
19.731|5|6|03|19q13.33|SPIB|P|SPIB transcription factor||606802|A|||| | ||
19.732|10|15|94|19q13.41|ZNF83|P|Zinc finger protein-83||194558|A|||| | ||
19.733|6|19|00|19q13.41|ZNF137|P|Zinc finger protein-137||604079|A|||| | ||
19.734|3|27|95|19q13.41-q13.42|ZNF160|P|Zinc finger protein-160||600398|A|||| | ||
19.735|11|6|01|19q13.41|ZNF320|P|Zinc finger protein 320||606427|REc|||| | ||
19.736|6|20|01|19q13.42|ZNF331, ZNF463|P|Zinc finger protein-331||606043|A|||| | ||
19.737|8|24|09|19q13.33|RRAS|P|Oncogene RRAS||165090|REa, REc|||| | |7(Rras)|
19.738|12|21|09|19q13.31|C19orf61, SMG9|P|Chromosome 19 open reading frame 61||613176|REc|||| | ||
19.739|5|1|12|19q13.32|CEACAM16, CEAL2, DFNA4B|P|Carcinoembryonic antigen-related cell adhesion molecule 16||614591|REc|||Deafness, autosomal dominant 4B, 614614 (3)| | ||
19.740|3|23|09|19q13.31|TEX101, SGRG, TES101RP|P|Testis-expressed gene 101||612665|R, REc|||| | ||
19.741|9|2|08|19q13.33|BSPH1|P|Bovine seminal plasma protein-like 1||612213|REc|||| | |7(Bsph1)|
19.742|10|23|87|19q13.33|CGB|C|Chorionic gonadotropin, beta polypeptide||118860|REa, H, A|at least 5 genes||| | |7(Cgb)|
19.743|10|17|13|19q13.32|DHX34, KIAA0134|C|DEAH box polypeptide 34||615475|REc, R|||| | ||
19.744|2|10|04|19q13.31|ETHE1, HSCO, D83198|P|ETHE1 gene||608451|REc|||Ethylmalonic encephalopathy, 602473 (3)| | ||
19.745|8|24|09|19q13.32|GEMIN7|P|GEM-associated protein 7||607419|R, REc|||| | ||
19.746|7|23|13|19q13.32|IRF2BP1|P|Interferon regulatory factor 2-binding protein 1||615331|REc|||| | ||
19.747|2|9|92|19q13.33|LHB|C|Luteinizing hormone, beta polypeptide||152780|RE|beta chains of FSH, TSH on 11p, 1p, respectively||Hypogonadism, hypergonadotropic (3); ?Male pseudohermaphroditism|due to defective LH (1) | |7(Lhb)|
19.748|9|23|13|19q13.32|NANOS2, NOS2|P|Nanos, Drosophila, homolog of, 2||608228|REc|||| | ||
19.749|3|18|08|19q13.32|RELB, IREL|P|v-rel avian reticuloendotheliosis viral oncogene homolog B||604758|REc|||| | ||
19.750|3|15|10|19q13.32|SAE1, SUA1, AOS1|P|SUMO1-activating enzyme, subunit 1||613294|REc|||| | ||
19.751|2|1|11|19q13.32|SLC8A2, NCX2|P|Solute carrier family 8, member 2 (sodium-calcium exchanger 2)||601901|REc|||| | |7(Slc8a2)|
19.752|8|21|12|19q13.32|STRN4, ZIN|P|Striatin, calmodulin-binding protein 4||614767|REc, A|||| | ||
19.753|8|19|13|19q13.33|TPRX1|P|Tetrapeptide repeat homeobox 1||611166|REc|||| | ||
19.754|8|19|13|19q13.32|TRAPPC6A|P|Trafficking protein particle complex, subunit 6A||610396|R, REc|||| | |7(Trappc6a)|
19.755|6|7|10|19q13.33|TRPM4, PFHB1B|P|Transient receptor potential cation channel, subfamily M, member 4||606936|REc|||Progressive familial heart block, type IB, 604559 (3)| | ||
19.756|2|21|10|19q13.32|ZNF296, ZFP296, ZNF342|C|Zinc finger protein 296||613226|REc, R, H|||| | |7(Znf296)|
19.757|1|8|97|19q13.2|MIA|P|Melanoma inhibitory activity||601340|A|||| | ||
19.758|6|7|10|19q13.33|ALDH16A1|P|Aldehyde dehydrogenase 16 family, member A1||613358|REc|||| | ||
19.759|3|31|09|19q13.41|ATPBD3|P|ATP-binding domain protein 3||612694|REc|||| | ||
19.760|4|2|12|19q13.33|C19orf63, HSS1, HSM1|P|Chromosome 19 open reading frame 63||614545|REc|||| | ||
19.761|4|26|11|19q13.33|CABP5, CABP3|P|Calcium-binding protein 5||607316|A|||| | ||
19.762|9|16|12|19q13.33|CGB1|P|Chorionic gonadotropin, beta polypeptide 1||608823|REc|||| | ||
19.763|9|16|12|19q13.33|CGB7, CGB6|P|Chorionic gonadotropin, beta polypeptide 7||608826|REc|||| | ||
19.764|8|18|04|19q13.33|CPT1C|P|Carnitine palmitoyltransferase IC||608846|REc|||| | ||
19.765|8|24|09|19q13.33|DKKL1, SGY1, SGY|P|Dickkopf-like 1||605418|REc|||| | ||
19.766|6|13|12|19q13.33|ELSPBP1|P|Epididymal sperm binding protein 1||607443|REc|||| | ||
19.767|7|16|09|19q13.33|HSD17B14, DHRS10, RETSDR3|P|17-beta-hydroxysteroid dehydrogenase XIV||612832|REc|||| | ||
19.768|7|23|13|19q13.33|JOSD2|P|Josephin domain-containing protein 2||615324|REc|||| | ||
19.769|10|7|08|19q13.33|LIN7B, VELI2, MALS2|P|Lin7, C. elegans, homolog of, B||612331|REc|||| | ||
19.770|8|19|13|19q13.33|MAMSTR, MASTR|P|MEF2-activating SAP transcriptional regulator||610349|REc|||| | ||
19.771|6|10|09|19q13.41|MIR125A, MIRN125A|P|Micro RNA 125A||611191|REc|||| | ||
19.772|5|19|09|19q13.33|MIR150, MIRN150|P|Micro RNA 150||611114|REc|||| | ||
19.773|8|24|09|19q13.33|MYBPC2, MYBPCF|P|Myosin-binding protein C, fast type||160793|REa, REc|||| | ||
19.774|11|6|11|19q13.33|MYH14, KIAA2034, DFNA4A, PNMHH|C|Myosin, heavy chain 14, nonmuscle||608568|REc, Fd|||Deafness, autosomal dominant 4A, 600652 (3); Peripheral neuropathy,|myopathy, hoarseness, and hearing loss, 614369 (3) | |7(Myh14)|
19.775|2|19|04|19q13.33|NAPA, NAP1, SNAPA|P|Napsin A||605631|REc|||| | ||
19.776|8|21|07|19q13.33|NUP62, SNDI, IBSN|C|Nucleoporin, 62-kD||605815|R|||Striatonigral degeneration, infantile, 271930 (3)| | ||
19.777|10|13|09|19q13.33|PIH1D1, NOP17|P|PIH1 domain-containing protein 1||611480|R, REc|||| | ||
19.778|8|24|09|19q13.33|PLEKHA4, PEPP1|P|Pleckstrin homology domain-containing protein, family A, member 4||607769|REc|||| | ||
19.779|8|24|09|19q13.33|PPFIA3, LPNA3|P|Protein tyrosine phosphatase, receptor type, f polypeptide|(liprin-alpha-3)|603144|R, REc|||| | ||
19.780|10|4|05|19q13.33|RASIP1, RAIN|P|Ras-interacting protein 1||609623|REc|||| | ||
19.781|5|15|12|19q13.33|SHANK1, SSTRIP|P|SH3 and multiple ankyrin repeat domains 1||604999|REc|||| | ||
19.782|5|24|13|19q13.33|SLC6A16, NT5|P|Solute carrier family 6 (neurotransmitter transporter), member 16||607972|REc, R|||| | ||
19.783|3|2|06|19q13.33|SPACA4, SAMP14|P|Sperm acrosome-associated protein 4||609932|REc|||| | |7(Spaca4)|
19.784|1|27|04|19q13.33|TIP39|P|Tuberoinfundibular peptide of 39 amino acids||608386|REc|||| | ||
19.785|8|24|09|19q13.33|ZNF114|P|Zinc finger protein-114||603996|REc|||| | ||
19.786|3|23|06|19q13.42|MYADM|P|Myeloid-associated differentiation marker||609959|R|||| | ||
19.787|2|15|01|19q13.41|SIGLEC8, SAF2, SIGLEC8L|P|Sialic acid-binding immunoglobulin-like lectin 8||605639|A|||| | ||
19.788|7|17|01|19q13.42|BB1, LENG4|P|Breast and bladder cancer overexpressed gene 1||606048|REc|||| | ||
19.789|7|7|09|19q13.42|BRSK1, KIAA1811|P|BR serine/threonine kinase 1||609235|REc|||| | ||
19.790|5|1|02|19q13.42|CACNG6|P|Calcium channel, voltage-dependent, gamma-6 subunit||606898|REc|||| | ||
19.791|5|1|02|19q13.42|CACNG7|P|Calcium channel, voltage-dependent, gamma-7 subunit||606899|REc|||| | ||
19.792|5|1|02|19q13.42|CACNG8|P|Calcium channel, voltage-dependent, gamma-8 subunit||606900|REc|||| | ||
19.793|9|9|08|19q13.42|CNOT3, NOT3|P|CCR4-NOT transcription complex, subunit 3||604910|REc|||| | ||
19.794|5|9|12|19q13.42|DNAAF3, PF22, DAB1, CILD2|P|Dynein, axonemal, assembly factor 3||614566|REc|||Ciliary dyskinesia, primary, 2, 606763 (3)| | ||
19.795|1|9|13|19q13.42|EPS8L1, EPS8R1|P|EPS8-like protein 1||614987|REc|||| | |7(Eps8l1)|
19.796|7|12|92|19q13.42|FCAR|P|Fc fragment of IgA, receptor for||147045|REa, A|||| | ||
19.797|8|24|09|19q13.41|FPR1|C|Formyl peptide receptor-1||136537|REa|||| | ||
19.798|8|19|13|19q13.43|GALP, ALARIN|P|Galanin-like peptide (GALP precursor protein)||611178|REc|||| | ||
19.799|9|15|11|19q13.42|GP6, GPIV, BDPLT11|C|Glycoprotein VI, platelet||605546|Fd, R, REc|||Bleeding disorder, platelet-type, 11, 614201 (3)| | |7(Gp6)|
19.800|3|14|06|19q13.32|GPF77, C5L2|C|G protein-coupled receptor 77||609949|REc, REn|||| | ||
19.801|4|23|08|19q13.4|HPC15|P|Prostate cancer, hereditary, 15||611959|Fd|associated with rs2735839||{Prostate cancer, hereditary, 15} (2)| | ||
19.802|6|18|04|19q13.42|ILT11, CD85F, LIR9|P|Immunoglobulin-like transcript 11||606047|REn|||| | ||
19.803|5|12|00|19q13.42|KIR2DL1, NKAT1|P|Killer cell immunoglobulin-like receptor, two domains, long|cytoplasmic tail, 1|604936|REa, REc|||| | ||
19.804|4|23|03|19q13.42|KIR3DL1, NKAT3, NKB1, AMB11, KIR3DS1|P|Killer cell immunoglobulin-like receptor, three domains, long|cytoplasmic tail, 1|604946|REa, REc|||{AIDS, delayed/rapid progression to}, 609423 (3)| | ||
19.805|5|12|00|19q13.42|KIR2DL3, NKAT2|P|Killer cell immunoglobulin-like receptor, two domains, long|cytoplasmic tail, 3|604938|REa, REc|||| | ||
19.806|5|12|00|19q13.42|KIR2DL4, KIR103AS|P|Killer cell immunoglobulin-like receptor, two domains, long|cytoplasmic tail, 4|604945|REa, REc|||| | ||
19.807|5|12|00|19q13.4|KIR2DS1|P|Killer cell immunoglobulin-like receptor, two domains, short|cytoplasmic tail, 1|604952|REc|||| | ||
19.808|5|12|00|19q13.42|KIR2DS4, NKAT8|P|Killer cell immunoglobulin-like receptor, two domains, short|cytoplasmic tail, 4|604955|REa, REc|||| | ||
19.809|5|12|00|19q13.42|KIR3DL2, NKAT4|P|Killer cell immunoglobulin-like receptor, three domains, long|cytoplasmic tail, 2|604947|REc|||| | ||
19.810|8|24|09|19q13.4|KIR2DL2, NKAT6|P|Killer cell immunoglobulin-like receptor, two domains, long|cytoplasmic tail, 2|604937|REa, REc|||| | ||
19.811|8|24|09|19q13.4|KIR2DS2, NKAT5|P|Killer cell immunoglobulin-like receptor, two domains, short|cytoplasmic tail, 2|604953|R, REc|||| | ||
19.812|8|24|09|19q13.4|KIR2DS3, NKAT7|P|Killer cell immunoglobulin-like receptor, two domains, short|cytoplasmic tail, 3|604954|R, REc|||| | ||
19.813|8|19|13|19q13.42|KIR3KL3, KIRC1, KIR3DL7, KIR44|P|Killer cell immunoglobulin-like receptor, three domains, long|cytoplasmic tail, 3|610095|REc|||| | ||
19.814|11|30|06|19q13.33|KLK1, KLKR|C|Kallikrein 1||147910|REa, A, Fd|~10cM distal to APOC2||[Kallikrein, decreased urinary activity of] (3)| | |7(Kal)|
19.815|11|30|06|19q13.33|KLK2|C|Kallikrein-related peptidase 2||147960|REa, RE|12kb from APS||| | ||
19.816|11|30|06|19q13.42|KIR3DP1, CD158C, KIRX, KIR48, KIR2DS6|P|Killer cell immunoglobulin-like receptor, three domains,|pseudogene|610604|REc|functional in some individuals||| | ||
19.817|5|12|99|19q13.33|KLK3, APS, PSA|C|Kallikrein-related peptidase 3||176820|REa, RE, A|probably with cluster KLK1, KLK2||| | |7(Aps)|
19.818|8|4|09|19q13.41|KLK4, EMSP1, PRSS17, AI2A1|C|Kallikrein-related peptidase 4||603767|Psh, A|||Amelogenesis imperfecta, type IIA1, 204700 (3)| | ||
19.819|2|15|01|19q13.41|KLK5, SCTE, KLKL2|C|Kallidrein-related peptidase 5||605643|REc, REn|||| | ||
19.820|2|15|01|19q13.41|KLK8, TADG14, PRSS19|P|Kallikrein-related peptidase 8||605644|REn|||| | ||
19.821|11|30|06|19q13.41|KLK11, PRSS20, TLSP|C|Kallikrein-related peptidase 11||604434|REn|||| | ||
19.822|11|30|06|19q13.41|KLK12, KLKL5|C|Kallikrein-related peptidase 12||605539|REn|||| | ||
19.823|11|30|06|19q13.41|KLK13, KLKL4|C|Kallikrein-related peptidase 13||605505|REc|||| | ||
19.824|11|30|06|19q13.41|KLK6, PRSS9, ZYME|C|Kallikrein-related peptidase 6||602652|Psh, A|||| | ||
19.825|11|30|06|19q13.41|KLK9, KLKL3|C|Kallikrein-related peptidase 9||605504|REc, REn|||| | ||
19.826|11|30|06|19q13.41|KLK14|C|Kallikrein-related peptidase 14||606135|REc|||| | ||
19.827|11|30|06|19q13.41|KLK10, PRSSL1, NES1|C|Kallikrein-related peptidase 10||602673|A, REn|||| | ||
19.828|11|30|06|19q13.33|KLK15|C|Kallikrein-related peptidase 15||610601|REc|||| | ||
19.829|12|15|98|19q13.42|LAIR1|P|Leukocyte-associated immunoglobulin-like receptor 1||602992|A|||| | ||
19.830|8|21|00|19q13.42|LILRA2, LIR7, ILT1|C|Leukocyte immunoglobulin-like receptor, subfamily A, member 2||604812|R|||| | ||
19.831|8|21|00|19q13.42|LILRB1, LIR1, ILT2, MIR7, CD85|C|Leukocyte immunoglobulin-like receptor, subfamily B, member 1||604811|R|||| | ||
19.832|8|21|00|19q13.42|LILRB2, LIR2, ILT4, MIR10|C|Leukocyte immunoglobulin-like receptor, subfamily B, member 2||604815|R, A|||| | ||
19.833|8|21|00|19q13.42|LILRB3, LIR3, ILT5, HL9|C|Leukocyte immunoglobulin-like receptor, subfamily B, member 3||604820|R|||| | ||
19.834|8|21|00|19q13.42|LILRB4, LIR5, ILT3, HM18|C|Leukocyte immunoglobulin-like receptor, subfamily B, member 4||604821|R, A|||| | ||
19.835|8|21|00|19q13.42|LILRA3, LIR4, ILT6, HM43|C|Leukocyte immunoglobulin-like receptor, subfamily A, member 3||604818|R|||| | ||
19.836|8|6|13|19q13.41|LIM2, MP19, CTRCT19|C|Lens intrinsic protein 2, 19kD||154045|REc, REa, A|same cosmid as ETFB||Cataract 19, 615277 (3)| | |7(Lim2)|
19.837|7|7|09|19q13.4|MENOQ2|P|Menopause, natural, age at, QTL2||612884|Fd|associated with rs1172822, rs2384687, rs1551562, rs897798||{Menopause, natural, age at, QTL2} (2)| | ||
19.838|5|16|05|19q13.42|NALP2, PAN1, PYPAF2|P|NACHT-, leucine-rich repeat-, and PYD-containing 2||609364|REc|||| | ||
19.839|3|7|06|19q13.43|NALP4, PAN2, PYPAF4|C|NACHT domain-, leucine-rich repeat-c and PYD-containing protein 4||609645|REc|||| | ||
19.840|3|7|06|19q13.42|NALP7, NOD12, PYPAF3, HYDM|C|NACHT domain-, leucine-rich repeat-, and PYD-containing protein 7||609661|Fd, REc|||Hydatidiform mole, 231090 (3)| | ||
19.841|3|7|06|19q13.43|NALP8, NOD16, PAN4|P|NACHT domain-, leucine-rich repeat-, and PYD-containing protein 8||609659|REc|||| | ||
19.842|4|17|13|19q13.42|NLRP12, NALP12, PYPAF7, RNO, FCAS2|C|NLR family, pyrin domain containing 12||609648|REc|||Familial cold autoinflammatory syndrome 2, 611762 (3)| | ||
19.843|3|7|06|19q13.42|NALP9, NOD6|P|NACHT domain-, leucine-rich repeat-, and PYD-containing protein 9||609663|REc|||| | ||
19.844|3|7|06|19q13.42-q13.43|NALP11, PYPAF7, NOD17|P|NACHT domain-, leucine-rich repeat-, and PYD-containing protein 11||609664|REc|||| | ||
19.845|3|7|06|19q13.43|NALP13, NOD14|P|NACHT domain-, leucine-rich repeat-, and PYD-containing protein 13||609660|REc|||| | ||
19.846|4|18|02|19q13.42|OSCAR|P|Osteoclast-associated receptor||606862|REc|||| | |7(Oscar)|
19.847|8|5|97|19q13.43|PEG3|P|Paternally expressed gene 3||601483|REc|||| | |7(Peg3)|
19.848|7|26|10|19q13.33|PNKP, PNK, MCSZ, EIEE10|C|Polynucleotide kinase 3' phosphatase||605610|A|||Epileptic encephalopathy, early infantile, 10, 613402 (3)| | ||
19.849|5|7|01|19q13.41|PPP2R1A|P|Protein phosphatase 2, structural/regulatory subunit A, alpha||605983|REc|||| | ||
19.850|4|23|03|19q13.42|PRKCG, PKCC, PKCG, SCA14|C|Protein kinase C, gamma polypeptide||176980|REa, A, Fd|||Spinocerebellar ataxia 14, 605361 (3)| | |7(Pkcc)|
19.851|10|30|01|19q13.42|PRPF31, PRP31, RP11|P|Precursor RNA-processing factor 31, S. cerevisiae, homolog of||606419|REc|||Retinitis pigmentosa 11, 600138 (3)| | ||
19.852|4|15|98|19q13.42|PTPRH|P|Protein tyrosine phosphatase, receptor type, H||602510|A|||| | ||
19.853|2|17|09|19q13.42|RFPL4A, RNF210|P|Ret finger protein-like 4A||612601|REc|||| | |7(Rfpl4a)|
19.854|11|15|08|19q13.42|TSEN34, PCH2C, LENG5, SEN34|P|tRNA splicing endonuclease 34, S. cerevisiae, homolog of||608754|REc, Fd|||Pontocerebellar hypoplasia type 2C, 612390 (3)| | ||
19.855|6|19|00|19q13.43|ZNF132|P|Zinc finger protein-132||604074|A|||| | ||
19.856|6|28|99|19q13.42|RPL28|P|Ribosomal protein L28||603638|RE, R|||| | ||
19.857|6|28|99|19q13.43|RPS5|P|Ribosomal protein S5||603630|RE, R|||| | ||
19.858|6|28|99|19q13.42|RPS9|P|Ribosomal protein S9||603631|RE, R|||| | ||
19.859|2|15|01|19q13.41|SIGLEC9|P|Sialic acid-binding immunoglobulin-like lectin 9||605640|REc|||| | ||
19.860|6|8|09|19q13.41|SIGLEC10|C|Sialic acid-binding immunoglobulin-like lectin 10||606091|REc|||| | ||
19.861|9|21|11|19q13.41|SIGLEC12, SIGLECL1, S2V, SLG|P|Sialic acid-binding immunoglobulin-like lectin 12||606094|REc|||| | ||
19.862|2|20|08|19q13.42|TNNI3, CMH7, CMD2A, RCM1, CMD1FF|C|Troponin-I, cardiac||191044|REa, R|||Cardiomyopathy, familial hypertrophic, 7, 613690 (3); Cardiomyopathy,|familial restrictive, 115210 (3); Cardiomyopathy, dilated, 2A, 611880 (3); Cardiomyopathy, dilated, 1FF, 613286 (3)| |7(Tnni3)|
19.863|8|2|13|19q13.42|TNNT1, ANM, NEM5|C|Troponin-T1, skeletal, slow||191041|REa, Psh, A|||Nemaline myopathy 5, Amish type, 605355 (3)| | ||
19.864|4|4|01|19q13.42|TTYH1|P|Tweety, Drosophila, homolog of, 1||605784|A, R|||| | ||
19.865|3|14|03|19q13.43|VN1R1, V1RL1|P|Vomeronasal 1 receptor 1||605234|R|||| | ||
19.866|9|2|10|19q13.43|ZNF71|P|Zinc finger protein-71 (Cos26)||194545|REc|previously assigned to 22q11.2||| | ||
19.867|6|19|00|19q13.43|ZNF134|P|Zinc finger protein-134||604076|A|||| | ||
19.868|6|19|00|19q13.43|ZNF135|P|Zinc finger protein-135||604077||||| | ||
19.869|6|19|00|19q13.43|ZNF154|P|Zinc finger protein-154||604085|A|||| | ||
19.870|10|4|99|19q13.41|ZNF175, OTK18|P|Zinc finger protein-175||601139|A|||| | ||
19.871|8|24|09|19q13.43|ZNF264|P|Zinc finger protein-264||604668|R, REc|||| | ||
19.872|5|10|04|19q13.43|ZNF272, HZF8, ZNF460|P|Zinc finger protein-272||604755|REc|||| | ||
19.873|8|24|09|19q13.43|ZNF274|P|Zinc finger protein-274||605467|R, REa, REc|||| | ||
19.874|5|10|04|19q13.12|ZNF461, GIOT1|P|Zinc finger protein-461||608640|REc|||| | ||
19.875|12|29|06|19q13.42|ZNF628, ZEC|P|Zinc finger protein 628||610671|REc|||| | ||
19.876|8|20|07|19q13.43|ZNF667, MIPU1|P|Zinc finger protein 667||611024|REc|||| | ||
19.877|6|12|97|19q13.43|ZNFC25|P|Zinc finger protein-C2H2-25||601856|Psh, REc|||| | ||
19.878|4|20|11|19q13.4-qter|AAVS1|P|Adeno-associated virus integration site-1||102699|REa, A|||| | ||
19.879|11|25|13|19q13.41|LKL7, PRSS6, SCCE|P|Kallikrein-related peptidase 7||604438|REc|||| | ||
19.880|8|19|13|19q13.41|MIRLET7E, LET7E|P|Micro RNA Let7e||611250|REc|||| | ||
19.881|3|29|12|19q13.41|MIR99B|P|Micro RNA 99B||614510|REc|||| | ||
19.882|3|23|09|19q13.42|MIR371, MIRN371|P|Micro RNA 371||612043|REc|||| | ||
19.883|3|23|09|19q13.42|MIR372, MIRN372|P|Micro RNA 372||612044|REc|||| | ||
19.884|3|23|09|19q13.42|MIR373, MIRN373|P|Micro RNA 373||611954|REc|||| | ||
19.885|5|16|11|19q13.41|ZNF480|P|Zinc finger protein 480||613910|REc|||| | ||
19.886|12|26|13|19q13.41|ZNF528, KIAA1827|P|Zinc finger protein 528||615580|REc|||| | ||
19.887|3|20|08|19q13.41|ZNF649|P|Zinc finger protein 649||611903|R, REc|||| | ||
19.888|9|29|10|19q13.42|CCDC106|P|Coiled-coil domain-containing protein 106||613478|REc|||| | ||
19.889|8|19|13|19q13.42|DPRX|P|Divergent-paired related homeobox||611165|REc|many pseudogenes||| | ||
19.890|8|19|13|19q13.43|DUXA|P|Double homeobox A||611168|REc|many pseudogenes||| | ||
19.891|8|17|09|19q13.42|HSPBP1|P|Heat-shock 70kD protein-binding protein 1||612939|REc|||| | ||
19.892|8|17|09|19q13.42|ISOC2|P|Isochorismatase domain-containing 2||612928|REc|||| | ||
19.893|9|24|11|19q13.42|MIR519D, MIRN519D|P|Micro RNA 519D||614247|REc|||| | ||
19.894|9|2|12|19q13.42|MIR520H|P|Micro RNA 520H||614755|REc|||| | ||
19.895|8|24|09|19q13.42|NCR1, LY94, NKP46|P|Natural cytotoxicity triggering receptor 1|(lymphocyte antigen 94, mouse, homolog of)|604530|REa, REc|||| | ||
19.896|5|25|13|19q13.42|NDUFA3|P|NADH-ubiquinone oxidoreductase 1 alpha subcomplex, 3||603832|REc|||| | ||
19.897|3|29|07|19q13.42|SAPS1, PP6R1, KIAA1115|P|SAPS domain family, member 1||610875|R, REc|||| | ||
19.898|12|29|09|19q13.42|SUV420H2|P|Suppressor of variegation 4-20, Drosophila, homolog of, 2||613198|REc|||| | ||
19.899|2|1|11|19q13.42|SYT5|P|Synaptotagmin-5||600782|REc|||| | |7(Syt5)|
19.900|3|1|07|19q13.42|UBE2S, EPF5, E2EPF|P|Ubiquitin-conjugating enzyme E2S||610309|REc, R|||| | ||
19.901|8|24|09|19q13.43|SLC27A5, FATP5, VLACSR, VLCSH2|P|Solute carrier family 27 (fatty acid transporter), member 5||603314|R, REc|||| | ||
19.902|11|3|11|19q13.43|STK13, AIE2, SPGF5|C|Serine/threonine kinase 13, aurora/Ipl1-like||603495|RE, A, R|||Spermatogenic failure 5, 243060 (3)| | ||
19.903|6|13|12|19q13.43|UBE2M, UBC12|P|Ubiquitin-conjugating enzyme E2M||603173|REc|||| | ||
19.904|1|13|11|19q13.43|ZNF8|P|Zinc finger protein-8||194532|REc|previously assigned to 20q13||| | ||
19.905|3|28|11|19q13.43|ZNF304|P|Zinc finger protein 304||613840|REc|||| | ||
19.906|8|24|09|19q13.43|ZNF444, EZF2|P|Zinc finger protein 444||607874|R, REc|||| | ||
19.907|1|7|14|19q13.43|ZNF582|P|Zinc finger protein 582||615600|REc|||| | ||
19.908|5|16|11|19q13.43|ZNF606, ZNF328, KIAA1852|P|Zinc finger protein 606||613905|REc|||| | ||
19.909|7|26|10|19q13.43|ZSCAN4, ZNF494|P|Zinc finger- and SCAN domain-containing protein 4||613419|REc, H|||| | |7(Zscan4)|
19.910|8|24|09|19q13.43|ZSCAN22, HKR2|P|Zinc finger- and SCAN domain-containing protein 22||165260|REa|||| | ||
19.911|6|19|00|Chr.19|ZNF97|P|Zinc finger protein-97||603979|REc|||| | ||
20.1|8|23|01|20q11.22|NFS1, NIFS|P|Nitrogen fixation gene 1||603485|R|||| | ||
20.2|5|13|93|20p12.3|CHGB, SCG1|C|Chromogranin B (secretogranin B)||118920|REa, A, H|||| | |2(Scg1)|
20.3|10|28|99|20p13|PRND, DPL|P|Prion gene complex, downstream (doppel)||604263|REc|||| | |2(Prnd)|
20.4|11|27|13|20p13|PRNP, PRIP, KURU, CJD|C|Prion protein (p27-30)||176640|REa, REb, A|pter-PRNP-SCG1-BMP2A-PAX1-cen||Creutzfeldt-Jakob disease, 123400 (3); Gerstmann-Straussler disease,|137440 (3); Insomnia, fatal familial, 600072 (3); Prion disease with protracted course, 606688 (3); Huntington disease-like 1, 603218 (3);|{Kuru, susceptibility to}, 245300 (3); Cerebral amyloid angiopathy, PRNP-related, 137440 (3)|2(Prnp)|
20.5|10|8|08|20pter-p11.2|BMIQ6|P|Body mass index quantitative trait locus 6||608559|Fd|near D20S482 and D20S851||[Body mass index QTL6] (2)| | ||
20.6|9|3|02|20p13|ADAM33|P|A disintegrin and metalloproteinase domain 33||607114|REc|||| | ||
20.7|8|26|09|20p13|ADRA1D, ADRA1A|C|Adrenergic, alpha-1D-, receptor||104219|A|incorrectly assigned to 5q||| | |11(Adra1a)|same as ADRA1D?
20.8|4|23|04|20p13|ALS7|P|Amyotrophic lateral sclerosis 7||608031|Fd|max lod at D20S103||Amyotrophic lateral sclerosis 7 (2)| | ||
20.9|6|28|99|20p13|ANGPT4, ANG4|P|Angiopoietin 4||603705|A|no ANGT3 in human||| | |2(Angpt3)|
20.10|9|18|12|20p13|AP5S1, C20orf29|P|Adaptor-related protein complex 5, sigma-1 subunit||614824|REc|||| | ||
20.11|8|14|00|20p13|ATRN, MGCA|P|Attractin (mahogany, mouse, homolog of)||603130|REc|||| | |2(Atrn)|
20.12|4|25|93|20p13|AVP, AVRP, VP|C|Arginine vasopressin (neurophysin II, antidiuretic hormone)||192340|REa, RE, Fd|distal 20p||Diabetes insipidus, neurohypophyseal, 125700 (3)| | |2(Avp)|
20.13|12|29|06|20p13|C20orf28, CLAMP, SPEF1|P|Sperm flagellar protein 1||610674|REc|||| | |2(Spef1)|
20.14|8|5|11|20p13|C20orf194|P|Chromosome 20 open reading frame 194||614146|REc|||| | ||
20.15|11|4|93|20p13|CDC25B|C|Cell division cycle 25B||116949|REa, A, Psh|||| | ||
20.16|6|15|99|20p12.3|CDS2|C|CDP-diacylglycerol synthase 2||603549|R, A, H|||| | |2(Cds2)|
20.17|1|12|95|20p13|CENPB|C|Centromeric protein B||117140|REa, A|||| | ||
20.18|10|23|92|20p13|CSNK2A1, CK2A1|C|Casein kinase-2, alpha-1 polypeptide||115440|REa, A|pseudogene on 11p15||| | ||
20.19|3|22|06|20p13|EBF4, KIAA1442|P|Early B-cell factor 4||609935|R, REc|||| | ||
20.20|10|5|11|20p13|FASTKD5|P|Fast kinase domain-containing protein 5||614272|REc|||| | ||
20.21|4|25|93|20p13|FKBP1A, FKBP12|C|FK506-binding protein-1A, 12kD||186945|Psh, A|||| | ||
20.22|2|18|98|20p13|GNRH2|P|Gonadotropin-releasing hormone-2||602352|A|||| | ||
20.23|1|16|07|20p13|HSPA12B|P|Heat-shock 70kD protein 12B||610702|REc|||| | |2(Hspa12b)|
20.24|5|4|12|20p13|IDH3B, RP46|P|Isocitrate dehydrogenase 3, beta subunit||604526|R, A|||Retinitis pigmentosa 46, 612572 (3)| | ||
20.25|7|17|03|20p12.3|KIND1, URP1, C20orf42|C|Kindlin 1||607900|REc, Fd|||Kindler syndrome, 173650 (3)| | ||
20.26|10|12|09|20p13|MAVS, VISA, IPS1, MAVS, CARDIF, KIAA1271|P|Mitochondrial antiviral signaling protein||609676|R, REc|||| | ||
20.27|12|21|09|20p13|MIR103-2, MIRN103-2|P|Micro RNA 103-2||613188|REc|||| | ||
20.28|8|9|11|20p13|MIR1292, MIRN1292|P|Micro RNA 1292||614155|REc|||| | ||
20.29|4|24|08|20p13|MRPS26, MRPS13|P|Mitochondrial ribosomal protein S26||611988|R, REc|||| | ||
20.30|9|6|11|20p13|NOP56, SCA36|P|Nop56, S. cerevisiae, homolog of||614154|REc|||Spinocerebellar ataxia 36, 614153 (3)| | ||
20.31|12|29|06|20p13|NRSN2|P|Neurensin 2||610666|REc|||| | ||
20.32|4|25|93|20p13|OXT|C|Oxytocin-neurophysin I||167050|RE, Fd, A|12kb from ARVP||| | |2(Oxt)|
20.33|12|21|10|20p13|PDYN, SCA23|C|Prodynorphin||131340|REa, A, Fd|||Spinocerebellar ataxia 23, 610245 (3)| | ||
20.34|9|28|12|20p12.3|PROKR2, PKR2, GPR73L1, HH3|P|Prokineticin receptor 2||607123|REc|||Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)| | ||
20.35|7|11|11|20p13|PROSAPIP1, KIAA0552|P|Proline-rich synapse-associated protein-interacting protein 1||610484|R, REc|||| | ||
20.36|8|17|92|20p13|PTPRA, PTPA, PTPRL2, LRP|C|Protein tyrosine phosphatase, receptor type, alpha polypeptide||176884|REa, A|||| | |2(Ptpa)|
20.37|4|18|07|20p13|RBCK1, HOIL1|P|RANBP-type and C3HC4-type zinc finger-containing 1||610924|R, REc|||| | ||
20.38|8|8|08|20p13|RLS5|P|Restless legs syndrome, susceptibility to, 5||611242|Fd|max lod at D20S849||{Restless legs syndrome 5} (2)| | ||
20.39|6|25|07|20p13|RSPO4, CRISTIN4|P|R-spondin family, member 4||610573|REc|||Anonychia congenita, 206800 (3)| | |2(Rspo4)|
20.40|2|15|06|20p13|SIRPG, SIRPB2|P|Signal regulatory protein, gamma||605466|Psh, R|||| | ||
20.41|10|17|95|20p13|SN|P|Sialoadhesin||600751|REa, A|||| | |2(Sn)|
20.42|8|8|13|20p13|SNRPB|P|Small nuclear ribonucleoprotein polypeptides B and B1||182282|REc|||| | ||
20.43|8|29|02|20p13|SOX12, SOX22|P|SRY (sex-determining region Y)-box 12||601947|A|||| | ||
20.44|7|13|98|20p13|SHPS1|P|SHP substrate-1||602461|A|||| | |2(Shps1)|
20.45|1|20|06|20p11.23|SLC24A3, NCKX3|P|Solute carrier family 24 (sodium/potassium/calcium exchanger),|member 3|609839|REc|||| | ||
20.46|7|11|12|20p13|SLC52A3, C20orf54, RFT2, BVVLS1|P|Solute carrier family 52, riboflavin transporter, member 3||613350|REc|||Brown-Vialetto-Van Laere syndrome 1, 211530 (3); Fazio-Londe disease,|211500 (3) | ||
20.47|12|7|07|20p13|SNPH|P|Syntaphilin||604942|R, REc|||| | ||
20.48|5|16|05|20p13|STK35, CLIK1|P|Serine/threonine kinase 35||609370|REn|||| | ||
20.49|12|17|07|20p13|TBC1D20, C20orf140|P|TBC1 domain family, member 20||611663|REc|||| | ||
20.50|2|18|96|20p13|TCF15|P|Transcription factor-15 (basic helix-loop-helix)||601010|A|||| | |2(Meso1)|
20.51|2|26|02|20p13|TMC2|P|Transmembrane channel-like protein 2||606707|REc|||| | ||
20.52|10|5|10|20p12.3|CRLS1, GCD10, C20orf155|P|Cardiolipin synthase 1||608188|REc|||| | ||
20.53|10|29|03|20p12.3|MCM8|C|Minichromosome maintenance, S. cerevisiae, homolog of, 8||608187|REc|||| | ||
20.54|3|9|10|20p13|PANK2, NBIA1, PKAN, HARP|P|Pantothenate kinase 2||606157|LD, Fd|||Neurodegeneration with brain iron accumulation 1, 234200 (3);|HARP syndrome, 607236 (3) | ||
20.55|7|22|11|20p13|TGM6, TG6, TGY, SCA35|P|Transglutaminase 6||613900|REc|||Spinocerebellar ataxia 35, 613908 (3)| | |2(Tgm6)|
20.56|12|24|08|20p13|RNF24, G1L|P|Ring finger protein 24||612489|REc|||| | ||
20.57|5|1|12|20p13|SLC4A11, BTR1, NABC1, CHED2, CDPD, FECD4|C|Solute carrier family 4 (sodium borate cotransporter), member 11||610206|REc, Fd|||Corneal endothelial dystrophy 2, autosomal recessive, 217700 (3);|Corneal endothelial dystrophy and perceptive deafness, 217400 (3); Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)| ||
20.58|8|26|09|20p13|SLC23A2, SVCT2|C|Solute carrier family 23 (nucleobase transporters), member 2|(sodium-dependent vitamin C transporter 2)|603791|R, REc|||| | ||
20.59|1|22|08|20p12.3|BMND7|P|Bone mineral density QTL 7||611738|Fd|most significant association with haplotype C||{Osteoporosis}, 166710 (2)| | ||
20.60|2|23|09|20p12.3|CRCS11|P|Colorectal cancer, susceptibility to, 11||612592|Fd|associated with rs961253||{Colorectal cancer, susceptibility to, 11} (2)| | ||
20.61|7|27|11|20p12.3|GPCPD1, GDE5, KIAA1434|P|Glycerophosphocholine phosphodiesterase GDE1, S. cerevisiae, homolog|of|614124|REc|||| | ||
20.62|7|7|09|20p12.3|MENOQ3|P|Menopause, natural, age at, QTL3||612885|Fd|associated with rs16991615||{Menopause, natural, age at, QTL3} (2)| | ||
20.63|9|10|07|20p12.1|SPTLC3, SPTLC2L|P|Serine palmitoyltransferase, long-chain base subunit 3||611120|REc|||| | ||
20.64|12|27|13|20p12.2|BTBD3, KIAA0952|P|BTB/POZ domain-containing protein 3||615566|REc|||| | ||
20.65|6|1|12|20p12.2|LAMP5, BADLAMP|P|Lysosome-associated membrane protein 5||614641|REc|||| | ||
20.66|9|11|08|20p12.1|DSTN, ADF|P|Destrin||609114|R, REc|||| | ||
20.67|12|17|12|20p12.1|NDUFAF5, C20orf7|P|NADH dehydrongenase (ubiquinone) complex I, assembly factor T||612360|REc|||Mitochondrial complex 1 deficiency, 252010 (3)| | ||
20.68|10|18|11|20p12.1|SEL1L2|P|Suppressor of Lin12-like 2||614289|REc|||| | ||
20.69|5|25|13|20p12.1|SNRPB2|P|Small nuclear ribonucleoprotein polypeptide B-double prime||603520|REc|||| | ||
20.70|3|22|07|20p12.1|TASP1, C20orf13|P|Threonine aspartase 1||608270|REc|||| | ||
20.71|7|23|13|20p12.1|BFSP1, CP115, CTRCT33|P|Beaded filament structural protein-1 (filensin)||603307|A|||Cataract 33, 611391 (3)| | ||
20.72|10|10|11|20p12.3|BMP2, BMP2A, BDA2|C|Bone morphogenetic protein-2||112261|H, REa, A|||{HFE hemochromatosis, modifier of}, 235200 (3); Brachydactyly,|type A2, 112600 (3) | |2(Bmp2a)|
20.73|8|29|05|20p12|GLC1K, JOAG3|P|Glaucoma 1K, primary open angle, juvenile-onset||608696|Fd|between D20S189 and D20S104||Glaucoma 1K, primary open angle, juvenile-onset (2)| | ||
20.74|2|1|01|20p12.3|HAO1, GOX1|C|Hydroxyacid oxidase 1||605023|R, REc|||| | ||
20.75|8|20|02|20p12.2|JAG1, AGS, AHD|C|Jagged 1||601920|Ch, D, Fd, A, REc|||Alagille syndrome, 118450 (3); Tetralogy of Fallot, 187500 (3);|Deafness, congenital heart defects, and posterior embryotoxon (3) | ||
20.76|2|23|08|20p12.1|MACROD2, C2orf133|P|Macro domain-containing 2||611567|REc|||| | ||
20.77|9|7|00|20p12.2|MKKS, HMCS, KMS, MKS, BBS6|C|McKusick-Kaufman syndrome gene||604896|Fd|||McKusick-Kaufman syndrome, 236700 (3); Bardet-Biedl syndrome 6,|209900 (3) | ||
20.78|8|21|91|20p13-p12|PCNA|C|Proliferating cell nuclear antigen||176740|REa, A|pseudogenes on X and 6||| | ||
20.79|2|11|11|20p12.3|PLCB1, KIAA0581, PLCB1A, PLCB1B, EIEE12|C|Phospholipase C, beta-1||607120|A, Psh|||Epileptic encephalopathy, early infantile, 12, 613722 (3)| | ||
20.80|6|4|12|20p12.3-p12.2|PLCB4, ARCND2|P|Phospholipase C, beta 4||600810|Psh, A|||Auriculocondylar syndrome 2, 614669 (3)| | ||
20.81|5|31|06|20p12|SLEB7|P|Systemic lupus erythematosus, susceptibility to, 7||610065|Fd|||{Systemic lupus erythematosus, susceptibility to, 7} (2)| | ||
20.82|8|27|01|20p11.21|NXT1, MTR2|P|NTF2-related export protein 1||605811|REc|||| | ||
20.83|5|19|98|20p12.1|RRBP1, ES130|P|Ribosome binding protein-1||601418|A|||| | ||
20.84|1|9|13|20p11.23|LINC00237|P|Long intergenic noncoding RNA 237||614992|A|||| | ||
20.85|2|21|13|20p11.23|MGME1, C20orf72, MTDPS11|P|Mitochondrial genome maintenance exonuclease 1||615076|REc|||Mitochondrial DNA depletion syndrome 11, 615084 (3)| | ||
20.86|8|21|12|20p11.23|PET117|P|PET117, S. cerevisiae, homolog of||614771|REc|||| | ||
20.87|12|1|11|20p11.21|ACSS1, ACECS1|P|Acyl-CoA synthetase short-chain family, member 1||614355|REc|||| | ||
20.88|12|18|08|20p11.22|AGA3|P|Alopecia, androgenetic, 3||612421|Fd|associated with rs1160312||Alopecia, androgenetic, 3 (2)| | ||
20.89|10|12|09|20p11.23|RIN2, MACS|P|RAS and RAB interactor 2||610222|R, REc|||Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)| | ||
20.90|5|21|07|20p11.23|CRNKL1, CRN|C|Crooked neck pre-mRNA splicing factor-like 1||610952|REc, A|||| | ||
20.91|4|15|98|20p11.21|CST1|P|Cystatin SN||123855|A|||| | ||
20.92|4|15|98|20p11.21|CST2|C|Cystatin SA||123856|REa, A|||| | ||
20.93|4|23|08|20p11.21|CST3, ARMD11|C|Cystatin C||604312|REa, A|proximal to 20p11.2||Cerebral amyloid angiopathy, 105150 (3); Macular degeneration,|age-related, 11, 611953 (3) | |2(Cst3)|
20.94|4|15|98|20p11.21|CST4|P|Cystatin S||123857|A|||| | ||
20.95|1|27|11|20p11.21|ABHD12, PHARC|P|Abhydrolase domain-containing protein 12||613599|REc, Fd|||Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and|cataract, 612674 (3) | ||
20.96|8|8|13|20p11.21|C1QR1, CD93, C1QR|P|Complement component 1, q subcomponent, receptor 1||120577|REc|||| | ||
20.97|3|31|97|20p11.21|CST5|P|Cystatin D||123858|A|||| | ||
20.98|11|28|05|20p11.21|CST11, CST8L|P|Cystatin 11||609731|REc|||| | ||
20.99|11|30|06|20p11.21|GINS1, PSF1, KIAA0186|P|GINS complex subunit 1||610608|R, REc|||| | ||
20.100|3|31|11|20p11.21|GZF1, ZNF336|P|GDNF-inducible zinc finger protein 1||613842|REc|||| | |2(Gzf1)|
20.101|8|19|13|20p11.21|NAPB, SNAPB|P|N-ethylmaleimide-sensitive factor attachment protein, beta||611270|REc, R|||| | ||
20.102|10|25|11|20p11.21|SYNDIG1, TMEM90B|P|Synapse differentiation-induced gene 1||614311|REc|||| | ||
20.103|8|9|99|20p11.23|INSM1, IA1|P|Insulinoma-associated 1||600010|A|||| | ||
20.104|3|6|07|20p11.23|NAT5, NAT3|P|N-acetyltransferase 5||610833|REc, R|||| | ||
20.105|12|5|13|20p11.22|PAX1, OFC2|C|Paired box homeotic gene-1||167411|A, Psh, REa|mutation identified in 1 family||?Otofaciocervical syndrome 2, 615560 (3)| | |2(Pax1)|
20.106|5|14|95|20p11.21|SSTR4|P|Somatostatin receptor-4||182454|A, Psh|||| | |2(Sstr4)|
20.107|9|29|96|20p12.1|PCSK2, NEC2, PC2|C|Proprotein convertase subtilisin/kexin type 2||162151|A, R|||| | |2(Nec2)|
20.108|2|20|01|20p11.23|RBBP9, BOG|P|Retinoma-binding protein 9||602908|A|||| | |2(Rbbp9)|
20.109|8|24|09|20p11.23|SEC23B, CDAN2, HEMPAS|P|Sec23, S. cerevisiae, homolog of, B||610512|R, REc, Fd|||Anemia, dyserythropoietic congenital, type II, 224100 (3)| | ||
20.110|12|18|98|20p12.2|SNAP25|P|Synaptosomal-associated protein, 25kD||600322|R|||| | |2(Snap)|
20.111|3|1|12|20p11.21|THBD, THRM, AHUS6, THPH12|C|Thrombomodulin||188040|REb, A, R|||Thrombophilia due to thrombomodulin defect, 614486 (3);|{Hemolytic uremic syndrome, atypical, susceptibility to, 6}, 612926 (3) | |2(Thbd)|
20.112|9|17|11|20p11.21|VSX1, RINX, PPCD, PPD, KTCN1, CAASDS|C|Visual system homeo box gene 1, zebrafish, homolog of||605020|R, Fd|||Keratoconus 1, 148300 (3); Corneal dystrophy, hereditary polymorphous|posterior, 122000 (3); Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)| ||
20.113|6|19|00|20p11.23|ZNF133|P|Zinc finger protein-133||604075|A|||| | ||
20.114|4|24|96|20p11.21|PYGB|C|Phosphorylase, glycogen, brain||138550|REa, REb, A|||| | |2(Pygb)|
20.115|8|18|04|20p11.23-p11.22|XRN2|P|Exoribonuclease 2||608851|R|||| | ||
20.116|5|1|12|20p11.2-q11.2|CHED1, CHED|C|Congenital hereditary endothelial dystrophy of cornea||121700|Fd|?allelic to PPCD; both in pericentric area||Corneal endothelial dystrophy 1, autosomal dominant (2)| | ||
20.117|11|25|08|20p11.2-q13.12|DYT17|P|Dystonia-17, primary torsion||612406|Fd|between D20S472 and D20S911||Dystonia-17, primary torsion (2)| | ||
20.118|10|9|08|20p11.21|GGTLC1, GGTL6, GGTLA4|P|Gamma-glutamyltransferase, light chain 1||612338|REc|||| | ||
20.119|5|22|07|20p11.23|DTD1, C20orf88|P|D-tyrosyl-tRNA deacylase 1, S. cerevisiae, homolog of||610996|REc|||| | ||
20.120|6|11|13|20p12.1|FLRT3, HH21|P|Fibronectin-like domain-containing leucine-rich transmembrane|protein-3|604808|REc|||Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)| | ||
20.121|9|18|02|20p11.21|FOXA2, HNF3B|C|Forkhead box A2|(hepatic nuclear factor-3, beta)|600288|H, A|||| | |2(Hnf3b)|
20.122|2|16|07|20p11.2-p11.1|NANP, HDHD4|P|N-acetylneuraminic acid phosphatase||610763|REc|||| | ||
20.123|2|11|08|20p11.22|NKX2-2, NKX2B|P|NK2, homeobox 2||604612|A|||| | ||
20.124|2|11|08|20p11.22|NKX2-4, NKX2D|P|NK2 homeobox 4||607808|R, H|||| | |2(Nkx2d)|
20.125|7|11|01|20p12.1|OTOR|C|Otoraplin||606067|A, REc|||| | |2(Otor)|
20.126|8|26|09|20p11.23|SNX5|P|Sorting nexin 5||605937|R, REc|||| | ||
20.127|3|31|11|20p13|ITPA|C|Inosine triphosphatase-A||147520|S|||[Inosine triphosphatase deficiency], 613850 (3)| | |2(Itp)|
20.128|4|10|97|20q11.22|MAP1ALC3, MAP1BLC3|P|Microtubule-associated proteins 1A and 1B, light chain 3||601242|REa|||| | ||
20.129|2|21|11|20q11.22|AHCY, SAHH|C|S-adenosylhomocysteine hydrolase||180960|S, F|~13cM from ADA||Hypermethioninemia with deficiency of S-adenosylhomocysteine|hydrolase, 613752 (3) | ||
20.130|7|26|02|20p|AD8|P|Alzheimer disease 8||607116|Fd|?related to CST3||Alzheimer disease 8, 104300 (2)| | ||
20.131|10|12|09|20p|ATOD3|P|Dermatitis, atopic, 3||605804|Fd|max lod at D20S115||{Dermatitis, atopic, susceptibility to, 3} (2)| | ||
20.132|12|11|02|20p13|P47|P|p47, rat, homolog of||606610|REc|||| | ||
20.133|1|8|01|20q12|LPIN3|P|Lipin 3||605520|REc|||| | |2(Lpin3)|
20.134|5|7|03|20q13.33|OSBPL2, ORP2, KIAA0772|C|Oxysterol-binding protein-like protein 2||606731|R, REc|||| | ||
20.135|6|26|01|20q13.12|PKIG|P|Protein kinase, cAMP-dependent catalytic, inhibitor gamma||604932|R|||| | ||
20.136|6|1|12|20q11.21|BPIFA1, PLUNC, SPLUNC1|P|BPI fold-containing protein, family A, member 1||607412|H, REc|||| | |2(Plunc)|
20.137|6|1|12|20q11.21|BPIFB2, BPIL1|P|BPI fold-containing protein, family B, member 2||614108|Psh, R, REc|||| | ||
20.138|6|1|12|20q11.21|BPIFB6, BPIL3|P|BPI fold-containing protein, family B, member 6||614110|Psh, R, REc|||| | ||
20.139|3|25|03|20q11.21|DEFB118, C20orf63, ESC42|P|Defensin, beta, 118||607650|REc|||| | ||
20.140|1|15|96|20q11.21|ID1|P|Inhibitor of DNA binding 1, dominant negative||600349|REa, A|||| | ||
20.141|12|19|01|20q11.22|NCOA6, ASC2, RAP250, NRC, PRIP|P|Nuclear receptor coactivator 6||605299|R, A|||| | ||
20.142|3|8|07|20q11.21|PDRG1, PDRG, C20orf126|P|P53 and DNA damage-regulated 1||610789|REc|||| | |2(Pdrg1)|
20.143|10|23|87|20q11.21|HCK|P|Hemopoietic cell kinase||142370|REb, A|||| | ||
20.144|7|18|06|20q11-q13|HYT5|P|Hypertension, essential, susceptibility to, 5||610261|Fd|||{Hypertension, essential, susceptibility to, 5}, 145500 (2)| | ||
20.145|1|19|07|20q11-q13|SCAR6, CLA3|P|Spinocerebellar ataxia, autosomal recessive 6||608029|Fd|between D20S471 and D20S119||Spinocerebellar ataxia, autosomal recessive 6 (2)| | ||
20.146|7|20|12|20q11.21|FOXS1, FKHL18, FREAC10|P|Forkhead box S1||602939|REa, A|||| | ||
20.147|8|27|01|20q11.21|MAPRE1, EB1|C|Microtubule-associated protein, RP/EB family, member 1||603108|A, REc|||| | ||
20.148|5|26|13|20q11.22-q11.23|PHF20, GLEA2, HCA58|P|PHD finger protein 20||610335|REc, Psh|||| | ||
20.149|11|30|11|20q11.22|ASIP, AGTIL, SHEP9|C|Agouti, mouse, signaling protein||600201|Psh, A|||[Skin/hair/eye pigmentation 9, dark/light hair], 611742 (3);|[Skin/hair/eye pigmentation 9, brown/nonbrown eyes], 611742 (3) | |2(a)|
20.150|5|11|01|20q11.21|C20orf1, P100|P|Proliferation-associated nuclear protein, 100kD||605917|A|||| | ||
20.151|4|4|05|20q11.21-q11.22|CBFA2T2, MTGR1, EHT|P|Core-binding factor, runt domain, alpha subunit 2, translocated to, 2|(ETO homolog on chromosome 20)|603672|Psh, A|||| | ||
20.152|8|26|09|20q11.21|CDK5RAP1|P|CDK5 regulatory subunit-associated protein 1||608200|R, REc|||| | ||
20.153|12|28|08|20q11.22|CEP2, CEP250, CNAP1|P|Centrosomal protein 2||609689|R|||| | ||
20.154|9|24|08|20q11.2|CMM7|P|Melanoma, cutaneous malignant, susceptibility to, 7||612263|Fd|between rs910873 and rs1885120||{Melanoma, cutaneous malignant, 7} (2)| | ||
20.155|11|29|99|20q11.21|DNMT3B, ICF1|C|DNA methyltransferase 3B||602900|A, Fd|||Immunodeficiency-centromeric instability-facial anomalies syndrome 1,|242860 (3) | ||
20.156|7|1|98|20q11.22|E2F1|P|E2F transcription factor-1||189971|A|||| | ||
20.157|10|3|07|20q11.22|EIF6, EIF3A, ITGB4BP|P|Eurkaryotic translation initiation factor 6||602912|A|||| | ||
20.158|9|28|00|20p11.21|ENTPD6, CD39L2|P|Ectonucleoside triphosphate diphosphohydrolase 6||603160|R, Psh|||| | ||
20.159|7|12|13|20q11.22|GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B|C|Growth/differentiation factor-5 (cartilage-derived morphogenetic|protein-1)|601146|H, Fd|form of brachydactyly type C mapping to 12q24 disproved||Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3);|Brachydactyly, type C, 113100 (3); Chondrodysplasia, Grebe type, 200700 (3); Du Pan syndrome, 228900 (3); Brachydactyly, type A2, 112600 (3); Symphalangism,|proximal, 1B, 615298 (3); Multiple synostoses syndrome 2, 610017 (3); {Osteoarthritis-5}, 612400 (3); Brachydactyly, type A1, C, 615072 (3)|2(bp)|
20.160|10|9|08|20q11.22|GGT7, GGTL3, GGTL5, GGT4|P|Gamma-glutamyltransferase 7||612342|REc|||| | ||
20.161|8|24|98|20q11.23|GHRH, GHRF|C|Growth hormone releasing hormone (somatocrinin)||139190|REa, REb, Ch, Fd, A|||?Isolated growth hormone deficiency due to defect in GHRF (1);|Gigantism due to GHRF hypersecretion (1) | ||
20.162|7|1|05|20q11.22|GSS, GSHS|P|Glutathione synthetase||601002|REa, A|||Hemolytic anemia due to glutathione synthetase deficiency, 231900|(3); Glutathione synthetase deficiency, 266130 (3) | ||
20.163|5|11|00|20q11.22|MMP25|P|Matrix metalloproteinase 24||604871|A|||| | ||
20.164|11|27|00|20q11.22|PROCR, EPCR, CCCA, CCD41|P|Protein C receptor||600646|R, A|||| | |2(Procr)|
20.165|5|27|94|20q11.23|RBL1, CP107|P|Retinoblastoma-like 1 (p107)||116957|A|||| | |2(Rbl1)|
20.166|1|18|12|20q11.23|SAMHD1, AGS5, DCIP, CHBL2|P|SAM domain- and HD domain-containing protein 1||606754|REc|||Aicardi-Goutieres syndrome 5, 612952 (3); Chilblain lupus 2, 614415|(3) | ||
20.167|8|24|09|20q11.21|SNT1, LQT12|C|Syntrophin, alpha (dystrophin-associated protein A1, 59kD, acidic|component)|601017|REa, Psh, A|||Long QT syndrome 12, 612955 (3)| | |2(Snta1)|
20.168|5|16|11|20q11.21|SUN5, TSARG4, SPAG4L|P|Sad1 and Unc84 domain-containing protein 5||613942|REc|||| | ||
20.169|12|8|98|20q11.22|SPAG4|P|Sperm-associated antigen-4||603038|A|||| | ||
20.170|12|2|09|20q11.23|BLCAP, BC10|P|Bladder cancer-associated protein||613110|REc|||| | ||
20.171|8|20|08|20q11.23|CTNNBL1, NAP|P|Catenin, beta-like, 1||611537|REc|||| | |2(Ctnnbl1)|
20.172|10|3|11|20q11.23|EPB41L1, MRD11|P|Erythrocyte membrane protein band 4.1-like 1||602879|R, Psh|||Mental retardation, autosomal dominant 11, 614257 (3)| | ||
20.173|3|31|09|20q11.2-q12|MLRL, MTS|P|Myeloid leukemia-related locus (myeloid tumor suppressor)||601308|Ch|||| | ||
20.174|10|15|98|20q11.23|NNAT|P|Neuronatin||603106|Psh, A|||| | |2(Nnat)|
20.175|2|28|03|20q11.23|TGIF2|P|Transforming growth factor-beta-induced factor 2||607294|A|||| | ||
20.176|1|12|95|20q11.23|TGM2|C|Transglutaminase-2 (C polypeptide,|protein-glutamine-gamma-glutamyltransferase)|190196|A, Psh|||| | ||
20.177|4|19|12|20q12|MAFB, KRML, MCTO|P|v-MAF musculoaponeurotic fibrosarcoma oncogene family, protein B||608968|REc|||Multicentric carpotarsal osteolysis syndrome, 166300 (3)| | ||
20.178|10|12|09|20q13.12|MMP9, CLG4B, MANDP2|C|Matrix metalloproteinase 9 (gelatinase B, 92kD type IV collagenase)||120361|REa, Fd, H, A|||Metaphyseal anadysplasia 2, 613073 (3)| | |2(Clg4b)|
20.179|3|14|13|20q13.12|ZNF335, NIF1, NIF2, MCPH10|P|Zinc finger protein 335||610827|REc|||Microcephaly 10, primary, autosomal recessive, 615095 (3)| | ||
20.180|10|25|11|20q11.21|ASXL1, KIAA0978, BOPS, MDS|P|Additional sex combs-like 1||612990|A, REc|||Bohring-Opitz syndrome, 605039 (3); Myelodysplastic syndrome,|somatic, 614286 (3) | ||
20.181|3|17|03|20q11.21|BASE|P|Breast cancer- and salivary gland-expressed gene||607627|REc|||| | ||
20.182|3|1|10|20q11.21|BCL2L1, BCLX, BCLXL, BCLXS|P|BCL2-like 1||600039|REc|||| | ||
20.183|5|4|09|20q11.21|COX4I2|P|Cytochrome c oxidase, subunit IV, isoform 2||607976|REc|||Exocrine pancreatic insufficiency, dyserythropoietic anemia, and|calvarial hyperostosis, 612714 (3) | ||
20.184|7|23|13|20q11.22|CHMP4B, SNF7, CTPP3, CTRCT31|C|CHMP family, member 4B||610897|REc, Fd|||Cataract 31, multiple types, 605387 (3)| | ||
20.185|8|26|09|20q11.21|HM13, SPP|P|Minor histocompatibility 13 (signal peptide peptidase)||607106|R, REc|||| | ||
20.186|8|26|09|20q11.21|KIF3B, KIAA0359|P|Kinesin family member 3B||603754|R, REc|||| | ||
20.187|8|3|12|20q11.21|PLAGL2|P|Pleomorphic adenoma gene-like 2||604866|REc|||| | ||
20.188|7|23|13|20q11.21|POFUT1, OFUCT1, KIAA0180, DDD2|P|Protein O-fucosyltransferase 1||607491|REc|||Dowling-Degos disease 2, 615327 (3)| | ||
20.189|8|19|13|20q11.21|REM1, GES|P|Ras (Rad and Gem)-like GTP-binding 1||610388|REc, R|||| | ||
20.190|9|19|00|20q11.23|NDRG3|P|N-myc downstream-regulated gene 3||605273|REc, R|||| | ||
20.191|5|13|08|20q11.22|ACSS2, ACS|P|Acetyl-CoA synthetase short-chain family member 2||605832|R, REc|||| | ||
20.192|4|21|04|20q11.22|CDC91L1, PIGU|C|Cell division cycle 91, S. cerevisiae, homolog-like 1||608528|REc, REn|||| | ||
20.193|5|25|13|20q11.22|CPNE1, CPN1|P|Copine I||604205|REc|||| | ||
20.194|5|24|13|20q11.22|EDEM2|P|Endoplasmic reticulum degradation-enhancing alpha-mannosidase-like|protein 2|610302|REc|||| | ||
20.195|1|27|11|20q11.22|MIR499, MIRN499|P|Micro RNA 499||613614|REc|||| | |2(Mir499)|
20.196|3|1|06|20q11.22|MYH7B, MYH14, KIAA1512|C|Myosin, heavy chain 7B, cardiac muscle, beta||609928|R, REc|||| | ||
20.197|12|17|08|20q11.22|NECAB3, EFCBP3, NIP1, APBA2BP, XB51, STIP3|P|N-terminal EF-hand calcium-binding protein 3||612478|REc|||| | ||
20.198|10|2|12|20q11.22|RBM39, CAPER, RNPC2|P|RNA binding motif protein 39||604739|REc, R|||| | ||
20.199|2|17|09|20q11.22|STQTL14|P|Stature quantitative trait locus 14||612228|Fd|associated with rs6060373||{Stature QTL 14} (2)| | ||
20.200|2|17|09|20q11.22|UQCC, CBP3, BFZB, C20orf44|P|Ubiquinol-cytochrome C reductase complex chaperone||611797|REc|||| | ||
20.201|6|7|10|20q11.22|ITCH, AIP4, NAPP1|P|Itchy, mouse, homolog of||606409|A, R|||Autoimmune disease, syndromic multisystem, 613385 (3)| | |2(Itch)|
20.202|2|25|10|20q11.23|PPP1R16B, TIMAP, KIAA0823|P|Protein phosphatase 1, regulatory subunit 16B||613275|REc|||| | ||
20.203|2|13|13|20q11.23|ADIG, SMAF1|P|Adipogenin||611396|REc|||| | |2(Smaf1)|
20.204|2|21|06|20q11.23|MYL9, MLC2|P|Myosin light chain 9, regulatory||609905|R, REc|||| | ||
20.205|7|18|12|20q11.23|RPRD1B, CREPT|P|Regulation of nuclear pre-mRNA domain-containing protein 1B||614694|REc|||| | ||
20.206|5|24|13|20q11.23|SCAND1, RAZ1, SDP1|P|SCAN domain-containing 1||610416|REc|||| | ||
20.207|8|26|09|20q11.23|SLA2, SLAP2|P|SRC-like adaptor 2||606577|R, REc|||| | ||
20.208|2|2|04|20q11.22|TRPC4AP, TRUSS|P|TRPC4-associated protein||608430|R, REc|||| | |2(Trpc4ap)|
20.209|1|18|12|20q11.23|TTI1, KIAA0406|P|TELO2-interacting protein 1||614425|R, REc|||| | ||
20.210|4|25|93|20q11.23|BPI|P|Bactericidal/permeability-increasing protein||109195|REa, A|||| | ||
20.211|4|25|93|20q11.23|LBP|P|Lipopolysaccharide-binding protein||151990|REa, A|||| | ||
20.212|9|18|08|20q13.12|DBNDD2, HSMNP1|P|Dysbindin domain-containing 2||611453|A|||| | ||
20.213|4|11|11|20q13.12|JPH2, JP2, CMH17|P|Junctophilin 2||605267|A|||Cardiomyopathy, familial hypertrophic 17, 613873 (3)| | ||
20.214|11|12|10|20q13.12|L3MBTL, L3MBTL1, KIAA0681|C|L3MBT-like||608802|Psh, R|||| | ||
20.215|2|1|00|20q13.12|NCOA3, AIB1, TNRC14|P|Nuclear receptor coactivator 3 (amplified in breast cancer-1)||601937|Pcm|||| | ||
20.216|5|14|95|20p13|TGM3|P|Transglutaminase-3 (E polypeptide, protein-glutamine-gamma-glutamyl|transferase)|600238|Psh, A|||| | ||
20.217|11|21|02|20q13.12|KCNK15, TASK5|C|Potassium channel, subfamily K, member 15||607368|REc|||| | ||
20.218|5|27|94|20q13.12|PI3|P|Protease inhibitor 3, skin derived (SKALP)||182257|REa, A|||| | ||
20.219|12|19|96|20q13.12|SDC4|P|Syndecan 4 (amphiglycan, ryudocan)||600017|A, H|||| | |2(Sdc4)|
20.220|10|4|05|20q12|ZHX3, KIAA0395|P|Zinc finger and homeodomain protein-3||609598|R, REc|||| | ||
20.221|8|9|99|20q11.23|SRC, ASV, SRC1|C|Protooncogene SRC, Rous sarcoma||190090|REa, A, REb|?20q11.2||Colon cancer, advanced (3)| | |2(Src)|
20.222|3|29|99|20q13.12|WISP2|P|Wnt-1 inducible signaling pathway protein 2||603399|R|||| | ||
20.223|12|9|98|20q13.12|HNF4A, TCF14, MODY1|C|Hepatocyte nuclear factor 4, alpha (transcription factor-14)||600281|Fd, A|||MODY, type I, 125850 (3); {Diabetes mellitus, noninsulin-dependent},|125853 (3) | |2(Hnf4a)|
20.224|3|1|00|20q12-q13.1|NIDDM3|P|Noninsulin-dependent diabetes mellitus 3||603694|Fd|||{Diabetes mellitus, noninsulin-dependent}, 125853 (2)| | ||
20.225|7|12|94|20q12|PLCG1, PLC1|C|Phospholipase C, gamma 1 (formerly subtype 148)||172420|REa, A, Fd|||| | ||
20.226|12|17|07|20q13.12|PLTP, HDLCQ9|C|Phospholipid transfer protein||172425|REa, A|||[High density lipoprotein cholesterol level QTL 9] (3)| | |2(Pltp)|
20.227|12|11|13|20q12-q13|PTPRT, KIAA0283|P|Protein-tyrosine phosphatase, receptor-type, T||608712|REc, H|||| | |2(Ptprt)|
20.228|12|10|91|20q11.23|RPN2|C|Ribophorin II||180490|REa, A|||| | |2(Rpn2)|
20.229|7|13|93|20q13.12|SEMG1, SEMG|C|Semenogelin||182140|A, REn|||| | ||
20.230|7|13|93|20q13.12|SEMG2|P|Semenogelin II||182141|REn|||| | ||
20.231|8|26|09|20q13.12|SLC12A5, KCC2, KIAA1176|C|Solute carrier family 12, (potassium-chloride transporter) member 5||606726|R, A|||| | |5(Slc12a5)|
20.232|10|24|01|20q13.12|SLC13A3, NADC3|P|Solute carrier family 13 (sodium-dependent dicarboxylate transporter),|member 3|606411|A|||| | ||
20.233|5|16|11|20q13.12|SPINT3|P|Serin protease inhibitor, Kunitz-type, 3||613941|REc|||| | ||
20.234|5|26|05|20q12|TOP1|C|Topoisomerase (DNA) I||126420|REa, A|pseudogenes on chr.1 and 22||DNA topoisomerase I, camptothecin-resistant (3)| | |2(Top1)|
20.235|3|22|06|20q13.12|WFDC12, WAP2, SWAM2|C|Wap 4-disulfide core domain 12||609872|REc|||| | ||
20.236|5|28|09|20q11.22|DYNLRB1, DNCL2A, DNLC2A|C|Dynein, light chain, roadblock type, 1||607167|R|||| | ||
20.237|6|1|98|20q13.12|TNNC2|C|Troponin C2, fast||191039|Psh, R|||| | ||
20.238|5|6|11|20q12-q13.12|PSMNSW|P|Parasomnia, sleepwalking type||613938|Fd|between 55.6 and 61.4 cM||Parasomnia, sleepwalking type (2)| | ||
20.239|7|1|11|20q13.12|CD40, TNFRSF5|C|CD40 antigen||109535|A, D|||Immunodeficiency with hyper-IgM, type 3, 606843 (3)| | |2(Cd40)|
20.240|1|12|05|20q13.12|WFDC5, PRG5, WAP1|C|WAP 4-disulfide core domain 5||605161|REc|||| | ||
20.241|9|30|10|20q13.33|BHLHE23, BHLHB4|P|Basic helix-loop-helix fmaily, member E23||609331|A, REa, H|||| | |2(Bhlhb4)|
20.242|6|3|98|20q13.13|CSE1L, CAS|P|Chromosome segregation-1, yeast, homolog of, like||601342|A|||| | ||
20.243|9|10|09|20q13.32|CTSZ|C|Cathepsin Z||603169|A, REc|||| | ||
20.244|8|20|98|20q13.33|EEF1A2|P|Eukaryotic translation elongation factor-1, alpha-2||602959|H, A|||| | |2(wst, Eef1a2)|
20.245|8|26|09|20q13.12|ELMO2, CED12|P|Engulfment and cell motility gene 2||606421|REc|||| | ||
20.246|9|7|04|20q13|GEVQ2|P|Gene expression, variation in, quantitative trait locus on chromosome|20|608878|Fd|||{Gene expression, variation in, QTL} (2)| | ||
20.247|8|15|06|20q13|HPC3|P|Prostate cancer, hereditary, 3||608656|Fd|||{Prostate cancer, susceptibility to, 3}, 176807 (2)| | ||
20.248|2|12|09|20q13|IBD24|P|Inflammatory bowel disease 24||612566|Fd|associated with rs2315008 and rs4809330||{Inflammatory bowel disease 24} (2)| | ||
20.249|5|21|99|20q13.13|KCNG1, KH2|P|Potassium voltage-gated channel, subfamily G, member 1||603788|A|||| | ||
20.250|6|15|99|20q13.33|NTSR1|P|Neurotensin receptor||162651|A|||| | |2(Ntsr1)|
20.251|3|7|13|20q13.31|PMEPA1, TMEPAI|P|Prostate transmembrane protein, androgen-induced||606564|REc|||| | ||
20.252|8|24|09|20q13|PSORS12|P|Psoriasis susceptibility 12||612950|Fd|associated with rs495337||{Psoriasis susceptibility 12} (2)| | ||
20.253|12|24|08|20q13.13|RNF114, ZNF313|P|Ring finger protein 114||612451|REc|||| | ||
20.254|5|31|06|20q13|SLEB8|P|Systemic lupus erythematosus, susceptibility to, 8||610066|Fd|||{Systemic lupus erythematosus, susceptibility to, 8} (2)| | ||
20.255|8|20|01|20q13.32|TH1L, TH1|P|TH1, Drosophila, homolog of||605297|REn|||| | ||
20.256|1|12|99|20q13.33|TNFRSF6B, DCR3|P|Tumor necrosis factor receptor superfamily, member 6b (decoy|receptor 3)|603361|R, Fd|||| | ||
20.257|3|17|06|20q13.12|ACOT8, PTE1|P|Acyl-CoA thioesterase 8||608123|R, REc|||| | |2(Acot8)|
20.258|3|1|06|20q13.12|CDH22|P|Cadherin 22||609920|R, REc|||| | ||
20.259|9|12|92|20q13.13|CEBPB, TCF5|C|CCAAT/enhancer-binding protein (C/EBP), beta (transcription factor-5)||189965|REa, A|||| | |2(Cebpb)|
20.260|11|23|09|20q13.12|CTSA, PPGB, GSL, NGBE, GLB2|C|Cathepsin A (protective protein for beta-galactosidase)||613111|S, A, Fd|||Galactosialidosis, 256540 (3)| | |2(Ppgb)|
20.261|2|3|97|20q13.12|EYA2|C|Eyes absent, Drosophila, homolog of, 2||601654|A, R|||| | |2(Eya2)|
20.262|9|23|96|20q13.12|MYBL2, BMYB|P|v-myb avian myeloblastosis viral oncogene homolog-like 2||601415|A|||| | |2(Mybl2)|
20.263|5|2|06|20q13.12|SLC2A10, GLUT10, ATS|C|Solute carrier family 2 (facilitated glucose transporter), member 10||606145|REc, Fd|||Arterial tortuosity syndrome, 208050 (3)| | ||
20.264|10|22|99|20q13.13|SNAI1|P|Snail 1, Drosophila, homolog of||604238|A, R|pseudogene on 2q34||| | ||
20.265|6|30|97|20q13.13|STAU|P|Staufen, Drosophila, homolog of||601716|A, REa|||| | ||
20.266|9|28|96|20q13.12|YWHAB|P|Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation|protein, beta polypeptide|601289|A|||| | ||
20.267|11|29|99|20q13.13|B4GALT5|C|Beta-1,4-galactosyltransferase 5||604016|Psh, TM|previously mapped to chr.11||| | ||
20.268|2|7|01|20q13.12|MATN4|P|Matrilin 4||603897|A|||| | ||
20.269|1|7|09|20q13.13|PTPN1, PTP1B|C|Protein tyrosine phosphatase, nonreceptor-type, 1||176885|REa, A, H|20pter-q12 by REa||{Insulin resistance, susceptibility to}, 125853 (3)| | |2(Ptpn1)|
20.270|8|26|09|20q13.13|SPATA2, KIAA0757|P|Spermatogenesis-associated protein 2||607662|R, REc|||| | ||
20.271|8|26|09|20q13.31|BMP7|C|Bone morphogenetic protein-7 (osteogenic protein-1)||112267|REa, H|||| | |2(Bmp7)|
20.272|11|21|06|20q13.12|SERINC3, TDE1|P|Serine incorporator 3||607165|A|||| | ||
20.273|5|31|05|20q13.12|ADA|C|Adenosine deaminase||608958|S, D, REa, F, A, Fd|||Severe combined immunodeficiency due to ADA deficiency, 102700 (3);|Adenosine deaminase deficiency, partial, 102700 (3) | |2(Ada)|
20.274|10|14|09|20q13.11|GRD2|C|Graves disease, susceptibility to, 2||603388|Fd|||{Graves disease, susceptibility to, 2} (2)| | ||
20.275|12|19|11|20q13.11|SRSF6, SFRS6, SRp55|P|Splicing factor, serine/arginine-rich, 6||601944|R, REc|||| | ||
20.276|12|20|02|20q13.13|PTGIS, CYP8A1, PGIS, CYP8|P|Prostaglandin 12 synthase||601699|A|||Hypertension, essential, 145500 (3)| | ||
20.277|6|9|08|20q13.12|FIT2, C20orf142|P|Fat-inducing transcript 2||612029|R, REc|||| | ||
20.278|7|20|12|20q13.12|KCNS1, KV9.1|P|Potassium channel, voltage-gated, delayed-rectifier, subfamily S,|member 1|602905|REc|||| | ||
20.279|9|12|13|20q13.12|PIGT, NDAP, PNH2, MCAHS3|P|Phosphatidylinositol glycan, class T||610272|REc, R|mutation identified in 1 family in each disorder||?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3); ?Multiple|congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3) | ||
20.280|8|8|13|20q13.12|SLPI, HUSI|P|Secretory leukocyte protease inhibitor||107285|REc|||| | |2(Slpi)|
20.281|5|19|06|20q13.12-q13.13|SULF2, KIAA1247|P|Sulfatase 2||610013|REc|||| | |2(Sulf2)|
20.282|9|9|09|20q13.12|SYS1|P|Sys1 golgi-localized integral membrane protein, S. cerevisiae, homolog|of|612979|REc|||| | ||
20.283|8|19|13|20q13.12|TOX2, GCX1, C20orf100|P|TOX high mobility group box family member 2||611163|REc|||| | ||
20.284|10|31|08|20q13.12|UBE2C, UBCH10|P|Ubiquitin-conjugating enzyme E2C||605574|R, REc|||| | ||
20.285|8|17|09|20q13.13|ARFGEF2, BIG2, PVNH2|C|ADP-ribosylation factor guanine nucleotide-exchange factor 2,|brefeldin A-inhibited|605371|REa, Fd|||Periventricular heterotopia with microcephaly, 608097 (3)| | ||
20.286|11|15|08|20q13.13|BCAS4|P|Breast carcinoma amplified sequence 4||607471|REc|||| | ||
20.287|8|25|04|20q13.13|DPM1, MPDS, CDGIE|P|Dolicyl-phosphate mannosyltransferase 1, catalytic subunit||603503|REc, Fd|||Congenital disorder of glycosylation, type Ie, 608799 (3)| | ||
20.288|11|2|04|20q13.13|PARD6B|P|Partitioning-defective protein 6, C. elegans, homolog of, beta||608975|R, REc|||| | ||
20.289|5|13|02|20q13.13|PREX1, KIAA1415|P|Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1||606905|REc|||| | ||
20.290|5|4|09|20q13.13|SLC9A8, NHE8, KIAA0939|P|Solute carrier family 9 (sodium/hydrogen exchanger), member 8||612730|REc|||| | ||
20.291|4|17|07|20q13.2|SALL4, HSAL4|C|sal-like 4||607343|REc, Fd|||Duane-radial ray syndrome, 607323 (3); IVIC syndrome, 147750 (3)| | ||
20.292|10|15|98|20q13.2|BCAS1, NABC1|P|Breast carcinoma amplified sequence||602968|REc|||| | ||
20.293|1|24|13|20q13.2|CBLN4|P|Precerebellin 4||615029|REc|||| | ||
20.294|5|25|13|20q13.2|CSTF1|P|Cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD||600369|REc|||| | ||
20.295|2|28|03|20q13.31|CTCFL, BORIS|P|CCCTC-binding factor-like protein||607022|A|||| | ||
20.296|12|13|03|20q13.2|DOK5|P|Docking protein 5||608334|REc|||| | ||
20.297|3|2|10|20q13.32|GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C|C|GNAS complex locus (guanine nucleotide binding protein (G protein),|alpha stimulating activity polypeptide 1)|139320|REa, H, A, Fd|||Pseudohypoparathyroidism Ia, 103580 (3); McCune-Albright syndrome,|174800 (3); Pseudohypoparathyroidism Ic, 612462 (3); Osseous heteroplasia, progressive, 166350 (3); Pseudohypoparathyroidism Ib, 603233 (3); Prolonged|bleeding time, brachydactyly and mental retardation (3); Acromegaly, 102200 (3); Pseudopseudohypoparathyroidism, 612463 (3); Prolonged bleeding time, brachydactyly, and mental retardation (3); ACTH-independent macronodular adrenal hyperplasia, 219080 (3)|2(Gnas)|
20.298|4|27|12|20q13.32|GNASAS1, GNASAS, SANG, NESPAS|P|GNAS antisense RNA 1||610540|REc|||Pseudohypoparathyroidism, type IB, 603233 (3)| | ||
20.299|3|27|95|20q13.13|KCNB1|P|Potassium voltage-gated channel, Shab-related subfamily, member 1||600397|A, Fd|||| | |2(Kcnb1)|
20.300|7|22|09|20q13.2|MC3R, BMIQ9|C|Melanocortin-3 receptor||155540|A|||{Obesity, severe, susceptibility to, BMIQ9}, 602025 (3);|{Mycobacterium tuberculosis, protection against}, 607948 (3) | |2(Mc3r)|
20.301|7|9|06|20q13.2|PFDN4, C1|P|Prefoldin 4||604898|R|||| | ||
20.302|8|26|09|20q13.12|SGK2|P|Serum/glucocorticoid-regulated kinase 2||607589|R, REc|||| | ||
20.303|6|13|12|20q13.12|SPINLW1, EPPIN, WAP7|C|Serine protease inhibitor-like protein with Kunitz and WAP domains 1||609031|REc|||| | |2(Spinlw1)|
20.304|10|17|12|20q13.12|STK4, MST1, KRS2, TIIAC|C|Serine/threonine protein kinase 4||604965|R, REc|||T-cell immunodeficiency, recurrent infections, autoimmunity,|and cardiac malformations, 614868 (3) | ||
20.305|1|26|97|20q13.31|TFAP2C|P|Transcription factor AP-2 gamma (activating enhancer-binding protein|2 gamma)|601602|A|||| | |2(Tfap2c)|
20.306|7|27|11|20q13.2|TSHZ2|P|Teashirt zinc finger homeobox 2||614118|REc|||| | ||
20.307|11|4|98|20q13.13|UBE2V1, UEV1|P|Ubiquitin-conjugating enzyme E2 variant 1||602995|A|||| | ||
20.308|5|5|99|20q13.2|ZNF217|C|Zinc finger protein-217||602967|REn|||| | ||
20.309|4|17|06|20q13.2|AURKA, STK15, AURORA2, BTAK, ARK1, STK6, AIK|C|Aurora kinase A||603072|H, REc|||{Colon cancer, susceptibility to}, 114500 (3)| | ||
20.310|7|19|04|20q13.33|CHRNA4, ENFL1|C|Cholinergic receptor, nicotinic, alpha polypeptide-4||118504|REa, REn, A|||Epilepsy, nocturnal frontal lobe, 1, 600513 (3); {Nicotine|addiction, susceptibility to}, 188890 (3) | |2(Acra4)|
20.311|9|8|11|20q13.2|CYP24A1, CYP24, HCAI|C|Cytochrome P450, family 24, subfamily A, polypeptide 1|(vitamin D 24-hydroxylase)|126065|A, REa|||Hypercalcemia, infantile, 143880 (3)| | |2(Cyp24)|
20.312|7|19|06|20q13.2-q13.3|DFNB65|P|Deafness, autosomal recessive 65||610248|Fd|max lod at D20S840||Deafness, autosomal recessive 65 (2)| | ||
20.313|1|25|11|20q13.32|EDN3, WS4B, HSCR4|C|Endothelin-3||131242|REa, A|||Waardenburg syndrome, type 4B, 613265 (3); Central hypoventilation|syndrome, congenital, 209880 (3); {Hirschsprung disease, susceptibility to, 4}, 613712 (3)| |2(Edn3)|
20.314|3|15|92|20q13.2-q13.3|EEGV1, EEGL|P|Electro-encephalographic variant pattern-1||130180|Fd|||| | ||
20.315|10|3|07|20q13.33|GATA5|P|GATA-binding protein 5||611496|REc, H|||| | |2(Gata5)|
20.316|10|19|97|20q13.33|LAMA5|P|Laminin, alpha-5||601033|A|||| | |2(Lama5)|
20.317|2|14|97|20q13.2|NFATC2, NFATP|P|Nuclear factor of activated T cells, cytoplasmic,|calcineurin-dependent 2|600490|REa, A|||| | |2(Nfatp)|
20.318|7|14|00|20q13.31|SPO11|P|Spo11, S. cerevisiae, homolog of||605114|A|||| | |2(Spo11)|
20.319|6|15|99|20q13.33|TPD52L2|P|Tumor protein D52-like 2||603747|A|||| | ||
20.320|7|1|11|20q13.32|ATP5E, MC5DN3|P|ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon|subunit|606153|R|pseudogene on 4q25||Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3,|614053 (3) | ||
20.321|3|19|01|20q13.33|BIRC7, MLIAP, KIAP, LIVIN|C|Baculoviral IAP repeat-containing protein 7||605737|R, A|||| | ||
20.322|7|1|02|20q13.33|CDH4|P|Cadherin 4||603006|R|||| | ||
20.323|6|3|02|20q13.33|COL9A3, EDM3, IDD|C|Collagen IX, alpha-3 polypeptide||120270|Fd, A, R|||Epiphyseal dysplasia, multiple, 3, 600969 (3); Epiphyseal dysplasia,|multiple, with myopathy (3); {Intervertebral disc disease, susceptibility to}, 603932 (3)| ||
20.324|9|14|95|20q13.33|GPR8|P|G protein-coupled receptor-8||600731|A|related sequence on 14||| | ||
20.325|2|11|11|20q13.33|KCNQ2, EBN1, EIEE7, BFNS1|C|Potassium voltage-gated channel, KQT-like subfamily, member 2||602235|REc, Fd|||Seizures, benign neonatal, 1, 121200 (3); Myokymia, 121200 (3);|Epileptic encephalopathy, early infantile, 7, 613720 (3) | ||
20.326|12|23|05|20q13.33|LIME1, LIME|P|LCK-interacting transmembrane adaptor 1||609809|REc, R|||| | ||
20.327|8|26|09|20q13.32|MIR296, MIRN296|P|Micro RNA 296||610945|REc|||| | ||
20.328|12|17|01|20q11.21|MYLK2, MLCK|P|Myosin light chain kinase 2||606566|REc|||Cardiomyopathy, hypertrophic, midventricular, digenic, 192600 (3)| | ||
20.329|11|1|09|20q13.33|MYT1, PLPB1|P|Myelin transcription factor 1||600379|REc, H|||| | |2(Myt1)|
20.330|8|23|01|20q13.33|PPP1R3D, PPP1R6|P|Protein phosphatase 1, regulatory subunit 3D||603326|R|||| | ||
20.331|7|11|11|20q13.33|PRIC285, PDIP1, KIAA1769|P|Peroxisomal proliferator-activated receptor alpha-interacting cofactor|complex, 285kD subunit|611265|R, REc|||| | ||
20.332|3|14|13|20q13.33|PTK6, BRK|P|Protein-tyrosine kinase 6||602004|A|||| | ||
20.333|9|10|09|20q13.32|RAB22A|P|Ras-associated protein RAB22A||612966|R|||| | ||
20.334|2|23|08|20q13.12|RIMS4|P|Protein regulating synaptic membrane exocytosis 4||611601|REc|||| | |2(Rims4)|
20.335|2|7|01|20q13.33|RPS21|P|Ribosomal protein S21||180477|REa, R|||| | ||
20.336|9|23|13|20q13.33|RTEL1, C20orf41, NHL, KIAA1088, DKCB5, DKCA4|C|Regulator of telomere elongation helicase 1||608833|REc, H|||Dyskeratosis congenita, autosomal recessive 5, 615190 (3);|Dyskeratosis congenita, autosomal dominant 4, 615190 (3) | |2(Rtel)|
20.337|6|27|08|20q13.33|SLC17A9, C20orf59|P|Solute carrier family 17, member 9||612107|REc|||| | ||
20.338|1|11|07|20q13.33|SS18L1, KIAA0693, CREST|C|SS18-like gene 1||606472|R, A|||| | ||
20.339|1|27|04|20q13.33|STMN3, SCLIP|P|Stathmin-like 3||608362|REc|||| | ||
20.340|5|2|06|20q13.32|VAPB, VAPC, ALS8|C|Vesicle-associated membrane protein-associated protein B||605704|R, Fd|||Amyotrophic lateral sclerosis 8, 608627 (3); Spinal muscular|atrophy, late-onset, Finkel type, 182980 (3) | ||
20.341|12|22|08|20q13.31|RBM38, RNPC1|P|RNA-binding motif protein 38||612428|REc|||| | ||
20.342|8|25|11|20q13.31|PCK1|C|Phosphoenolpyruvate carboxykinase-1 (soluble)||614168|REa, A, Fd|||?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency, 261680|(1) | |2(Pck1)|
20.343|12|2|09|20q13.32|TUBB1|P|Tubulin, beta-1||612901|REc|||Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)| | ||
20.344|8|23|02|20q13.31|ZBP1, C20ORF183, DLM1|P|Z-DNA binding protein 1|(tumor stroma and activated macrophage protein DLM1)|606750|REc|||| | ||
20.345|4|20|11|20q13.31-q13.33|MTBS3|P|Mycobacterium tuberculosis, susceptibility to, 3||612929|Fd|associated with rs3827103||{Mycobacterium tuberculosis, susceptibility to, 3} (2)| | ||
20.346|12|10|12|20q13.32|MIR298|P|Micro RNA 298||614914|REc|||| | ||
20.347|7|16|12|20q13.32-q13.33|PHACTR3, SCAPININ|P|Phosphatase and actin regulator 3||608725|REc|||| | ||
20.348|12|10|08|20q13.32|STX16, SYN16|P|Syntaxin 16||603666|REn, REc|||Pseudohypoparathyroidism, type IB, 603233 (3)| | ||
20.349|1|27|04|20q13.33|ARFGAP1|P|ADP-ribosylation factor GTPase-activating protein 1||608377|REc|||| | ||
20.350|2|24|12|20q13.33|ARFRP1, ARP|P|ADP-ribosylation factor-related protein 1||604699|REc|||| | ||
20.351|2|18|08|20q13.33|C20orf11, TWA1|P|Chromosome 20 open reading frame 11||611625|R, REc|||| | ||
20.352|2|25|08|20q13.33|C20orf20, MRGBP|P|Chromosome 20 open reading frame 20||611157|R, REc|||| | ||
20.353|11|4|05|20q13.33|DATF1, DIO1|P|Death-associated transcription factor 1||604140|REc|||| | ||
20.354|1|5|12|20q13.33|DNAJC5, DNAJC5A, CSP, CLN4B|P|DNAJ/HSP40 homolog, subfamily C, member 5||611203|REc|||Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 (3)| | ||
20.355|4|13|10|20q13.33|GLM6|P|Glioma susceptibility 6||613031|Fd|associated with rs6010620||{Glioma susceptibility 6} (2)| | ||
20.356|8|26|09|20q13.33|GMEB2, KIAA1269|P|Glucocorticoid modulatory element-binding protein 2||607451|R, REc|||| | ||
20.357|4|18|07|20q13.33|GTPBP5, OBGH1|P|GTP-binding protein 5||610919|R, REc|||| | ||
20.358|1|6|09|20q13.33|HAR1A, HAR1F|P|Highly accelerated region gene 1A||610556|REc|||| | ||
20.359|1|6|09|20q13.33|HAR1B, HAR1R|P|Highly accelerated region gene 1B||610557|REc|||| | ||
20.360|5|24|13|20q13.33|MIR1-1|P|Micro RNA 1-1||609326|REc|||| | ||
20.361|5|24|13|20q13.33|MIR133A2|P|Micro RNA 133A2||610255|REc|||| | |2(Mir133a2)|
20.362|7|16|09|20q13.33|NKAIN4|P|Na+/K+ transporting ATPase-interacting 4||612873|REc|||| | |2(Nkain4)|
20.363|5|20|11|20q13.33|PRPF6, PRP6, ANT1, TOM, C20orf14|P|Precursor mRNA-processing factor 6, S. cerevisiae, homolog of||613979|REc|||Retinitis pigmentosa 60, 613983 (3)| | ||
20.364|8|26|09|20q13.33|PSMA7|P|Proteasome subunit, alpha-type, 7||606607|R, REc|||| | ||
20.365|12|4|08|20q13.33|SLCO4A1, OATPE, OATP4A1|P|Solute carrier organic anion transporter family, member 4A1||612436|R, REc|||| | ||
20.366|5|28|03|20q13.33|SOX18, HLTS|C|SOX18, mouse, homolog of||601618|REa, R|||Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3)| | |2(Sox18, ragged)|
20.367|2|7|01|20q13.33|SYCP2, SCP2|P|Synaptonemal complex protein 2||604105|A|||| | ||
20.368|8|26|09|20q13.33|TAF4, TAF2C1, TAFII130, TAF2C|P|TAF4 RNA polymerase II, TATA box-binding protein-associated factor,|135kD|601796|R, REc|||| | ||
20.369|3|26|07|20q13.33|UCKL1, UCK1L, URKL1|P|Uridine/cytidine kinase-like 1||610866|REc|||| | ||
20.370|7|20|12|20q13.33|ZBTB46, BZEL|P|Zinc finger- and BTB domain-containing protein 46||614639|REc|||| | ||
20.371|10|23|87|Chr.20|HTL, LEUT, HLT|P|Leucine transport, high||151310|S|||| | ||
21.1|8|24|09|21p13-q11|AUTS12|P|Autism, susceptibility to, 12||610838|Fd|max lod at D21S1437||{Autism susceptibility 12} (2)| | ||
21.2|4|26|90|21p12|RNR4|C|Ribosomal RNA-4||180453|A|||| | ||
21.3|2|27|01|21p11.1|TPTE|P|Transmembrane phosphatase with tensin homology||604336|REc, A|||| | ||
21.4|12|21|98|21q11.2-q21.1|NRIP1, RIP140|C|Nuclear receptor interacting protein 1 (receptor interacting protein|140)|602490|A, REc|||| | ||
21.5|3|5|96|21q11.2|STCH|P|Stress 70 protein chaperone, microsome-associated, p60||601100|A|||| | ||
21.6|9|16|12|21q11.2|ABCC13|P|ATP-binding cassette, subfamily C, member 13||608835|REc|||| | ||
21.7|10|27|99|21q21.1|CXADR, CAR|P|Coxsackie virus and adenovirus receptor||602621|Psh, A|pseudogenes on chr.15 and chr.18||| | ||
21.8|3|31|05|21q11.2|LIPI, LPDL, PRED5|P|Lipase I||609252|REc|||{Hypertriglyceridemia, susceptibility to}, 145750 (3)| | |16(Lipi)|
21.9|12|15|04|21q11.2|NRCLP3|P|Narcolepsy 3||609039|Fd|max lod at D21S1245||Narcolepsy 3 (2)| | ||
21.10|6|7|10|21q11.2|POTED, ANKRD21, POTE|P|POTE ankyrin domain family, member D||607549|REc, A|||| | ||
21.11|7|24|03|21q11.2|SAMSN1, HACS1|P|SAM domain, SH3 domain, and nuclear localization signals 1||607978|REc|||| | ||
21.12|3|26|96|21q11.2|TAM, MST|P|Myeloproliferative syndrome, transient (transient abnormal|myelopoiesis)|159595|Ch|||Leukemia, transient, of Down syndrome (2)| | ||
21.13|3|5|08|21q21.3|MRPL39, MRPL5|P|Mitochondrial ribosomal protein L39||611845|R, REc|||| | ||
21.14|2|27|01|21q21.1|BTG3, ANA, TOB5|P|B-cell translocation gene 3||605674|A|||| | ||
21.15|4|17|12|21q21.3|APP, AAA, CVAP, AD1|C|Amyloid beta (A4) precursor protein||104760|REa, A, Fd, RE|proximal to SOD; very distal q21 or boundary with q22||Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic|variants, 605714 (3); Alzheimer disease 1, familial, 104300 (3) | |16(App)|Schellenberg (1991); Jones (1992)
21.16|11|6|00|21q21.1|NCAM2|P|Cell adhesion molecule, neural, 2||602040|Psh|||| | ||
21.17|1|28|02|21q21.1|PRSS7, ENTK|C|Protease, serine, 7 (enterokinase)||606635|A|||Enterokinase deficiency, 226200 (3)| | ||
21.18|6|13|07|21q21.3|TAK1L, C21orf7|P|TAK1-like||611110|REc|||| | ||
21.19|5|29|98|21q21|USH1E|P|Usher syndrome-1E, autosomal recessive, severe||602097|Fd|||Usher syndrome, type 1E (2)| | ||
21.20|2|1|01|21q21.3|ADAMTS5, ADAMTS11|P|A disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 5 (aggrecanase 2)|605007|REa, R|||| | |16(Adamts5)|
21.21|10|17|95|21q21.3|GABPA, E4TF1A|C|GA-binding protein transcription factor, alpha subunit, 60kD||600609|A, REn, Psh, REc|||| | ||
21.22|3|23|09|21q21.1|MIR125B2, MIRN125B2|P|Micro RNA 125B-2||610105|REc|||| | ||
21.23|3|23|09|21q21.1|MIRLET7C, MIRNLET7C, LET7C|P|Micro RNA Let7c||612144|REc|||| | ||
21.24|1|29|01|21q21.3|ADAMTS1, METH1|P|A disintegrin-like and metalloproteinase with thrombospondin type 1|motif, 1|605174|REc|||| | ||
21.25|4|29|02|21q21.3|JAM2, VEJAM|P|Junctional adhesion molecule 2||606870|REc|||| | ||
21.26|2|1|11|21q21.3|ATP5J, ATP5|P|ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6||603152|REc|||| | |9(Atp5j)|
21.27|3|23|09|21q21.3|MIR155, BIC, MIRN155|C|Micro RNA 155||609337|REc|||| | ||
21.28|4|2|12|21q21.3|N6AMT1|P|N6 adenine-specific DNA methyltransferase 1, putative||614553|REc|||| | ||
21.29|12|10|13|21q21.3|USP16, UBPM|P|Ubiquitin-specific protease 16||604735|REc|||| | ||
21.30|4|24|08|21q22.11|MRPS6|P|Mitochondrial ribosomal protein S6||611973|R, REc|||| | ||
21.31|5|28|13|21q22.3|FAM3B|P|Family with sequence similarity 3, member B||608617|REc|||| | |16(Fam3b)|
21.32|8|20|08|21q22|FEB7|P|Febrile seizures, familial, 7||611515|Fd|max lod at D21S1910||Febrile seizures, familial, 7 (2)| | ||
21.33|3|1|94|21q21.3|GRIK1, GLUR5|C|Glutamate receptor, ionotropic, kainate 1||138245|REc, REa, A, Fd|||| | |16(Glur5)|
21.34|12|27|01|21q22.11|HUNK|L|Hormonally upregulated NEU-associated kinase||606532|H|||| | |16(Hunk)|
21.35|9|28|11|21q22.3|RRP1B, KIAA0179, NNP1L|P|Ribosomal RNA-processing protein 1, S. cerevisiae, homolog of, B||610654|Psh, REc|||| | ||
21.36|3|27|95|21q22.11|SLC5A3|P|Solute carrier family 5 (inositol transporter), member 3||600444|A|?role in Down syndrome||| | ||
21.37|6|24|05|21q22|TUKLS|P|Tukel syndrome||609428|Fd|max lod at D21S1259||Tukel syndrome (2)| | ||
21.38|11|28|01|21q21.3|BACH1|P|BTB and CNC homology 1||602751|REc|||| | ||
21.39|1|12|11|21q22.11|CRFB4, IBD25|C|Cytokine receptor, family II, member 4||123889|Fd, REn|35kb distal to IFNAR; D21S58||{Hepatitis B virus, susceptibility to}, 610424 (3); Inflammatory|bowel disease 25, early onset, autosomal recessive, 612567 (3) | |16(Crfb4)|
21.40|6|18|99|21q22.11|CRYZL1|P|Crystallin, zeta-like 1||603920|A|||| | ||
21.41|11|29|11|21q22.13|DYRK1A, MNBH, MNB, MRD7|C|Dual specificity tyrosine-(Y)-phosphorylation regulated kinase-1A|(\'minibrain\', Drosophila, homolog of)|600855|REn, H, REc|?triplicate state responsible for mental defect in Down syndrome||Mental retardation, autosomal dominant 7, 614104 (3)| | |16(mmb)|
21.42|6|3|94|21q22.11|GART, PRGS, PGFT|C|Phosphoribosylglycinamide formyltransferase (phosphoribosylglycinamide|synthetase; phosphoribosylaminoimidazole synthetase)|138440|S, H, REa|multifunctional protein: Ade(-)C, Ade(-)G, GART||| | |16(Prgs)|
21.43|2|20|03|21q22.13|HLCS, HCS|C|Holocarboxylase synthetase||609018|Psh, A|||Holocarboxylase synthetase deficiency, 253270 (3)| | |16(Hlcs)|
21.44|8|24|98|21q22.11|IFNAR1|C|Interferon, alpha, beta and omega, receptor 1||107450|S, D, A, REn|||| | |16(Ifrc)|
21.45|10|11|06|21q22.11|IFNAR2|C|Interferon, alpha, beta, and omega, receptor 2||602376|REa, REc|||{Hepatitis B virus, susceptibility to}, 610424 (3)| | ||
21.46|1|14|11|21q22.11|KCNE2, MIRP1, LQT6, ATFB4|C|Potassium voltage-gated channel, Isk-related family, member 2||603796|RE|||Long QT syndrome-6, 613693 (3); Atrial fibrillation, familial, 4,|611493 (3) | ||
21.47|11|23|98|21q22.13|KCNJ6, GIRK2, KCNJ7|P|Potassium inwardly-rectifying channel, subfamily J, member 6||600877|A|||| | |16(Kcnj6)|
21.48|2|10|05|21q22.11|MRAP, FALP, C21orf61, GCCD2, FGD2|C|Melanocortin 2 receptor accessory protein||609196|REc, Fd|||Glucocorticoid deficiency 2, 607398 (3)| | ||
21.49|9|21|12|21q22.11|SOD1, ALS1|C|Superoxide dismutase-1, soluble||147450|S, D, Fd|mid q22.1||Amyotrophic lateral sclerosis 1, 105400 (3)| | |16(Sod1)|
21.50|1|27|04|21q22.11|TCP10L|P|T-complex protein 10-like||608365|REc|||| | ||
21.51|2|15|96|21q22.11|TIAM1|P|T-cell lymphoma invasion and metastasis 1||600687|REc, H|||| | |16(Tiam1)|
21.52|9|16|12|21q22.11|URB1, NPA1, C21orf108, KIAA0539|P|URB1 ribosome biogenesis 1 homolog (S. cerevisiae)||608865|REc, R|||| | ||
21.53|12|13|95|21q22.11|ATP5O|P|ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit|(oligomycin sensitivity conferring protein)|600828|REa, A|||| | ||
21.54|7|15|99|21q22.11|IFNGR2, IFNGT1, IFGR2|C|Interferon gamma receptor-2 (interferon gamma transducer 1)||147569|S, A|||{Mycobacterial infection, atypical, familial disseminated},|209950 (3) | |16(Ifgr2)|
21.55|11|19|98|21q22.11|ITSN1, SH3D1A, SH3P17|P|Intersectin 1 (SH3 domain protein-1A)||602442|REc|||| | ||
21.56|1|14|11|21q22.11-q22.12|KCNE1, JLNS, LQT5, JLNS2|C|Potassium voltage-gated channel, Isk-related subfamily, member 1||176261|REa, A, Psh, Fd|||Jervell and Lange-Nielsen syndrome 2, 612347 (3); Long QT syndrome-5,|613695 (3) | ||
21.57|12|29|06|21q22.13|PIGP, DSCR5|P|Phosphatidylinositol glycan, class P||605938|REc|expressed in tongue||| | |16(Dscr5)|
21.58|9|24|08|21q22.12|RCAN1, DSCR1, MCIP1, CSP1|C|Regulator of calcineurin 1||602917|REc|||| | |16(Rcan1)|
21.59|8|29|96|21q22.11|SON|P|SON DNA-binding protein||182465|Psh|||| | ||
21.60|11|11|13|21q22.11|C21ORF59, CILD26|P|Chromosome 21 open reading frame 59||615494|REc|||Ciliary dyskinesia, primary, 26, 615500 (3)| | ||
21.61|5|26|13|21q22.11|CLDN8|P|Claudin 8||611231|REc|||| | ||
21.62|12|21|09|21q22.11|KRTAP11-1, HACL1|P|Keratin-associated protein 11-1||600064|REc, H|||| | |16(Krtap11-1)|
21.63|11|13|13|21q22.11|KRTAP13-1|P|Keratin-associated protein 13-1||608718|REc|||| | ||
21.64|9|29|10|21q21.3|LTN1, RNF160, KIAA0714|P|Listerin E3 ubiquitin protein ligase 1||613083|R, REc|||| | |16(Rnf160)|
21.65|3|11|08|21q22.11|OLIG2, PRKCBP2|P|Oligodendrocyte lineage transcription factor 2||606386|R, REc|||| | ||
21.66|8|24|98|21q22.12|CBR1|C|Carbonyl reductase 1||114830|REa, Fd, A|||| | |16(Cbr1)|
21.67|7|22|13|21q22.12|CLIC6, CLIC1L|P|Chloride intracellular channel 6||615321|REc|||| | ||
21.68|10|11|05|21q22.13|MAFD3, BPEO|P|Major affective disorder 3||609633|Fd|max lod at D21S1252||{Major affective disorder 3, early onset} (2)| | ||
21.69|3|22|06|21q22.13-qter|BMND6|P|Bone mineral density QTL 6||609876|Fd|max lod at D21S1446||[Bone mineral density QTL 6] (2)| | ||
21.70|9|12|96|21q22.12|CAF1A|P|Chromatin assembly factor I, p60 subunit||601245|REn, Psh|||| | ||
21.71|2|6|01|21q22.12|CBR3|P|Carbonyl reductase 3||603608|REc|||| | ||
21.72|8|25|09|21q22.12|DOPEY2, 21orf5, KIAA0933|P|Dopey family member 2||604803|REc|||| | ||
21.73|5|11|00|21q22.13|DSCR4, DSCRB|P|Down syndrome critical region gene 4||604829|REc|||| | ||
21.74|3|22|06|21q22.13|DSCR6, RIPPLY3|P|Down syndrome critical region gene 6||609892|REc|||| | ||
21.75|6|7|10|21q22.13|DSCR8, MMA1|P|Down syndrome critical region gene 8||613396|REc|||| | ||
21.76|12|29|06|21q22.2|JAM4|P|Junctional adhesion molecule 4||610638|R, REc|||| | ||
21.77|3|20|98|21q22.13|KCNJ15|P|Potassium inwardly-rectifying channel, subfamily J, member 15||602106|REf|||| | ||
21.78|7|31|97|21q22.13|SIM2|P|Single-minded, Drosophila, homolog of, 2||600892|REc|||| | ||
21.79|11|22|13|21q22.11|SYNJ1, PARK20|P|Synaptojanin 1||604297|A|||Parkinson disease 20, early-onset, 615530 (3)| | |16(Synj1)|
21.80|1|13|99|21q22.13|TTC3, TPRD|P|Tetratricopeptide repeat domain 3||602259|REc|||| | ||
21.81|1|15|08|21q22.2|C21orf24|P|Chromosome 21 open reading frame 24||611723|REc|||| | ||
21.82|4|17|98|21q22.2|DSCAM|P|Down syndrome cell adhesion molecule||602523|REc|||| | ||
21.83|3|28|90|21q22.3|S100B|C|S100 calcium-binding protein, beta (neural)||176990|REa, A|||| | |10(S100b)|
21.84|10|29|99|21q22.3|ABCG1, ABC8, WHITE1|P|ATP-binding cassette, subfamily G, member 1 (white, Drosophila,|homolog of)|603076|A|||| | |17(Abc8)|
21.85|2|25|98|21q22.3|ADARB1, RED1|C|Adenosine deaminase, RNA-specific, B1 (RED1, rat, homolog of)||601218|Psh, REc|||| | ||
21.86|9|2|12|21q22.3|AGPAT3, LPAAT3|C|1-acylglycerol-3-phosphate O-acyltransferase 3||614794|REc|||| | ||
21.87|3|11|09|21q22.3|AIRE, APECED, APS1|C|Autoimmune regulator||607358|Fd|||Autoimmune polyendocrinopathy syndrome , type I, with or without|reversible metaphyseal dysplasia, 240300 (3) | ||
21.88|5|23|00|21q22.2|B3GALT5, GLCT5|P|UDP-galactose:beta-N-acetylglucosamine|beta-1,3-galactosyltransferase 5|604066|REc|||| | ||
21.89|2|20|01|21q22.2-q22.3|BACE2, ALP56, DRAP|C|Beta-site amyloid beta A4 precursor protein-cleaving enzyme 2|(Down syndrome region aspartic protease)|605668|REc, A|||| | ||
21.90|11|5|98|21q22.3|C21orf2|P|Chromosome 21 open reading frame 2||603191|REn|||| | ||
21.91|12|19|08|21q22.3|C21orf56|P|Chromosome 21 open reading frame 56||612412|REc|||| | ||
21.92|6|7|10|21q22.3|CBS|C|Cystathionine beta-synthase||613381|S, D, A, Fd|subtelomeric||Homocystinuria, B6-responsive and nonresponsive types, 236200 (3);|Thrombosis, hyperhomocysteinemic, 236200 (3) | |17(Cbs)|
21.93|7|1|11|21q22.13|CLDN14, DFNB29|C|Claudin 14||605608|REc, Fd|||Deafness, autosomal recessive 29, 614035 (3)| | ||
21.94|2|10|04|21q22.3|COL6A1, OPLL|C|Collagen VI, alpha-1 polypeptide||120220|REa, A, REn, Fd|||Bethlem myopathy, 158810 (3); Ullrich congenital muscular dystrophy,|254090 (3); {Ossification of the posterior longitudinal spinal ligaments}, 602475 (2)| |10(Col6a1)|
21.95|4|30|09|21q22.3|COL6A2|C|Collagen VI, alpha-2 polypeptide||120240|REa, A, REn, Fd|||Bethlem myopathy, 158810 (3); Ullrich congenital muscular dystrophy,|254090 (3); Myosclerosis, congenital, 255600 (3) | |10(Col6a2)|
21.96|5|28|08|21q22.3|COL18A1, KNO1|C|Collagen XVIII, alpha-1 polypeptide||120328|A, Fd|||Knobloch syndrome, type 1, 267750 (3)| | |10(Col18a1)|
21.97|5|24|13|21q22.3|CRYAA, CRYA1, CTRCT9|C|Crystallin, alpha A||123580|REa, A, RE, Fd|||Cataract 9, multiple types, 604219 (3)| | |17(Crya1)|
21.98|12|7|11|21q22.3|CSTB, STFB, EPM1, PME, EPM1A, ULD|P|Cystatin B (stefin B)||601145|REn|||Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg),|254800 (3) | ||
21.99|9|16|96|21q22.3|DCR, DSCR|C|Down syndrome chromosome region||190685|Ch|many genes are involved in this phenotype||Down syndrome (4)| | ||
21.100|8|29|07|21q22.3|DIP2, KIAA0184|C|Disco-interacting protein 2, Drosophila, homolog of||607711|REc|previously mapped to Chr.2||| | |10(Dip2)|
21.101|1|7|02|21q22.3|DNMT3L|P|DNA methyltransferase 3-like protein||606588|REc|||| | ||
21.102|2|1|01|21q22.13|DSCR3, DSCRA|P|Down syndrome critical region gene 3||605298|REn|||| | ||
21.103|10|15|94|21q22.2|ERG|C|Erythroblastosis virus E26, avian, (v-ets) oncogene related||165080|REa, Fd, A|fused with EWS in Ewing sarcoma, with FUS in leukemia||| | ||
21.104|7|6|99|21q22.3|ES1, HES1, GT335, C21orf33|C|ES1, zebrafish, protein, homolog of||601659|REc|||| | ||
21.105|3|18|91|21q22.2|ETS2|C|Oncogene ETS-2||164740|REa, A, Fd|proximal q22.3||| | |16(Ets2)|
21.106|8|22|03|21q22.3|FTCD|C|Formiminotransferase cyclodeminase||606806|R|||Glutamate formiminotransferase deficiency, 229100 (3)| | |10(Ftcd)|
21.107|8|28|02|21q22.2|HMGN1, HMG14|C|High-mobility group nucleosomal binding protein 1||163920|REa, Fd, A|||| | ||
21.108|4|9|96|21q22.3|HPE1|P|Holoprosencephaly-1, alobar||236100|Ch, REa|||Holoprosencephaly-1 (2)| | ||Johnson (1976); Munke (1988)
21.109|10|19|97|21q22.3|HRMT1L1, PRMT2|P|HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1||601961|REa, REc|||| | ||
21.110|2|6|01|21q22.3|HSF2BP|P|Heat-shock transcription factor 2-binding protein||604554|REc|||| | ||
21.111|8|25|09|21q22.3|ICOSLG, B7H2, GL50, B7RP1|P|Inducible T-cell co-stimulator ligand||605717|R, REc|||| | ||
21.112|12|26|13|21q22.3|MCM3AP, MAP80, GANP|C|Minichromosome maintenance 3-associated protein, 80-kD||603294|R, A|||| | ||
21.113|2|6|01|21q22.3|PDXK, PNK, PKH|P|Pyridoxal kinase||179020|REc|||| | ||
21.114|5|24|13|21q22.3|POFUT2, C21Orf80, KIAA0958|C|Protein O-fucosyltransferase 2||610249|R, REc|||| | ||
21.115|1|23|96|21q22.3|ITGB2, CD18, LCAMB, LAD|C|Integrin, beta-2 (antigen CD18 (p95), lymphocyte function-associated|antigen-1; macrophage antigen, beta polypeptide)|600065|S, A, Fd|common subunit for CR3, LFA1, and P150,95||Leukocyte adhesion deficiency, 116920 (3)| | |7(Ly15)|
21.116|4|24|96|21q22.3|LSS|P|Lanosterol synthase||600909|REa, REc|||| | ||
21.117|3|18|91|21q22.3|MX1, MX, IFI78|C|Myxovirus (influenza) resistance-1 (interferon induced protein p78)||147150|REa, D, Fd|||| | |16(Mx1)|
21.118|8|25|09|21q22.3|MX2|P|Myxovirus (influenza) resistance-2||147890|REa, REc|||| | |16(Mx2)|
21.119|1|27|11|21q22.3|NCRNA00163, NLC1A|P|Noncoding RNA 163||610259|Fd, REc|||| | ||
21.120|8|20|98|21q22.3|NDUFV3|C|NADH-ubiquinone oxidoreductase flavoprotein 3, 10kD||602184|A, REc|||| | ||
21.121|3|16|05|21q22.3|PCBP3|P|Poly(rC)-binding protein 3||608502|REc|||| | |10(Pcbp3)|
21.122|11|11|10|21q22.3|PCNT, PCNT2, KEN, SCKL4, MOPD2|C|Pericentrin||605925|Psh, A, Fd|||Microcephalic osteodysplastic primordial dwarfism, type II, 210720|(3) | ||
21.123|8|15|97|21q22.2|PCP4|C|Purkinje cell protein 4||601629|REc, Psh, A|||| | |16(Pcp4)|
21.124|6|18|99|21q22.3|PDE9A, HSPDE9A2|P|Phosphodiesterase 9A||602973|Psh, REc|||| | ||
21.125|3|18|91|21q22.3|PFKL|C|Phosphofructokinase, liver type||171860|S, D, Fd|||Hemolytic anemia due to phosphofructokinase deficiency (1)| | |17(Pfkl)|
21.126|6|18|99|21q22.3|PKNOX1|P|PBX/knotted 1 homeo box 1||602100|Psh, Fd, A|||| | |17(Pknox1)|
21.127|2|24|11|21q22.2|PLAC4|P|Placenta-specific gene 4||613770|REc|||| | ||
21.128|9|24|08|21q22.2|PSMG1, DSCR2, C21LRP|P|Proteasome (prosome, macropain) assembly chaperone 1||605296|REn|||| | ||
21.129|8|8|00|21q22.3|PTTG1IP, C21orf1, C21orf3, PBF|P|Pituitary tumor-transforming gene 1 protein-interacting protein||603784|A, TM|||| | ||
21.130|1|26|97|21q22.3|PWP2H, PWP2|P|PWP2 periodic tryptophan protein, yeast, homolog of||601475|RE|||| | ||
21.131|12|21|12|21q22.3|RIPK4, NKRD3, DIK, PPS2|P|Receptor-interacting serine-threonine kinase 4||605706|REc|||Popliteal pterygium syndrome 2, lethal type, 263650 (3)| | ||
21.132|11|1|13|21q22.3|RSPH1, TSGA2, TSA2, CILD24|P|Radial spoke head 1, Chlamydomonas, homolog of||609314|R|||Ciliary dyskinesia, primary, 24, 615481 (3)| | |17(Tsa2)|
21.133|8|23|09|21q22.12|RUNX1, CBFA2, AML1|C|Runt-related transcription factor 1 (aml1 oncogene)||151385|Ch, Fd|||Leukemia, acute myeloid, 601626 (3); Platelet disorder, familial,|with associated myeloid malignancy, 601399 (3) | ||
21.134|1|19|98|21q22.2|SH3GBR|P|SH3 domain binding glutamic acid-rich protein||602230|REc|||| | ||
21.135|10|17|95|21q22.3|SLC19A1, FOLT|P|Solute carrier family 19 (folate transporter), member 1||600424|REa, A|||| | ||
21.136|9|16|03|21q22.3|SLC37A1, G3PP|P|Solute carrier family 37 (glycerol-3-phosphate transporter), member 1||608094|REc|||| | ||
21.137|8|21|12|21q22.3|SIK1, SNF1LK, MSK|P|Salt-inducible kinase 1||605705|REc|||| | ||
21.138|8|25|04|21q22.3|SUMO3, SMT3H1|P|Small ubiquitin-like modifier 3||602231|REc|||| | ||
21.139|10|15|96|21q22.3|TFF1, BCEI|C|Trefoil factor 1 (breast cancer, estrogen-inducible sequence|expressed in)|113710|REa, A, Fd|||| | ||
21.140|8|24|98|21q22.3|TFF2, SML1|C|Trefoil factor 2 (spasmolytic protein-1)||182590|A, REn, REa|within 230kb of BCEI||| | ||
21.141|4|9|96|21q22.3|TFF3, ITF|C|Trefoil factor 3 (intestinal)||600633|Psh, A, REn|||| | |17(Tff3)|
21.142|2|25|98|21q22.3|TMEM1, EHOC1|C|Transmembrane protein 1||602103|REc|near PWP2H||| | ||
21.143|6|9|98|21q22.3|TMPRSS2|P|Transmembrane protease, serine 2||602060|Psh, REc|||| | ||
21.144|1|9|13|21q22.3|TMPRSS3, ECHOS1, DFNB8, DFNB10|C|Transmembrane protease, serine 3||605511|Fd, REc|||Deafness, autosomal recessive 8/10, 601072 (3)| | ||
21.145|6|18|99|21q22.3|TRPM2, TRPC7, KNP3|P|Transient receptor potential cation channel, subfamily M, member 2||603749|REf|||| | ||
21.146|10|25|12|21q22.3|TSPEAR, C21orf29, DFNB98|P|Thrombospondin-type laminin G domain and EAR repeats||612920|REc, Fd|||Deafness, autosomal recessive 98, 614861 (3)| | ||
21.147|9|28|96|21q22.3|U2AF1|P|U2(RNU2) small nuclear RNA auxillary factor 1||191317|A, REa|||| | ||
21.148|10|26|98|21q22.3|UBE2G2, UBC7|C|Ubiquitin-conjugating enzyme E2G 2||603124|Psh|||| | ||
21.149|3|16|01|21q22.3|UBASH3A|P|Ubiquitin-associated and SH3 domain-containing protein A||605736|REc|||| | ||
21.150|4|6|11|21q22.3|UMODL1|P|Uromodulin-like 1||613859|REc|||| | ||
21.151|5|25|01|21q22.3|WDR4|P|WD repeat-containing protein 4||605924|REf|||| | ||
21.152|5|5|99|21q22.2|WRB, CHD5|P|Tryptophan-rich basic protein||602915|REc, REn|||| | ||
21.153|10|23|87|Chr.21|BAS|L|Beta-adrenergic stimulation, response to||109670|D|||| | ||
21.154|10|23|87|Chr.21|HTOR|L|5-hydroxytryptamine oxygenase regulator||143460|D|||| | ||
22.1|4|26|90|22p12|RNR5|C|Ribosomal RNA-5||180454|A|||| | ||
22.2|8|20|92|22p|ZNF72|P|Zinc finger protein-72 (Cos8)||194546|REa|||| | ||
22.3|8|20|92|22p|ZNF73|P|Zinc finger protein-73 (Cos12)||194547|REa|||| | ||
22.4|3|13|07|22q12.2|UCRC|P|Ubiquinol-cytochrome C reductase complex, 7.2kD subunit||610843|R, REc|||| | ||
22.5|10|20|99|22q13.1|RPL3|P|Ribosomal protein L3||604163|REa, R|||| | ||
22.6|10|30|03|22q11|ACF|P|Asymmetric crying facies (Cayler cardiofacial syndrome)||125520|Fd|||Cayler cardiofacial syndrome (2)| | ||
22.7|11|27|94|22q12.1|ADRBK2, BARK2, GRK3|P|Adrenergic, beta, receptor kinase-2||109636|A|||| | ||
22.8|6|29|99|22q11.21|ARVCF|P|Armadillo repeat gene deleted in VCFS||602269|A, REc|?role in VCFS||| | ||
22.9|10|23|87|22q11|CECR, CES|C|Cat eye syndrome||115470|Ch, A, D|partial tetrasomy of 22q11||Cat eye syndrome (4)| | ||
22.10|10|26|98|22q11.21|CRKL|P|v-crk avian sarcoma virus CT10 oncogene homolog-like||602007|A|||| | ||
22.11|8|24|98|22q11.21|DGCR6|P|DiGeorge syndrome critical region 6||601279|REn|||| | ||
22.12|12|2|08|22q11.21|DGCR6L|P|DiGeorge syndrome critical region gene 6-like||609459|REc, REn|||| | ||
22.13|8|15|96|22q11.21|DVL, DVL1|P|Dishevelled, Drosophila, homolog-like||601225|Ch, REc|||| | ||
22.14|3|1|12|22q11.21|HCF2, HC2, SERPIND1, THPH10|C|Heparin cofactor II||142360|REb, REa|proximal to BCR||Thrombophilia due to heparin cofactor II deficiency, 612356 (3)| | ||
22.15|8|24|98|22q11.21|HIRA, TUPLE1|C|Histone cell cycle regulation defective, S. cerevisiae, homolog of, A|(Tup-like enhancer of split 1)|600237|A|?role in CATCH22||| | |16(Tuple1)|
22.16|4|5|05|22q13.2|NAGA|C|Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B)||104170|S, Ch|proximal to Ph1 break||Schindler disease, type I, 609241 (3); Kanzaki disease, 609242 (3);|Schindler disease, type III, 609241 (3) | ||
22.17|9|16|03|22q11.21|P2RXL1, P2XM, P2X6|P|Purinergic receptor P2X-like 1||608077|A|||| | ||
22.18|5|31|05|22q11.21|RTN4R, NOGOR|P|NOGO receptor (reticulon 4 receptor)||605566|REc|||{Schizophrenia, susceptibility to}, 181500 (3)| | ||
22.19|3|15|11|22q11.21|SCARF2, SREC2, VDEGS|P|Scavenger receptor class F, member 2||613619|REc|||Van den Ende-Gupta syndrome, 600920 (3)| | |16(Scarf2)|
22.20|5|6|13|22q11.21|SLC25A1, SLC20A3, CTP, D2L2AD|C|Solute carrier family 25 (mitochondrial citrate transporter), member 1||190315|REc, Psh, A|||Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)| | ||
22.21|5|4|12|22q11.23|SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15|C|SWI/SNF related, matrix associated, actin dependent regulator of|chromatin, subfamily b, member 1|601607|Ch, REc|||Rhabdoid tumors, somatic, 609322 (3); Rhabdoid predisposition|syndrome 1, 609322 (3); Mental retardation, autosomal dominant 15, 614608 (3) | ||
22.22|6|29|99|22q11.22|TOP3B|P|Topoisomerase, DNA, III, beta||603582|REc|||| | ||
22.23|12|29|09|22q11.21|TUBA8, TUBAL2|P|Tubulin, alpha 8||605742|R|||Polymicrogyria with optic nerve hypoplasia, 613180 (3)| | ||
22.24|2|1|01|22q11.23|VPREB3|P|Pre-B-lymphocyte gene 3||605017|A|||| | |10(Vpreb3)|
22.25|11|21|03|22q12.1|HSC20, HSCB, JAC1|P|HSC20, E. coli, homolog of||608142|REc|||| | ||
22.26|2|9|92|22q11-q12|LRE1, L1.2|C|Line-1.2 retrotransposable element||151626|REa, A|||| | ||
22.27|9|17|09|22q13.2|XRCC6, G22P1, TLAA, Ku70|C|X-ray repair, complementing defecting, in chinese hamster, 6||152690|REa, F|tight linkage to CYP2D||| | |15(Ku70)|
22.28|6|7|10|22q11.1|POTEH, POTE22, ACTBL1|P|POTE ankyrin domain family, member H||608913|REc, A|||| | ||
22.29|12|17|07|22q11.1|XKR3, XTES, XRG3|P|X Kell blood group precursor-related family, member 3||611674|REc|||| | ||
22.30|5|24|90|22q11.1-q11.2|GGT1, GTG|C|Gamma-glutamyltransferase-1||231950|A, S, F, RE|minor peak, q13.1||Glutathioninuria (1)| | ||
22.31|7|13|95|22q11.21|LZTR1|P|Leucine-zipper-like regulator-1||600574|RE|||| | ||
22.32|12|7|98|22q11.21|GGT2|P|Gamma-glutamyltransferase-2||137181|REn|||[Gamma-glutamyltransferase, familial high serum] (2)| | ||
22.33|8|28|97|22q11.23|ADORA2A|C|Adenosine A2a receptor||102776|REa, REl, Psh, A|incorrectly assigned to 11q||| | ||
22.34|7|18|02|22q11.21|ATP6V1E1, ATP6E|C|ATPase, H+ transporting, lysosomal, 31kD, V1 subunit E isoform 1||108746|REa, REc|||| | |6(Atp6e)|
22.35|12|3|98|22q11.21|BID|P|BH3-interacting domain death agonist||601997|Psh, D|||| | |6(Bid)|
22.36|4|14|10|22q11.23|CABIN1, CAIN|P|Calcineurin-binding protein 1||604251|REc|||| | ||
22.37|11|16|08|22q11.2|DEL22q11.2, C22DELq11.2|P|Chromosome 22q11.2 deletion syndrome, distal||611867|Ch|||Chromosome 22q11.2 deletion syndrome, distal (4)| | ||
22.38|1|20|09|22q11.2|DUP22q11.2|P|Chromosome 22q11.2 microduplication syndrome||608363|Ch|contiguous gene microduplication syndrome||Chromosome 22q11.2 microduplication syndrome (4)| | ||
22.39|1|20|11|22q11.2|DER22t8-22|P|Supernumerary der(22)t(8;22) syndrome||613700|Ch|||Supernumerary der(22)t(8-22) syndrome (4)| | ||
22.40|1|20|11|22q11.2|DER22t11-22|P|Emanuel syndrome (supernumerary der(22)t(11;22) syndrome)||609029|Ch|||Emanuel syndrome (4)| | ||
22.41|6|16|99|22q11.21|CDC45L, CDC45L2|C|Cell division cycle 45, S. Cerevisiae, homolog-like||603465|D, A, REc|||| | ||
22.42|2|26|03|22q11.1|CECR2|P|Cat eye syndrome chromosome region, candidate 1||607575|REc|||| | ||
22.43|2|26|03|22q11.21|CECR2, KIAA1740|P|Cat eye syndrome chromosome region, candidate 2||607576|REc|||| | |6(Cecr2)|
22.44|2|3|99|22q11.21|CLDN5, TMVCF, AWAL|P|Claudin-5 (transmembrane protein deleted in velocardiofacial syndrome)||602101|REc|||| | |16(Tmvcf)|
22.45|12|19|05|22q11.21|COMT|C|Catechol-O-methyltransferase||116790|S, D, A, REn|||{Schizophrenia, susceptibility to}, 181500 (3); {Panic disorder,|susceptibility to}, 167870 (3) | |16(Comt)|
22.46|5|12|99|22q11.21|CLTCL1, CLTD|P|Clathrin, heavy polypeptide-like 1||601273|RE|||| | |11(Cltd)|
22.47|8|3|99|22q11.23|DDT|P|D-dopachrome tautomerase||602750|Fd, A|||| | |10(Ddt)|
22.48|2|18|98|22q11.21|DGCR2, IDD|P|DiGeorge critical region gene 2 (integral membrane protein deleted|in DiGeorge syndrome)|600594|Ch|||| | |16(Idd)|
22.49|5|2|07|22q11.21|DGCR8|P|Digeorge syndrome critical region gene 8||609030|REc, Ch|||| | |16(Dgcr8)|
22.50|4|21|97|22q11.21|DGSI|P|DiGeorge syndrome critical region gene DGSI||601755|REc|||| | |16(Dgsi)|
22.51|8|25|09|22q12.2|EIF4ENIF1|P|Eukaryotic translation initiation factor 4E nuclear import factor 1||607445|R, REc|||| | ||
22.52|10|9|08|22q11.23|GGT1, GGT|P|Gamma-glutamyltransferase 1||612346|REc|||| | ||
22.53|10|9|08|22q11.23|GGT5|P|Gamma-glutamyltransferase 5||137168|REc|||| | ||
22.54|10|9|08|22q11.22|GGTLC2, GGTL4|P|Gamma-glutamyltransferase, light chain 2||612339|REc|||| | ||
22.55|10|9|08|22q11.21|GGTLC3|P|Gamma-glutamyltransferase, light chain 3||612340|REc|||| | ||
22.56|9|13|92|22q11.22|GNAZ|C|Guanine nucleotide-binding protein (G protein), alpha z polypeptide||139160|REa, A|||| | |10(Gnaz)|
22.57|2|21|07|22q11.21|GNB1L, WDR14|P|Guanine nucleotide-binding protein, beta-1-like||610778|REc|||| | |16(Gnb1l)|
22.58|9|21|11|22q11.21|GP1BB, BS, BDPLT1|C|Glycoprotein Ib, platelet, beta polypeptide||138720|REa, D|||Bernard-Soulier syndrome, type B, 231200 (3);|Giant platelet disorder, isolated, 231200 (3) | |16(Gp1bb)|
22.59|5|4|00|22q11.23|GSTT1|P|Glutathione S-transferase, theta-1||600436|A|||| | ||
22.60|3|27|95|22q11.23|GSTT2|P|Glutathione S-transferase theta-2||600437|REa, A|||| | ||
22.61|5|7|03|22q11.21|HIC2, HRG22, KIAA1020|P|Hypermethylated in cancer 2||607712|REc|||| | ||
22.62|4|15|08|22q11.2|IGLV@|C|Immunoglobulin lambda light chain variable gene cluster||147240|REa, A|many genes||| | ||
22.63|4|15|08|22q11.2|IGLJ@|C|Immunoglobulin lambda light chain joining gene cluster||147230|REa, A|nine J-C duplexes||| | ||
22.64|12|7|98|22q11.22|IGLC1, IGLC|C|Constant region of lambda light chains||147220|REa, A|several genes||| | |16(Igl1)|
22.65|9|13|99|22q11.21-q11.22|MAPK1, PRKM1, ERK2|C|Mitogen-activated protein kinase 1||176948|REa, A, H|||| | |16(Prkm1)|
22.66|1|27|11|22q11.21|MED15, PCQAP, TIG1, ARC105|P|Mediator complex subunit 15||607372|Ch|||| | |16(Pcqap)|
22.67|3|30|04|22q11.23|MIF|C|Macrophage migration inhibitory factor||153620|REa, A|previously assigned to chr.19||{Rheumatoid arthritis, systemic juvenile, susceptibility to},|604302 (3) | |10(Mif)|
22.68|7|13|94|22q11.23|MMP11, STMY3|P|Matrix metalloproteinase 11 (stromelysin 3)||185261|REa, A|||| | ||
22.69|9|15|11|22q12.3|MYH9, MHA, FTNS, DFNA17, BDPLT6|C|Myosin, heavy polypeptide-9, nonmuscle||160775|REa, A|||May-Hegglin anomaly, 155100 (3); Fechtner syndrome, 153640 (3);|Sebastian syndrome, 605249 (3); Deafness, autosomal dominant 17, 603622 (3); Epstein syndrome, 153650 (3); Macrothrombocytopenia and progressive|sensorineural deafness, 600208 (3) ||
22.70|3|6|12|22q11.2|OGS2, BBBG2, GBBB2|C|Opitz G syndrome, type II||145410|Ch|type I X-linked||Opitz GBBB syndrome, type II (4)| | ||
22.71|5|24|13|22q11.23|PIWIL3|P|PIWI-like 3||610314|REc|||| | ||
22.72|5|31|05|22q11.21|PRODH, PRODH2, SCZD4|C|Proline dehydrogenase (proline oxidase)||606810|D, A|||Hyperprolinemia, type I, 239500 (3); {Schizophrenia, susceptibility|to, 4}, 600850 (3) | ||
22.73|2|20|01|22q11.22-q11.23|RAB36|P|Ras family, member 36||605662|REc|||| | ||
22.74|9|2|08|22q11.23|RGL4, RGR|P|Ral guanine nucleotide dissociation stimulator-like 4||612214|REc|||| | ||
22.75|2|20|01|22q11.22|RTDR1|P|Rhabdoid tumor deletion region protein 1||605663|REc|||| | ||
22.76|2|28|03|22q11.21|SDF2L1|P|Stromal cell-derived factor 2-like 1||607551|REc|||| | ||
22.77|11|1|05|22q11.21|SEPT5, PNUTL1, CDCREL|C|Septin 5||602724|REn, Ch|just 5' of GP1BB||| | ||
22.78|8|19|13|22q11.23|SLC2A11, GLUT11|P|Solute carrier family 2 (facilitated glucose transporter), member 11||610367|REc|||| | ||
22.79|5|12|99|22q11.21|SLC7A4, CAT4|P|Solute carrier family 7 (cationic amino acid transporter, y+ system),|member 4|603752|A, REc|||| | ||
22.80|4|7|05|22q11.21|SLC25A18, GC2|P|Solute carrier family 25 (mitochondrial carrier, glutamate), member 18||609303|REc|||| | ||
22.81|9|19|05|22q11.21|SNAP29, CEDNIK|P|Synaptosomal-associated protein, 29kD||604202|R, REc|||Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar|keratoderma syndrome, 609528 (3) | ||
22.82|4|21|97|22q11.21|UFD1L|C|Ubiquitin fusion degradation 1-like||601754|REc, D, A|?role in CATCH22||| | ||
22.83|2|8|13|22q11.21|TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR|C|T-box 1||602054|REa, D, Ch|||Conotruncal anomaly face syndrome, 217095 (3); DiGeorge syndrome,|188400 (3); Velocardiofacial syndrome, 192430 (3); Tetralogy of Fallot, 187500 (3)| |16(Tbx1)|
22.84|3|4|02|22q11.21|TXNRD2, TRXR2, SELZ|P|Thioredoxin reductase 2||606448|REc|||| | |16(Txnrd2)|
22.85|12|21|09|22q11.23|UPB1, BUP1|P|Beta-ureidopropionase||606673|A|||Beta-ureidopropionase deficiency, 613161 (3)| | ||
22.86|6|27|02|22q11.21|USP18, UBP43, ISG43|P|Ubiquitin-specific protease 18||607057|A|||| | |6(Usp18)|
22.87|12|13|00|22q11.22|VPREB1, IGI, VPREB|P|Pre-B lymphocyte gene 1||605141|REa|||| | ||
22.88|9|16|03|22q11.21|YPEL1|C|Yippee-like 1||608082|A, REc|pseudogene on 9p24.3||| | |16(Ypel1)|
22.89|8|20|92|22q11.23|ZNF70|P|Zinc finger protein-70 (Cos17)||194544|REa|||| | ||
22.90|8|20|92|22q11.21|ZNF74|P|Zinc finger protein-74 (Cos52)||194548|REa|||| | ||
22.91|8|6|13|22q12.1|CRYBB1, CATCN3, CTRCT17|P|Crystallin, beta B1||600929|REc|||Cataract 17, multiple types, 611544 (3)| | |5(Crybb1)|
22.92|5|3|13|22q11.23|CRYBB2, CRYB2, CTRCT3, CCA2|C|Crystallin, beta-B2||123620|REa, A|2nd CRYB2 gene in same region||Cataract 3, multiple types, 601547 (3)| | |5(Crybb2)|
22.93|8|6|13|22q11.23|CRYBB3, CRYB3, CATCN2, CTRCT22|C|Crystallin, beta-B3||123630|RE|||Cataract 22, autosomal recessive, 609741 (3)| | |5(Crybb3)|
22.94|2|11|02|22q12.1|HPS4|P|HPS gene 4||606682|REc|||Hermansky-Pudlak syndrome 4, 614073 (3)| | |5(le)|
22.95|2|9|92|22q12.3|IL2RB|C|Interleukin-2 receptor, beta polypeptide||146710|REa, A, Fd, H|||| | |15(Il2rb)|
22.96|10|23|87|22q12.3|MB|C|Myoglobin||160000|REa, Fd|||| | ||
22.97|7|22|13|22q12.1|CRYBA4, CTRCT23|C|Crystallin, beta polypeptide A4||123631|REa, Fd|||Cataract 23, 610425 (3)| | ||
22.98|2|7|01|22q11.21|UBE2L3, UBCH7|P|Ubiquitin-conjugating enzyme E2L 3||603721|REa, A|pseudogenes on 12q12 and 19q13.1-q13.2||| | ||
22.99|8|25|09|22q12.2|INPP5J, PIB5PA, PIPP|P|Inositol polyphosphate-5-phosphatase J||606481|R, REc|||| | ||
22.100|12|18|07|22q12.2|PLA2G3, SPLA2III|P|Phospholipase A2, group III||611651|REc|||| | ||
22.101|2|22|13|22q11.2-q13.2|SMAJ|P|Spinal muscular atrophy, Jokela type||615048|Fd|max lod at D22S315||Spinal muscular atrophy, Jokela type (2)| | ||
22.102|6|29|99|22q12.3|MPST|P|Mercaptopyruvate sulfurtransferase||602496|REc|||| | ||
22.103|7|8|10|22q12.2|TCN2, TC2|C|Transcobalamin II||613441|F, S, D|linked to P1||Transcobalamin II deficiency, 275350 (3)| | |11(Tcn2)|
22.104|6|29|99|22q12.3|TST, RDS|P|Thiosulfate sulfurtransferase (Rhodanese)||180370|REc|||| | ||
22.105|12|5|13|22q11.23|BCR, CML, PHL, ALL|C|Breakpoint cluster region||151410|Ch, RE|Ph1=t(9;22) (q34.1;q11.21); fused with ABL in CML||Leukemia, chronic myeloid, 608232 (3); Leukemia, acute lymphocytic,|613065 (3) | |10(Bcr)|10(Bcr)
22.106|3|15|92|22q11.21|BCRL2|P|Breakpoint cluster region-like 2||113630|Ch, RE|||| | ||
22.107|3|15|92|22q11.23|BCRL3|P|Breakpoint cluster region-like 3||113640|Ch, RE|||| | ||
22.108|3|15|92|22q11.22|BCRL4|P|Breakpoint cluster region-like 4||113660|Ch, RE|||| | ||
22.109|5|24|13|22q11.21|GSC2, GSCL|C|Goosecoid homeobox 2||601845|REc|||| | ||
22.110|8|10|10|22q11.23|IGLL1, IGO, IGL5, VPREB2, AGM2|C|Immunoglobulin lambda-like polypeptide 1 (immunoglobulin omega|peptide)|146770|REa, Ch|between BCR2 and BCR4; distal to IGLC||Agammaglobulinemia 2, 613500 (3)| | ||
22.111|10|28|08|22q11.21|MICAL3, KIAA1364|P|Microtubule-associated monooxygenase, calponin and LIM|domains-containing 3|608882|R, REc|||| | ||
22.112|12|27|13|22q11.21|MIR185|P|Micro RNA 185||615576|REc|within first intron of C22orf25||| | ||
22.113|8|3|12|22q11.21|MRPL40, NLVCF, MRPL22|P|Mitochondrial ribosomal protein L40||605089|REc|||| | |16(Nlvcf)|
22.114|10|25|12|22q11.21|PEX26, PBD7A, PBD7B|C|Peroxisome biogenesis factor 26||608666|REc|||Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3);|Peroxisome biogenesis disorder 7B, 614873 (3) | ||
22.115|3|18|08|22q11.21|PI4KA, PIK4CA|P|Phosphatidylinositol 4-kinase, catalytic, alpha||600286|REc|||| | ||
22.116|2|28|03|22q11.21|PPIL2, CYP60|P|Peptidyl-prolyl isomerase-like 2||607588|R|||| | ||
22.117|8|8|13|22q11.21|RANBP1, HTF9A|P|RAN-binding protein 1||601180|REc|||| | ||
22.118|4|1|09|22q11.21|RIMBP3, RIMBP3A, KIAA1666|C|RIMS-binding protein 3||612699|REc, H|||| | |16(Rimbp3)|
22.119|4|1|09|22q11.21|RIMBP3B|P|RIMS-binding protein 3B||612700|REc, H|||| | |16(Rimbp3)|
22.120|4|1|09|22q11.21|RIMBP3C|P|RIMS-binding protein 3C||612701|REc, H|||| | |16(Rimbp3)|
22.121|4|23|09|22q11.21|TRMT2A, HTF9C|P|tRNA methyltransferase 2, S. cerevisiae, homolog of, A||611151|REc|||| | ||
22.122|1|22|07|22q11.21|TSSK2, STK22B|P|Testis-specific serine/threonine kinase 2||610710|REc|||| | |16(Tssk2)|
22.123|3|22|06|22q11.21|ZDHHC8, ZNF378, KIAA1292|P|Zinc finger DHHC domain-containing protein 8||608784|R, REc|||| | ||
22.124|1|21|11|22q11.21|MIR130B, MIRN130B|P|Micro RNA 130B||613682|REc|||| | ||
22.125|11|21|03|22q11.21-q12.1|DFNB40|P|Deafness, autosomal recessive 40||608264|Fd|||Deafness, autosomal recessive 40 (2)| | ||
22.126|9|9|13|22q11.22|MIR650|P|Micro RNA 650||615379|REc|||| | ||
22.127|8|25|09|22q11.22|PRAME, MAPE, OIP4|P|Preferentially expressed antigen in melanoma||606021|R, REc|||| | ||
22.128|5|5|11|22q11.1|IL17RA, IL17R, CANDF5|P|Interleukin 17 receptor A||605461|R|||Candidiasis, familial, 5, autosomal recessive, 613953 (3)| | |6(Il17r)|
22.129|5|24|13|22q11.23|DERL3|P|DER1-like domain family, member 3||610305|REc, R|||| | ||
22.130|9|6|11|22q11.23|SPECC1L, KIAA0376, OBLFC1|P|Sperm antigen with calponin homology and coiled-coil domains 1-like||614140|R, REc|||Facial clefting, oblique, 1, 600251 (3)| | ||
22.131|9|18|00|22q12.2|AP1B1, ADTB1, BAM22, CLAPB2|P|Adaptor-related protein complex 1, beta 1 subunit (adaptin, beta)||600157|D|||| | ||
22.132|11|23|09|22q12|BRV2|P|Vertigo, benign recurrent, 2||613106|Fd|||Vertigo, benign recurrent, 2 (2)| | ||
22.133|9|2|08|22q12.2|EWSR1, EWS|C|Ewing sarcoma breakpoint region-1||133450|Ch|t(11;22)(q24;q12); t(21;22)(q22;q12)||Ewing sarcoma, 612219 (3); Neuroepithelioma, 612219 (3)| | ||
22.134|7|11|07|22q12.2|GAS2L1, GAR22|P|Growth arrest-specific 2 like 1||602128|REc|||| | ||
22.135|1|28|13|22q12.3|HMOX1, HMOX1D|C|Heme oxygenase, decycling, 1||141250|Psh, A|||Heme oxygenase-1 deficiency, 614034 (3); {Pulmonary disease,|chronic obstructive, susceptibility to}, 606963 (3) | ||
22.136|2|14|13|22q12|KAZA1|P|Kala-azar (visceral leishmaniasis), susceptibility to, 1||608207|Fd|||{Kala-azar, susceptibility to, 1} (2)| | ||
22.137|6|16|99|22q13.1|MFNG|C|Manic fringe||602577|REa, R, A|||| | |15(Mfng)|
22.138|6|29|99|22q12.2|MTMR3|C|Myotubularin-related protein 3||603558|R, Psh, A, REc|||| | ||
22.139|9|22|04|22q12|MYP6|P|Myopia 6||608908|Fd|max lod at D22S685||Myopia-6 (2)| | ||
22.140|11|5|98|22q12.2|NIPSNAP1|P|4-nitrophenylphosphatase domain and nonneuronal SNAP25-like 1||603249|REn|||| | ||
22.141|5|7|03|22q12.2|OSBP2, ORP4, KIAA1664|P|Oxysterol-binding protein 2||606729|REc|||| | ||
22.142|5|19|09|22q12.2|PISD, PSD, PSSC|P|Phosphatidylserine decarboxylase||612770|REc|||| | ||
22.143|8|18|08|22q12.2|RASL10A, RRP22|P|Ras-like, family 10, member A||602220|REc|||| | ||
22.144|7|16|09|22q12.2|SEC14L3, TAP2|C|Sec14-like 3||612824|REc|||| | ||
22.145|7|16|09|22q12.2|SEC14L4, TAP3|P|Sec14-like 4||612825|REc|||| | ||
22.146|5|9|07|22q12|SQTL2|P|Smoking as a quantitative trait locus 2||611004|Fd|max lod at D22S315||{Smoking as a quantitative trait locus 2} (2)| | ||
22.147|5|5|09|22q12.2|THOC5, FMIP|P|THO complex 5||612733|REc, REn|||| | ||
22.148|10|30|08|22q12.1|XBP1, XBP2|C|X-box-binding protein-1||194355|REa|pseudogene on chr.5||{Major affective disorder-7, susceptibility to}, 612371 (3)| | ||
22.149|9|28|96|22q12.3|YWHAH, YWHA1|C|Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation|protein, eta polypeptide 22|113508|REb, A|||| | ||
22.150|4|4|05|22q12.2|ZNF278, PATZ, MAZR|P|Zinc finger protein-278||605165|REc, R|||| | ||
22.151|5|8|03|22q13.1|CBY, C22orf2, HS508I15A|P|Chibby||607757|R|||| | ||
22.152|6|22|05|22q12-q13|CDAGS|P|Craniosynostosis, anal anomalies, and porokeratosis syndrome||603116|Fd|||CDAGS syndrome (2)| | ||
22.153|10|22|95|22q13.1|CSNK1E|P|Casein kinase-1, epsilon||600863|A|||| | ||
22.154|3|31|09|22q12.3|FBXO7, FBX7, FBX, PKPS, PARK15|C|F-box only protein 7||605648|REc|||Parkinson disease 15, autosomal recessive, 260300 (3)| | |10(Fbxo7)|
22.155|2|28|03|22q13.1|GCAT, KBL|P|Glycine C-acetyltransferase||607422|REc|||| | ||
22.156|3|15|10|22q12-q13|HCHGQ3|P|Hematocrit/hemoglobin quantitative trait locus 3||613284|Fd|associated with rs855791||[Hematocrit/hemoglobin quantitative trait locus 3] (2)| | ||
22.157|6|8|01|22q12.2|RFPL1|P|RET finger protein-like 1||605968|REc|||| | ||
22.158|7|2|01|22q12.2|RFPL1S|P|Ret finger protein-like 1, antisense||605972|REc|||| | ||
22.159|6|8|01|22q12.3|RFPL2|P|RET finger protein-like 2||605969|REc|||| | ||
22.160|6|8|01|22q12.3|RFPL3|P|RET finger protein-like 3||605970|REc|||| | ||
22.161|7|2|01|22q12.3|RFPL3S|P|Ret finger protein-like 3, antisense||605971|REc|||| | ||
22.162|5|10|11|22q13.1|SUN2, UNC84B, KIAA0668|C|SAD1 and UNC84 domain-containing protein 2||613569|REc, R|||| | ||
22.163|5|30|08|22q12.3|TMPRSS6, IRIDA|C|Transmembrane protease, serine 6 (matriptase 2)||609862|REn, Fd|||Iron-refractory iron deficiency anemia, 206200 (3)| | ||
22.164|6|19|02|22q13.1|TOMM22, TOM22|P|Translocase of outer mitochondrial membrane 22, yeast, homolog of||607046|REc|||| | ||
22.165|1|2|03|22q13.1|GTPBP1, GP1|P|GTP-binding protein 1||602245|R, REc|||| | |15(Gtpbp1)|
22.166|4|25|93|22q13.1|LGALS1|C|Lectin, galactose-binding, soluble, 1||150570|A|||| | |15(Lgals1)|
22.167|3|15|05|22q13.31|PPARA, PPAR|P|Peroxisome proliferator-activated receptor-alpha||170998|REa, Fd|||{Hyperapobetalipoproteinemia, susceptibility to} (3)| | ||
22.168|3|18|91|22q12.3|PVALB|C|Parvalbumin||168890|REa, D, H|?role in DiGeorge syndrome||| | |15(Pva)|
22.169|11|2|04|22q13.1|APOBEC3F|P|Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3F||608993|REc, A|||| | ||
22.170|5|22|03|22q13.1|APOBEC3G, MDS019, CEM15, FLJ12740|P|Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3G||607113|A, REc|||| | ||
22.171|2|1|01|22q13.1|GRAP2, GRID|P|GRB2-related adaptor protein 2||604518|REc|||| | ||
22.172|8|27|01|22q12.2|PES1, PES|P|Pescadillo, zebrafish, homolog of, 1||605819|REc|||| | |11(Pes1)|
22.173|8|4|09|22q12.1|CHEK2, RAD53, CHK2, CDS1, LFS2|P|Checkpoint kinase 2, S. pombe, homolog of|(RAD53, S. cerevisiae, homolog of)|604373|REc|||Li-Fraumeni syndrome, 609265 (3); Osteosarcoma, somatic, 259500 (3);|{Breast cancer, susceptibility to}, 114480 (3); {Prostate cancer, familial, susceptibility to}, 176807 (3); {Breast and colorectal cancer, susceptibility|to} (3) ||
22.174|2|21|06|22q12.1|KREMEM1, KRM1|P|Kringle domain-containing transmembrane protein 1||609898|R, REc|||| | ||
22.175|11|2|11|22q12.1|MIAT, C22orf35|P|MIAT gene||611082|REc|||{Myocardial infarction, susceptibility to}, 608446 (3)| | ||
22.176|4|30|03|22q12.1|MYO18B|P|Myosin XVIIIB||607295|REc|||| | ||
22.177|8|25|09|22q12.1|PITPNB|P|Phosphatidylinositol transfer protein, beta||606876|R, REc|||| | ||
22.178|9|30|02|22q12.1|SEZ6L|P|Seizure-related 6-like||607021|Ch, REc|||| | ||
22.179|1|27|11|22q12.1|SRRD|P|SRR1 domain-containing protein||602254|REc|||| | ||
22.180|5|11|09|22q12.1|TFIP11, TIP39, NTR1|P|Tuftelin-interacting protein 11||612747|REc|||| | |5(Tfip11)|
22.181|10|14|98|22q12.1|TPST2|P|Tyrosylprotein phosphotransferase 2||603126|REc|||| | ||
22.182|3|14|13|22q12.1|TTC28, TPRBK, KIAA1043|P|Tetratricopeptide repeat domain-containing protein 28||615098|REc|||| | ||
22.183|6|10|08|22q12.1|ZNRF3, KIAA1133|P|Zinc finger and ring finger protein 3||612062|REc|||| | ||
22.184|11|21|02|22q12.1-q12.2|ITS|P|Insulinoma tumor suppressor gene locus||606960|LOH|||Insulinoma (1)| | ||
22.185|9|28|93|22q12.2|LIF, HILDA|C|Leukemia inhibitory factor (cholinergic differentiation factor)||159540|REa, A, RE|distal to ES||| | |11(Lif)|
22.186|9|28|93|22q12.2|OSM|C|Oncostatin M||165095|REa, REn|10kb from LIF||| | ||
22.187|1|22|07|22q12.1-q13.1|OPA5|P|Optic atrophy 5||610708|Fd|between D22S1148 and D22S283||Optic atrophy 5 (2)| | ||
22.188|1|12|95|22q12.3|TIMP3, SFD|C|Tissue inhibitor of metalloproteinase-3||188826|REa, A, Fd|||Sorsby fundus dystrophy, 136900 (3)| | ||
22.189|3|3|03|22q12.2|SEC14L2, TAP, KIAA1186|C|Sec14-like 2||607558|R, REc|||| | ||
22.190|4|25|06|22q12.2|TBC1D10A, EPI64|P|TBC1 domain family, member 10A||610020|REc|||| | ||
22.191|9|8|11|22q12.2|ASCC2, p100|P|Activating signal cointegrator 1 complex, subunit 2||614216|REc|||| | ||
22.192|2|7|07|22q12.2|GAL3ST1, CST|P|Galactose-3-O-sulfotransferase 1||602300|R, REc|||| | ||
22.193|5|25|13|22q12.2|LIMK2|P|LIM domain kinase 2||601988|REc|||| | ||
22.194|5|24|13|22q12.2|MTFP1|P|Mitochondrial fission process 1||610235|REc|||| | ||
22.195|6|22|99|22q12.2|NEFH|C|Neurofilament, heavy polypeptide||162230|A, RE, D|||{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)| | |11(Nfh)|
22.196|1|29|03|22q12.2|NF2|C|Merlin||607379|RE, F, Ch, D, Fd|loss of heterozygosity||Neurofibromatosis, type 2, 101000 (3); Meningioma, NF2-related,|somatic, 607174 (3); Schwannomatosis, 162091 (3) | |11(Nf2)|Arai (1992); Narod (1992)
22.197|8|25|09|22q12.2|SF3A1, SF3A120, SAP114, PRP21|P|Splicing factor 3A, subunit 1||605595|REa, REc|||| | ||
22.198|5|12|09|22q12.2|SFI1, KIAA0542|P|SFI1, yeast, homolog of||612765|R, REc|||| | ||
22.199|4|13|07|22q12.2|SELM, SEPM|P|Selenoprotein M||610918|REc|||| | ||
22.200|1|15|13|22q12.2|TUG1|P|Taurine-upregulated gene 1, noncoding||614971|REc|||| | ||
22.201|6|4|13|22q12.2-q12.3|DEPDC5, KIAA0645, FFEVF|C|DEP domain-containing protein 5||614191|Psh, REc, Fd|||Epilepsy, familial focal, with variable foci, 604364 (3)| | ||
22.202|12|5|11|22q12.3|CSF2RB, SMDP5|P|Colony-stimulating factor-2 receptor, beta, low-affinity||138981|Psh, A|||Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)| | ||
22.203|6|29|99|22q13.1|GALR3|P|Galanin receptor 3||603692|REc, A|||| | ||
22.204|4|27|00|22q13.1|MAFF|P|v-MAF avian musculoaponeurotic fibrosarcoma oncogene family, protein F||604877|REc|||| | ||
22.205|10|25|10|22q12.3|APOL1, FSGS4|C|Apolipoprotein L1||603743|R, REc|||{Glomerulosclerosis, focal segmental, 4, susceptibility to},|612551 (3); {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)| ||
22.206|12|11|02|22q12.3|APOL2|C|Apolipoprotein L2||607252|R, REc|||{Schizophrenia}, 181500 (1)| | ||
22.207|12|11|02|22q12.3|APOL3|C|Apolipoprotein L3||607253|R, REc|||| | ||
22.208|12|11|02|22q12.3|APOL4|C|Apolipoprotein L4||607254|R, REc|||{Schizophrenia}, 181500 (1)| | ||
22.209|12|11|02|22q12.3|APOL5|C|Apolipoprotein L5||607255|R, REc|||| | ||
22.210|12|11|02|22q12.3|APOL6|C|Apolipoprotein L6||607256|R, REc|||| | ||
22.211|12|10|12|22q12.3|C1QTNF6, CTFP6|P|C1q- and tumor necrosis factor-related protein 6||614910|REc|||| | ||
22.212|4|26|11|22q12.3|C22orf28, HSPC117|P|Chromosome 2 open reading frame 28||613901|REc|||| | ||
22.213|3|24|11|22q12.3|FOXRED2, ERFAD|P|FAD-dependent oxidoreductase domain-containing protein 2||613777|REc|||| | ||
22.214|2|29|08|22q12.3|HPC6|P|Prostate cancer, hereditary, 6||609558|Fd|between D22S1265 and D22S277||{Prostate cancer, susceptibility to}, 176807 (2)| | ||
22.215|6|2|08|22q12.3|ISX, RAXLX|P|Intesting-specific homeobox||612019|REc|||| | ||
22.216|6|10|09|22q12.3|RASD2, RHES, TEM2|P|RASD family, member 2||612842|REc|||| | ||
22.217|5|28|99|22q12.2|SMTN|P|Smoothelin||602127|A, R|||| | |11(Smtn)|
22.218|8|20|98|22q12.3|SYN3|P|Synapsin III||602705|REn|?relation to schizophrenia||| | ||
22.219|9|30|09|22q13.1|CYTH4, PSCD4, CYT4|P|Cytohesin 4||606514|REc|||| | ||
22.220|11|10|10|22q12.3|LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6|C|Acetylglucosaminyltransferase-like protein||603590|D, REc|||Muscular dystrophy-dystroglycanopathy (congenital with brain and eye|anomalies), type A, 6, 613154 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)| |8(Large)|
22.221|1|20|11|22q12.3-q13.1|MDNS|P|Mammary-digital-nail syndrome||613689|Fd|max lod at D22S277, D22S1142, D22S683, D22S283||Mammary-digital-nail syndrome (2)| | ||
22.222|11|11|13|22q13.1|PDGFB, SIS, IBGC5|C|Platelet-derived growth factor, beta polypeptide (oncogene SIS)||190040|REa, Fd|fused with COL1A1 in DFSP||Meningioma, SIS-related, 607174 (3); Dermatofibrosarcoma protuberans,|607907 (3); Basal ganglia calcification, idiopathic, 5, 615483 (3) | |15(Pdgfb)|
22.223|3|22|06|22q13.1|PICK1, PRKCABP|P|Protein interacting with C kinase 1||605926|REc|||| | ||
22.224|10|27|03|22q13.1|RAC2|C|Ras-related C3 botulinum toxin substrate 3 (rho family, small|GTP-binding protein Rac2)|602049|A|||Neutrophil immunodeficiency syndrome, 608203 (3)| | ||
22.225|3|16|99|22q12.1|MN1, MGCR|P|Meningioma chromosome region||156100|Fd, Ch|fused with TEL in AML||Meningioma, 607174 (3)| | ||
22.226|8|23|02|22q13.1|APOBEC3A, PHRBN|P|Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A|(phorbolin 1)|607109|A, REc|||| | ||
22.227|8|23|02|22q13.1|APOBEC3B, PHRBNL|P|Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B||607110|A, REc|||| | ||
22.228|5|22|03|22q13.1|APOBEC3C|P|Apolipoprotein B mRNA-editing enzyme, catalytic polypeptide-like 3C||607750|REn, A|||| | ||
22.229|8|30|07|22q13.31|ATXN10, SCA10|C|Ataxin 10||611150|Fd|ATTCTn repeat in intron 9||Spinocerebellar ataxia 10, 603516 (3)| | ||
22.230|6|1|12|22q12.3|BPIFC, BPIL2|P|BPI fold-containing protein, family C||614109|Psh, R, REc|||| | ||
22.231|2|22|00|22q13.33|BRL|P|BR140-like gene||604589|A|||| | ||
22.232|5|24|13|22q13.31|CERK, KIAA1646|P|Ceramide kinase||610307|REc|||| | ||
22.233|7|22|11|22q13.33|CHKB, CHKL, CKEKB, EKB, MDCMC|P|Choline kinase, beta||612395|REc|||Muscular dystrophy, congenital, megaconial type, 602541 (3)| | ||
22.234|10|13|09|22q13.33|CPT1B|P|Carnitine palmitoyltransferase I, muscle||601987|A, REn|||| | ||
22.235|11|20|13|22q13|DUP22q13, C22DUPq13|P|Chromosome 22q13 duplication syndrome||615538|Ch|||Chromosome 22q13 duplication syndrome, 615538 (4)| | ||
22.236|2|19|13|22q13.2|EP300, RSTS2|P|E1A-binding protein, 300kD||602700|A|||Rubinstein-Taybi syndrome 2, 613684 (3); Colorectal cancer,|somatic, 114500 (3) | ||
22.237|3|20|94|22q13|GAD3|L|Glutamate decarboxylase-3||138276|A|data retracted||| | |15(Gad3)|
22.238|5|26|13|22q13.33|IL17REL|P|Interleukin 17 receptor E-like||613414|REc|||| | ||
22.239|5|22|03|22q13.33|MAPK8IP2, JIP2, IB2|P|Mitogen-activated protein kinase 8-interacting protein 2||607755|REc|||| | ||
22.240|3|26|07|22q13|MENAQ1|P|Menarche, age at, QTL 1||610873|Fd|max lod at UT7136||{Menarche, age at, QTL} (2)| | ||
22.241|3|23|09|22q13.31|MIRLET7B, LET7B, MIRNLET7B|P|Micro RNA Let7B||611249|R, REn|||| | ||
22.242|6|28|01|22q13.1-q13.2|MKL1, AMKL, MAL|P|Megakaryoblastic leukemia 1 gene||606078|Ch|fusion with RBM15||Megakaryoblastic leukemia, acute (3)| | ||
22.243|6|7|10|22q13|NAFLD1|P|Fatty liver disease, nonalcoholic, susceptibility to, 1||613282|Fd|associated with rs738409||{Fatty liver disease, nonalcoholic, susceptibility to, 1} (2)| | ||
22.244|12|4|08|22q13|NRCLP4|P|Narcolepsy 4||612417|Fd|associated with rs5770917||{Narcolepsy 4} (2)| | ||
22.245|3|9|10|22q13.31|PNPLA3, ADPN|P|Patatin-like phospholipase domain-containing protein 3||609567|REc|||| | ||
22.246|8|21|07|22q13.1|RNU86|P|RNA, U86 small nucleolar||611069|REc|||| | ||
22.247|7|25|13|22q13.33|SCO2, CEMCOX1, MYP6|P|SCO2, S. cerevisiae, homolog of||604272|REc|||Cardioencephalomyopathy, fatal infantile, due to cytochrome c|oxidase deficiency 1, 604377 (3); Myopia 6, 608908 (3) | ||
22.248|1|22|08|22q13.2|SCUBE1|P|Signal peptide-, CUB domain-, and EGF-like domains-containing protein|1|611746|REc, H|||| | |15(Scube1)|
22.249|3|26|02|22q13.2|SLC25A17, PMP34|P|Solute carrier family 25 (mitochondrial carrier), member 17|(peroxisomal membrane protein, 34kD)|606795|REc|||| | ||
22.250|8|21|07|22q13.1|SNORD43, RNU43|P|Small nucleolar RNA, C/D box, 43||611068|REc|||| | ||
22.251|8|21|07|22q13.1|SNORD83A, RNU83A|P|Small nucleolar RNA, C/D box, 83A||611070|REc|||| | ||
22.252|8|21|07|22q13.1|SNORD83B, RNU83B|P|Small nucleolar RNA, C/D box, 83B||611071|REc|||| | ||
22.253|3|16|10|22q13.1|SOX10, WS4, WS4C, PCWH|C|SRY (sex-determining region Y)-box-10||602229|REn|megacolon and spotting in mice||Waardenburg syndrome, type 4C, 613266 (3); Waardenburg syndrome,|type 2E, with or without neurologic involvement, 611584 (3); PCWH syndrome, 609136 (3)| |15(Sox10, Dom)|
22.254|1|10|96|22q13.2|SREBF2|P|Sterol regulatory element binding transcription factor 2||600481|REa, A|||| | ||
22.255|3|3|03|22q13.2|ST13, P48, HOP|P|Suppression of tumorigenicity 13||606796|A|||| | ||
22.256|2|7|01|22q13.1|SYNGR1|P|Synaptogyrin 1||603925|REc|||| | ||
22.257|11|17|94|22q13.2|TEF|P|Thyrotroph embryonic factor||188595|A|||| | |15(Tef)|
22.258|10|28|11|22q13.31|TRMU, MTO2, TRNT1|P|tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase||610230|REc|||{Deafness, mitochondrial, modifier of}, 580000 (3); Liver failure,|transient infantile, 613070 (3) | |15(Trmu)|
22.259|6|9|98|22q13.31|WNT7B|P|Wingless-type MMTV integration site family, member-7B||601967|A|||| | ||
22.260|11|8|03|22q13.1|ADSL|C|Adenylosuccinate lyase||608222|S, REa, A|ade(-)I; bifunctional||Adenylosuccinase deficiency, 103050 (3)| | |15(Adsl)|Jaeken (1988); Stone (1992)
22.261|4|29|10|22q13.1|ANKRD54, LIAR|P|Ankyrin repeat domain-containing protein 54||613383|REc, H|||| | |15(Ankrd54)|
22.262|5|22|07|22q13.1|APOBEC3H, ARP10|C|Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H||610976|REc, REn|||| | ||
22.263|2|10|09|22q13.1|ATF4, CREB2, TAXREB67|P|Activating transcription factor 4||604064|R, REc|||| | ||
22.264|3|22|07|22q13.1|CACNA1I, KIAA1120|C|Calcium channel, voltage-dependent, T type, alpha-1I subunit||608230|REc|||| | ||
22.265|10|3|11|22q12.3|CACNG2, MRD10|C|Calcium channel, voltage-dependent, gamma-2 subunit|(stargazin)|602911|REc|||Mental retardation, autosomal dominant 10, 614256 (3)| | |15(Cacng2)|
22.266|8|25|09|22q13.1|CARD10, CARMA3, BIMP1|P|Caspase recruitment domain-containing protein 10||607209|R, REc|||| | ||
22.267|2|16|04|22q13.1|CBX7|P|Chromobox homolog 7||608457|R, REc|||| | ||
22.268|8|25|09|22q13.1|CDC42EP1, MSE55, BORG5, CEP1|P|CDC42 effector protein 1||606084|R, REc|||| | ||
22.269|1|20|09|22q13.2|CYP2D6, CPD6, P450DB1|C|Cytochrome P450, subfamily IID, polypeptide 6||124030|F, Fd, Psh, A|||{Debrisoquine sensitivity}, 608902 (3); {Codeine sensitivity}, 608902|(3) | |15(Cyp2d)|
22.270|5|24|13|22q13.1|DNAL4|P|Dynein, axonemal, light chain 4||610565|REc|||| | |15(Dnal4)|
22.271|2|19|04|22q13.1|DDX17, RH70, P72|P|DEAD/H box-17||608469|R, REc|||| | ||
22.272|10|3|07|22q12.3|EIF3D, EIF3S7|P|Eukaryotic translation initiation factor 3, subunit D||603915|REc|||| | ||
22.273|8|25|98|22q13.1|H1F0, H1FV|P|H1 histone family, member 0||142708|Psh, A|||| | ||
22.274|5|18|95|22q13.1|KCNJ4, HIR|P|Potassium inwardly-rectifying channel, subfamily J, member 4||600504|Psh, A|||| | ||
22.275|2|21|03|22q12.3|HMGXB4, HMG2L1|P|HMG box domain-containing 4||604702|REc|||| | ||
22.276|7|23|13|22q13.1|JOSD1, KIAA0063|P|Josephin domain-containing protein 1||615323|REc, Psh|||| | ||
22.277|4|18|05|22q13.1|LGALS2|P|Lectin, galactoside-binding, soluble, 2||150571|A, REc|||{Myocardial infarction, susceptibility to}, 608446 (3)| | ||
22.278|8|25|09|22q13.1|MAP3K7IP1, TAB1|P|Mitogen-activated protein kinase kinase kinase 7-interacting protein 1||602615|R, REc|||| | ||
22.279|6|29|99|22q12.3|MCM5, CDC46|P|Minichromosome maintenance, S. cerevisiae, homolog of, 5||602696|A|||| | ||
22.280|12|10|13|22q13.1|MEIF1, SMCR7L, MID51|P|Mitochondiral elongation factor 1||615497|REc|||| | ||
22.281|3|9|00|22q13.1|MGAT3, GNT3|P|Beta-1,4-mannosyl-glycoprotein|beta-1,4-N-acetylglucosaminyltransferase|604621|A|||| | ||
22.282|9|8|11|22q12.3|NCF4, P40PHOX|P|Neutrophil cytosolic factor-4||601488|Psh, A|||Granulomatous disease, chronic, autosomal recessive, cytochrome|b-positive, type III, 613960 (3) | ||
22.283|12|3|98|22q13.2|NDUFA6|C|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6||602138|R|previously assigned to 21q22||| | ||
22.284|3|9|10|22q13.1|PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14|C|Phospholipase A2, group VI||603604|REc, Fd|||Infantile neuroaxonal dystrophy 1, 256600 (3); Neurodegeneration|with brain iron accumulation 2B, 610217 (3); Parkinson disease 14, 612953 (3)| ||
22.285|5|19|97|22q13.2|PMM1|P|Phosphomannomutase 1||601786|REa, A|||| | ||
22.286|2|7|01|22q13.1|POLR2F|P|Polymerase II, RNA, subunit F||604414|REc|||| | ||
22.287|7|10|08|22q12.3|RBM9, FOX2, RTA|C|RNA-binding motif protein 9||612149|R, REc|||| | ||
22.288|6|30|06|22q13.1|RPS19BP1, S19BP, MGC52010|P|Ribosomal protein S19 binding protein 1||610225|REc, H|||| | |15(Rps19bp1)|
22.289|5|24|13|22q13.1|SGSM3, RUTBC3, MAP, RUSC3|P|Small G protein signaling modulator 3||610440|R, REc|||| | ||
22.290|4|16|02|22q12.3|SLC5A1, SGLT1|C|Solute carrier family 5 (sodium/glucose transporter), member 1||182380|REa|||Glucose/galactose malabsorption, 606824 (3)| | ||
22.291|4|25|93|22q13.1|SSTR3|C|Somatostatin receptor-3||182453|REa|||| | |15(Sstr3)|
22.292|1|31|07|22q13.1|TNRC6B, KIAA1093|P|Trinucleotide repeat-containing gene 6B||610740|R, REc|||| | ||
22.293|11|19|13|22q12.3|TOM1|P|Target of MYB1, chicken, homolog of||604700|REn|||| | |8(Tom1)|
22.294|1|11|06|22q13.1|TRIOBP, KIAA1662|P|Trio- and F-actin-binding protein||609761|REc, Fd|||Deafness, autosomal recessive 28, 609823 (3)| | ||
22.295|3|15|07|22q13.2|TTLL1, KIAA0173|P|tubulin tyrosine ligase-like protein 1||608955|REc|||| | ||
22.296|12|15|10|22q13.2|TNFRSF13C, BAFFR, CVID4|P|Tumor necrosis factor receptor superfamily, member 13C||606269|REc|||Immunodeficiency, common variable, 4, 613494 (3)| | |15(Baffr)|
22.297|12|4|02|22q13.2|TOB2, KIAA1663|P|Transducer of erbb2, 2||607396|A|||| | ||
22.298|2|8|13|22q13.2|A4GALT, P1PK|P|Alpha 1,4-galactosyltransferase||607922|REc|||[Blood group, P1Pk system, p phenotype], 111400 (3); [Blood group,|P1Pk system, P(2) phenotype], 111400 (3); NOR polyagglutination syndrome, 111400 (3)| ||
22.299|4|20|12|22q13.2|ACO2, ICRD|C|Aconitase, mitochondrial||100850|S, Ch, REc|distal to Ph1 break||Infantile cerebellar-retinal degeneration, 614559 (3)| | ||
22.300|12|4|08|22q13.2|ARFGAP3|P|ADP-ribosylation factor GTPase-activating protein 3||612439|R, REc|||| | ||
22.301|7|20|12|22q13.2|DESI1, PPPDE2|P|Desumoylating isopeptidase 1||614637|REc|||| | ||
22.302|9|30|11|22q13.2|FAM109B, SES2, IPIP27B|P|Family with sequence similarity 109, member B||614240|REc|||| | ||
22.303|3|23|09|22q13.2|MIR33A, MIRN33A|P|Micro RNA 33A||612156|REc|||| | ||
22.304|1|29|07|22q13.2|NFAM1, CNAIP|P|NFAT activating protein with ITAM motif 1||608740|REc|||| | ||
22.305|2|1|11|22q13.2|NHP2L1|P|Non-histone chromosome protein 2, S. cerevisiae, like 1||601304|REc|previously assigned to 12q24.3 by FISH||| | ||
22.306|12|10|13|22q13.2|PACSIN2|P|Protein kinase C and casein kinase substrate in neurons 2||604960|REc|||| | ||
22.307|10|13|09|22q13.2|POLDIP3, SKAR, PDIP46|P|Polymerase delta-interacting protein 3||611520|R, REc|||| | ||
22.308|3|30|12|22q13.2|RBX1, ROC1|P|RING-box 1||603814|REc|||| | ||
22.309|12|7|03|22q13.2|SEPT3, SEP3|C|Septin 3||608314|REc|||| | ||
22.310|9|9|13|22q13.2|SERHL|P|Serine hydrolase-like||607979|REc|||| | ||
22.311|1|7|14|22q13.2|SMDT1, EMRE, C22orf32|P|Single-pass membrane protein with aspartate-rich tail 1||615588|REc|||| | ||
22.312|5|22|07|22q13.2|WBP2NL, PAWP|P|WWBP2 N-terminal-like protein||610981|REc|||| | ||
22.313|1|27|04|22q13.31|SULT4A1, BRSTL1|P|Sulfotransferase family 4A, member 1||608359|R, REc|||| | ||
22.314|3|9|04|22q13.2|BIK, NBK|P|Bcl2-interacting killer||603392|A|||| | ||
22.315|3|10|00|22q13.31|CELSR1|P|Cadherin EGF LAG seven-pass G-type receptor 1||604523|A|||| | |15(Celsr1)|
22.316|11|8|03|22q13.31|FBLN1|C|Fibulin 1||135820|A|||Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal|synostoses, 608180 (3) | |15(Fbln1)|
22.317|2|28|08|22q13.2|L3MBTL2, L3MBT|P|L3MBT-like 2||611865|REc|||| | |15(L3mbtl2)|
22.318|6|29|99|22q13.33|MAPK12, SAPK3, ERK3|P|Mitogen-activated protein kinase 12 (Stress-activated protein|kinase-3)|602399|A|||| | ||
22.319|6|7|10|22q13.2|MCHR1, GPR24, SLC1|C|Melanin-concentrating hormone receptor 1||601751|A, R|||| | ||
22.320|1|9|01|22q13.31|NUP50, NPAP60L, NPAP60|C|Nucleoporin, 50 kD||604646|H, REc|||| | |15(Npap60)|
22.321|5|4|00|22q13.31|PKDREJ|P|Polycystic kidney disease and sea urchin REJ homolog-like||604670|R|||| | ||
22.322|11|27|00|22q13.33|RABL2B|C|RAB-like 2B||605413|REc|||| | ||
22.323|3|28|12|22q13.33|SHANK3, PSAP2, PROSAP2, KIAA1650, DEL22q13.3, SCZD15|C|SH3 and multiple ankyrin repeat domains 3||606230|A|||Phelan-McDermid syndrome, 606232 (3); {Schizophrenia 15},|613950 (3) | ||
22.324|11|4|98|22q13.2|TCF20, SPBP, AR1|P|Transcription factor 20||603107|A, Psh|||| | ||
22.325|6|30|05|22q13.31|ARHGAP8, BPGAP1|C|GTPase-activating protein, RHO, 8||609405|REc, H|||| | |15(Arhgap8)|
22.326|8|25|09|22q13.1|GGA1|P|Golgi associated, gamma adaptin ear containing, ARF binding protein 1||606004|R, REc|||| | ||
22.327|1|20|11|22q13.31|GRAMD4, KIAA0767, DIP|P|Gram domain-containing protein 4||613691|REc|||| | ||
22.328|2|24|12|22q13.2|MCAT|P|Malonyl CoA:ACP acyltransferase, mitochondrial||614479|REc|||| | ||
22.329|3|23|09|22q13.31|MIRLET7A3, LET7A3, MIRNLET7A3|P|Micro RNA let7a3||612143|REc|||| | ||
22.330|3|16|10|22q13.2|MPPED1, C22orf1, 239AB|P|Metallophosphoesterase domain-containing protein 1||602112|REc|||| | ||
22.331|12|29|06|22q13.2|PANE1, C22orf18|P|Proliferation-associated nuclear element 1||610152|REc|||| | ||
22.332|10|29|09|22q13.31|PARVB|P|Parvin, beta||608121|REc|||| | ||
22.333|10|29|09|22q13.31|PARVG|P|Parvin, gamma||608122|REc|||| | ||
22.334|2|23|08|22q13.31|PNPLA5, GS2L|P|Patatin-like phospholipase domain-containing 5||611589|R, REc|||| | ||
22.335|6|30|05|22q13.31|PRR5, PP610|C|Proline-rich protein 5||609406|REc, H|||| | |15(Prr5)|
22.336|6|10|08|22q13.31|SAMM50, SAM50|P|Sorting and assembly machinery component 50, S. cerevisiae, homolog of||612058|R, REc|||| | ||
22.337|7|9|10|22q13.2|TSPO, BZRP, PBR, PBS, BPBS|C|Translocator protein, 18kD|(benzodiazepine receptor, peripheral type)|109610|A|||| | |15(Bzrp)|
22.338|3|30|12|22q13.31|UPK3A, UPK3, UPIII|C|Uroplakin 3A||611559|REc|||Renal adysplasia, 191830 (3); Urogenital adysplasia, 191830 (3)| | ||
22.339|11|22|99|22q13.33|PLXNB2, MM1|P|Plexin B2||604293|REc, R|||| | ||
22.340|9|8|10|22q13.2|XPNPEP3, APP3, NPHPL1|C|X-prolyl aminopeptidase 3||613553|REc|||Nephronophthisis-like nephropathy 1, 613159 (3)| | ||
22.341|2|27|03|22q13.33|ARSA|C|Arylsulfatase A||607574|S, D|||Metachromatic leukodystrophy, 250100 (3)| | |15(As2)|
22.342|2|21|10|22q13.2|CYB5R3, DIA1, B5R|C|Cytochrome b5 reductase 3||613213|S, REa|||Methemoglobinemia, type I, 250800 (3); Methemoglobinemia, type II,|250800 (3) | |15(Dia1)|
22.343|12|21|10|22q13.33|TYMP, ECGF1, MNGIE, PDECGF, MEDPS1, MTDPS1|C|Thymidine phosphorylase||131222|REa, A, Fd|||Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)| | ||
22.344|4|20|11|22q13.33|ACR|C|Acrosin||102480|REa, Ch, REc|||?Male infertility due to acrosin deficiency (2)| | |15(Acr)|
22.345|2|19|07|22q13.33|ALG12, CDG1G|C|Dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-|mannosyltransferase|607144|R, Ch|||Congenital disorder of glycosylation, type Ig, 607143 (3)| | ||
22.346|2|19|07|22q13.33|MLC1, LVM, VL|C|MLC1 gene||605908|Fd, REc, Ch|||Megalencephalic leukoencephalopathy with subcortical cysts, 604004|(3) | ||
22.347|5|24|13|22q13.33|NCAPH2, CAPH2|P|Non-SMC condensin II complex subunit H2||611230|REc, R|||| | |15(Ncaph2)|
22.348|8|25|09|22q13.33|MOV10L1|P|Mov10-like 1||605794|R, REc|||| | ||
22.349|5|26|13|22q13.33|PIM3|P|Oncogene PIM3||610580|REc, R|||| | ||
22.350|3|29|07|22q13.33|SAPS2, PP6R2, KIAA0685|P|SAPS domain family, member 2||610877|R, REc|||| | ||
22.351|7|1|13|22q13.33|SBF1, MTMR5, CMT4B3|P|SET-binding factor 1 (myotubularin-related protein 5)||603560|RE, R, REc|||?Charcot-Marie-Tooth disease, type 4B3, 615284 (3)| | ||
22.352|7|11|11|22q13.33|SELO|P|Selenoprotein O||607917|REc|||| | ||
22.353|12|21|12|22q13.33|TUBGCP6, GCP6, KIAA1669, MCPHCR|P|Tubulin-gamma complex-associated protein 6||610053|REc|||Microcephaly and chorioretinopathy with or without mental|retardation, 251270 (3) | ||
22.354|1|24|09|22q13.33|ZBED4, KIAA0637|P|Zinc finger BED domain-containing protein 4||612552|R, REc|||| | ||
22.355|6|16|89|Chr.22|MSK41|P|Antigen MSK41 identified by monoclonal antibody E3||107260|S|||| | ||
23.1|7|9|90|Xpter-p22.32|ARSC2|L|Arylsulfatase C, f form||301780|D|probably close to STS = ARSC1, or s form||| | ||
23.2|4|25|93|Xp22.33|ASMT, HIOMT|P|Acetylserotonin methyltransferase||300015|REa, Fd|pseudoautosomal||| | ||
23.3|12|3|98|Xp22.33|ASMTLX, ASTML|P|Acetylserotonin methyltransferase-like||300162|REc|||| | ||
23.4|2|14|03|Xp22.33|CD99, MIC2, MIC2X|C|CD99 antigen (MIC2 (monoclonal antibody 12E7))||313470|S, A, D|distal to STS||| | ||
23.5|4|30|98|Xp22.33|SHOX, GCFX, SS, PHOG|C|Short stature homeo box||312865|Fd, D, REc|pseudoautosomal; ?gene causing short stature in Turner syndrome||Short stature, idiopathic familial, 300582 (3); Leri-Weill|dyschondrosteosis, 127300 (3); Langer mesomelic dysplasia, 249700 (3)| ||Henke (1991); Ogata (1992)
23.6|12|31|99|Xpter-p22.32|HDPA|P|Hodgkin disease, susceptibility, pseudoautosomal||300221|Fd|||{Hodgkin disease susceptibility, pseudoautosomal} (2)| | ||
23.7|10|23|87|Xpter-p22.32|XG|C|Xg blood group||314700|F, D|nonlyonizing; spans pseudoautosomal boundary; XGPY on Yq11.21||[Blood group, XG system] (3)| | ||
23.8|8|30|11|Xp22.33|GTPBP6, PGPL|P|GTP-binding protein 6||300124|Psh, A, REc|||| | ||
23.9|1|21|11|Xp22.32-p22.31|NLGN4, KIAA1260, AUTSX2, ASPGX2|P|Neuroligin 4||300427|R|||{Autism susceptibility, X-linked 2}, 300495 (3); {Asperger|syndrome susceptibility, X-linked 2}, 300497 (3); Mental retardation, X-linked, 300495 (3)| ||
23.10|5|28|13|Xp22.33|PPP2R3B, PR48|P|Protein phosphatase 2, regulatory subunit B-double prime, beta||300339|REc|||| | ||
23.11|10|23|00|Xp22.33|VSPA|P|Visuospatial/perceptual abilities||313000|D|||Turner syndrome-associated neurocognitive phenotype (2);|[Visuospatial/perceptual abilities] (2) | ||
23.12|1|6|09|Xp22.33|ZBED1, ALTE, KIAA0785, TRAMP|P|Zinc finger BED domain-containing protein 1||300178|REc|||| | ||
23.13|9|14|12|Xp22.33|XG, PBDX|P|XG glycoprotein||300879|REc|||| | ||
23.14|2|16|04|Xp22.31|FAM9A|P|Family with sequence similarity 9, member A||300477|REc|pseudogene on Xq28, Yp11.31, 1p36.12, 8p11.1||| | ||
23.15|12|19|11|Xp22.33|AKAP17A, SFRS17A, DXYS155E, XE7|P|A kinase (PRKA) anchor protein 17A||312095|REn|nonlyonizing||| | ||
23.16|12|5|11|Xp22.33|CSF2RA, SMDP4|C|Colony-stimulating factor-2 receptor, alpha, low-affinity,|granulocyte-macrophage|306250|A|order in PAR: pter-CSF2RA-IL3RA-ANT3-ASMT-MIC2-cen||Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)| | |19(Csf2ra)|
23.17|2|16|04|Xp22.31|FAM9B|P|Family with sequence similarity 9, member B||300478|REc|||| | ||
23.18|11|7|08|Xp22.31|HDHD1A, DXF68S1E, GS1|P|Haloacid dehalogenase-like hydrolase domain-containing 1A||306480|REn|escapes X-inactivation; 100kb telomeric to STS||| | ||
23.19|3|6|00|Xp22.33|SLC25A6, ANT3|C|Solute carrier family 25 (mitochondrial carrier), member 6|(adenine nucleotide translocator-3, liver)|300151|Pcm, REc, REn|1st intron ~1.3Mb from Xqter; nonlyonized||| | ||
23.20|4|30|09|Xp22.31|STS, ARSC1, ARSC, SSDD, XLI|C|Steroid sulfatase, microsomal (arylsulfatase C, isozyme S)||300747|F, S, D|nonlyonizing||Ichthyosis, X-linked, 308100 (3)| | |X,Y(Sts)|
23.21|10|12|90|Xp22.32|XGR|P|XG/MIC2 regulator||314705|F|?between XG and MIC2||| | ||
23.22|11|30|06|Xp22.2|ASB11|P|Ankyrin repeat- and SOCS box-containing protein 11||300626|REc|||| | ||
23.23|7|9|09|Xp22.2|FAAP95, FAAP90, FLJ34064, FANCB|C|Fanconi anemia-associated polypeptide, 95kD||300515|REn|||Fanconi anemia, complementation group B, 300514 (3)| | ||
23.24|2|16|04|Xp22.2|FAM9C|P|Family with sequence similarity 9, member C||300479|REc|||| | ||
23.25|11|23|98|Xp22.2|FIGF, VEGFD|P|c-fos induced growth factor (vascular endothelial growth factor D)||300091|Psh|||| | ||
23.26|2|18|98|Xp22.2|ARHGAP6|P|Rho GTPase-activating protein-6||300118|REc|||| | ||
23.27|3|28|03|Xp22.33|ARSE, CDPX1, CDPXR|C|Arylsulfatase E||300180|D, Fd|CDPX1 in contiguous gene syndrome with STS||Chondrodysplasia punctata, X-linked recessive, 302950 (3)| | ||Agematsu (1988); Wulfsberg (1992)
23.28|2|14|97|Xp22.33|ARSD|P|Arylsulfatase D||300002|REn|||| | ||
23.29|2|14|97|Xp22.33|ARSF|C|Arylsulfatase F||300003|REn, REc|||| | ||
23.30|5|19|06|Xp22.33|ARSH|P|Arylsulfatase H||300586|REc|||| | ||
23.31|1|12|95|Xp22.2|CLCN4|P|Chloride channel-4||302910|RE|||| | ||
23.32|8|30|01|Xp22.33|CRLF2, CRL2|P|Cytokine receptor-like factor 2||300357|A|pseudoautosomal||| | ||
23.33|10|23|97|Xp22.31|DXS1283E|P|GS2 gene||300102|REn|||| | ||
23.34|10|19|99|Xp22.3|EMWX|P|Episodic muscle weakness, X-linked||300211|Fd|||Episodic muscle weakness, X-linked (2)| | ||
23.35|6|7|10|Xp22.2|GPR143, OA1, NYS6|C|G protein-coupled receptor 143||300808|F, Fd|linked to XG||Ocular albinism, type I, Nettleship-Falls type, 300500 (3);|Nystagmus 6, congenital, X-linked, 300814 (3) | |X(Oa1)|
23.36|2|7|01|Xp22.33|GYG2, GN2|P|Glycogenin 2||300198|A|||| | ||
23.37|10|23|87|Xp22.3|HYR|P|H-Y regulator, or repressor||306970|Ch|structural HY locus on chr.6, 143170||| | ||
23.38|10|4|93|Xp22.33|IL3RA|C|Interleukin-3 receptor, alpha subunit||308385|REa, A, REn|same 190kb segment as CSF2RA||| | |14(Il3ra)|
23.39|9|28|12|Xp22.31|KAL1, KMS, ADMLX, HH1|C|Kallmann syndrome-1 sequence (anosmin-1)||300836|F, Fd, D, REa, REn|with ichthyosis in probable microdeletion syndrome||Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann|syndrome 1), 308700 (3) | ||Legouis (1991); Hardelin (1992)
23.40|9|10|09|Xp22.3|LECD|P|Corneal dystrophy, Lisch epithelial||300778|Fd|max lod between DXYS233 and DXYS228X||Corneal dystrophy, Lisch epithelial (2)| | ||
23.41|7|18|06|Xp22.2|MSL3L1|P|Male-specific lethal 3-like 1||300609|REc|||| | ||
23.42|3|26|03|Xp22.3|MRX2|P|Mental retardation, X-linked, 2||300428|Fd|||Mental retardation, X-linked 2 (2)| | ||
23.43|5|12|99|Xp22.3|MRX49|C|Mental retardation, X-linked-49||300114|Fd, Ch|||Mental retardation, X-linked 49 (2)| | ||
23.44|12|16|93|Xp22.3|OASD|P|Ocular albinism and sensorineural deafness||300650|Fd|?allelic to OA1||Ocular albinism with sensorineural deafness (2)| | ||
23.45|7|28|11|Xp22.33|P2RY8, P2Y8|P|Pyrimidinergic receptor P2Y, G protein-coupled, 8||300525|REc|||| | ||
23.46|8|5|97|Xp22.33|PRKX|P|Protein kinase, X-linked||300083|REc|||| | ||
23.47|4|18|07|Xp22.2|SHROOM2, APXL|P|Shroom family member 2||300103|REn|||| | |X(Apxl)|
23.48|5|24|02|Xp22.3-p22.2|TBL1X, TBL1|P|Transducin-beta-like 1, X-linked||300196|A|||| | |X(Tbl1)|
23.49|4|14|05|Xp22.31|VCX, VCXB1, VCX10R|C|Variably charged, X chromosome||300229|REc|||| | ||
23.50|4|14|05|Xp22.31|VCX2, VCX2R, VCXB|P|Variably charged, X chromosome, 2||300532|R|||| | ||
23.51|4|14|05|Xp22.31|VCX3A, VCX8R, VCXA|P|Variably charged, X chromosome, 3A||300533|R|||| | ||
23.52|11|3|09|Xp22.2|OFD1, CXorf5, SGBS2, JBTS10|C|OFD1 protein||300170|Fd, REc|||Oral-facial-digital syndrome 1, 311200 (3); Simpson-Golabi-Behmel|syndrome, type 2, 300209 (3); Joubert syndrome 10, 300804 (3) | ||
23.53|12|4|90|Xp22.2|PRPS2|C|Phosphoribosyl pyrophosphate synthetase-2||311860|REa, A|between STS and ZFX||| | ||
23.54|6|24|10|Xp22.2|TLR7|P|Toll-like receptor 7||300365|REc|centromeric to TLR8||| | ||
23.55|6|24|10|Xp22.2|TLR8|P|Toll-like receptor 8||300366|REc|16kb telomeric to TLR7||| | ||
23.56|3|23|06|Xp22.2|AMELX, AMG, AIH1, AMGX, AI1E|C|Amelogenin||300391|REa, A, Fd|also Y||Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E, 301200|(3) | |X(Amel)|
23.57|5|19|97|Xp22.3-p21.3|MRX29|P|Mental retardation, X-linked-29||300077|Fd|||Mental retardation, X-linked 29 (2)| | ||
23.58|9|28|93|Xp22.2|GRPR|C|Gastrin-releasing peptide receptor||305670|Psh|||| | ||
23.59|3|30|12|Xp22.1-p21.3|POLA1|C|Polymerase, DNA, alpha-1||312040|S|proximal to ZFX||?N syndrome, 310465 (1)| | |X(Pola)|
23.60|1|31|13|Xp22.2|ASB9|P|Ankyrin repeat- and SOCS box-containing protein 9||300890|REc|||| | ||
23.61|10|23|97|Xp22.2|BMX|P|BMX non-receptor tyrosine kinase||300101|A|||| | ||
23.62|1|10|92|Xp22.2|CMTX2|P|Charcot-Marie-Tooth disease, X-linked recessive, 2||302801|Fd|||Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 (2)| | ||
23.63|3|15|11|Xp22.2|FRMPD4, PRESO, KIAA0316|P|FERM and PDZ domains-containing protein 4||300838|R, REc|previously mapped to chr.13||| | ||
23.64|11|13|07|Xp22.2|HBFQTL3, FCP1, FCPX, FCP|P|Fetal hemoglobin quantitative trait locus 3||305435|F, Fd|||Fetal hemoglobin quantitative trait locus 3 (2)| | ||
23.65|9|28|96|Xp22.2|GPM6B, M6B|P|Glycoprotein M6B||300051|A|||| | ||
23.66|5|26|13|Xp22.2|INE2|P|Inactivation escape 2||300165|A|||| | ||
23.67|12|5|00|Xp22.2|RAB9|P|RAS-associated protein RAB9||300284|R|||| | ||
23.68|1|13|11|Xp22.2|RBBP7|P|Retinoblastoma-binding protein 7||300825|REc|||| | ||
23.69|5|27|93|Xp22.11|ZFX|C|Zinc finger protein, X-linked||314980|Ch, REa, Fd||nonlyonizing|| | |X(Zfx)|
23.70|12|3|98|Xp22.11|EIF2S3, EIF2G|P|Eukaryotic translation initiation factor 2, subunit 3||300161|A, H|||| | ||
23.71|4|17|06|Xp22.12|PDHA1, PHE1A|C|Pyruvate dehydrogenase, E1-alpha polypeptide-1||300502|REa, A, Fd|||Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3); Leigh|syndrome, X-linked, 308930 (3) | |X(Pdha1)|
23.72|2|1|11|Xp22.11|PHEX, HYP, HPDR1, LXHR|C|Phosphate regulating endopeptidase homolog, X-linked||300550|Fd|||Hypophosphatemic rickets, X-linked dominant, 307800 (3)| | |X(Phex, Gy)|
23.73|10|1|09|Xp22.13|PHKA2, PHK, XLG, PHK, PYKL, GSD9A|C|Phosphorylase kinase, liver, alpha-2 subunit||300798|Fd, REa, A|||Glycogen storage disease, type IXa1, 306000 (3); Glycogen storage|disease, type IXa2, 306000 (3) | ||Willems (1991); Hendrickx (1992)
23.74|6|9|98|Xp22.13|PPEF1|P|Protein phosphatase, EF hand calcium-binding domain 1||300109|REc|||| | ||
23.75|7|1|11|Xp22.12|RPS6KA3, RSK2, MRX19|C|Ribosomal protein S6 kinase, 90kD, polypeptide 3||300075|Fd, RE|||Coffin-Lowry syndrome, 303600 (3); Mental retardation, X-linked|19, 300844 (3) | ||
23.76|3|31|11|Xp22.13|RS1, XLRS1|C|Retinoschisin||300839|F, Fd|25cM from XG||Retinoschisis, 312700 (3)| | ||
23.77|2|7|01|Xp22.13|SCML1|P|Sex comb on midleg, Drosophila, homolog-like 1||300227|REn|||| | ||
23.78|3|14|07|Xp22.2|TRAPPC2, SEDL, SEDT|C|Trafficking protein particle complex 2 (sedlin)||300202|Fd|||Spondyloepiphyseal dysplasia tarda, 313400 (3)| | ||
23.79|5|28|13|Xp22.12|YY2, ZNF631|P|Transcription factor YY2||300570|REc|||| | ||
23.80|10|24|11|Xp21.3|ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32|C|Aristaless-related homeobox, X-linked||300382|REc, Fd|||Epileptic encephalopathy, early infantile, 1, 308350 (3);|Lissencephaly, X-linked 2, 300215 (3); Mental retardation, X-linked 29 and others, 300419 (3); Proud syndrome, 300004 (3); Partington syndrome, 309510|(3); Hydranencephaly with abnormal genitalia, 300215 (3) ||
23.81|7|23|13|Xp22.13|NHS, CXN, CTRCT40|C|NHS gene||300457|Fd, REc|||Nance-Horan syndrome, 302350 (3); Cataract 40, X-linked, 302200 (3)| | |?X(Xcat)|
23.82|10|15|98|Xp22.13-p21.1|MEHMO|P|MEHMO syndrome (Mental retardation, epileptic seizures, hypogonadism|and hypogenitalism, microcephaly, and obesity)|300148|Fd|||MEHMO syndrome (2)| | ||
23.83|8|29|08|Xp22.12|CNKSR2, CNK2, KIAA0902|P|connector enhancer of KSR 2||300724|R, REc|conflicting assignment to chr.1||| | ||
23.84|12|15|10|Xp22.12|MAP3K15, ASK3|P|Mitogen-activated protein kinase kinase kinase 15||300820|REc|||| | ||
23.85|2|23|12|Xp22.12-p22.11|MBTPS2, S2P, IFAP, KFSDX|P|Membrane-bound transcription factor protease, site 2||300294|A, REc|||IFAP syndrome with or without BRESHECK syndrome, 308205|(3); Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3) | ||
23.86|10|23|11|Xp22.11|ACOT9, MTACT48|P|Acyl-CoA thiesterase 9||300862|REc|||| | |X(Acot9)|
23.87|1|21|11|Xp22.11|DELXp22.11, CXDELp22.11, AUTSX4|P|Chromosome Xp22.11 deletion syndrome||300830|Fd|associated with deletion involving region near PTCHD1||{Autism susceptibility, X-linked 4} (4)| | ||
23.88|8|19|13|Xp22.11|PDK3, CMTX6|P|Pyruvate dehydrogenase kinase, isoenzyme 3||300906|REc|1 family identified with mutation||?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 (3)| | ||
23.89|1|13|11|Xp22.11|PTCHD1|P|Patched domain-containing protein 1||300828|REc|||| | ||
23.90|10|16|94|Xp22.11-p21.2|GDXY, TDFX, SRVX|P|Gonadal dysgenesis, XY female type||306100|F, Ch|?same as ZFX||Gonadal dysgenesis, XY female type (2)| | ||
23.91|12|17|08|Xp22.11|APOO, MYO25, FAM121B|P|Apolipoprotein O||300753|REc|||| | ||
23.92|5|28|13|Xp22.2|CXorf15, FIAT|P|Chromosome X open reading frame 15||300677|REc|||| | ||
23.93|3|9|00|Xp22.2|CA5B|P|Carbonic anhydrase VB, mitochondrial||300230|A|||| | |X(Car5b)|
23.94|3|29|12|Xp22.2|PIGA, MCAHS2|P|Phosphatidylinositol glycan, class A||311770|A|pseudogene on chr.12||Paroxysmal nocturnal hemoglobinuria, somatic, 300818 (3); Multiple|congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3) | |X(Piga)|
23.95|7|22|09|Xp22.11|SAT1, SSAT, KFSD, KFSDX|C|Spermidine/spermine N1-acetyltransferase 1||313020|Psh, A, D, Fd|||Keratosis follicularis spinulosa decalvans, 308800 (3)| | ||
23.96|7|1|11|Xp22.12|SMPX, DFNX4|C|Small muscle protein, X-linked||300226|A, R, REc, Fd|||Deafness, X-linked 4, 300066 (3)| | ||
23.97|5|6|04|Xp22.11|SMS, SRS, MRSR|C|Spermine synthase||300105|REn, Fd|||Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)| | |X(Sms)|
23.98|4|10|97|Xp22.2|ZRSR2, U2AF1RS2|P|Zinc finger-, CCCH domain-, and RNA-binding motif-containing|serine/arginine-rich protein 2|300028|A|||| | |X(U2af1rs2)|
23.99|3|13|06|Xp21.3-p21.2|IL1RAPL1, IL1R8, MRX21, MRX34|C|Il-1 receptor accessory protein-like 1||300206|F, Fd, D, REc|||Mental retardation, X-linked 21/34, 300143 (3)| | ||
23.100|12|11|02|Xp22.12|SH3KBP1, CIN85|P|SH3-domain kinase-binding protein 1||300374|A|||| | ||
23.101|10|12|90|Xp22.2|GLRA2|P|Glycine receptor, alpha-2 polypeptide||305990|REa, Fd|||| | |X(Glra2)|
23.102|6|17|04|Xp11.23|ZNF81, MRX45|C|Zinc finger protein-81 (HFZ20)||314998|REa|||Mental retardation, X-linked 45, 300498 (3)| | ||
23.103|2|21|06|Xp11.23|ZNF41, MRX89|P|Zinc finger protein-41||314995|REa|||Mental retardation, X-linked 89, 300848 (3)| | ||
23.104|5|16|01|Xp22.2|ACE2, ACEH|P|Angiotensin I converting enzyme 2||300335|REc|||| | ||
23.105|12|18|89|Xp22|AGMX2, XLA2, IMD6|P|Agammaglobulinemia, X-linked 2 (with growth hormone deficiency)||300310|Fd|||Agammaglobulinemia, X-linked 2 (2)| | |X(Xid)|
23.106|10|8|88|Xp22|AIC|C|Aicardi syndrome||304050|X/A, Ch|?in p22.31 with FDH as contiguous gene syndrome||Aicardi syndrome (2)| | ||Donnenfeld (1989); Naritomi (1992)
23.107|5|29|12|Xp22|ANIB5|P|Aneurysm, intracranial berry, 5||300870|Fd|||Aneurysm, intracranial berry, 5 (2)| | ||
23.108|11|9|11|Xp22.2|AP1S2, MRX59, MRXSF, MRXS21|C|Adaptor-related protein complex 1, sigma-2 subunit||300629|REc, Fd|||Mental retardation, X-linked syndromic, Fried type, 300630 (3)| | ||
23.109|12|29|09|Xp22.13|CDKL5, STK9, ISSX, EIEE2|C|Cyclin-dependent kinase-like 5|(serine/threonine protein kinase 9)|300203|Fd, Ch|||Epileptic encephalopathy, early infantile, 2, 300672 (3);|Angelman syndrome-like, 105830 (3) | |X(Stk9)|
23.110|5|7|03|Xp22.2|CTPS2|P|Cytidine 5-prime triphosphate synthetase 2||300380|REc|||| | ||
23.111|2|1|01|Xp22.2|EGFL6|P|Epidermal growth factor-like 6||300239|REa, REc|||| | ||
23.112|10|11|06|Xp22.2|HCCS, MCOPS7|C|Holocytochrome c synthase (cytochrome c heme-lyase)||300056|REc|||Microphthalmia, syndromic 7, 309801 (3)| | ||
23.113|12|30|03|Xp21.3|MAGEB5|P|Melanoma antigen, family B, 5||300466|REc|||| | ||
23.114|12|30|03|Xp21.3|MAGEB6|P|Melanoma antigen, family B, 6||300467|REc|||| | ||
23.115|3|16|12|Xp22.2|MID1, OGS1, BBBG1, FXY, OSX|C|Midline-1||300552|Fd, Ch|type II defect on chr.22||Opitz GBBB syndrome, type I, 300000 (3)| | |X(Mid1)|
23.116|10|18|00|Xp22|MNG2|P|Multinodular goiter-2||300273|Fd|||Goiter, multinodular, 2 (2)| | ||
23.117|11|29|99|Xp22.13|RAI2|P|Retinoic acid-induced 2||300217|REc|||| | ||
23.118|3|3|03|Xp22|RP23|P|Retinitis pigmentosa 23||300424|Fd|||Retinitis pigmentosa 23 (2)| | ||
23.119|2|7|01|Xp22.13|SCML2|P|Sex comb on midleg, Drosophila, homolog-like 2||300208|A|||| | ||
23.120|12|29|06|Xp22.2|TMEM27, NX17|P|Transmembrane protein 27 (collectrin)||300631|REc|||| | ||
23.121|11|13|94|Xp22-p21|PDR|P|Pigment disorder, reticulate||301220|Fd|between DXS1052 and DXS1061||Pigment disorder, reticulate (2)| | ||
23.122|2|7|06|Xp22.13|GPR64, HE6|P|G protein-coupled receptor 64||300572|A, H|||| | |X(Gpr64)|
23.123|3|19|09|Xp21.2|MAGEB1, MAGEL1, DAM10|P|Melanoma antigen, family B, 1||300097|RE|||| | |X(Smage1/2)|
23.124|3|19|09|Xp21.2|MAGEB2, DAM6|P|Melanoma antigen, family B, 2||300098|REc|||| | ||
23.125|10|26|98|Xp21.2|MAGEB3|P|Melanoma antigen, family B, 3||300152|REc|||| | ||
23.126|10|26|98|Xp21.2|MAGEB4|P|Melanoma antigen, family B, 4||300153|REc|||| | ||
23.127|3|19|09|Xp21.3|MAGEB10|P|Melanoma antigen, family B, 10||300761|REc|||| | ||
23.128|3|19|09|Xp21.1|MAGEB16|P|Melanoma antigen, family B, 16||300762|REc|||| | ||
23.129|3|19|09|Xp22.2|MAGEB17|P|Melanoma antigen, family B, 17||300763|REc|||| | ||
23.130|3|26|07|Xp21.3|MENOQ1|P|Menopause, natural, age at, QTL 1||300488|Fd|||{Menopause, natural, age at, QTL1} (2)| | ||
23.131|2|28|03|Xq21.31|TGIF2LX, TGIFLX|P|Transforming growth factor-beta-induced factor 2-like, X-linked||300411|REc|||| | ||
23.132|8|29|11|Xp21.2|DAX1, AHC, AHX, NROB1, SRXY2|C|DSS-AHC critical region on the X chromosome, gene 1||300473|D, Fd|distal to GK||Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism,|300200 (3); 46XY sex reversal 2, dosage-sensitive, 300018 (3) | |X(Ahch)|
23.133|2|24|04|Xp21.2|GK|C|Glycerol kinase||300474|D, Fd|2Mb distal to DMD; pseudogene on 4q32||Glycerol kinase deficiency, 307030 (3)| | |X(Gyk)|
23.134|1|25|93|Xp21.3-p21.2|RP6|L|Retinitis pigmentosa-6, X-linked recessive||312612|Fd|||?Retinitis pigmentosa, X-linked recessive, 6 (2)| | ||
23.135|3|18|08|Xp21.2|DFNX3, DFN4|C|Deafness, X-linked 3||300030|Fd|?same as DMD||Deafness, X-linked 3 (2)| | ||
23.136|3|14|02|Xp21.2-p21.1|DMD, BMD, CMD3B|C|Dystrophin||300377|X/A, Fd, D|dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13||Duchenne muscular dystrophy, 310200 (3); Becker muscular dystrophy,|300376 (3); Cardiomyopathy, dilated, 3B, 302045 (3) | |X(Dmd)|
23.137|5|28|13|Xp21.2|TAB3|P|Tak1-binding protein 3||300480|REc|||| | ||
23.138|5|23|11|Xp21.1|XK, MCLDS|C|Kell blood group precursor||314850|F, D|~500kb distal to CGD||McLeod syndrome with or without chronic granulomatous disease,|300842 (3) | ||
23.139|2|5|99|Xp11.23|USP11, UHX1|C|Ubiquitin-specific protease-11 (ubiquitin carboxyl-terminal hydrolase)||300050|REa, REc|||| | ||
23.140|8|25|98|Xp21.2-q21.1|XS, LUXS|L|Lutheran suppressor, X-linked||309050|Fd|||| | ||
23.141|8|25|11|Xp11.4|CYBB, CGD, AMCBX2|C|Cytochrome b-245, beta polypeptide||300481|F, D|proximal to DMD||Chronic granulomatous disease, X-linked, 306400 (3); Atypical|mycobacteriosis, familial, X-linked 2, 300645 (3) | |X(Cybb)|
23.142|12|4|03|Xp11.4|OTC|C|Ornithine transcarbamylase||300461|L, REa, A, D|proximal to DMD, CGD||Ornithine transcarbamylase deficiency, 311250 (3)| | |X(spf; Otc)|
23.143|12|31|99|Xp11.4|SRPX, ETX1|C|Sushi-repeat-containing protein, X chromosome||300187|Fd, D|probably between OTC and CGD||| | ||
23.144|10|5|11|Xp21.1-p11.23|MRXS17|P|Mental retardation, X-linked, syndromic 17||300858|Fd|between rs2748314 and rs5906782||Mental retardation, X-linked, syndromic 17 (2)| | ||
23.145|9|9|10|Xp21|DELXp21, CXDELp21|P|Chromosome Xp21 deletion syndrome||300679|Ch|contiguous gene deletion syndrome||Chromosome Xp21 deletion syndrome (4)| | ||
23.146|3|6|01|Xp11.4|TCTE1L|P|T complex-associated testis-expressed 1-like||300302|REc|||| | ||
23.147|11|19|13|Xp11.4|ATP6AP2, ATP6M8-9, XMRE, MRXSH, XPDS|C|ATPase, H+ transporting, lysosomal, accessory protein 2||300556|REc, Fd|mutation identified in 1 MRXSH family and 1 XPDS family||?Mental retardation, X-linked, syndromic, Hedera type, 300423 (3);|?Parkinsonism with spasticity, X-linked, 300911 (3) | ||
23.148|3|30|04|Xp11.4|BCOR, KIAA1575, MCOPS2, MAA2, ANOP2|C|BCL6 corepressor||300485|R, REc, Fd|||Microphthalmia, syndromic 2, 300166 (3)| | ||
23.149|3|28|12|Xp11.4|CASK, MICPCH, FGS4, CMG, MRXSNA|C|Calcium/calmodulin-dependent serine protein kinase||300172|R, Fd|||Mental retardation and microcephaly with pontine and cerebellar|hypoplasia, 300749 (3); FG syndrome 4, 300422 (3); Mental retardation, with or without nystagmus, 300422 (3)| ||
23.150|1|31|13|Xp11.4|NYX, CSNB1A, NBM1|C|Nyctalopin||300278|Fd, REc|||Night blindness, congenital stationary (complete), 1A, X-linked,|310500 (3) | ||
23.151|9|18|00|Xp11.4|GPR34|P|G protein-coupled receptor 34||300241|A, REc|||| | ||
23.152|10|29|08|Xp11.4|GPR82|P|G protein-coupled receptor 82||300748|REc|||| | ||
23.153|9|18|08|Xp11.3|NDP, ND|C|Norrin||300658|Fd, D|||Norrie disease, 310600 (3); Exudative vitreoretinopathy, X-linked,|305390 (3) | |X(Ndp)|Berger (1992); Chen (1992)
23.154|6|7|10|Xp11.4|NYS5|P|Nystagmus 5, congenital, X-linked||300589|Fd|max lod at DXS993||Nystagmus 5, congenital, X-linked (2)| | ||
23.155|3|5|13|Xp11.4|RPGR, RP3, CRD, RP15, COD1, CORDX1|C|Retinitis pigmentosa GTPase regulator||312610|D, Fd|||Retinitis pigmentosa 3, 300029 (3);|Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3); Macular degeneration, X-linked atrophic, 300834 (3);|Cone-rod dystrophy, X-linked, 1, 304020 (3) ||
23.156|2|28|08|Xp21.1|TMEM47, BCMP1|P|Transmembrane protein 47||300698|R|||| | ||
23.157|2|5|99|Xp11.4|USP9X, DFFRX|P|Ubiquitin-specific protease-9, X chromosome (Drosophila fat facets|related, X-linked)|300072|REa, REc|||| | ||
23.158|3|25|02|Xp11.23|PFC, PFD|C|Properdin P factor, complement||300383|Fd, REa, A|||Properdin deficiency, X-linked, 312060 (3)| | |X(Pfc)|
23.159|9|9|11|Xp11.4-p11.21|OPA2|P|Optic atrophy, X-linked||311050|Fd|||Optic atrophy 2, X-linked (2)| | ||
23.160|3|21|94|Xp11.23|ARAF1, RAFA1, PKS2|C|Oncogene ARAF1||311010|REa, A, Fd|||| | |X(Araf)|
23.161|8|10|99|Xp11.4|MED14, CRSP2, CXorf4, TRAP170, EXLM1|P|Mediator complex subunit 14||300182|A|||| | ||
23.162|8|24|04|Xp11.23|SYN1|C|Synapsin I||313440|A, Fd, REn|5kb from PFC||Epilepsy, X-linked, with variable learning disabilities and|behavior disorders, 300491 (3) | |X(Syn1)|
23.163|12|7|12|Xp11.4-q21.1|MRX78|P|Mental retardation, X-linked 78||300551|Fd|max lod with DXS8054 and DXS1003||Mental retardation, X-linked 78 (2)| | ||
23.164|2|28|06|Xp11.23|CHST7, C6ST2|C|Carbohydrate sulfotransferase 7||300375|REc|||| | ||
23.165|2|18|09|Xp11.3|DELXp11.3, CXDELp11.3|P|Chromosome Xp11.3 deletion syndrome (X-linked mental retardation with|retinitis pigmentosa)|300578|Ch|||Chromosome Xp11.3 deletion syndrome (4)| | ||
23.166|5|28|13|Xp11.3|DUSP21, LMWDSP21|P|Dual-specificity phosphatase 21||300678|REc|||| | ||
23.167|9|9|10|Xp11.3|EFHC2|P|EF-hand domain (C-terminal)-containing protein 2||300817|REc|||| | ||
23.168|7|20|12|Xp11.3|FUNDC1|P|FUN14 domain-containing protein 1||300871|REc|||| | ||
23.169|3|23|09|Xp11.3|MIR221, MIRN221|P|Micro RNA 221||300568|REc|near MIRN222||| | ||
23.170|3|23|09|Xp11.3|MIR222, MIRN222|P|Micro RNA 222||300569|REc|near MIRN221||| | ||
23.171|3|3|09|Xp11.23|NDUFB11|P|NADH-dehydrogenase 1 beta subcomplex, 11||300403|R, REc|||| | ||
23.172|6|27|02|Xp11.23|PCSK1N, PROSAAS|P|Proprotein convertase, subtilisin/kexin-type, 1, inhibitor of||300399|R|||| | ||
23.173|2|28|06|Xp11.23|SLC9A7, NHE7|C|Solute carrier family 9 (sodium/hydrogen exchanger), member 7||300368|R|||| | ||
23.174|8|16|99|Xp11.23|ZNF21|C|Zinc finger protein-12||314993|REc|||| | ||
23.175|3|23|06|Xp11.3|ZNF673, FLJ20344|C|Zinc finger protein 673||300585|REc|||| | ||
23.176|4|17|13|Xp11.23|CDK16, PCTK1, PCTAIRE1|C|Cyclin-dependent kinase 16||311550|A, REn|||| | ||
23.177|3|16|09|Xp11.4|DDX3X, DDX3, DBX|P|DEAD/H box-3, X-linked||300160|A|||| | ||
23.178|12|18|07|Xp11.23|TBC1D25, OATL1|C|TBC1 domain family, member 25||311240|REa, A, Fd|||| | ||
23.179|8|21|91|Xp11.23|TIMP1, TIMP, EPA|C|Erythroid-potentiating activity (tissue inhibitor of|metalloproteinases)|305370|REa, A|in intron of SYN1||| | |X(Timp)|
23.180|6|29|99|Xp11.3-p11.21|MRX50|P|Mental retardation, X-linked nonspecific, type 50||300115|Fd|||Mental retardation, X-linked 50 (2)| | ||
23.181|2|25|08|Xp11.3-q12|AGSPX|P|Angioma serptiginosum, X-linked||300652|Fd|between DXS8026 and DXS106||Angio serpiginosum (2)| | ||
23.182|9|22|96|Xp11.3-q13.3|MRX14|P|Mental retardation, X-linked-14||300062|Fd|||Mental retardation, X-linked 14 (2)| | ||
23.183|11|9|11|Xp11.3-q22|MRXS7|P|Mental retardation, X-linked, syndromic 7||300218|Fd|||Mental retardation, X-linked syndromic 7 (2)| | ||
23.184|9|30|04|Xp11.3-q22.3|MRX84|P|Mental retardation, X-linked 84||300505|Fd|29 other MRX loci in same region||Mental retardation, X-linked 84 (2)| | ||
23.185|1|31|13|Xp11.23|CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2|C|Calcium channel, voltage-dependent, alpha-1F subunit||300110|REn, Fd|||Night blindness, congenital stationary (incomplete), 2A, X-linked,|300071 (3); Cone-rod dystropy, X-linked, 3, 300476 (3); Aland Island eye disease, 300600 (3)| ||
23.186|10|23|11|Xp11.23|CCDC22|P|Coiled-coil domain-containing protein 22||300859|REc|||| | ||
23.187|2|1|07|Xp11.23|FTSJ1, JM23, SPB1, MRX44, MRX9|C|FTSJ homolog 1||300499|REc|||Mental retardation, X-linked 9, 309549 (3)| | ||
23.188|9|2|08|Xp11.23|GAGE1|C|G antigen 1||300594|Psh, A, REc|||| | ||
23.189|9|2|08|Xp11.23|GAGE2A|P|G antigen 2A||300720|REc|||| | ||
23.190|9|2|08|Xp11.23|GAGE2B|P|G antigen 2B||300726|REc|||| | ||
23.191|9|2|08|Xp11.23|GAGE2C, GAGE2|C|G antigen 2C||300595|Psh, A, REc|||| | ||
23.192|9|2|08|Xp11.23|GAGE2D|P|G antigen 2D||300735|REc|||| | ||
23.193|9|2|08|Xp11.23|GAGE2E|P|G antigen 2E||300736|REc|||| | ||
23.194|5|28|13|Xp11.23|GAGE3|P|G antigen 3||300596|REc|||| | ||
23.195|5|28|13|Xp11.23|GAGE4|P|G antigen 4||300597|REc|||| | ||
23.196|6|1|12|Xp11.23|GAGE5|P|G antigen 5||300598|REc|||| | ||
23.197|6|1|12|Xp11.23|GAGE6|P|G antigen 6||300599|REc|||| | ||
23.198|3|13|08|Xp11.23|GAGE7|P|G antigen 7||300601|REc|||| | ||
23.199|9|2|08|Xp11.23|GAGE7B|C|G antigen 7B||300637|Psh, A, REc|||| | ||
23.200|9|2|08|Xp11.23|GAGE10|P|G antigen 10||300737|REc|||| | ||
23.201|9|2|08|Xp11.23|GAGE12C|P|G antigen 12C||300727|REc|||| | ||
23.202|9|2|08|Xp11.23|GAGE12D|P|G antigen 12D||300728|REc|||| | ||
23.203|9|2|08|Xp11.23|GAGE12E|P|G antigen 12E||300729|REc|||| | ||
23.204|9|2|08|Xp11.23|GAGE12F|P|G antigen 12F||300730|REc|||| | ||
23.205|9|2|08|Xp11.23|GAGE12G|P|G antigen 12G||300731|REc|||| | ||
23.206|9|2|08|Xp11.23|GAGE12H|P|G antigen 12H||300732|REc|||| | ||
23.207|9|2|08|Xp11.23|GAGE12J|P|G antigen 12J||300733|REc|||| | ||
23.208|9|2|08|Xp11.23|GAGE13|P|G antigen 13||300734|REc|||| | ||
23.209|7|20|12|Xp11.23|GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP|C|GATA-binding protein-1 (globin transcription factor-1)||305371|REa, A|||Thrombocytopenia, X-linked, with or without dyserythropoietic anemia,|300367 (3); Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3); Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3);|Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3)|X(Gf1)|
23.210|9|23|13|Xp11.23|HDAC6, CPBHM|C|Histone deacetylase 6||300272|R, A|||Chondrodysplasia with platyspondyly, distinctive brachydactyly,|hydrocephaly, and microphthalmia, 300863 (3) | ||
23.211|5|26|13|Xp11.23|INE1|P|Inactivation escape 1||300164|A|||| | ||
23.212|6|1|12|Xp11.23|KCND1|P|Potassium voltage-gated channel, SHAL-related subfamily, member 1||300281|R, REc|||| | ||
23.213|2|7|01|Xp11.22|MAGED1|P|Melanoma antigen, family D, 1||300224|R|||| | ||
23.214|12|16|93|Xp11.3|MAOA|C|Monoamine oxidase A||309850|Fd, REa, D, A, REn|NDP, MAOA, MAOB closely linked||Brunner syndrome, 300615 (3)| | |X(Maoa)|
23.215|4|10|90|Xp11.3|MAOB|C|Monoamine oxidase B||309860|REa, D, A, REn|||| | |X(Maob)|
23.216|4|17|13|Xp11.23|MIR502|P|Micro RNA 502||300893|REc|||| | ||
23.217|3|13|08|Xp11.22|NUDT10, DIPP3A, APS2|P|Nucleoside diphosphate-linked moiety X motif 10||300527|REc|||| | ||
23.218|3|13|08|Xp11.22|NUDT11, DIPP3B, APS1|P|Nucleoside diphosphate-linked moiety X motif 11||300528|REc|||| | ||
23.219|6|5|08|Xp11.23|OTUD5, DUBA|P|OTU domain-containing protein 5||300713|REc|||| | ||
23.220|9|4|08|Xp11.23|GAGEB1, PAGE1|C|P antigen family, member 1||300288|REc, Psh|||| | ||
23.221|9|4|08|Xp11.23|PAGE4, GAGEC1|P|P antigen family, member 4||300287|REa, R|||| | ||
23.222|5|26|13|Xp11.23|PHF16, JADE3, KIAA0215|P|PHD finger protein 16||300618|REc|||| | |X(Phf16)|
23.223|8|31|07|Xp11.23|PORCN, PORC, DHOF, FODH|C|Porcupine, Drosophila, homolog of||300651|REc|||Focal dermal hypoplasia, 305600 (3)| | ||
23.224|4|6|11|Xp11.23|PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8|C|Polyglutamine-binding protein 1||300463|REc, R, Fd|||Renpenning syndrome, 309500 (3)| | ||
23.225|3|31|11|Xp11.23|PRAF2, JM4|P|PRA1 domain family, member 2||300840|REc|||| | ||
23.226|11|1|13|Xp11.23|PRICKLE3, LMO6|P|Prickle, Drosophila, homolog of, 3||300111|REc|||| | ||
23.227|2|19|96|Xp11.23|RBM3|P|RNA binding motif protein 3||300027|REc, REn|||| | ||
23.228|7|8|10|Xp11.23|RBM10, DXS8237E, KIAA0122, TARPS|P|RNA-binding motif protein 10||300080|REc|||TARP syndrome, 311900 (3)| | ||
23.229|6|18|10|Xp11.23|RP2|C|Retinitis pigmentosa-2, X-linked recessive||300757|Fd|||Retinitis pigmentosa 2, 312600 (3)| | ||
23.230|8|22|07|Xp11.23|SLC38A5, SN2|P|Solute carrier family 38 (amino acid transporter), member 5||300649|REc|||| | ||
23.231|3|13|08|Xp11.23|SPACA5, LOC389852|P|Sperm acrosome associated 5||300593|REc|||| | ||
23.232|5|28|13|Xp11.23|SSX1, SSRC|C|Synovial sarcoma, X breakpoint 1||312820|Ch, RE, A, REc|fused with SYT in synovial sarcoma||?Sarcoma, synovial, 300813 (3)| | ||
23.233|5|28|13|Xp11.23|SSX3|P|Synovial sarcoma, X breakpoint 3||300325|Psh, REc|||| | ||
23.234|5|28|13|Xp11.23|SSX4|P|Synovial sarcoma, X breakpoint 4||300326|Ch, RE, REc|||| | ||
23.235|5|28|13|Xp11.23|SSX6|P|Synovial sarcoma, X breakpoint 6||300541|REc|||| | ||
23.236|5|26|13|Xp11.23|SSX9|P|Sarcoma, synovial, X breakpoint 9||300544|REc|||| | ||
23.237|5|28|13|Xp11.23|SSX5|P|Synovial sarcoma, X breakpoint 5||300327|REc|||| | ||
23.238|2|1|01|Xp11.23|SUV39H1|P|Suppressor of variegation 3-9, Drosophila, homolog of, 1||300254|REc|||| | ||
23.239|2|24|12|Xp11.23|UBA1, UBE1, GXP1, A1ST, SMAX2, AMCX1|C|Ubiquitin-like modifier-activating enzyme 1||314370|A, S, Ch, REa, Fd|escapes inactivation||Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)| | ||
23.240|6|1|12|Xp11.23|UXT|P|Ubiquitously expressed transcript||300234|REc|||| | ||
23.241|11|2|04|Xp11.23|WDR13|P|WD repeat-containing protein 13||300512|A, REc|||| | ||
23.242|4|17|13|Xp11.23|WDR45, WIPI4, NBIA5|P|WD repeat-containing protein 45||300526|REc|?pseudogene on 4q31.3||Neurodegeneration with brain iron accululation 5, 300894 (3)| | ||
23.243|10|12|10|Xp11.23|ZNF630|P|Zinc finger protein 630||300819|REc|||| | ||
23.244|10|12|09|Xp11.23-p11.22|DUPXp11.23p11.22, CXDUPp11.23p11.22|P|Chromosome Xp11.23-p11.22 duplication syndrome||300801|Ch|||Chromosome Xp11.23-p11.22 duplication syndrome (4)| | ||
23.245|4|8|02|Xp11.23|EBP, CDPX2, CPXD, CPX|P|Emopamil-binding protein||300205|Fd, R, H|||Chondrodysplasia punctata, X-linked dominant, 302960 (3)| | |X(Bpa)|
23.246|9|30|99|Xp11.23|PLP2|P|Proteolipid protein 2||300112|REc|||| | ||
23.247|8|6|13|Xp11.23|SLC35A2, UGALT, UGTL, UGT2, CDGX, CDG2M|P|Solute carrier family 35 (UDP-galactose transporter), member 2||314375|A|||Congenital disorder of glycosylation, type IIm, 300896 (3)| | ||
23.248|10|8|09|Xp11.23|SYP, MRXSYP|P|Synaptophysin||313475|RE, REa, F, Fd|||Mental retardation, X-linked 96, 300802 (3)| | |X(Syp)|
23.249|6|13|02|Xp11.23|WAS, IMD2, THC1, SCNX|C|Wiskott-Aldrich syndrome||300392|Fd, X/A|t(18;X)(q11.2;p11.2); distal to TIMP||Wiskott-Aldrich syndrome, 301000 (3);|Thrombocytopenia, X-linked, 313900 (3); Neutropenia, severe congenital, X-linked, 300299 (3); Thrombocytopenia,|X-linked, intermittent, 313900 (3) |X(Wasp, ?sf)|
23.250|2|28|03|Xp11.22|GSPT2, GST2, ERF3B|P|G1- to S-phase transition 2||300418|R|||| | ||
23.251|9|26|11|Xp11.21|UBQLN2, PLIC2, CHAP1, ALS15|C|Ubiquilin 2||300264|R|||Amyotrophic lateral sclerosis 15, with or without frontotemporal|dementia, 300857 (3) | ||
23.252|1|27|04|Xp11.23|FOXP3, IPEX, AIID, XPID, PIDX|C|Forkhead box P3 (scurfin)||300292|Fd, REc|||Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked,|304790 (3); {Diabetes mellitus, type I, susceptibility to}, 222100 (3) | |X(sf, Foxp3)|
23.253|3|22|07|Xp11.22|CCNB3|P|Cyclin B3||300456|A, REc|||| | ||
23.254|8|31|07|Xp11.23-p11.22|CLCN5, CLCK2, NPHL2, DENTS, NPHL1|C|Chloride channel-5||300008|RE|||Dent disease, 300009 (3); Nephrolithiasis, type I, 310468 (3);|Hypophosphatemic rickets, 300554 (3); Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)| |X(Clcn5)|
23.255|3|9|11|Xp11.22|DGKK|P|Diacylglycerol kinase, kappa, 142kD||300837|REc|||| | ||
23.256|7|18|12|Xp11.22|GNL3L|P|Guanine nucleotide binding protein-like 3-like protein||300873|REc|||| | ||
23.257|4|23|08|Xp11.22|HPCX2|P|Prostate cancer, hereditary, X-linked 2||300704|Fd|associated with rs5945572||{Prostate cancer, hereditary, X-linked 2} (2)| | ||
23.258|9|12|11|Xp11.22|HYSP4|P|Hypospadias 4, X-linked, susceptibility to||300856|Fd|associated with rs1934179 and rs7063116||{Hypospadias 4, X-linked, susceptibilty to} (2)| | ||
23.259|9|7|10|Xp11.22|IQSEC2, KIAA0522, MRX1|P|IQ motif- and Sec7 domain-containing protein 2||300522|R, REc, H|||Mental retardation, X-linked 1, 309530 (3)| | |X(Iqsec2)|
23.260|12|21|09|Xp11.22|MIR98, MIRN98|P|Micro RNA 98||300810|REc|||| | ||
23.261|3|23|09|Xp11.22|MIRLET7F2, LET7F2, MIRNLET7F2|P|Micro RNA Let7f2||300721|REc|||| | ||
23.262|5|28|13|Xp11.22|SSX2|P|Sarcoma, synovial, X breakpoint 2||300192|Ch, RE|||?Sarcoma, synovial, 300813 (3)| | ||
23.263|5|29|13|Xp11.22|SSX7|P|Sarcoma, synovial, X breakpoint 7||300542|REc|||| | ||
23.264|5|28|13|Xp11.22|SSX8|P|Sarcoma, synovial, X breakpoint 8||300543|REc|||| | ||
23.265|9|20|11|Xp11.23|TFE3, RCCX1|P|Transcription factor for IgH enhancer||314310|REa, Fd|fuses with PRCC in RCCP||Renal cell carcinoma, papillary, 1, 300854 (3)| | |X(Tfe3)|
23.266|9|22|08|Xp11.22|XAGE1A|P|X antigen family, member 1A||300742|REc|||| | ||
23.267|9|22|08|Xp11.22|XAGE1B|P|X antigen family, member 1B||300743|REc|||| | ||
23.268|9|22|08|Xp11.22|XAGE1C|P|X antigen family, member 1C||300744|REc|||| | ||
23.269|9|22|08|Xp11.22|XAGE1E|P|X antigen family, member 1E||300745|REc|||| | ||
23.270|5|26|13|Xp11.22|XAGE2, GAGED3|P|X antigen family, member 2||300416|REc|||| | ||
23.271|9|8|08|Xp11.22|XAGE3, PLAC6|P|X antigen family, member 3||300740|REc|||| | ||
23.272|2|20|07|Xp11.22|DXS423E, SMC1, CDLS2|P|Segregation of mitotic chromosomes 1 (SMC1, yeast, homolog of;|DXS423E; SB1.8)|300040|REn|escapes lyonization||Cornelia de Lange syndrome 2, 300590 (3)| | |X(Sb1.8)|
23.273|10|24|11|Xp11.22|KDM5C, JARID1C, SMCX, DXS1272E, XE169, MRXSCJ|C|Lysine-specific demethylase 5C|(Jumonji, AT-rich interactive domain 1C)|314690|REa, REn, A|escapes inactivation||Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534|(3) | |X(Smcx)|
23.274|6|10|98|Xp11.21|TRO|P|Trophinin||300132|A|||| | ||
23.275|6|4|10|Xp11.21|ALAS2, ANH1, ASB, XLEPP, XLSA, ANH1|C|Aminolevulinate, delta-, synthase-2||301300|Ch, REa, A, Fd|||Anemia, sideroblastic, X-linked, 300751 (3); Protoporphyria,|erythropoietic, X-linked, 300752 (3) | |X(Alas)|
23.276|5|12|09|Xp11.21|APEX2, APE2, XTH2, APEXL2|P|APEX nuclease (apurinic/apyrimidinic endonuclease) 2||300773|REc|||| | ||
23.277|5|26|13|Xp11.21|DSF34|P|DXF34 gene||300621|REc|||| | |X(Dxf34)|
23.278|10|27|11|Xp11.22|FGD1, FGDY, AAS, MRXS16|C|FYVE, RhoGEF, and PH domain-containing protein 1||300546|X/A, Fd|||Aarskog-Scott syndrome, 305400 (3); Mental retardation, X-linked|syndromic 16, 305400 (3) | |X(Fgdy)|
23.279|5|28|13|Xp11.21|MAGEH1, MAGEH|P|Melanoma antigen, family H, 1||300548|REc|||| | ||
23.280|9|4|08|Xp11.21|PAGE2, GAGEC2|P|P antigen family, member 2||300738|REc|||| | ||
23.281|9|4|08|Xp11.21|PAGE3, GAGEC1|P|P antigen family, member 3||300739|REc|||| | ||
23.282|4|27|00|Xp11.21|PFKFB1, PFRX|P|Fructose-2,6-bisphosphatase||311790|REa, A, REc|?Xq27-q25; ?Xcen-q13||| | ||
23.283|8|29|08|Xp11.21|RRAGB, RAGB|P|Ras-related GTP-binding protein B||300725|R, REc|||| | ||
23.284|5|26|13|Xp11.21|SNORA11|P|Small nucleolar RNA, H/ACA box, 11||300662|REc|in intron 1 of MAGED2||| | ||
23.285|5|26|13|Xp11.21|SPIN2|P|Spindlin family, member 2||300517|REc|||| | ||
23.286|1|8|01|Xp11.21|ZXDA|P|Zinc finger-encoding gene, X-linked, duplicated, A||300235|REa, REc|||| | ||
23.287|1|8|01|Xp11.21|ZXDB|P|Zinc finger-encoding gene, X-linked, duplicated, B||300236|REa, REc|||| | ||
23.288|4|16|08|Xp11.21-q21.3|SCAX1, CLA2, OPCA|C|Spinocerebellar ataxia, X-linked 1||302500|Fd|Xq23-q24 possible||Spinocerebellar ataxia, X-linked 1 (2)| | ||
23.289|8|25|04|Xp11.21-q22.3|MRX52|P|Mental retardation, X-linked 52||300504|Fd|max lod at DXS559||Mental retardation, X-linked 52 (2)| | ||
23.290|10|1|99|Xp11.22|AKAP4, AKAP82, HI, FSC1|P|A-kinase anchor protein 4, 82kD||300185|A|||| | ||
23.291|8|31|06|Xp11.22|BMP15, GDF9B, ODG2, POF4|P|Bone morphogenetic protein 15||300247|A|||Ovarian dysgenesis 2, 300510 (3); Premature ovarian failure 4,|300510 (3) | |X(Bmp15)|
23.292|9|22|08|Xp11.22|FAM120C, CXorf17|P|Family with sequence similarity 120, member C||300741|REc|||| | ||
23.293|10|12|09|Xp11.22|HSD17B10, HADH2, ERAB, MRXS10, MRX17, MRX31, DUPXp11.22|C|17-beta-hydroxysteroid dehydrogenase X||300256|REc, Fd|MRX17/31 due to microduplication that includes HDS17B10 and HUWE1||17-beta-hydroxysteroid dehydrogenase X deficiency, 300438 (3);|Mental retardation, X-linked syndromic 10, 300220 (3); Mental retardation, X-linked 17/31, microduplication, 300705 (3)| ||
23.294|9|12|92|Xp11.23|ELK1|C|ELK1, member of ETS oncogene family||311040|REa, A|distal to OATL1||| | |X(Elk1)|
23.295|7|2|03|Xp11.23|HRAS2, HRASP|P|v-Ha-ras harvey rat sarcoma viral oncogene homolog 2||300437|REc|||| | ||
23.296|6|5|08|Xp11.22|HUWE1, UREB1, KIAA0312, LASU1|P|HECT, UBA, and WWE domains-containing protein 1||300697|REc, R|||Mental retardation, X-linked syndromic, Turner type, 300706 (3)| | |X(Huwe1)|
23.297|1|26|12|Xp11.3|KDM6A, UTX, KABUK2|P|Lysine (K)-specific demethylase 6A||300128|REa, A|UTY also in mouse and man; escapes inactivation||Kabuki syndrome 2, 300867 (3)| | |X(Utx)|
23.298|12|30|03|Xp11.21|MAGED2, MAGED|C|Melanoma antigen, family D, 2||300470|REc, A|||| | ||
23.299|4|17|06|Xp11.22|PHF8, ZNF422, KIAA1111, MRXSSD|C|PHD finger protein 8||300560|Fd, REc|||Mental retardation syndrome, X-linked, Siderius type, 300263 (3)| | ||
23.300|3|14|06|Xp11.22|SHROOM4, KIAA1202, SDSX|C|Shroom family member 4||300579|Fd, Ch, REc|||Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)| | ||
23.301|7|6|00|Xp11.23|TIMM17B, TIM17B|P|Translocase of inner mitochondrial membrane 17, yeast, homolog of, B||300249|A|||| | ||
23.302|9|2|08|Xp11.22|TSPYL2, CDA1, DENTT, CINAP|P|TSPY-like 2||300564|R, REc|||| | ||
23.303|5|26|05|Xp11.22|WNK3, PRKWNK3, KIAA1566|C|WNK lysine deficient protein kinase 3||300358|R, REc|||| | ||
23.304|2|15|96|Xp11.23|ZNF157|C|Zinc finger protein-157 (HZF22)||300024|REc|||| | ||
23.305|10|22|99|Xp11.23|RGN, SMP30|P|Regucalcin||300212|Psh|||| | ||
23.306|5|12|03|Xp11.2-q12|MRX81|P|Mental retardation, X-linked 81||300433|Fd|between DXS1039 and DXS1216||Mental retardation, X-linked 81 (2)| | ||
23.307|3|13|08|Xp11.21|FAAH2|P|Fatty acid amide hydrolase 2||300654|REc|||| | ||
23.308|10|14|09|Xp11|GRDX, GD3|P|Graves disease, susceptibility to, X-linked||300351|Fd|||{Graves disease, susceptibility to, X-linked} (2)| | ||
23.309|6|29|98|Xp11|IDDMX|P|Diabetes mellitus, insulin-dependent, X-linked, susceptibility to||300136|Fd|only with DR3||{Diabetes mellitus, insulin-dependent, X-linked} (2)| | ||
23.310|12|28|05|Xp11|LOAS|P|Leber optic atrophy, susceptibility to||308905|Fd|||{Leber optic atrophy, susceptibility to} (2)| | ||
23.311|3|11|08|Xp11.22|MAGED4, MAGEE1, KIAA1859|P|Melanoma antigen, family D, 4||300702|R|||| | ||
23.312|3|19|09|Xp11.22|MAGED4B|P|Melanoma antigen, family D, 4B||300765|REc|||| | ||
23.313|2|17|06|Xp11|MRXS12|L|Mental retardation, X-linked, syndromic 12||309545|Fd|||?Mental retardation, X-linked, syndromic 12 (2)| | ||Wilson (1992)
23.314|5|26|13|Xp11.22|SPANXN5|P|SPANX family, member N5||300668|REc|||| | ||
23.315|2|1|01|Xp11.22|SREB3|P|Superconserved receptor expressed in brain 3||300253|R|||| | ||
23.316|8|8|11|Xp11.3-p11.2|ZNF674, MRX92|P|Zinc finger protein 674||300573|REc|||Mental retardation, X-linked 92, 300851 (3)| | ||
23.317|4|16|96|Xp11-q21|MRX20|P|Mental retardation, X-linked-20||300047|Fd|||Mental retardation, X-linked 20 (2)| | ||
23.318|1|10|93|Xp11-q21|PRS, MRXS2|P|Prieto syndrome (mental retardation, X-linked, syndromic 2, with|dysmorphism and cerebral atrophy)|309610|Fd|||Prieto syndrome (2)| | ||
23.319|12|1|94|Xp22.2|CALB3, CABP9K|P|Calbindin 3 (vitamin D-dependent calcium-binding protein)||302020|REa|||| | ||
23.320|6|22|94|Xq13.1|ARR3|P|Arrestin 3, retinal||301770|REa|||| | ||
23.321|8|5|97|Xq|CGF1|P|Cognitive function-1, social||300082|Ch|imprinted locus||[Social cognition] (2)| | ||
23.322|3|28|90|Xq|DXS435E, A11|P|A-11 gene||300010|REc|||| | ||
23.323|11|29|11|Xq|MGR2|P|Migraine, familial typical, susceptibility to, 2||300125|Fd|||{Migraine, familial typical, susceptibility to, 2} (2)| | ||
23.324|8|15|13|Xq|MTBSX|P|Mycobacterium tuberculosis, susceptibility to, X-linked||300259|Fd|||{Mycobacerium tuberculosis, susceptibility, X-linked} (2)| | ||
23.325|11|8|03|Xp11.4|TSPAN7, TM4SF2, MXS1, A15, MRX58|C|Tetraspanin 7||300096|REa, Ch, A|||Mental retardation, X-linked 58, 300210 (3)| | ||
23.326|5|15|08|Xq11-q12|AGA2|P|Alopecia, androgenetic, 2||300710|Fd|associated with rs6152||Alopecia, androgenetic, 2 (2)| | ||
23.327|2|23|09|Xq12|AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1|C|Androgen receptor (dihydrotestosterone receptor)||313700|S, Fd, REa, A|||Androgen insensitivity, 300068 (3); Spinal and bulbar muscular|atrophy of Kennedy, 313200 (3); Androgen insensitivity, partial, with or without breast cancer, 312300 (3); {Prostate cancer, susceptibility to},|176807 (3); Hypospadias 1, X-linked, 300633 (3) |X(Tfm)|La Spada (1991); Biancalana (1992)
23.328|8|9|99|Xq12|HEPH|P|Hephaestin||300167|R, H, Psh, REc|||| | |X(Heph)|
23.329|9|23|13|Xq11.2|AMER1, FAM123B, WTX, OSCS|C|APC membrane recruitment protein 1||300647|REc|||Osteopathia striata with cranial sclerosis, 300373 (3)| | ||
23.330|1|31|13|Xq11.2|ASB12|P|Ankyrin repeat- and SOCS box-containing protein 12||300891|REc|||| | ||
23.331|12|22|00|Xq11.2|SPG16|P|Spastic paraplegia 16, X-linked, complicated||300266|Fd|||Spastic paraplegia 16, X-linked, complicated (2)| | ||
23.332|7|1|13|Xq11.2|ZC4H2, KIAA1166, WRWF|C|Zinc finger C4H2 domain-containing protein||300897|REc, R|||Wieacker-Wolf syndrome, 314580 (3)| | ||
23.333|3|20|94|Xq12|MSN|P|Moesin||309845|REa, A|||| | |X(Msn)|
23.334|2|28|08|Xq12|EDAR2, XEDAR, EDAA2R|C|Ectodysplasin A2 receptor||300276|REc|||| | ||
23.335|6|23|04|Xq13.1|EFNB1, EPLG2, CFNS, CFND|C|eph-related receptor tyrosine kinase ligand 2 (ephrin B1)||300035|REa, A, REc, H, Ch, Fd|?CFNS also on Xp22||Craniofrontonasal dysplasia, 304110 (3)| | |X(Eplg2)|
23.336|3|2|06|Xq13.1|INGX, ING2|P|Inhibitor of growth, X-linked||300452|REc|||| | ||
23.337|3|23|09|Xq12|MIR223, MIRN223|P|Micro RNA 223||300694|REc|||| | ||
23.338|3|24|06|Xq12|OPHN1, MRX60|P|Oligophrenin-1||300127|Ch, A|||Mental retardation, X-linked, with cerebellar hypoplasia and|distinctive facial appearance, 300486 (3) | ||
23.339|8|30|01|Xq12|Z39IG|P|Immunoglobulin superfamily protein Z39IG||300353|REc|||| | ||
23.340|1|9|13|Xq12|ZC3H12B, MCPIP2|P|Zinc finger CCCH domain-containing protein 12B||300889|REc|||| | ||
23.341|6|7|10|Xq21.1|ATP7A, MNK, MK, OHS, SMAX3|C|ATPase, Cu++ transporting, alpha polypeptide||300011|Fc, X/A, H|probably Xq13.2-q13.3, ~150kb prox. to PGK1||Menkes disease, 309400 (3); Occipital horn syndrome, 304150 (3);|Spinal muscular atrophy, distal, X-linked 3, 300489 (3) | |X(Mnk)|
23.342|5|16|01|Xq13.1|ITGB1BP2|P|Integrin, beta-1, binding protein of, 2||300332|A|||| | |X(Itgb1bp2)|
23.343|2|6|07|Xp11.4-p11.2|GAGE8|P|G antigen 8||300638|Psh, A|||| | ||
23.344|12|17|12|Xq13.1|ED1, EDA, ECTD1, EDA, HED1, STHAGX1|C|Ectodysplasin A||300451|X/A, H, Fd|||Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3); Tooth|agenesis, selective, X-linked 1, 313500 (3) | |X(Ta)|
23.345|5|13|13|Xq21.1|TBX22, CPX, ABERS|C|T-box 22||300307|REc, Fd|1 ABERS family identified with mutation||Cleft palate with ankyloglossia, 303400 (3); ?Abruzzo-Erickson|syndrome, 302905 (3) | ||
23.346|10|10|02|Xp22.3|FGS3|P|FG syndrome 3||300406|Fd|||FG syndrome 3 (2)| | ||
23.347|12|11|03|Xq12-q21.3|MRX77|P|Mental retardation, X-linked 77||300454|Fd|||Mental retardation, X-linked 77 (2)| | ||
23.348|6|9|08|Xq12-q21.31|MRXS9|P|Mental retardation, X-linked, syndromic 9||300709|Fd|between DXS1111 and DXS1197||Mental retardation, X-linked, syndromic 9 (2)| | ||
23.349|12|7|07|Xq21.1|ATRX, XH2, XNP, SHS, SFM1, MRXHF1|C|ATR-X gene (helicase 2; X-linked nuclear protein)||300032|RE, Fd|||Alpha-thalassemia/mental retardation syndrome, 301040 (3);|Alpha-thalassemia myelodysplasia syndrome, somatic, 300448 (3); Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)| |X(Xh2)|
23.350|2|26|10|Xq21.1|BRWD3, MRX93|P|Bromodomain-and WD repeat-containing protein 3||300553|REc|||Mental retardation, X-linked 93, 300659 (3)| | ||
23.351|3|1|06|Xq13.1|CXCR3, GPR9, CD182|C|Chemokine, C-X-C motif, receptor 3|(G protein-coupled receptor-9)|300574|A, REc, R|previously assigned to chr.8||| | ||
23.352|9|10|12|Xq13.2|DMRTC1|P|Doublesex- and MAB3-related transcrption factor C1||300878|REc|||| | ||
23.353|10|24|12|Xq13.1|HDAC8, WTS, MRXS6, CDLS5|C|Histone deacetylase 8||300269|A, R, Fd|||Wilson-Turner syndrome, 309585 (3); Cornelia de Lange syndrome 5,|300882 (3) | ||
23.354|5|18|95|Xq13.1|IL2RG, SCIDX1, SCIDX, IMD4|C|Interleukin-2 receptor, gamma||308380|Fd|linked to DXS159||Severe combined immunodeficiency, X-linked, 300400 (3); Combined|immunodeficiency, X-linked, moderate, 312863 (3) | |X(Il2rg)|
23.355|5|13|13|Xq13.1|MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX|C|Mediator of RNA polymerase II transcription, subunit 12, S.|cerevisiae, homolog of|300188|REc, Fd|||Opitz-Kaveggia syndrome, 305450 (3); Lujan-Fryns syndrome, 309520|(3); Ohdo syndrome, X-linked, 300895 (3) | |X(Opa1)|
23.356|12|16|05|Xq13.1|NLGN3, ASPGX1, AUTSX1|P|Neuroligin 3||300336|REc|||{Autism susceptibility, X-linked 1}, 300425 (3);|{Asperger syndrome susceptibility, X-linked 1}, 300494 (3) | ||
23.357|12|11|02|Xq21.1|NSBP1|P|Nucleosomal binding protein 1||300385|R|||| | |X(Nsbp1)|
23.358|8|14|00|Xq13.1|OGT|P|O-linked N-acetylglucosamine transferase||300255|A, R|||| | |X(Ogt)|
23.359|10|15|97|Xq13.1|P2RY4, NRU, P2Y4|P|Pyrimidinergic receptor P2Y, G-protein coupled, 4||300038|A|||| | ||
23.360|7|2|07|Xq21.1|PGK1, PGKA|C|Phosphoglycerate kinase-1||311800|S, R, REb, Fd|?Xq13.3; pseudogenes PGK1P1 on Xq, PGK1P2 on chr. 6||Phosphoglycerate kinase 1 deficiency, 300653 (3)| | |X(Pgk1)|
23.361|5|15|07|Xq13.1-q13.2|PHKA1|C|Phosphorylase kinase, muscle, alpha polypeptide||311870|REa, A, REn|?proximal and close to PGKA;||Muscle glycogenosis, 300559 (3)| | |X(Phka)|
23.362|2|1|01|Xq13.1|PIN4, PAR14, EPVH|P|Peptidyl-prolyl cis/trans isomerase, nima-interacting, 4||300252|REc|||| | ||
23.363|2|23|07|Xq13.1|TAF1, TAF2A, CCG1, BA2R, DYT3|C|TAF1 RNA polymerase II, TATA box-binding protein-associated factor,|250kD|313650|S, H||SVA retrotransposon insertion|Dystonia-Parkinsonism, X-linked, 314250 (3)| | |X(Ccg1)|
23.364|8|29|02|Xq21.1|CYSLTR1, CYSLT1|P|Cysteinyl leukotriene receptor 1||300201|REa, R|||| | ||
23.365|2|26|02|Xq13.2|RNF12, RLIM|P|Putative RING zinc finger protein NY-REN-43 antigen||300379|A|||| | |X(Rnf12)|
23.366|4|24|08|Xq21.1|LPAR4, LPA4, P2RY9, P2Y9, GPR23|P|Lysophosphatidic acid receptor 4||300086|A|||| | ||
23.367|10|25|11|Xq13-q22|MCS, MRXS4|P|Miles-Carpenter syndrome (mental retardation, X-linked, syndromic 4,|with congenital contractures and low fingertip arches)|309605|Fd|linked to DXYS1||Miles-Carpenter syndrome (2)| | ||
23.368|12|27|01|Xq13.1|ACRC|P|Acidic repeat-containing gene||300369|REc|||| | ||
23.369|8|10|11|Xq13.1|DLG3, NEDLG, SAP102, MRX90|P|Discs large, Drosophila, homolog of, 3||300189|A, R|||Mental retardation, X-linked 90, 300850 (3)| | ||
23.370|1|17|08|Xq13.1|ERCC6L, PICH|P|ERCC6-like||300687|REc|||| | ||
23.371|4|17|13|Xq13.1|FOXO4, MLLT7, AFX1|C|Forkhead box O4||300033|Ch|||| | ||
23.372|10|27|93|Xq13.1|GJB1, CX32, CMTX1|C|Gap junction protein, beta-1, 32kD (connexin 32)||304040|REa, Fd|||Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3)| | |X(Gjb1)|
23.373|2|3|05|Xq13.1|KIF4A, KIF4|P|Kinesin family member 4A||300521|A|||| | ||
23.374|3|19|09|Xq13.3|MAGEE1, DAMAGE, KIAA1587|P|Melanoma antigen, family E, 1||300759|REc|||| | ||
23.375|3|19|09|Xq13.3|MAGEE2|P|Melanoma antigen, family E, 2||300760|REc|||| | ||
23.376|1|13|99|Xq13.1|MSG1|P|Melanocyte-specific gene 1||300149|Psh|||| | |X(msg1)|
23.377|3|6|00|Xq13.1|NONO, NRB54|C|Non-Pou domain-containing octamer (ATGCAAAT) binding protein|(nuclear RNA-binding protein, 54-kD)|300084|A|2Mb proximal to PHKA1||| | ||
23.378|6|5|08|Xq13.1|OTUD6A, DUBA2|P|OTU domain-containing protein 6A||300714|REc|||| | ||
23.379|1|5|07|Xq13.1|PDZD11, AIPP1, PISP|P|PDZ domain-containing 11||300632|REc|||| | ||
23.380|6|19|12|Xq13.1|PJA1|P|Praja 1||300420|REc|||| | ||
23.381|4|4|00|Xq13.1|RPS4X, CCG2, SCAR|C|Ribosomal protein S4, X-linked||312760|A, REa, REn|cen-RPS4X-PHKA1-XIST-qter in 2.6Mb||| | |X(Rps4x)|
23.382|5|28|13|Xq13.1|SLC7A3, CAT3|P|Solute carrier family 7 (cationic amino acid transporter, y+ system),|member 3|300443|REc, R|||| | ||
23.383|12|10|12|Xq13.1|SNX12|P|Sorting nexin 12||300883|REc|||| | ||
23.384|1|28|08|Xq13.1|STARD8, DLC3, STARTGAP3, KIAA0189|C|START domain-containing protein 8||300689|R, REc|||| | ||
23.385|10|12|99|Xq13.1|ZMYM3, ZNF261, DXS6673E|P|Zinc finger, MYM-type 3||300061|REc|||| | ||
23.386|8|9|11|Xq21.1|MAGT1, IAP, XMEN|P|Magnesium transporter 1||300715|REc, H|||Mental retardation, X-linked 95, 300716 (3); Immunodeficiency,|X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3)| |X(Magt1)|
23.387|10|29|99|Xq13.3|ABCB7, ABC7, ASAT|P|ATP-binding cassette-7||300135|A|||Anemia, sideroblastic, with ataxia, 301310 (3)| | |X(Abc7)|
23.388|2|3|04|Xq13.1|IGBP1|P|Immunoglobulin-binding protein 1||300139|A|||Corpus callosum, agenesis of, with mental retardation, ocular|coloboma and micrognathia, 300472 (3) | ||
23.389|5|19|06|Xq13.1-q22.1|CFTDX|P|Myopathy, congenital, with fiber-type disproportion, X-linked||300580|Fd|between DXS8019 and DXS99||Myopathy, congenital, with fiber-type disproportion, X-linked (2)| | ||
23.390|12|24|08|Xq21.1|TAF9B, TAF9L, TAFII31L|P|TAF9B RNA polymerase II, TATA box-binding protein-associated factor,|31kD|300754|R, REc|||| | ||
23.391|9|14|95|Xq13.2|CDX4|P|Caudal type homeo box transcription factor 4||300025|REn|||| | |X(Cdx4)|
23.392|11|19|13|Xq13.3|KIAA2022, MRX98|P|KIAA2022 gene||300524|Ch|inv(X)(q13;p22)||Mental retardation, X-linked 98, 300912 (3)| | ||
23.393|10|25|11|Xq13.2|MRXSAB|P|Abidi X-linked mental retardation syndrome||300262|Fd|||Mental retardation, X-linked syndromic, Abidi type (2)| | ||
23.394|6|1|12|Xq13.2|NAP1L2, BPX|P|Nucleosome assembly protein 1-like 2||300026|REc|||| | ||
23.395|2|8|11|Xq13.2|NCRNA00183, JPX, ENOX|P|Noncoding RNA 183||300832|REc|||| | ||
23.396|6|21|05|Xq13.2|SLC16A2, DXS128, XPCT|C|Solute carrier family 16 (monocarboxylic acid transporters),|member 2|300095|RE|||Allan-Herndon-Dudley syndrome, 300523 (3)| | ||
23.397|3|29|99|Xq13.2|TSIX|P|X-inactivation-specific transcript-antisense||300181|REn|||| | ||
23.398|3|17|98|Xq13.2|XIC, XCE, XIST, SXI1|C|X chromosome controlling element (X-inactivation center)||314670|Ch, S, A|q13-q21; metaphase bend, or fold, at q13.3-q21.1||X-inactivation, familial skewed, 300087 (3)| | |X(Xce)|
23.399|4|15|11|Xq21.1|PGAM4, PGAM3|P|Phosphoglycerate mutase family member 4||300567|REn|||| | ||
23.400|5|21|99|Xq21.1|SH3BGR|P|SH3-binding domain glutamic acid-rich protein-like||300190|A|||| | ||
23.401|5|26|13|Xq13.3|UPRT|P|Uracil phosphoribosyltransferase, S. cerevisiae, homolog of||300656|REc|||| | ||
23.402|2|21|06|Xq13.3|ZDHHC15, MRX91|P|Zinc finger DHHC domain-containing protein 15||300576|REc, Ch|||Mental retardation, X-linked 91, 300577 (3)| | ||
23.403|3|8|00|Xq21.1|ITM2A, E25A|P|Integral membrane protein 2A||300222|A|||| | |X(Itm2a)|
23.404|5|18|12|Xq21|DELXq21, CXDELq21|P|Chromosome Xq21 deletion syndrome||303110|Ch|at least CHM and POU3F4 deleted||Choroideremia, deafness, and mental retardation (4)| | ||
23.405|7|17|06|Xq21.1-q21.2|FLJ22792, POF1B, POF2B|P|FLJ22792 gene||300603|REc, Ch|||Premature ovarian failure 2B, 300604 (3)| | ||
23.406|3|6|01|Xq21.1|RPS6KA6, RSK4|P|Ribosomal protein S6 kinase, 90kD, 6||300303|REc|||| | ||
23.407|7|17|01|Xq21.33|EPAG|P|Early lymphoid activation gene||300347|A, REa|||| | ||
23.408|10|3|05|Xq21-q25|PARK12|P|Parkinson disease-12||300557|Fd|max lod with DXS1106, DXS8055, DXS1001||Parkinson disease 12 (2)| | ||
23.409|3|24|09|Xq21.1|CYLC1|P|Cylicin 1||300768|REc|||| | ||
23.410|12|11|12|Xq21.1|COX7B, APLCC|P|Cytochrome c oxidase, subunit VIIb||300885|REc|||Aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial|dysmorphism and other congenital anomalies, 300887 (3) | ||
23.411|10|15|13|Xq21.1|FGF16, MF4|P|Fibroblast growth factor 16||300827|REc|previously mapped to 8q21.3||Metacarpal 4-5 fusion, 309630 (3)| | ||
23.412|8|2|13|Xq21.1|GPR174, GPCR17|P|G protein-coupled receptor 174||300903|REc|||| | |X(Gpr174)|
23.413|5|28|13|Xq21.1|P2RY10, P2Y10|P|Purinergic receptor P2Y, G protein-coupled, 10||300529|REc|||| | ||
23.414|3|18|08|Xq21.1|POU3F4, DFN3, DFNX2|P|POU domain, class 3, transcription factor 4||300039|Fd, D, H, REn|||Deafness, X-linked 2, 304400 (3)| | |X(Pou3f4)|
23.415|10|29|11|Xq21.1|ZNF711, ZNF6, CMPX1, MRX97|P|Zinc finger protein-711||314990|REa, A|||Mental retardation, X-linked 97, 300803 (3)| | ||
23.416|5|1|02|Xq21.2|CHM, TCD|C|Rab escort protein 1||300390|Fd, LD, D, A, Ch, X/A|||Choroideremia, 303100 (3)| | |X(rep1)|
23.417|2|26|09|Xq21.3|AD16|P|Alzheimer disease 16||300756|Fd|associated with rs5984894||{Alzheimer disease 16} (2)| | ||
23.418|5|26|13|Xq21.2|DACH2|P|Dachshund, Drosophila, homolog of, 2||300608|REc|||| | |X(Dach2)|
23.419|5|28|13|Xq21.31|KLHL4|P|Kelch-like 4||300348|REc|||| | ||
23.420|4|30|03|Xq21.31|PABPC5, PABP5|P|Polyadenylate-binding protein, cytoplasmic, 5||300407|REa|||| | ||
23.421|7|26|02|Xq21.31-q21.32|PCDH11X, PCDH11, PCDHX|P|Protocadherin 11, X-linked||300246|REc|||| | ||
23.422|12|24|08|Xq22.1|BTK, AGMX1, IMD1, XLA, AT|C|Bruton agammaglobulinemia tyrosine kinase||300300|H, Fd, A|||Agammaglobulinemia, X-linked 1, 300755 (3); Agammaglobulinemia|and isolated hormone deficiency, 307200 (3) | |X(xid, Btp)|
23.423|6|29|99|Xq21.32|NAP1L3|P|Nucleosome assembly protein 1-like 3||300117|Psh|||| | ||
23.424|6|29|99|Xp22.2|TMSB4X, TMSB4, TB4X, PTMB4|P|Thymosin, beta-4, X chromosome||300159|Psh|||| | |X(Tmsb4x)|
23.425|8|27|01|Xq22.1|NXF3|P|Nuclear RNA export factor 3||300316|REc|||| | ||
23.426|3|23|09|Xq21.33|RPA4|P|Replication protein A4||300767|REc|||| | ||
23.427|7|31|08|Xq22.1|SYTL4|P|Synaptotagmin-like 4||300723|REc|||| | ||
23.428|3|14|06|Xq22.1|ARMCX1, ALEX1|P|Armadillo repeat containing, X-linked 1||300362|R|||| | ||
23.429|3|14|06|Xq22.1|ARMCX2, ALEX2, KIAA0512|C|Armadillo repeat containing, X-linked 2||300363|R|||| | ||
23.430|3|14|06|Xq22.1|ARMCX3, ALEX3|P|Armadillo repeat containing, X-linked 3||300364|REc|||| | ||
23.431|10|28|11|Xq21.33-q23|MRXSCS|P|Mental retardation, X-linked, syndromic, Chudley-Schwartz type||300861|Fd|max lod at DXS1120||Mental retardation, X-linked, syndromic, Chudley-Schwartz type, (2)| | ||
23.432|4|30|09|Xq22.1|SRPX2, SRPUL, RESDX|P|SUSHI repeat-containing protein, X-linked, 2||300642|A, REc|||Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643|(3) | ||
23.433|5|28|13|Xq22.3|ATG4A, APG4A, AUTL2|P|Autophagy 4, S. cerevisiae, homolog of, A||300663|REc|||| | ||
23.434|2|6|08|Xq22.1|BEX2|P|Brain-expressed X-linked gene 2||300691|R|||| | ||
23.435|5|8|98|Xq21.33|DIAPH2, DIA, POF2|C|Diaphanous, Drosophila, homolog of, 2||300108|REc, A|||Premature ovarian failure, 300511 (3)| | ||
23.436|7|8|96|Xq22.1|DRP2|P|Dystrophin-related protein 2||300052|REc|||| | ||
23.437|10|21|96|Xq22.1|FSHPRH1, LRPR1|P|FSH primary response, rat, homolog of, 1||300065|REn, REc|||| | ||
23.438|3|10|62|Xq22.1|GPRASP1, GASP, KIAA0443|P|G protein-coupled receptor-associated sorting protein 1||300417|REc|conflicting assignment to chr.9||| | ||
23.439|3|28|07|Xq22.1|GLA|C|Galactosidase, alpha||300644|S, R, A, Fd|||Fabry disease, 301500 (3); Fabry disease, cardiac variant, 301500 (3)| | |X(Ags)|
23.440|5|29|98|Xq22-q23|GUCY2F, GUC2F|P|Guanylate cyclase 2F||300041|A|||| | |X(Gucy2f)|
23.441|7|18|06|Xq22.1|HNRPH2|P|Heterogeneous nuclear ribonucleoprotein H'||300610|A, REc|second signal at 6q25.3-q26, pseudogene?||| | ||
23.442|11|4|00|Xq22.3|IL1RAPL2|P|Interleukin 1 receptor accessory protein-like 2||300277|REc|||| | ||
23.443|6|9|08|Xq23|KKLC1, CXorf61|P|Kita-Kyushu lung cancer antigen 1||300625|REc|||| | ||
23.444|10|20|99|Xq22.3|MID2|P|Midline 2||300204|REc|||| | |X(Mid2)|
23.445|6|6|03|Xq22.2|MORFL2, MRGX, KIAA0026|P|Mortality factor 4-like 2||300409|A|||| | ||
23.446|01|03|00|Xq22.1|NOX1, MOX1, NOH1|P|NADPH oxidase 1||300225|REc|||| | ||
23.447|2|24|10|Xq22.1|PCDH19, KIAA1313, EFMR, EIEE9|C|Protocadherin 19||300460|R, REc, Fd|||Epileptic encephalopathy, early infantile, 9, 300088 (3)| | ||
23.448|1|29|13|Xq22.2|PLP1, PMD, HLD1, SPG2|C|Proteolipid protein 1||300401|REa, A, Ch, R, Fd|||Pelizaeus-Merzbacher disease, 312080 (3); Spastic paraplegia 2,|X-linked, 312920 (3) | |X(Plp(jp))|
23.449|4|25|08|Xq22.1|TNMD, TEM, CHM1L|P|Tenomodulin||300459|REc|||| | ||
23.450|1|20|06|Xq22.1|TSPAN6, TM4SF6|P|Tetraspanin 6||300191|A|||| | ||
23.451|8|24|01|Xq22.1|TIMM8A, DFN1, DDP, MTS, DDP1|C|Translocase of inner mitochondrial membrane 8, yeast, homolog of, A||300356|Fd, REn|||Deafness, X-linked 1, progressive (3); Mohr-Tranebjaerg syndrome,|304700 (3); Jensen syndrome, 311150 (3) | ||
23.452|8|9|11|Xq23|AGTR2, MRX88|C|Angiotensin receptor 2||300034|REa, A|||Mental retardation, X-linked 88, 300852 (3)| | |X(Agtr2)|
23.453|7|8|89|Xq22.3|MYCL2|P|MYCL-related processed gene||310310|REa|pseudogene on Xq27.3||| | ||
23.454|4|26|06|Xq24|MCTS1, MCT1|P|Malignant T-cell amplified sequence 1||300587|A|||| | ||
23.455|5|22|03|Xq24|PGRMC1|P|Progesterone receptor membrane component 1||300435|Psh|||| | ||
23.456|2|26|10|Xq22.3|PRPS1, CMTX5, DFNX1, DFN2|C|Phosphoribosyl pyrophosphate synthetase-1||311850|S, R, REa, A, Fd|||Gout, PRPS-related, 300661 (3); Phosphoribosylpyrophosphate|synthetase superactivity, 300661 (3); Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3); Arts syndrome, 301835 (3); Deafness, X-linked 1,|304500 (3) ||
23.457|11|6|92|Xq22-q28|AIH3|L|Amelogenesis imperfecta-3, hypomaturation or hypoplastic type||301201|Fd|||?Amelogenesis imperfecta-3, hypoplastic type (2)| | ||
23.458|2|11|11|Xq11.1-q11.2|ARHGEF9, PEM2, KIAA0424, EIEE8|C|Rho guanine nucleotide exchange factor 9||300429|REc|||Epileptic encephalopathy, early infantile, 8, 300607 (3)| | ||
23.459|2|6|08|Xq22.1|BEX5, NGFRAP1L1|P|BEX family member 5||300693|REc|||| | ||
23.460|11|1|13|Xq22.1|CSTF64|P|Cleavage stimulation factor, 3-prime pre-RNA, subunit 2, 64kD||300907|REc|||| | ||
23.461|11|19|13|Xq22.1|NXF5|P|Nuclear RNA export factor 5||300319|REc|||| | ||
23.462|6|26|13|Xq22.1|RPL36A, RPL44|P|Ribosomal protein L36A||300902|REc, R|||| | ||
23.463|4|04|00|Xq22.2|TCEAL1, P21, SIIR|P|Transcription elongation factor A-like 1||300237|A, REc|||| | ||
23.464|12|17|07|Xq22.1|XKRX, XPLAC, XKR2, XRG2|P|X Kell blood group precursor-related, X-linked||300684|REc|||| | ||
23.465|2|6|08|Xq22.1|BEX1|C|Brain-expressed X-linked gene 1||300690|REc, H|||| | |X(Bex1)|
23.466|5|10|04|Xq22.2|ESX1L, ESXR1|P|ESX1-like protein||300154|REc, H|||| | |X(Esx1)|
23.467|8|27|01|Xq22.1|NXF4|P|Nuclear RNA export factor 4||300318|REc|||| | ||
23.468|12|8|00|Xq22.2|RAB9B, RAB9L|P|RAS-associated protein RAB9B||300285|R|||| | ||
23.469|5|5|09|Xq22.1|TCEAL7|P|Transcription elongation factor A-like 7||300771|REc|||| | ||
23.470|5|26|13|Xq22.3|VSIG1, GPA34|P|V-set and immunoglobulin domains-containing protein 1||300620|REc|||| | ||
23.471|4|10|12|Xq23|CHRDL1, VOPT, MGC1|C|Chordin-like 1||300350|REc, Fd|||Megalocornea 1, X-linked 309300 (3)| | ||
23.472|10|10|01|Xq22.2|NGFRAP1, BEX3, NADE, DXS6984E|P|Nerve growth factor receptor (TNFRSF16) associated protein 1||300361|REc|||| | ||
23.473|2|6|08|Xq22.1|BEX4|P|BEX family member 4||300692|REc|||| | |X(Bex4)|
23.474|5|26|13|Xq22.2|H2BFWT|P|H2B histone family, member W, testis-specific||300507|REc|||| | ||
23.475|9|2|12|Xq22.1|RAB40AL, RLGP, MRXSMP|P|Ras-associated protein, RAB40A-like||300405|REc|||Mental retardation, X-linked, syndromic, Martin-Probst type, 300519|(3) | ||
23.476|5|27|05|Xq22.3|TBG|C|Thyroxine-binding globulin||314200|REa, A|||Thyroxine-binding globulin deficiency (3)| | ||
23.477|2|20|07|Xq22.3|TSC22D3, DSIPI, GILZ|P|TSC22 domain family, member 3||300506|A|||| | ||
23.478|4|26|01|Xq22.2-q26|MRX53|P|Mental retardation, X-linked-53||300324|Fd|||Mental retardation, X-linked 53 (2)| | ||
23.479|9|18|08|Xq23|ACSL4, FACL4, ACS4, MRX63|C|Acyl-CoA synthetase long-chain family member 4||300157|A, REc, Fd|||Mental retardation, X-linked 63, 300387 (3)| | ||
23.480|7|16|10|Xq22.3|AMMEC, DELXq22.3, CXDELq22.3|P|Alport syndrome, mental retardation, midface hypoplasia, and|elliptocytosis (AMME complex)|300194|Ch|contiguous gene deletion syndrome||Alport syndrome, mental retardation, midface hypoplasia, and|elliptocytosis (4) | ||
23.481|7|16|10|Xq23|AMMECR1|P|Alport syndrome, mental retardation, midface hypoplasia, and|elliptocytosis chromosomal region gene 1|300195|Ch|||| | ||
23.482|4|4|00|Xq22.3|COL4A5, ATS, ASLN|C|Collagen IV, alpha-5 polypeptide||303630|REa, A, Fd|diffuse leiomyomatosis with Alport syndrome = contiguous gene|syndrome with COL4A6|Alport syndrome, 301050 (3)| | |X(Col4a5)|
23.483|4|4|00|Xq22.3|COL4A6, DELXq22.3, CXDELq22.3|C|Collagen IV, alpha-6 polypeptide||303631|REn, A|diffuse leiomyomatosis with Alport syndrome = contiguous gene|with COL4A5|Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)| | ||
23.484|3|14|06|Xq22.3|FGS5|P|FG syndrome 5||300581|Ch|||FG syndrome 5 (2)| | ||
23.485|8|7|13|Xq22.3|IRS4|P|Insulin recetpor substrate 4||300904|REc|||| | ||
23.486|4|17|01|Xq23|KCNE1L|P|Potassium voltage-gated channel, Isk-related family, member 1-like||300328|REc|||| | ||
23.487|8|17|09|Xq22.3|NRK, NESK|P|NIK-related kinase||300791|REc, H|||| | |X(Nrk)|
23.488|9|24|12|Xq22.3|PSMD10, p28|P|Proteasome 26S subunit, non-ATPase, 10||300880|REc|||| | ||
23.489|3|22|06|Xq22.3|RIPPLY1|P|Ripply1, zebrafish, homolog of||300575|R, REc|||| | ||
23.490|5|15|11|Xq22.3|RNF128, GRAIL|C|Ring finger protein 128||300439|R, REc|||| | ||
23.491|5|28|13|Xq22.3|CLDN2|P|Claudin 2||300520|REc|||| | ||
23.492|8|25|98|Xq23|DCX, DBCN, LISX|C|Doublecortin||300121|REc, Fd, X/A|||Lissencephaly, X-linked, 300067 (3); Subcortical laminal|heteropia, X-linked, 300067 (3) | |X(Dcx)|
23.493|11|12|12|Xq23|ALG13, GLT28D1, CDG1S|P|Alg13, S. cerevisiae, homolog of||300776|REc|||Congenital disorder of glycosylation, type Is, 300884 (3)| | ||
23.494|1|7|13|Xq24|C1GALT1C1, COSMC, C1GALT2, TNPS|P|C1GALT1-specific chaperone 1||300611|REc|||Tn polyagglutination syndrome, somatic, 300622 (3)| | ||
23.495|5|26|13|Xq23|CAPN6|P|Calpain 6||300146|R|||| | ||
23.496|1|24|11|Xq24|CUL4B, MRXSC, MRXHF2, SFM2, MRXS15|C|Cullin-4B||300304|REc, F|||Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)| | ||
23.497|5|15|08|Xq23|IHPS4|P|Pyloric stenosis, infantile hypertrophic, 4||300711|Fd|max lod at rs3027802||Pyloric stenosis, infantile hypertrophic, 4 (2)| | ||
23.498|12|28|08|Xq23|LHFPL1|P|LHFP-like protein 1||300566|REc|||| | ||
23.499|5|28|13|Xq23|LUZP4|P|Leucine zipper protein 4||300616|REc|||| | ||
23.500|3|23|09|Xq23|MIR448, MIRN448|P|Micro RNA 448||300686|R|||| | ||
23.501|8|27|01|Xq23|NXT2|P|NTF2-related export protein 2||300320|REc|||| | ||
23.502|5|23|11|Xq23|PAK3, MRX30, MRX47|C|p21-activated kinase-3||300142|Fd, REc|||Mental retardation, X-linked 30/47, 300558 (3)| | ||
23.503|11|11|13|Xq23|PLS3, BMND18|P|Plastin 3||300131|Psh, REc|||Bone mineral density QTL18, osteoporosis, 300910 (3)| | ||
23.504|5|7|01|Xq23|TRPC5, TRP5|P|Transient receptor potential channel 5||300334|REc|||| | ||
23.505|6|26|13|Xq23|XACT|P|Active X chromosome-coating transcript, noncoding||300901|REc|||| | ||
23.506|9|2|08|Xq24|ZBTB33, KAISO|P|Zinc finger- and BTB domain-containing protein 33||300329|REc|||| | |X(Kaiso)|
23.507|1|27|04|Xq23-q24|MRX23|P|Mental retardation, X-linked-23||300046|Fd|other MRX in same region MRX27, MRX30, MRX35, MRX47, MRX80||Mental retardation, X-linked 23 (2)| | ||
23.508|10|8|08|Xq23|SLC6A14, OBX, BMIQ11|C|Solute carrier family 6 (neurotransmitter transporter), member 14||300444|REc, Fd|||{Obesity, susceptibility to, BMIQ11}, 300306 (3)| | ||
23.509|12|4|03|Xq23-q26|CHDS3|P|Coronary heart disease, susceptibility to, 3||300464|Fd|||{Coronary heart disease, susceptibility to, 3} (2)| | ||
23.510|10|28|10|Xq23-q27.2|MYP13|P|Myopia 13||300613|Fd|between DXS1210 and DXS1227||Myopia 13 (2)| | ||
23.511|3|17|08|Xq23-q27.3|DFNX5, AUNX1|P|Deafness, X-linked 5||300614|Fd|between DXS1220 and DXS8084||Deafness, X-linked 5 (2)| | ||
23.512|3|7|05|Xq24|AKAP14, AKAP28|P|A-kinase anchor protein 14||300462|REc|||| | ||
23.513|7|20|09|Xq24|CT47A1|P|Cancer/testis antigen family 45, member A1||300780|REc|||| | ||
23.514|7|20|09|Xq24|CT47A2|P|Cancer/testis antigen family 47, member A2||300781|REc|||| | ||
23.515|7|20|09|Xq24|CT47A3|P|Cancer/testis antigen family 47, member A3||300782|REc|||| | ||
23.516|7|20|09|Xq24|CT47A4|P|Cancer/testis antigen family 47, member A4||300783|REc|||| | ||
23.517|7|20|09|Xq24|CT47A5|P|Cancer/testis antigen family 47, member A5||300784|REc|||| | ||
23.518|7|20|09|Xq24|CT47A6|P|Cancer/testis antigen family 47, member A6||300785|REc|||| | ||
23.519|7|20|09|Xq24|CT47A7|P|Cancer/testis antigen family 47, member A7||300786|REc|||| | ||
23.520|7|20|09|Xq24|CT47A8|P|Cancer/testis antigen family 47, member A8||300787|REc|||| | ||
23.521|7|20|09|Xq24|CT47A9|P|Cancer/testis antigen family 47, member A9||300788|REc|||| | ||
23.522|7|20|09|Xq24|CT47A10|P|Cancer/testis antigen family 47, member A10||300789|REc|||| | ||
23.523|5|18|09|Xq24|CT47A11, LOC255313|P|Cancer/testis antigen family 47, member A11||300592|REc|||| | ||
23.524|7|20|09|Xq24|CT47B1, CT47A13|P|Cancer/testis antigen family 47, member B1||300790|REc|||| | ||
23.525|5|26|13|Xq24|DOCK11, ACG, ZIZ2|P|Dedicator of cytokinesis 11||300681|REc|||| | ||
23.526|5|18|95|Xq23|HTR2C|C|5-hydroxytryptamine (serotonin) receptor-2C||312861|REa, A, H, Fd|formerly HTR1C||| | |X(Htr2c)|
23.527|8|25|98|Xq23|IL13RA2|P|Interleukin-13 receptor, alpha-2||300130|A|||| | ||
23.528|5|26|13|Xq24|KLHL13, KIAA1309|P|Kelch-like 13||300655|REc|||| | ||
23.529|7|28|11|Xq24|LAMP2, LAMPB, LGP110|C|Lysosome-associated membrane protein-2||309060|A, D|||Danon disease, 300257 (3)| | |X(Lamp2)|
23.530|9|27|01|Xq24|MRSS|P|Mental retardation, X-linked, with short stature||300360|Fd|||Mental retardation, X-linked, with short stature (2)| | ||
23.531|11|13|07|Xq24|NDUFA1, MWFE|P|NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kD||300078|A|||Mitochondrial complex I deficiency, 252010 (3)| | ||
23.532|7|13|09|Xq24|NKAP|P|NFKB-activating protein||300766|R, REc|||| | ||
23.533|7|20|09|Xq24|NKRF, NRF|P|NFKB-repressing factor||300440|R, REc|||| | ||
23.534|5|4|12|Xq24|RHOXF1, OTEX, PEPP1|P|RHOX homeobox family, member 1||300446|REc|||| | |X(Pem)|
23.535|5|4|12|Xq24|RHOXF2, PEPP2|P|RHOX homeobox family, member 2||300447|REc|||| | |X(Pem)|
23.536|5|29|13|Xq24|RPL39|C|Ribosomal protein L39||300899|REc, Psh, R|||| | ||
23.537|5|12|00|Xq26.1|SLC25A14, BMCP1|P|Solute carrier family 25 (mitochondrial carrier), member 14||300242|REc|||| | |X(Slc25a14)|
23.538|3|12|07|Xq24|SLC25A43|P|Solute carrier family 25, member 43||300641|REc|||| | |X(Slc25a43)|
23.539|3|5|08|Xq24|ZCCHC12, SIZN1|P|Zinc finger CCHC domain-containing protein 12||300701|REc|||| | ||
23.540|2|10|05|Xq24-q25|MRX82|P|Mental retardation, X-linked 82||300518|Fd|between DXS6805 and DXS7346||Mental retardation, X-linked 82 (2)| | ||
23.541|10|4|02|Xq24-q25|RRDX|P|Radial ray deficiency||300378|Fd|||Radial ray deficiency (2)| | ||
23.542|11|15|08|Xq24-q25|SPG34|P|Spastic paraplegia 34, X-linked||300750|Fd|max lod at DXS8057||Spastic paraplegia 34, X-linked (2)| | ||
23.543|2|17|09|Xq24-q25|STQTL6|P|Stature quantitative trait locus 6||300591|Fd|max lod at DXS8067||{Stature QTL 6} (2)| | ||
23.544|10|25|11|Xq24|UBE2A, RAD6A, MRXSN, MRXS30|P|Ubiquitin-conjugating enzyme E2A (RAD6 homolog)||312180|A, REa|||Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)| | ||
23.545|4|20|11|Xq24-q26|ADFN, ALDS|P|Albinism-deafness syndrome||300700|Fd|~8cM proximal to F9||Albinism-deafness syndrome (2)| | ||
23.546|3|6|00|Xq24|SLC25A5, ANT2, T3|C|Solute carrier family 25 (mitochondrial carrier), member 5|(adenine nucleotide translocator-2, fibroblast)|300150|REa|||| | ||
23.547|5|28|03|Xq24-q26.1|NAMSD, NADMR|P|Neuropathy, axonal motor-sensory, with deafness and mental retardation|(Cowchock syndrome)|310490|Fd|||Cowchock syndrome (2)| | ||
23.548|10|17|95|Xq24-q27|BZX|P|Bazex syndrome||301845|Fd|||Bazex syndrome (2)| | ||
23.549|2|23|08|Xq24|SEPT6, SEP2, KIAA0128|C|Septin 6||300683|REc, Psh|||| | ||
23.550|5|24|00|Xq24-q27.1|PTOS2, PTOSX|P|Ptosis, hereditary congenital 2||300245|Fd|||Ptosis, hereditary congenital 2 (2)| | ||
23.551|9|11|02|Xq24-qter|CND|P|Corneal dermoids||304730|Fd|||Dermoids of cornea (2)| | ||
23.552|7|18|06|Xq25|ACTRT1, ARPT1|P|Actin-related protein T1||300487|REc|||| | ||
23.553|4|3|12|Xq25|ODZ1, TNM1|P|ODZ, Drosophila, homolog of, 1||300588|REc|||| | ||
23.554|1|22|08|Xq26.1|BCORL1|P|BCL6 corepressor-like 1||300688|REc|||| | ||
23.555|4|17|07|Xq26.1|ENOX2|P|ECTO-NOX disulfide-thiol exchanger 2||300282|R, REc|||| | ||
23.556|9|9|98|Xq24|GLUD2|C|Glutamate dehydrogenase-2||300144|A, REn|||| | ||
23.557|1|14|13|Xq26.2|IGSF1, IGDC1, CHTE|P|Immunoglobulin superfamily, member 1||300137|REn|||Hypothyroidism, central, and testicular enlargement, 300888 (3)| | ||
23.558|6|7|04|Xq25|SH2D1A, LYP, IMD5, XLP, XLPD1|C|SH2 domain protein 1A||300490|Fd, D|1cM from DXS42; no recombination with DXS37||Lymphoproliferative syndrome, X-linked, 1, 308240 (3)| | |X(Sh2d1a)|
23.559|11|22|10|Xq25|STAG2, SA2|P|Stromal antigen 2||300826|REc|||| | ||
23.560|11|19|11|Xq25|THOC2, THO2|P|THO complex 2 (Tho2, yeast, homolog of)||300395|R, REc|||| | ||
23.561|7|16|09|Xq25|XECD|P|Corneal dystrophy, endothelial, X-linked||300779|Fd|between DXS8057 and DXS1047||Corneal dystrophy, endothelial, X-linked (2)| | ||
23.562|1|7|11|Xq25|XIAP, BIRC4, API3, XLP2|C|Inhibitor of apoptosis, X-linked||300079|A|||Lymphoproliferative syndrome, X-linked, 2, 300635 (3)| | |X(Api3)|
23.563|11|22|13|Xq26.1|XPNPEP2, AEACEI|C|X-prolyl aminopeptidase 2 (aminopeptidase P)||300145|REa, A|||{Angioedema induced by ACE inhibitors, susceptibility to}, 300909|(3) | ||
23.564|4|1|08|Xq25|GRIA3, GLUR3, MRX94|C|Glutamate receptor, ionotropic, AMPA 3||305915|Psh, A, Ch|||Mental retardation, X-linked 94, 300699 (3)| | |X(Glur3)|
23.565|3|29|99|Xq25-q26|SXI2|P|X inactivation, familial skewed, 2||300179|Fd|||X inactivation, familial skewed, 2 (2)| | ||
23.566|10|11|07|Xq24|UPF3B, RENT3B, MRXS14|P|UPF3 regulator of nonsense transcripts, yeast, homolog of, B||300298|REc|||Mental retardation, X-linked, syndromic 14, 300676 (3)| | ||
23.567|8|25|98|Xq25-q26.1|THAS, TAS|P|Thoracoabdominal syndrome||313850|Fd|||Thoracoabdominal syndrome (2)| | ||
23.568|3|1|01|Xq26.1|APLN|P|Apelin||300297|REc|||| | ||
23.569|8|25|92|Xq25-q27|PGS, MRXS5|P|Pettigrew syndrome (mental retardation, X-linked, with Dandy-Walker|malformation, basal ganglia disease, and seizures)|304340|Fd|||Pettigrew syndrome (2)| | ||
23.570|6|5|09|Xq25-q27|LKMCD|P|Leukoencephalopathy with metaphyseal chondrodysplasia||300660|Fd|between DXS8093 and DXS1232||Leukoencephalopathy with metaphyseal chondrodysplasia (2)| | ||
23.571|4|23|08|Xq25-q27.1|SCAX5|P|Spinocerebellar ataxia, X-linked 5||300703|Fd|between DXS1047 and DXS1227||Spinocerebellar ataxia, X-linked 5 (2)| | ||
23.572|5|15|03|Xq26.3|ARHGEF6, MRX46, COOL2|C|Rho guanine nucleotide exchange factor-6||300267|Ch, Fd|||Mental retardation, X-linked 46, 300436 (3)| | ||
23.573|4|16|03|Xq26|CMTX3|P|Charcot-Marie-Tooth neuropathy, X-linked recessive, 3||302802|Fd|between DXS984 and DXS8106||Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 (2)| | ||
23.574|10|28|99|Xq26.3|CXX1|P|CAAX box protein 1||300213|REc|||| | ||
23.575|7|13|09|Xq26.1|ELF4, MEF|P|E74-like factor 4||300775|A|||| | ||
23.576|10|4|02|Xq26.2|GPC3, SDYS, SGBS1|C|Glypican 3||300037|A|||Simpson-Golabi-Behmel syndrome, type 1, 312870 (3); Wilms tumor,|somatic, 194070 (3) | ||
23.577|2|5|99|Xq26.2|GPC4|P|Glypican 4||300168|A|centromeric to GPC3||| | ||
23.578|7|14|93|Xq26|GUST|P|Gustavson mental retardation syndrome (with microcephaly, optic|atrophy, deafness)|309555|Fd|||Gustavson syndrome (2)| | ||
23.579|2|7|01|Xq27.2|MAGEC1|P|Melanoma antigen, family C, 1||300223|R, A|||| | ||
23.580|7|11|11|Xq26.2|MASK, MST4|P|MST3- and SOK1-related kinase||300547|A, REc|||| | ||
23.581|3|14|03|Xq26.2|MBNL3, MBXL|P|Muscleblind-like protein 3||300413|REn|||| | ||
23.582|1|23|02|Xq26|MRX42|P|Mental retardation, X-linked nonspecific, 42||300372|Fd|?pericentromeric region||Mental retardation, X-linked 42 (2)| | ||
23.583|1|23|01|Xq26.3|PLAC1|P|Placenta-specific gene 1||300296|REc|||| | |X(Plac1)|
23.584|7|9|99|Xq26.3|RBMX|P|RNA-binding motif protein, X chromosome||300199|REc|||| | |X(Rbmx)|
23.585|10|16|94|Xq26|SHFM2, SHFD2|P|Split hand/foot malformation, type (ectrodactyly) 2||313350|Fd|||Split hand/foot malformation 2 (2)| | ||Faiyax (1992)
23.586|4|8|02|Xq26.3|TNFSF5, CD40LG, HIGM1, IGM|C|Tumor necrosis factor ligand superfamily, member 5||300386|Fd, A, Psh|Between DSX144E and DSX300||Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)| | |X(CD40l)|
23.587|2|22|10|Xq26.3|ZNF75D, ZNF75|P|Zinc finger protein-75D||314997|REa, A|1Mb distal to HPRT||| | ||
23.588|6|2|08|Xq26-q27|CFSS|L|Craniofacioskeletal syndrome||300712|Fd|||?Craniofacioskeletal syndrome (2)| | ||
23.589|6|8|89|Xq26-q27|HPT, HPTX, HYPX|C|Hypoparathyroidism||307700|Fd|?mutations in SOX3||Hypoparathyroidism, X-linked (2)| | ||
23.590|4|10|00|Xq26-q27|MRXS11, SMRXS|P|Shashi X-linked mental retardation syndrome (Mental retardation,|X-linked, syndromic 11)|300238|Fd|||Mental retardation, X-linked syndromic, Shashi type (2)| | ||
23.591|11|2|98|Xq26-q27|RP24|P|Retinitis pigmentosa-24||300155|Fd|||Retinitis pigmentosa 24 (2)| | ||
23.592|8|25|98|Xq26.2-q26.3|HPRT1, HPRT|C|Hypoxanthine phosphoribosyltransferase 1||308000|S, M, C, R, REa, Fd|||Lesch-Nyhan syndrome, 300322 (3); HPRT-related gout, 300323 (3)| | |X(Hprt)|
23.593|6|29|99|Xq26.3|BRS3|P|Bombesin-like receptor 3||300107|Psh|||| | ||
23.594|11|12|97|Xq26-qter|INDX|P|Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury||300076|Fd|||Wood neuroimmunologic syndrome (2)| | ||
23.595|1|31|13|Xq26.1|AIFM1, PDCD8, AIF, COXPD6, COWCK, CMTX4|C|Apoptosis-inducing factor, mitochondrion-associated, 1||300169|REc|||Combined oxidative phosphorylation deficiency 6, 300816 (3);|Cowchock syndrome, 310490 (3) | ||
23.596|5|26|13|Xq26.1|GPR119, GPCR2|P|G protein-coupled receptor 119||300513|REc|||| | |X(Gpr119)|
23.597|1|21|09|Xq25-q26|OCRL, LOCR, OCRL1, NPHL2|C|Phosphatidylinositol polyphosphate 5-phosphatase|(OCRL gene)|300535|X/A, Fd|||Lowe syndrome, 309000 (3); Dent disease 2, 300555 (3)| | ||Mueller (1991); Attree (1992)
23.598|5|28|13|Xq26.1|SASH3, HACS2, CXorf9, SLY|P|SAM and SH3 domain containing 3||300441|REc|||| | ||
23.599|8|19|98|Xq25|SMARCA1, SNF2L1|P|SWI/SNF related, matrix associated, actin dependent regulator of|chromatin, subfamily a, member 1|300012|RE|||| | ||
23.600|5|28|13|Xq26.1|UTP14A|P|Utp14, S. cerevisiae, homolog of, A||300508|REc|||| | |X(Utp14a)|
23.601|12|2|09|Xq26.1|ZDHHC9, DHHC9, MRXSZ|C|Zinc finger DHHC domain-containing protein 9||300646|R, REc|||Mental retardation, X-linked syndromic, Raymond type, 300799 (3)| | ||
23.602|3|24|06|Xq26.3|VGLL1, VGL1, TDU|P|Vestigial-like 1||300583|REc|||| | ||
23.603|11|19|11|Xq26.2|FRMD7, NYS1, XIPAN|P|FERM domain-containing 7||300628|REc|||Nystagmus 1, congenital, X-linked, 310700 (3); Nystagmus, infantile|periodic alternating, X-linked, 310700 (3) | ||
23.604|6|30|05|Xq26.2|HS6ST2|P|Heparan sulfate 6-O-sulfotransferase 2||300545|R, REc|||| | ||
23.605|3|23|09|Xq26.2|MIR19B2, MIRN19B2|P|Micro RNA 19B2||300722|REc|||| | ||
23.606|9|9|09|Xq26.2|MIR106A, MIRN106A|P|Micro RNA 106A||300792|REc|||| | ||
23.607|5|11|09|Xq26.2|TFDP3, HCA661, CT30, DP4|P|Transcription factor DP family, member 3||300772|REc|||| | ||
23.608|4|25|05|Xq26.2|USP26|C|Ubiquitin-specific protease 26||300309|R, REc|||| | ||
23.609|5|4|12|Xq26.3|ZIC3, HTX1, HTX, VACTERLX|C|Zic family member-3||300265|Fd, REc|||Heterotaxy, visceral, 1, X-linked 306955 (3); Congenital heart|defects, nonsyndromic, 1, X-linked, 306955 (3); VACTERL association, X-linked, 314390 (3)| ||
23.610|4|30|09|Xq26.3|CT45A1, CT45|P|Cancer/testis antigen family 45, member A1||300648|REc|||| | ||
23.611|9|2|09|Xq26.3|CT45A2, CT45.2|P|Cancer/testis antigen family 45, member A2||300793|REn|||| | ||
23.612|9|2|09|Xq26.3|CT45A3, CT45.3|P|Cancer/testis antigen family 45, member A3||300794|REn|||| | ||
23.613|9|2|09|Xq26.3|CT45A4, CT45.4|P|Cancer/testis antigen family 45, member A4||300795|REn|||| | ||
23.614|9|2|09|Xq26.3|CT45A5, CT45.5|P|Cancer/testis antigen family 45, member A5||300796|REn|||| | ||
23.615|9|2|09|Xq26.3|CT45A6, CT45.6|P|Cancer/testis antigen family 45, member A6||300797|REn|||| | ||
23.616|5|28|13|Xq26.3|MOSPD1|P|Motile sperm domain-containing protein 1||300674|REc|||| | |X(Mospd1)|
23.617|6|16|99|Xq26.2|PHF6, BFLS|C|PHD finger protein 6||300414|Fd, REc|||Borjeson-Forssman-Lehmann syndrome, 301900 (3)| | ||
23.618|6|16|99|Xq26.3-q27.1|FGF13, FGF2|C|Fibroblast growth factor-13||300070|REa, H, REc, Ch|||| | |X(Fhf2)|
23.619|5|28|13|Xq26.3|HTATSF1, TATSF1|P|HIV-1 TAT stimulatory factor 1||300346|REc, R|||| | ||
23.620|3|23|09|Xq26.3|MIR424, MIRN424, MIR322|P|Micro RNA 424||300682|REc|||| | ||
23.621|12|19|11|Xq26.3|MIR503|P|Micro RNA 503||300865|REc|||| | ||
23.622|5|6|08|Xq26.3|SLC9A6, NHE6|C|Solute carrier family 9 (sodium/hydrogen exchanger), member 6||300231|R|||Mental retardation, X-linked syndromic, Christianson type, 300243 (3)| | ||
23.623|6|2|08|Xq27.1|SOX3, MRGH|C|SRY (sex determining region Y)-box 3||313430|REa, H, Fd|P mutant in BFLS||Mental retardation, X-linked, with isolated growth hormone|deficiency, 300123 (3); Panhypopituitarism, X-linked, 312000 (3) | |X(Sox3)|
23.624|3|24|11|Xq26.3|SRXX3|P|46XX sex reversal 3||300833|Ch|due to deletion/duplication/rearrangement upstream of SOX3||46XX sex reversal 3 (4)| | ||
23.625|11|30|06|Xq26.3|ZNF449, ZSCAN19|P|Zinc finger protein 449||300627|REc|||| | ||
23.626|4|30|01|Xq27.2|SPANXC, CTP11|P|Sperm protein associated with the nucleus, X chromosome, family|member C|300330|REa, REc|||| | ||
23.627|5|26|13|Xq27.1|ATP11C, ATPIQ, ATPIG|P|ATPase, class VI, type 11C||300516|REc|||| | ||
23.628|5|18|05|Xq27|BMND4|P|Bone mineral density QTL 4||300536|Fd|||[Bone mineral density QTL 4] (2)| | ||
23.629|5|7|01|Xq28|CNGA2, CNG2, OCNC1|P|Cyclic nucleotide-gated channel, alpha-2||300338|REc|||| | ||
23.630|8|5|97|Xq27|COD2|P|Cone dystrophy-2, X-linked||300085|Fd|||Cone dystrophy, progressive X-linked, 2 (2)| | ||
23.631|11|28|05|Xq27.3|CXorf1|P|Chromosome X open reading frame 1||300565|REc|between DXS369 and DXS181||| | ||
23.632|4|27|12|Xq27.3|FMR1AS1, ASFMR1|P|FMR1 antisense RNA 1||300805|REc|||| | ||
23.633|8|27|02|Xq27.1|LDOC1|P|Leucine zipper downregulated in cancer 1||300402|A|||| | ||
23.634|12|30|03|Xq27.2|MAGEC3|P|Melanoma antigen, family C, 3||300469|REc|||| | ||
23.635|3|19|09|Xq27.2|MAGEC2, MAGEE1, MAGEC2, CT10, HCA587|C|Melanoma antigen, family C, 2||300468|REa, A, R|||| | ||
23.636|1|25|91|Xq27.1|MCF2, DBL|C|Oncogene MCF2 (oncogene DBL)||311030|REa, A, RE, D|~60kb telomeric to F9; 5' replacement by chr.15 segment||| | |X(Mcf2)|
23.637|12|28|08|Xq27.3|SLITRK2, KIAA1854|C|SLIT- and NTRK-like family, member 2||300561|REc, H|||| | |X(Slitrk2)|
23.638|12|28|08|Xq27.3|SLITRK4|C|SLIT- and NTRK-like family, member 4||300562|REc, H|||| | |X(Slitrk4)|
23.639|5|26|13|Xq27.3|SPANXN1|P|SPANX family, member N1||300664|REc|||| | |X(Spanxn)|
23.640|5|28|13|Xq27.3|SPANXN2|P|SPANX family, member N2||300665|REc|||| | ||
23.641|5|26|13|Xq27.3|SPANXN3|P|SPANX family, member N3||300666|REc|||| | ||
23.642|5|28|13|Xq27.3|SPANXN4|P|SPANX family, member N4||300667|REc|||| | ||
23.643|2|1|00|Xq27|TGCT1|P|Testicular germ cell tumor 1||300228|Fd|||Testicular germ cell tumor (2)| | ||
23.644|7|25|06|Xq27-q28|MCOPS4, ANOP1|L|Microphthalmia, syndromic 4||301590|F|||?Microphthalmia, syndromic 4 (2)| | ||
23.645|9|29|98|Xq27-q28|HPCX1|P|Prostate cancer, hereditary, X-linked 1||300147|Fd|between D3S2390 and bG82i1.0||{Prostate cancer, hereditary, X-linked 1} (2)| | ||
23.646|7|25|06|Xq27-q28|MCOPS1, MAA, LZMS|P|Microphthalmia, syndromic 1 (Lenz microphthalmia syndrome)||309800|Fd|||Microphthalmia, syndromic 1 (2)| | ||
23.647|5|28|13|Xq27.1|CIRS7, CDR1AS|P|Circular RNA sponge for MIR7||300898|REc|||| | ||
23.648|9|21|11|Xq27.1|HTC2, HCG, CGH, CXINSq27.1,|P|Hypertrichosis, congenital generalized||307150|Fd|palindrome-mediated interchromosomal insertion at Xq27.1||Hypertrichosis, congenital generalized (4)| | ||
23.649|3|19|01|Xq27.2|SPANXA1, SPANX|P|Sperm protein associated with the nucleus, X chromosome, family|member A1|300305|REa, A|||| | ||
23.650|5|26|13|Xq27.2|SPANXD|P|SPANX family, member D||300670|REc|||| | ||
23.651|5|26|13|Xq27.1|SPANXE|P|SPANX family, member E||300671|REc|||| | ||
23.652|7|7|98|Xq27.1|CDR1, CDR62A|C|Cerebellar degeneration-related protein-1, 34kD||302650|REa, A, Fd|between HPRT and F9||| | |X(Cdr)|
23.653|3|1|12|Xq27.1|F9, HEMB, THPH8|C|Coagulation factor IX (plasma thromboplastic component)||300746|REa, A, Fd, D, X/A, RE|distal to HPRT; proximal part of Xq27||Hemophilia B, 306900 (3); {Warfarin sensitivity}, 122700 (3);|Thrombophilia, X-linked, due to factor IX defect, 300807 (3); {Deep venous thrombosis, protection against}, 300807 (3)| |X(Cf9)|
23.654|5|26|13|Xq27.1|SPANXB1, SPANXB|P|SPANX family, member B1||300669|REc|||| | ||
23.655|10|12|09|Xq26.3|FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B|C|Four-and-a-half LIM domains 1||300163|Psh, A, R|||Scapuloperoneal myopathy, X-linked dominant, 300695 (3); Myopathy,|X-linked, with postural muscle atrophy, 300696 (3); Myopathy, reducing body, X-linked, severe early-onset, 300717 (3); Myopathy, reducing body, X-linked,|childhood-onset, 300718 (3); Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)||
23.656|4|30|09|Xq27.2-q28|BPP, PMGX, CBPS|P|Polymicrogyria, bilateral perisylvian||300388|Fd|possible genetic hetergeneity||Polymicrogyria, bilateral perisylvian (2)| | ||
23.657|12|23|05|Xq27.2|SPANXA2|P|Sperm protein associated with the nucleus, X chromosome, family|member A2|300493|REn|||| | ||
23.658|10|21|04|Xq27.3|DYX9|P|Dyslexia, susceptibility to, 9||300509|Fd|max lod at DXS8043||{Dyslexia, susceptibility to, 9} (2)| | ||
23.659|9|19|11|Xq27.3|FMR1, FRAXA, POF1|C|FMR1 gene||309550|Ch, F, Fd, RE|8-8.7Mb from telomere||Fragile X syndrome, 300624 (3); Fragile X tremor/ataxia syndrome,|300623 (3); Premature ovarian failure 1, 311360 (3) | |X(Fmr1)|Gedeon (1992); Oberle (1992)
23.660|9|2|12|Xq27.3|MIR506|P|Micro RNA 506||300877|REc|||| | ||
23.661|9|2|12|Xq27.3|MIR508|P|Micro RNA 508||300874|REc|||| | ||
23.662|9|2|12|Xq27.3|MIR509-1|P|Micro RNA 509-2||300875|REc|||| | ||
23.663|9|2|12|Xq27.3|MIR509-3|P|Micro RNA 509-3||300876|REc|||| | ||
23.664|12|19|11|Xq27.3|MIR510|P|Micro RNA 510||300866|REc|||| | ||
23.665|3|28|12|Xq27.3-q28|DUPXq27.3q28, CXDUPq27.3q28|P|Chromosome Xq27.3-q28 duplication syndrome||300869|Ch|||Chromosome Xq27.3-q28 duplication syndrome (4)| | ||
23.666|8|3|95|Xq27.3-qter|EBM|P|Epidermolysis bullosa, macular type||302000|Fd|||| | ||
23.667|6|21|13|Xq28|ABCD1, ALD, AMN|C|ATP-binding cassette, subfamily D, member 1||300371|F, Fd, D|about 650kb from GCP/RCP||Adrenoleukodystrophy, 300100 (3); Adrenomyeloneuropathy, adult,|300100 (3) | |X(Ald)|
23.668|11|11|09|Xq28|AFF2, FMR2, FRAXE, MRX2|P|AF4/FMR2 family, member 2 (fragile site, X-linked, E)||300806|Ch, REn|||Mental retardation, X-linked, FRAXE type, 309548 (3)| | ||
23.669|11|1|13|Xq28|BCAP31, BAP31, DXS1357E, DDCH|P|B-cell receptor-associated protein 31||300398|REa|||Deafness, dystonia, and cerebral hypomyelination, 300475 (3)| | |X(Bap31)|
23.670|4|26|11|Xq28|BED|P|Bornholm eye disease||300843|Fd|linked to F8||Bornholm eye disease (2)| | ||
23.671|1|15|13|Xq28|ATP2B3, PMCA3, SCAX1|P|ATPase, Ca++ transporting, plasma membrane, 3||300014|REa, A, Fd|||Spinocerebellar ataxia, X-linked 1, 302500 (3)| | ||
23.672|7|15|02|Xq28|ATP6IP1, ATP6S1, VATPS1|C|ATPase, H+ transporting, lysosomal interacting protein 1||300197|REc|||| | ||
23.673|10|4|05|Xq28|AVPR2, DIR, DI1, ADHR|C|Arginine vasopressin receptor-2||300538|Fd, S, REa, Psh|||Diabetes insipidus, nephrogenic, 304800 (3); Nephrogenic syndrome|of inappropriate antidiuresis, 300539 (3) | ||
23.674|4|25|93|Xq28|BGN|C|Biglycan||301870|REa, A|proximal Xq28||| | |X(Bgn)|
23.675|6|26|11|Xq28|BRCC3, BRCC36|P|BRCA1/BRCA2-containing complex, subunit 3||300617|Psh|||| | ||
23.676|9|8|11|Xq28|CD99L2, CD99B|P|CD99 antigen-like 2||300846|REc|||| | |X(Cd99l2)|
23.677|5|18|95|Xq28|CETN2, CALT|P|Centrin, EF-hand protein, 2 (caltractin)||300006|A|||| | ||
23.678|12|15|12|Xq28|CLIC2, XAP121, MRXS32|P|Chloride intracellular channel 2||300138|REc|||Mental retardation, X-linked, syndromic 32, 300886 (3)| | ||
23.679|5|26|13|Xq28|CTAG1A, LAGE2A|P|Cancer/testis antigen 1A||300657|REc|||| | ||
23.680|11|5|98|Xq28|CTAG1B, CTAG1|P|Cancer/testis antigen 1B||300156|REa, A|||| | ||
23.681|5|28|13|Xq28|CTAG2, LAGE1, CAMEL|P|Cancer/testis antigen 2||300396|Psh, A|||| | ||
23.682|3|29|10|Xq28|DUPXq28, CXq28|P|Chromosome Xq28 duplication syndrome||300815|Ch|||Chromosome Xq28 duplication syndrome (4)| | ||
23.683|9|19|13|Xq28|DKC1, DKCX|C|Dyskerin||300126|Fd, REc|||Dyskeratosis congenita, X-linked, 305000 (3)| | |X(Dkc1)|
23.684|5|19|97|Xq28|DNASE1L1, DNL1L|P|Deoxyribonuclease I-like 1||300081|RE|between QM and DXS1010E||| | ||
23.685|5|28|13|Xq28|DUSP9, MKP4|P|Dual-specificity phosphatase 9||300134|Psh, REc|||| | ||
23.686|3|22|93|Xq28|DXS522E, F8B|P|DNA segment, single copy, expressed probes, intron 22 probe, F8B||305424|RE|||| | ||
23.687|4|4|02|Xq28|EMD, EDMD, STA|C|Emerin||300384|F, Fd, H, REn|in distal Xq28||Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)| | ||
23.688|9|13|92|Xq28|F8A, DXS522E, HAP40|C|Factor VIII associated gene 1||305423|RE|3 copies, 1 in intron 22 of F8C||| | |X(F8a)|
23.689|9|28|00|Xq28|F8, F8C, HEMA|C|Coagulation factor VIII, procoagulant component||300841|F, Fd, REa, A, RE|cen-G6PD-3' end of F8C-5'-ter; 1.1Mb from telomere||Hemophilia A, 306700 (3)| | |X(Cf8)|
23.690|5|28|13|Xq28|FAM3A|P|Family with sequence similarity 3, member A||300492|REc|||| | ||
23.691|11|22|09|Xq28|FAM11A, FRAXF|P|Family with sequence similarity 11, member A||300031|REc|||| | ||
23.692|6|18|12|Xq28|FAM50A, DXS9928E, HXC26|P|Family with sequence similarity 50, member A||300453|REc|||| | ||
23.693|4|23|08|Xq28|FAM58A, STAR|P|Family with sequence similarity 58, member A||300708|REc|||STAR syndrome, 300707 (3)| | ||
23.694|6|19|12|Xq28|FATE1|P|Fetal and adult testis-expressed gene 1||300450|REc|||| | ||
23.695|10|29|10|Xq28|FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS|C|Filamin A, alpha (actin-binding protein-280)||300017|REa, A, REn|||Heterotopia, periventricular, 300049 (3); Otopalatodigital syndrome,|type I, 311300 (3); Otopalatodigital syndrome, type II, 304120 (3); Intestinal pseudoobstruction, neuronal, 300048 (3); Melnick-Needles syndrome, 309350 (3);|Frontometaphyseal dysplasia, 305620 (3); Heterotopia, periventricular, ED variant, 300537 (3); FG syndrome 2, 300321 (3); Cardiac valvular dysplasia, X-linked, 314400 (3); Terminal osseous dysplasia, 300244 (3); Congenital short bowel syndrome, 300048 (3)|X(Fln1)| 
23.696|11|9|13|Xq28|G6PD, G6PD1|C|Glucose-6-phosphate dehydrogenase||305900|F, S, REb, RE|||Hemolytic anemia due to G6PD deficiency, 300908 (3); Favism, 134700|(3); {Resistance to malaria due to G6PD deficiency}, 611162 (3) | |X(G6pd)|
23.697|5|28|13|Xq28|GAB3|P|GRB2-associated binding protein 3||300482|REc, R|||| | ||
23.698|12|29|89|Xq28|GABRA3|C|Gamma-aminobutyric acid (GABA) A receptor, alpha-3||305660|H, REa, A, RE|4Mb from telomere||| | |X(Gabra3)|
23.699|6|9|98|Xq28|GABRE|P|Gamma-aminobutyric acid (GABA) A receptor, epsilon||300093|REn|||| | ||
23.700|8|30|01|Xq28|GABRQ|P|Gamma-aminobutyric acid receptor, theta||300349|REc|||| | ||
23.701|9|8|11|Xq28|GDI1, RABGD1A, MRX41, MRX48|P|GDP dissociation inhibitor 1||300104|REn|||Mental retardation, X-linked 41, 300849 (3)| | ||
23.702|6||10|Xq28|HAUS7, UCHL5IP, UIP1|P|HAUS augmin-like complex, subunit 7||300540|REc|||| | ||
23.703|5|14|95|Xq28|HMS1, GAY1|L|Homosexuality, male||306995|Fd|||[?Homosexuality, male] (2)| | ||
23.704|2|7|01|Xq28|GPR50|P|G protein-coupled receptor 50||300207|R|||| | |X(Gpr50)|
23.705|2|8|13|Xq28|H2AFB, H2ABBD|P|H2A histoe family, member B||300445|REc|||| | ||
23.706|11|1|13|Xq28|HCFC1, HCF1, MRX3|C|Host cell factor C1 (VP16-accessory protein)||300019|REn, REa, A, Fd|50kb distal to V2R||Mental retardation, X-linked 3 (methylmalonic acidemia and|homocysteinemia, cblX type ), 309541 (3) | |X(Hcfc1)|
23.707|8|27|02|Xq28|HMGB3, HMG4, HMG2A|P|High-mobility group box 3|(high mobility group protein 4)|300193|REc|||| | ||
23.708|4|21|99|Xq28|IDH3G|C|Isocitrate dehydrogenase 3 (NAD+), gamma||300089|REc|||| | ||
23.709|2|9|11|Xq28|IDS, MPS2, SIDS|C|Iduronate 2-sulfatase (Hunter syndrome)||300823|X/A, Fd, F, RE|telomeric IDS2 source of inversion in IDS||Mucopolysaccharidosis II, 309900 (3)| | |X(Ids)|
23.710|2|6|07|Xq28|IKBKG, NEMO, FIP3, IP2, IPD2, AMCBX1|C|Inhibitor of kappa light polypeptide gene enhancer in B cells, kinase|of, gamma (NF-kappa-B essential modulator)|300248|Fd, REn|||Incontinentia pigmenti, type II, 308300 (3); Ectodermal dysplasia,|hypohidrotic, with immune deficiency, 300291 (3); Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3); Immunodeficiency,|isolated, 300584 (3); {Atypical mycobacteriosis, familial}, 300636 (3); Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3)|X(Ikbkg)|
23.711|11|6|95|Xq28|IL9R|C|Interleukin-9 receptor||300007|A, REc|in PAR2 pseudoautosomal region||| | ||
23.712|2|1|01|Xq28|IRAK1|P|Interleukin 1 receptor-associated kinase 1||300283|R|||| | |X(Irak1)|
23.713|7|8|96|Xq28|ITBA2|P|ITBA2 gene||300060|RE|||| | ||
23.714|1|29|13|Xq28|L1CAM, CAML1, HSAS1, MASA, SPG1|C|L1 cell adhesion molecule||308840|A, RE, H, Fd|between RCP/GCP cluster and G6PD||Hydrocephalus due to aqueductal stenosis, 307000 (3); MASA syndrome,|303350 (3); CRASH syndrome, 303350 (3); Hydrocephalus with Hirschsprung disease, 307000 (3); Hydrocephalus with congenital idiopathic intestinal|pseudoobstruction, 307000 (3); Corpus callosum, partial agenesis of, 304100 (3) |X(L1cam)|
23.715|3|14|13|Xq28|LINC00850, KUCG1|P|Long intergenic noncoding RNA 850||300892|REc|||| | ||
23.716|5|6|08|Xq28|MAFD2, MDX|L|Major affective disorder 2||309200|F|linkage to G6PD,CB in non-Ashkenazi Jews||{?Major affective disorder 2} (2)| | ||
23.717|2|5|96|Xq28|MAGE1|C|Melanoma antigen 1 (directs expression of antigen MZ2-E)||300016|REa, A|cluster of 12 genes||| | ||
23.718|6|29|99|Xq28|MAGEA2, MAGE2|P|Melanoma antigen, family A, 2||300173|RE, REn|||| | ||
23.719|5|26|13|Xq28|MAGEA2B|P|Melanoma antigen, family A, 2B||300549|REc|||| | ||
23.720|6|29|99|Xq28|MAGEA3, MAGE3|C|Melanoma antigen, family A, 3||300174|RE, REn|||| | ||
23.721|6|29|99|Xq28|MAGEA4, MAGE4A, MAGE4B|P|Melanoma antigen, family A, 4||300175|RE, REn|||| | ||
23.722|7|17|01|Xq28|MAGEA5, MAGE5|P|Melanoma antigen, family A, 5||300340|REa, REc|||| | |X(Mage5)|
23.723|7|17|01|Xq28|MAGEA8, MAGE8|P|Melanoma antigen, family A, 8||300341|REa, REc|||| | |X(Mage8)|
23.724|7|17|01|Xq28|MAGEA9, MAGE9|P|Melanoma antigen, family A, 9||300342|REa, REc|||| | ||
23.725|3|19|09|Xq28|MAGEA9B|P|Melanoma antigen, family A, 9B||300764|REc|||| | ||
23.726|7|17|01|Xq28|MAGEA10, MAGE10|P|Melanoma antigen, family A, 10||300343|REa, REc|||| | ||
23.727|7|17|01|Xq28|MAGEA11, MAGE11|P|Melanoma antigen, family A, 11||300344|REc, REa|||| | ||
23.728|6|29|99|Xq28|MAGEA6, MAGE6|P|Melanoma antigen, family A, 6||300176|RE, REn|||| | ||
23.729|6|29|99|Xq28|MAGEA12, MAGE12|P|Melanoma antigen, family A, 12||300177|RE, REn|||| | ||
23.730|2|23|09|Xq28|MAMLD1, CXorf6, F18, HYSP2|C|Mastermind-like domain containing 1||300120|REc, D|near MTM1 in microdeletion||Hypospadias 2, X-linked, 300758 (3)| | ||
23.731|5|4|09|Xq28|MEAX, XMEA|P|Myopathy, X-linked, with excessive autophagy||310440|Fd|between rs1149374 and BV106355||Myopathy, X-linked, with excessive autophagy (2)| | ||
23.732|9|7|07|Xq28|MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16|C|Methyl-CpG-binding protein-2||300005|H, REc, Ch, Fd, A|70kb centromeric of RCP/GCP||Rett syndrome, 312750 (3); Mental retardation, X-linked, syndromic|13, 300055 (3); Rett syndrome, preserved speech variant, 312750 (3); Encephalopathy, neonatal severe, 300673 (3); {Autism susceptibility, X-linked|3}, 300496 (3); Angelman syndrome, 105830 (3); Mental retardation, X-linked syndromic, Lubs type, 300260 (3)|X(Mecp2)|
23.733|12|21|09|Xq28|MIR105-1, MIRN105-1|P|Micro RNA 105-1||300811|REc|||| | ||
23.734|12|21|09|Xq28|MIR105-2, MIRN105-2|P|Micro RNA 105-2||300812|REc|||| | ||
23.735|4|1|09|Xq28|MIR224, MIRN224|P|Micro RNA 224||300769|REc|||| | ||
23.736|10|21|92|Xq28|MPP1, PEMP, EMP55|P|Membrane protein, palmitoylated-1, 55kD||305360|REa, REn|~30kb 3' and centromeric to F8||| | |X(Emp55)|
23.737|10|23|87|Xq28|MRSD, CHRS|P|Mental retardation-skeletal dysplasia||309620|Fd|||Mental retardation-skeletal dysplasia (2)| | ||Dlouhy (1987); Tsien (1992)
23.738|9|19|00|Xq28|MRXSA|P|Armfield X-linked mental retardation syndrome||300261|Fd|||Mental retardation syndrome, X-linked, Armfield type (2)| | ||
23.739|6|15|99|Xq28|MTCP1|P|Mature T-cell proliferation 1||300116|Ch, A|||| | ||
23.740|12|20|02|Xq28|MTM1, MTMX|C|Myotubularin||300415|Fd, REc|close to F8||Myotubular myopathy, X-linked, 310400 (3)| | ||
23.741|3|29|99|Xq28|MTMR1|P|Myotubularin-related protein-1||300171|REc|||| | ||
23.742|6|28|11|Xq28|MYMY4, CXDELq38|P|Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism|and facial dysmorphism|300845|Ch|contiguous gene deletion syndrome (3.4kb)||Moyamoya disease 4 (4)| | ||
23.743|11|12|98|Xq28|MYP1|P|Myopia 1, X-linked||310460|Fd|||Myopia-1 (2)| | ||
23.744|8|25|11|Xq28|NAA10, ARD1A, ARD1, TE2, NATD|P|N-alpha-acetyltransferase 10, NatA catalytic subunit||300013|RE|||N-terminal acetyltransferase deficiency, 300855 (3)| | ||
23.745|2|11|11|Xq28|NSDHL|P|NAD(P)H steroid dehydrogenase-like protein||300275|REc|||CHILD syndrome, 308050 (3); CK syndrome, 300831 (3)| | |X(Nsdhl)|
23.746|9|13|10|Xq28|OPN1C|P|OPN1LW and OPN1MW genes, controller of||300824|REc|||| | ||
23.747|9|13|10|Xq28|OPN1LW, RCP, CBP, CBBM|C|Red cone pigment (opsin 1, long-wave-sensitive)||300822|F, RE, A, Fd|5' to CBD||Colorblindness, protan, 303900 (3); Blue cone monochromacy, 303700|(3) | |X(Rsvp)|
23.748|8|30|10|Xq28|OPN1MW, GCP, CBD, CBBM|C|Green cone pigment (opsin 1, medium-wave-sensitive)||300821|F, RE, A, Fd|linked to G6PD; multiple genes||Colorblindness, deutan, 303800 (3); Blue cone monochromacy, 303700|(3) | |X(Rsvp)|
23.749|1|11|07|Xq28|PDZD4, PDZK4, PDZRN4L, KIAA1444, LU1|C|PDZ domain-containing 4||300634|R, REc, H|||| | |X(Pdzd4)|
23.750|11|29|99|Xq28|PLXNB3, PLXN6|P|Plexin B3||300214|REn|||| | ||
23.751|10|9|07|Xq28|PNCK, CAMK1B, BSTK3|P|Pregnancy-upregulated, nonubiquitous, CAM kinase||300680|H, REn|||| | |X(Pnck)|
23.752|5|26|13|Xq28|PNMA3, MA3|P|PARANEUPLASTIC ANTIGEN MA3||300675|REC|||| | ||
23.753|1|2|08|Xq28|PRRG3, PRGP3, TMG3|P|Proline-rich gamma-carboxyglutamic acid protein 3||300685|REc|||| | ||
23.754|3|29|10|Xq28|RAB39B, MRX72|C|Ras-associated protein RAB39B||300774|Fd, REc|||Mental retardation, X-linked 72, 300271 (3)| | ||
23.755|6|14|94|Xq28|RENBP|P|Renin-binding protein||312420|REn, Psh|||| | ||
23.756|2|15|96|Xq28|RGC1|P|Rho-GAP hematopoietic protein C1||300023|RE|||| | ||
23.757|7|19|06|Xq28|RP34|P|Retinitis pigmentosa 34||300605|Fd|||Retinitis pigmentosa 34 (2)| | ||
23.758|7|1|11|Xq28|RPL10, DXS648, QM, AUTSX5|C|Ribosomal protein L10||312173|S, RE|||{Autism, susceptibility to, X-linked 5}, 300847 (3)| | ||
23.759|12|4|03|Xq26.3|SAGE|P|Sarcoma antigen||300359|R|||| | ||
23.760|2|15|96|Xq28|SEX|P|Sex chromosome X transmembrane protein of HGF receptor family 3||300022|RE|||| | ||
23.761|7|18|13|Xq28|SLC6A8, CRTR, CCDS1|C|Solute carrier family 6 (neurotransmitter transporter, creatine),|member 8|300036|REa, Psh, A|distal to G6PD||Cerebral creatine deficiency syndrome 1, 300352 (3)| | |X(Slc6a8)|
23.762|3|16|10|Xq28|SLC10A3, P3|P|Solute carrier family 10 (sodium/bile acid cotransporter family)|member 3 (protein p3)|312090|RE, H|order: G6PD-3'-(7kb)-5'-P3-3'-(0.5kb)-5'-GDX||| | |X(P3)|
23.763|2|2|10|Xq28|SLEB15|P|Systemic lupus erythematosus, susceptibility to, 15||300809|Fd|associated with rs17435||{Systemic lupus erthematosus, susceptibility to, 15} (2)| | ||
23.764|5|25|09|Xq28|SPRY3|P|Sprouty, Drosophila, homolog of, 3||300531|REc|in pseudoautosomal region PAR2||| | ||
23.765|4|6|00|Xq28|SSR4, TRAPD|P|Signal sequence receptor, delta||300090|REc|||| | ||
23.766|7|17|12|Xq28|TAZ, EFE2, BTHS, CMD3A, LVNCX|C|Tafazzin||300394|Fd|||Barth syndrome, 302060 (3)| | ||
23.767|11|5|97|Xq28|TEX28|P|Testis-expressed gene on Xq28||300092|REn|||| | ||
23.768|8|25|98|Xq28|TKCR, TKC|C|Torticollis, keloids, cryptorchidism and renal dysplasia||314300|X/A|distal to G6PD||Goeminne TKCR syndrome (2)| | ||
23.769|10|15|98|Xq28|TKTL1, TKT2, TKR|P|Transketolase-like 1||300044|REf|between GCP and FLN1||| | ||
23.770|5|4|12|Xq28|TMEM187, CXorf12, DXS9878E, ITBA1 gene|P|Transmembrane protein 187||300059|RE|||| | ||
23.771|7|6|12|Xq28|TMLHE, BBOX2, TMLH, TMLHED, AUTSX6|P|Episilon-trimethyllysine hydroxylase||300777|REc|||Epsilon-trimethyllysine hydroxylase deficiency, 300872 (3)| | ||
23.772|9|10|07|Xq28|UBL4A, GDX, UBL4, DX254E|P|Ubiquitin-like 4A||312070|RE, H|40kb 3' to G6PD||| | |X(Gdx)|
23.773|12|11|02|Xq28|TREX2|P|3-prime repair exonuclease 2||300370|REc|||| | ||
23.774|10|12|09|Xq28|VAMP7, SYBL1, TIVAMP|P|Vesicle-associated membrane protein 7||300053|D|||| | ||
23.775|7|13|98|Xq28|VBP1|P|Von Hippel-Lindau binding protein-1||300133|REc|||| | |X(Vbp1)|
23.776|11|27|13|Xq28|VMA21|P|Vma21, S. cerevisiae, homolog of||300913|REc|||| | ||
23.777|10|4|91|Xq28|WSN, BGMR|P|Waisman syndrome (basal ganglion disorder with mental retardation)||311510|Fd|||Waisman parkinsonism-mental retardation syndrome (2)| | ||
23.778|10|23|87|Xq28|XM|P|Xm||314900|F|linked to DCB, PCB||| | ||
23.779|3|3|03|Xq28|ZNF185|P|Zinc finger protein 185||300381|REc|||| | ||
23.780|2|28|03|Xq23|AMOT, KIAA1071|P|Angiomotin||300410|Psh|||| | ||
23.781|2|28|12|Chr.X|CATMANS|L|Catel-Manzke syndrome||302380|Fd|||Catel-Manzke syndrome (2)| | ||
23.782|11|3|11|Chr.X|CCCSX|P|Cerebral-cerebellar-coloboma syndrome, X-linked||300864|Fd|||Cerebral-cerebellar-coloboma syndrome, X-linked (2)| | ||
23.783|2|3|04|Chr.X|CVMRF|P|Cubitus valgus with mental retardation and unusual facies||300471|Fd|||Cubitus valgus with mental retardation and unusual facies (2)| | ||
23.784|6|27|08|Chr.X|DFCTRPS|P|Deafness, cataract, retinitis pigmentosa, and sperm abnormalities||300719|Fd|||Deafness, cataract, retinitis pigmentosa, and sperm abnormalities (2)| | ||
23.785|2|7|01|Xp22.12|EIF1A, EIF4C, EIF1AX|P|Eukaryotic translation initiation factor 1A||300186|REa|||| | ||
23.786|3|29|01|Xp21.2|FTHL17|P|Ferritin heavy polypeptide-like 17||300308|R|||| | ||
23.787|3|9|12|Chr.X|THCYTX|P|Thrombocythemia, X-linked||300331|Fd|||Thrombocythemia, X-linked (2)| | ||
23.788|12|13|00|Xp11.22|GAGED2, XAGE1|P|G antigen, family D, 2||300289|REa|||| | ||
23.789|5|13|02|Xq26.3|GPR101|P|G protein-coupled receptor 101||300393|REc|||| | ||
23.790|10|16|02|Xp11.23|GRIPAP1, GRASP1, KIAA1167|P|GRIP1-associated protein 1||300408|R|||| | ||
23.791|8|25|98|Xq24|IL13RA1|P|Interleukin-13 receptor, alpha-1||300119|Psh|||| | ||
23.792|1|30|01|Xp11.21|KLF8, ZNF741, BKLF3|P|Kruppel-like factor 8||300286|R|||| | ||
23.793|7|26|06|Chr.X|MCOPCB1|P|Microphthalmia, isolated, with coloboma 1||300345|Fd|||Microphthalmia with coloboma 1 (2)| | ||
23.794|8|27|01|Xq22.1|NXF2|C|Nuclear RNA export factor 2||300315|REc, R|||| | ||
23.795|2|1|01|Xp11.23|PIM2|P|Oncogene PIM2||300295|R|||| | ||
23.796|5|7|01|Xq26.1|RAB33A|P|Ras-associated protein RAB33A||300333|REc|||| | ||
23.797|8|27|01|Xp22.2-p22.1|REPS2, POB1|P|RALBP1-associated EPS domain-containing protein 2||300317|R|||| | ||
23.798|9|19|00|Chr.X|RFMN|P|Roifman syndrome||300258|Fd|||Roifman syndrome (2)| | ||
23.799|11|3|11|Chr.X|SPGFX2|P|Spermatogenic failure, X-linked, 2||309120|Fd|||Spermatogenic failure, X-linked, 2 (2)| | ||
23.800|12|5|01|Xq22.1|TAF7L, TAF2Q|P|TAF7-like RNA polymerase II, TATA box-binding protein-associated|factor, 50kD|300314|R|||| | ||
23.801|3|29|01|Xq13.1|TEX11|P|Testis-expressed gene 11||300311|R|||| | ||
23.802|3|29|01|Xq22.3|TEX13A|P|Testis-expressed gene 13A||300312|R|||| | ||
23.803|3|29|01|Xq22.3|TEX13B|P|Testis-expressed gene 13B||300313|R|||| | ||
24.1|12|19|11|Yp11.32|AKAP17A, SFRS17A, XE7Y|P|A kinase (PRKA) anchor protein 17A||465000|REn|see 300015 locus||| | ||
24.2|10|4|93|Yp11.32|ASMTY|P|Acetylserotonin methyltransferase (Y chromosome)||402500|REa, Fd|pseudoautosomal||| | ||
24.3|3|23|04|Yp11.32|ASMTLY|P|Acetylserotonin methyltransferase-like, Y-linked||400011|REc|||| | ||
24.4|10|4|93|Yp11.31|MIC2Y|C|Antigen identified by monoclonal 12E7, Y homolog||450000|S, A, D, Fd|pseudoautosomal||| | ||
24.5|11|16|09|Yp11.32|SHOXY|P|Short stature homeo box, Y-linked||400020|Ch, A|pseudoautosomal||Short stature, idiopathic familial, 300582 (3); Leri-Weill|dyschondrosteosis, 127300 (3); Langer mesomelic dysplasia, 249700 (3)| ||
24.6|10|13|93|Yp11.2|TSPY1, TSPY|P|Testis-specific protein, Y-linked, 1||480100|RE|||| | ||
24.7|9|5|01|Yp11.32|CRLF2Y|P|Cytokine receptor-like factor 2, Y-linked||400023|A|pseudoautosomal||| | ||
24.8|10|4|93|Yp11.32|IL3RA, IL3RY, IL3RAY|P|Interleukin-3 receptor (Y chromosome)||430000|REa, A, REn|308385 = X homolog; pseudoautosomal||| | ||
24.9|10|28|08|Yp11.31|RPS4Y1|P|Ribosomal protein S4, Y-linked, 1||470000|REn|||| | ||
24.10|8|20|09|Yp11.31|SRY, TDF, TDY, SRXX1, SRXY1|C|Sex-determining region Y (testis determining factor)||480000|Ch, Fd|||46XY sex reversal 1, 400044 (3); 46XX sex reversal 1, 400045 (3)| | |Yp(Tdy, Sry)|
24.11|1|13|95|Yp11.31|ZFY|C|Zinc finger protein, Y-linked||490000|REn, A|||| | ||
24.12|7|10|02|Yp11.2|PCDH11Y, PCDH22, PCDHY|P|Protocadherin 22||400022|REc|||| | ||
24.13|8|5|97|Yp11.2|PRKY|P|Protein kinase, Y-linked||400008|A|||| | ||
24.14|3|23|04|Yp11.2|TBL1Y|P|Transducin-beta-like 1, Y-linked||400033|REc|||| | ||
24.15|2|28|03|Yp11.2|TGIF2LY, TGIFLY|P|Transforming growth factor-beta-induced factor 2-like, Y-linked||400025|REc|||| | ||
24.16|10|4|93|Yp11.2|AMELY, AMGL|C|Amelogenin (Y chromosome)||410000|D|301200 = X homolog||| | ||
24.17|10|4|93|Yp11.32|CSF2RY|P|Granulocyte-macrophage colony-stimulating factor receptor, alpha|subunit (Y chromosome)|425000|A|306250 = X homolog; distal to MIC2Y||| | ||
24.18|3|23|04|Yp11|XGR|P|XG regulator||489500|REc|in pseudoautosomal region||| | ||
24.19|10|4|93|Yp11.32|ANT3Y|P|Adenine nucleotide translocator-3 (Y chromosome)||403000|REc, REn|300151 = X homolog; proximal to CSF2RY||| | ||
24.20|7|8|99|Yq11.223|BPY2|P|Basic protein on Y chromosome, 2||400013|RE|||| | ||
24.21|3|23|04|Yq|HEY|L|Hairy ears, Y-linked||425500|Fd|||?Hairy ears, Y-linked (2)| | ||
24.22|5|14|96|Yq11.223|DAZ|P|Deleted in azoospermia||400003|D|?same as AZF||?Sertoli-cell-only syndrome (1)| | |17(dazla)|
24.23|3|16|09|Yq11.21|DDX3Y, DBY|P|DEAD/H box-3, Y-linked||400010|D|||| | ||
24.24|11|3|11|Yq11|DELYq11, CYDELq11, SPGFY1|P|Chromosome Yq11 interstitial deletion syndrome||400042|Ch|contiguous gene deletion syndrome||Spermatogenic failure, Y-linked, 1 (4)| | ||
24.25|8|19|09|Yq11.222|KDM5D, JARID1D, SMCY, HYA|P|Lysine-specific demethylase 5D||426000|D, REc|encodes H-Y epitope in mouse||| | |Yp(Smcy)|
24.26|7|9|99|Yq11.223|RBMY1A1, RBM1, YRRM1, RBM2|C|RNA binding motif protein, Y chromosome, family 1, member A1||400006|REc|||| | |Y(Rbmy)|
24.27|8|11|98|Yq11.221|UTY|P|Ubiquitously transcribed TPR gene on Y chromosome||400009|REn|||| | ||
24.28|3|23|04|Yq11.223|DAZ2|P|Deleted in azoospermia 2||400026|REc|||| | ||
24.29|3|23|04|Yq11.23|DAZ3|P|Deleted in azoospermia 3||400027|REc|||| | ||
24.30|3|23|04|Yq11.222|CYorf15A|P|Chromosome Y open reading frame 15A||400031|REc|||| | ||
24.31|3|23|04|Yq11.222|HSFY|P|Heat shock transcription factor, Y-linked||400029|REc|||| | ||
24.32|3|23|04|Yq11.223|RPS4Y2|P|Ribosomal protein S4, Y-linked||400030|REc|||| | ||
24.33|3|23|04|Yq11.2|CYorf15B|P|Chromosome Y open reading frame 15B||400032|REc|||| | ||
24.34|3|23|04|Yq11.221|NLGN4Y, KIAA0951|P|Neuroligin 4, Y-linked||400028|REc|||| | ||
24.35|11|2|04|Yq11.223|PRY2|P|PTPBL-related gene on Y, 2||400041|REc|||| | ||
24.36|11|3|11|Yq11.21|USP9Y, DFFRY, SPGFY2|P|Ubiquitin-specific protease-9, Y chromosome (Drosophila fat facets|related, Y-linked)|400005|REa, REc|||Spermatogenic failure, Y-linked, 2, 415000 (3)| | ||
24.37|8|19|09|Yq11.222|CDY2|P|Chromodomain protein, Y chromosome, 2||400018|REc|||| | ||
24.38|8|24|09|Yq11.221|TMSB4Y|P|Thymosin, beta-4, Y chromosome||400017|REc|||| | ||
24.39|8|24|09|Yq11.221|VCY, BPY1|P|Variably charged, Y chromosome||400012|REc|||| | ||
24.40|8|24|09|Yq11.222|XKRY|P|XK-related protein on Y chromosome||400015|REc|||| | ||
24.41|8|19|09|Yq11.223|EIF1AY|P|Eukaryotic translation initiation factor 1A, Y isoform||400014|REc|||| | ||
24.42|8|24|09|Yq11.223|PRY|P|PTPN13-like, Y-linked||400019|Psh|||| | ||
24.43|5|28|13|Yq11.223|TTTY4|P|Testis-specific transcript, Y-linked, 4||400037|REc|||| | ||
24.44|5|28|13|Yq11.223|TTTY5|P|Testis-specific transcript, Y-linked, 5||400038|REc|||| | ||
24.45|5|28|13|Yq11.223|TTTY6|P|Testis-specific transcript, Y-linked, 6||400039|REc|||| | ||
24.46|5|28|13|Yq11.223|TTY17|P|Testis-specific transcript, Y-linked, 17||400040|REc|||| | ||
24.47|8|19|09|Yq11.23|CDY1, CDY|P|Chromodomain protein, Y chromosome||400016|REc|||| | |Y(Cdy1)|
24.48|5|28|13|Yq11.23|CSPG4LY|P|Chondroitin sulfate proteoglycan 4-like, Y-linked||400034|REc|||| | ||
24.49|5|28|13|Yq11.23|GOLGA2LY|P|Golgi autoantigen, golgin subfamily A, 2-like, Y-linked||400035|REc|||| | ||
24.50|5|28|13|Yq11.23|TTTY3|P|Testis-specific transcript, Y-linked, 3||400036|REc|||| | ||
24.51|8|25|98|Yq12|GCY, TSY, STA|L|Growth control, Y-chromosome influenced||475000|Ch, D|||| | ||
24.52|3|20|08|Chr.Y|DFNY1|P|Deafness, Y-linked 1||400043|Fd|||Deafness, Y-linked 1 (1)| | ||
24.53|2|8|01|Chr.Y|RPY|P|Retinitis pigmentosa, Y-linked||400004|Fd|||Retinitis pigmentosa, Y-linked (2)| | ||
