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{"sheet":"OMIM-Gene-Map-Retrieval","index":0,"n_rows":430,"n_cols":14,"rows_kept":430}
["Gene Map Search - 'chronic obstructive pulmonary disease '"]
["Downloaded:","Feb 18, 2021"]
["Copyright (c) 1966-2021 Johns Hopkins University OMIM, data are provided for research purposes only."]
[]
["Cytogenetic location","Genomic coordinates (From NCBI/GRCh38)","Gene/Locus","Gene/Locus name","Gene/Locus MIM number","Approved Symbol","Entrez Gene ID","Ensembl Gene ID","Comments","Phenotype","Phenotype MIM number","Inheritance","Pheno map key","Mouse Gene (from MGI)"]
["1p36",null,"AD7CNTP","Alzheimer disease neuronal thread protein","607413"]
["1p36",null,"IBD7","Inflammatory bowel disease 7","605225",null,"57042",null,"associated with rs6426833","{Inflammatory bowel disease 7}","605225",null,"2"]
["1p36.31","1:6466091-6520091","PLEKHG5, KIAA0720, DSMA4, CMTRIC","Pleckstrin homology domain- and RhoGEF domain-containing protein G5","611101","PLEKHG5","57449","ENSG00000171680,ENST00000400915.7",null,"Charcot-Marie-Tooth disease, recessive intermediate C","615376","Autosomal recessive","3","Plekhg5"]
["1p36.31","1:6466091-6520091","PLEKHG5, KIAA0720, DSMA4, CMTRIC","Pleckstrin homology domain- and RhoGEF domain-containing protein G5","611101","PLEKHG5","57449","ENSG00000171680,ENST00000400915.7",null,"Spinal muscular atrophy, distal, autosomal recessive, 4","611067","Autosomal recessive","3","Plekhg5"]
["1p36.23","1:7961710-7985504","DJ1, PARK7","Oncogene DJ-1","602533","PARK7","11315","ENSG00000116288,ENST00000493678.5",null,"Parkinson disease 7, autosomal recessive early-onset","606324","Autosomal recessive","3","Park7"]
["1p36.22","1:10210569-10381602","KIF1B, CMT2A, CMT2A1, NBLST1","Kinesin family member 1B","605995","KIF1B","23095","ENSG00000054523,ENST00000676179.1","mutation identified in 1 CMT2A1 family","?Charcot-Marie-Tooth disease, type 2A1","118210","Autosomal dominant","3","Kif1b"]
["1p36.22","1:10210569-10381602","KIF1B, CMT2A, CMT2A1, NBLST1","Kinesin family member 1B","605995","KIF1B","23095","ENSG00000054523,ENST00000676179.1","mutation identified in 1 CMT2A1 family","{Neuroblastoma, susceptibility to, 1}","256700","Autosomal dominant; Somatic mutation","3","Kif1b"]
["1p36.22","1:10210569-10381602","KIF1B, CMT2A, CMT2A1, NBLST1","Kinesin family member 1B","605995","KIF1B","23095","ENSG00000054523,ENST00000676179.1","mutation identified in 1 CMT2A1 family","Pheochromocytoma","171300","Autosomal dominant","3","Kif1b"]
["1p36.22","1:11785722-11806102","MTHFR","Methylenetetrahydrofolate reductase","607093","MTHFR","4524","ENSG00000177000,ENST00000376583.7",null,"{Neural tube defects, susceptibility to}","601634","Autosomal recessive","3","Mthfr"]
["1p36.22","1:11785722-11806102","MTHFR","Methylenetetrahydrofolate reductase","607093","MTHFR","4524","ENSG00000177000,ENST00000376583.7",null,"{Schizophrenia, susceptibility to}","181500","Autosomal dominant","3","Mthfr"]
["1p36.22","1:11785722-11806102","MTHFR","Methylenetetrahydrofolate reductase","607093","MTHFR","4524","ENSG00000177000,ENST00000376583.7",null,"{Thromboembolism, susceptibility to}","188050","Autosomal dominant","3","Mthfr"]
["1p36.22","1:11785722-11806102","MTHFR","Methylenetetrahydrofolate reductase","607093","MTHFR","4524","ENSG00000177000,ENST00000376583.7",null,"{Vascular disease, susceptibility to}",null,null,"3","Mthfr"]
["1p36.22","1:11785722-11806102","MTHFR","Methylenetetrahydrofolate reductase","607093","MTHFR","4524","ENSG00000177000,ENST00000376583.7",null,"Homocystinuria due to MTHFR deficiency","236250","Autosomal recessive","3","Mthfr"]
["1p36.22","1:11980214-12013507","MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B","Mitofusin 2","608507","MFN2","9927","ENSG00000116688,ENST00000674817.1",null,"Charcot-Marie-Tooth disease, axonal, type 2A2A","609260","Autosomal dominant","3","Mfn2"]
["1p36.22","1:11980214-12013507","MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B","Mitofusin 2","608507","MFN2","9927","ENSG00000116688,ENST00000674817.1",null,"Charcot-Marie-Tooth disease, axonal, type 2A2B","617087","Autosomal recessive","3","Mfn2"]
["1p36.22","1:11980214-12013507","MFN2, KIAA0214, CMT2A2A, HMSN6A, CMT2A2B","Mitofusin 2","608507","MFN2","9927","ENSG00000116688,ENST00000674817.1",null,"Hereditary motor and sensory neuropathy VIA","601152","Autosomal dominant","3","Mfn2"]
["1p36.21","1:12500000-15900000","GBD2","Gallbladder disease 2","609918",null,"100048905",null,"between D1S1597 and D1S47","Gallbladder disease 2","609918",null,"2"]
["1p36.21","1:15438441-15449246","CTRC, CLCR","Chymotrypsin","601405","CTRC","11330","ENSG00000162438,ENST00000375949.5",null,"{Pancreatitis, chronic, susceptibility to}","167800","Autosomal dominant","3","Ctrc"]
["1p36.12","1:20633457-20651510","PINK1, PARK6","PTEN-induced putative kinase 1","608309","PINK1","65018","ENSG00000158828,ENST00000321556.5",null,"Parkinson disease 6, early onset","605909","Autosomal recessive","3","Pink1"]
["1p36.12","1:21217249-21345503","ECE1","Endothelin converting enzyme 1","600423","ECE1","1889","ENSG00000117298,ENST00000357071.8","mutation identified in 1 HCAD patient","?Hirschsprung disease, cardiac defects, and autonomic dysfunction","613870","Autosomal dominant","3","Ece1"]
["1p36.12","1:21217249-21345503","ECE1","Endothelin converting enzyme 1","600423","ECE1","1889","ENSG00000117298,ENST00000357071.8","mutation identified in 1 HCAD patient","{Hypertension, essential, susceptibility to}","145500","Multifactorial","3","Ece1"]
["1p36.11","1:25360658-25430192","RHCE, RHNA","Rhesus system C and E polypeptides","111700","RHCE","6006","ENSG00000188672,ENST00000413854.5","?order: C-E-D","[Blood group, Rhesus]",null,null,"3","Rhd"]
["1p36.11","1:25360658-25430192","RHCE, RHNA","Rhesus system C and E polypeptides","111700","RHCE","6006","ENSG00000188672,ENST00000413854.5","?order: C-E-D","Rh-null disease, amorph type","617970",null,"3","Rhd"]
["1p35.1","1:32775237-32817384","YARS1, YARS, CMTDIC, TYRRS, YTS, YRS","Tyrosyl-tRNA synthetase 1","603623","YARS1","8565","ENSG00000134684,ENST00000373477.8",null,"Charcot-Marie-Tooth disease, dominant intermediate C","608323","Autosomal dominant","3","Yars"]
["1p34.3","1:34300000-39600000","GBD3","Gallbladder disease 3","609919",null,"100048906",null,"new D2S255","Gallbladder disease 3","609919",null,"2"]
["1p32","1:50200000-60800000","PARK10, AAOPD","Parkinson disease 10","606852",null,"170534",null,"max lod at D1S2652; ?associated with CDCP2","{Parkinson disease 10}","606852",null,"2"]
["1p31","1:60800000-84400000","PAOD1","Peripheral arterial occlusive disease 1","606787",null,"171513",null,null,"Peripheral arterial occlusive disease 1","606787",null,"2"]
["1p31.3","1:63322566-63325127","FOXD3, AIS1, VAMAS2","Forkhead box D3","611539","FOXD3","27022","ENSG00000187140,ENST00000371116.4",null,"{Autoimmune disease, susceptibility to, 1}","607836","Autosomal dominant","3","Foxd3"]
["1p31.3","1:65264748-65415870","DNAJC6, DJC6, KIAA0473, PARK19","DNAJ heat shock protein family (Hsp40) member C6","608375","DNAJC6","9829","ENSG00000116675,ENST00000371069.5",null,"Parkinson disease 19a, juvenile-onset","615528","Autosomal recessive","3","Dnajc6"]
["1p31.3","1:65264748-65415870","DNAJC6, DJC6, KIAA0473, PARK19","DNAJ heat shock protein family (Hsp40) member C6","608375","DNAJC6","9829","ENSG00000116675,ENST00000371069.5",null,"Parkinson disease 19b, early-onset","615528","Autosomal recessive","3","Dnajc6"]
["1p31.3","1:67138638-67259978","IL23R, IBD17","Interleukin 23 receptor","607562","IL23R","149233","ENSG00000162594,ENST00000347310.10",null,"{Inflammatory bowel disease 17, protection against}","612261",null,"3","Il23r"]
["1p31.3","1:67138638-67259978","IL23R, IBD17","Interleukin 23 receptor","607562","IL23R","149233","ENSG00000162594,ENST00000347310.10",null,"{Psoriasis, protection against}","605606",null,"3","Il23r"]
["1p31.1","1:74235386-74544427","TNNI3K, CCDD","TNNI3-interacting kinase","613932","TNNI3K","51086","ENSG00000116783,ENST00000326637.8",null,"Cardiac conduction disease with or without dilated cardiomyopathy","616117","Autosomal dominant","3","Tnni3k"]
["1p22.1","1:92473042-92486924","GFI1, ZNF163, SCN2","Growth factor independent 1","600871","GFI1","2672","ENSG00000162676,ENST00000370332.5","mutation identified in 1 NICINA patient","?Neutropenia, nonimmune chronic idiopathic, of adults","607847","Autosomal dominant","3","Gfi1"]
["1p22.1","1:92473042-92486924","GFI1, ZNF163, SCN2","Growth factor independent 1","600871","GFI1","2672","ENSG00000162676,ENST00000370332.5","mutation identified in 1 NICINA patient","Neutropenia, severe congenital 2, autosomal dominant","613107","Autosomal dominant","3","Gfi1"]
["1p22.1","1:93992833-94121147","ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2","ATP-binding transporter, retina-specific","601691","ABCA4","24","ENSG00000198691,ENST00000370225.4",null,"{Macular degeneration, age-related, 2}","153800","Autosomal dominant","3","Abca4"]
["1p22.1","1:93992833-94121147","ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2","ATP-binding transporter, retina-specific","601691","ABCA4","24","ENSG00000198691,ENST00000370225.4",null,"Cone-rod dystrophy 3","604116",null,"3","Abca4"]
["1p22.1","1:93992833-94121147","ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2","ATP-binding transporter, retina-specific","601691","ABCA4","24","ENSG00000198691,ENST00000370225.4",null,"Fundus flavimaculatus","248200","Autosomal recessive","3","Abca4"]
["1p22.1","1:93992833-94121147","ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2","ATP-binding transporter, retina-specific","601691","ABCA4","24","ENSG00000198691,ENST00000370225.4",null,"Retinal dystrophy, early-onset severe","248200","Autosomal recessive","3","Abca4"]
["1p22.1","1:93992833-94121147","ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2","ATP-binding transporter, retina-specific","601691","ABCA4","24","ENSG00000198691,ENST00000370225.4",null,"Retinitis pigmentosa 19","601718","Autosomal recessive","3","Abca4"]
["1p22.1","1:93992833-94121147","ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2","ATP-binding transporter, retina-specific","601691","ABCA4","24","ENSG00000198691,ENST00000370225.4",null,"Stargardt disease 1","248200","Autosomal recessive","3","Abca4"]
["1p21.2","1:99850076-99924022","AGL, GDE","Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme)","610860","AGL","178","ENSG00000162688,ENST00000294724.8",null,"Glycogen storage disease IIIa","232400","Autosomal recessive","3","Agl"]
["1p21.2","1:99850076-99924022","AGL, GDE","Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme)","610860","AGL","178","ENSG00000162688,ENST00000294724.8",null,"Glycogen storage disease IIIb","232400","Autosomal recessive","3","Agl"]
["1p21.2","1:100186918-100249863","DBT, BCATE2","Dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex)","248610","DBT","1629","ENSG00000137992,ENST00000370132.8","pseudogene on 3q24","Maple syrup urine disease, type II","248600","Autosomal recessive","3","Dbt"]
["1p13.1","1:116372985-116410258","ATP1A1, CMT2DD, HOMGSMR2","ATPase, Na+K+ transporting, alpha-1 polypeptide","182310","ATP1A1","476","ENSG00000163399,ENST00000295598.10",null,"Charcot-Marie-Tooth disease, axonal, type 2DD","618036","Autosomal dominant","3","Atp1a1"]
["1p13.1","1:116372985-116410258","ATP1A1, CMT2DD, HOMGSMR2","ATPase, Na+K+ transporting, alpha-1 polypeptide","182310","ATP1A1","476","ENSG00000163399,ENST00000295598.10",null,"Hypomagnesemia, seizures, and mental retardation 2","618314","Autosomal dominant","3","Atp1a1"]
["1q21","1:143200000-155100000","AD13","Alzheimer disease-13","611152",null,"100188837",null,"max lod D1S498","{Alzheimer disease-13}","611152",null,"2"]
["1q21.1","1:143200000-147500000","NBLST6","Neuroblastoma, susceptibility to, 6","613017",null,"100306939",null,"?contiguous gene deletion or duplication disease","{Neuroblastoma, susceptibility to, 6}","613017",null,"2"]
["1q21.2","1:149390620-149471832","NOTCH2NLC, NIID, ETM6","NOTCH2 N-terminal-like protein C","618025","NOTCH2NLC","100996717","ENSG00000286219,ENST00000652191.1",null,"Neuronal intranuclear inclusion disease","603472","Autosomal dominant","3"]
["1q21.2","1:149390620-149471832","NOTCH2NLC, NIID, ETM6","NOTCH2 N-terminal-like protein C","618025","NOTCH2NLC","100996717","ENSG00000286219,ENST00000652191.1",null,"Tremor, hereditary essential, 6","618866","Autosomal dominant","3"]
["1q21.2","1:150508108-150513788","ECM1, URBWD","Extracellular matrix protein-1","602201","ECM1","1893","ENSG00000143369,ENST00000369049.8",null,"Urbach-Wiethe disease","247100","Autosomal recessive","3","Ecm1"]
["1q21.3","1:151281521-151292175","ZNF687, KIAA1441, PDB6","Zinc finger protein 687","610568","ZNF687","57592","ENSG00000143373,ENST00000324048.9","fused with AML1 in t(1;21)","Paget disease of bone 6","616833","Autosomal dominant","3","Zfp687"]
["1q22","1:155185823-155192914","MUC1, PUM, ADTKD2","Mucin 1, cell surface associated","158340","MUC1","4582","ENSG00000185499,ENST00000368392.7","5cM proximal to SPTA1","Tubulointerstitial kidney disease, autosomal dominant, 2","174000","Autosomal dominant","3"]
["1q22","1:155234451-155244626","GBA","Glucosidase, acid beta","606463","GBA","2629","ENSG00000177628,ENST00000368373.8","pseudogene GBAP ~16kb 3' to GBA","{Lewy body dementia, susceptibility to}","127750","Autosomal dominant","3","Gba"]
["1q22","1:155234451-155244626","GBA","Glucosidase, acid beta","606463","GBA","2629","ENSG00000177628,ENST00000368373.8","pseudogene GBAP ~16kb 3' to GBA","{Parkinson disease, late-onset, susceptibility to}","168600","Autosomal dominant; Multifactorial","3","Gba"]
["1q22","1:155234451-155244626","GBA","Glucosidase, acid beta","606463","GBA","2629","ENSG00000177628,ENST00000368373.8","pseudogene GBAP ~16kb 3' to GBA","Gaucher disease, perinatal lethal","608013","Autosomal recessive","3","Gba"]
["1q22","1:155234451-155244626","GBA","Glucosidase, acid beta","606463","GBA","2629","ENSG00000177628,ENST00000368373.8","pseudogene GBAP ~16kb 3' to GBA","Gaucher disease, type I","230800","Autosomal recessive","3","Gba"]
["1q22","1:155234451-155244626","GBA","Glucosidase, acid beta","606463","GBA","2629","ENSG00000177628,ENST00000368373.8","pseudogene GBAP ~16kb 3' to GBA","Gaucher disease, type II","230900","Autosomal recessive","3","Gba"]
["1q22","1:155234451-155244626","GBA","Glucosidase, acid beta","606463","GBA","2629","ENSG00000177628,ENST00000368373.8","pseudogene GBAP ~16kb 3' to GBA","Gaucher disease, type III","231000","Autosomal recessive","3","Gba"]
["1q22","1:155234451-155244626","GBA","Glucosidase, acid beta","606463","GBA","2629","ENSG00000177628,ENST00000368373.8","pseudogene GBAP ~16kb 3' to GBA","Gaucher disease, type IIIC","231005","Autosomal recessive","3","Gba"]
["1q22","1:156082572-156140080","LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS","Lamin A/C","150330","LMNA","4000","ENSG00000160789,ENST00000448611.6",null,"Cardiomyopathy, dilated, 1A","115200","Autosomal dominant","3","Lmna"]
["1q22","1:156082572-156140080","LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS","Lamin A/C","150330","LMNA","4000","ENSG00000160789,ENST00000448611.6",null,"Charcot-Marie-Tooth disease, type 2B1","605588","Autosomal recessive","3","Lmna"]
["1q22","1:156082572-156140080","LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS","Lamin A/C","150330","LMNA","4000","ENSG00000160789,ENST00000448611.6",null,"Emery-Dreifuss muscular dystrophy 2, autosomal dominant","181350","Autosomal dominant","3","Lmna"]
["1q22","1:156082572-156140080","LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS","Lamin A/C","150330","LMNA","4000","ENSG00000160789,ENST00000448611.6",null,"Emery-Dreifuss muscular dystrophy 3, autosomal recessive","616516","Autosomal recessive","3","Lmna"]
["1q22","1:156082572-156140080","LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS","Lamin A/C","150330","LMNA","4000","ENSG00000160789,ENST00000448611.6",null,"Heart-hand syndrome, Slovenian type","610140","Autosomal dominant","3","Lmna"]
["1q22","1:156082572-156140080","LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS","Lamin A/C","150330","LMNA","4000","ENSG00000160789,ENST00000448611.6",null,"Hutchinson-Gilford progeria","176670","Autosomal dominant; Autosomal recessive","3","Lmna"]
["1q22","1:156082572-156140080","LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS","Lamin A/C","150330","LMNA","4000","ENSG00000160789,ENST00000448611.6",null,"Lipodystrophy, familial partial, type 2","151660","Autosomal dominant","3","Lmna"]
["1q22","1:156082572-156140080","LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS","Lamin A/C","150330","LMNA","4000","ENSG00000160789,ENST00000448611.6",null,"Malouf syndrome","212112","Autosomal dominant","3","Lmna"]
["1q22","1:156082572-156140080","LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS","Lamin A/C","150330","LMNA","4000","ENSG00000160789,ENST00000448611.6",null,"Mandibuloacral dysplasia","248370","Autosomal recessive","3","Lmna"]
["1q22","1:156082572-156140080","LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS","Lamin A/C","150330","LMNA","4000","ENSG00000160789,ENST00000448611.6",null,"Muscular dystrophy, congenital","613205","Autosomal dominant","3","Lmna"]
["1q22","1:156082572-156140080","LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS","Lamin A/C","150330","LMNA","4000","ENSG00000160789,ENST00000448611.6",null,"Restrictive dermopathy, lethal","275210","Autosomal recessive","3","Lmna"]
["1q23.2","1:160288593-160343249","COPA, AILJK","Coatomer protein complex, subunit alpha","601924","COPA","1314","ENSG00000122218,ENST00000368069.7",null,"{Autoimmune interstitial lung, joint, and kidney disease}","616414","Autosomal dominant","3","Copa"]
["1q23.3","1:161303593-161309968","MPZ, CMT1B, CMTDID, DSS, CHN2","Myelin protein zero","159440","MPZ","4359","ENSG00000158887,ENST00000533357.5",null,"Charcot-Marie-Tooth disease, dominant intermediate D","607791","Autosomal dominant","3","Mpz"]
["1q23.3","1:161303593-161309968","MPZ, CMT1B, CMTDID, DSS, CHN2","Myelin protein zero","159440","MPZ","4359","ENSG00000158887,ENST00000533357.5",null,"Charcot-Marie-Tooth disease, type 1B","118200","Autosomal dominant","3","Mpz"]
["1q23.3","1:161303593-161309968","MPZ, CMT1B, CMTDID, DSS, CHN2","Myelin protein zero","159440","MPZ","4359","ENSG00000158887,ENST00000533357.5",null,"Charcot-Marie-Tooth disease, type 2I","607677","Autosomal dominant","3","Mpz"]
["1q23.3","1:161303593-161309968","MPZ, CMT1B, CMTDID, DSS, CHN2","Myelin protein zero","159440","MPZ","4359","ENSG00000158887,ENST00000533357.5",null,"Charcot-Marie-Tooth disease, type 2J","607736","Autosomal dominant","3","Mpz"]
["1q23.3","1:161303593-161309968","MPZ, CMT1B, CMTDID, DSS, CHN2","Myelin protein zero","159440","MPZ","4359","ENSG00000158887,ENST00000533357.5",null,"Dejerine-Sottas disease","145900","Autosomal dominant; Autosomal recessive","3","Mpz"]
["1q23.3","1:161303593-161309968","MPZ, CMT1B, CMTDID, DSS, CHN2","Myelin protein zero","159440","MPZ","4359","ENSG00000158887,ENST00000533357.5",null,"Hypomyelinating neuropathy, congenital, 2","618184","Autosomal dominant","3","Mpz"]
["1q23.3","1:161303593-161309968","MPZ, CMT1B, CMTDID, DSS, CHN2","Myelin protein zero","159440","MPZ","4359","ENSG00000158887,ENST00000533357.5",null,"Roussy-Levy syndrome","180800","Autosomal dominant","3","Mpz"]
["1q23.3","1:161505429-161524047","FCGR2A, IGFR2, CD32","Fc fragment of IgG receptor IIa","146790","FCGR2A","2212","ENSG00000143226,ENST00000271450.11","FCG2 and FCG3 within 250kb","{Lupus nephritis, susceptibility to}","152700","Autosomal dominant","3","Fcgr3"]
["1q23.3","1:161505429-161524047","FCGR2A, IGFR2, CD32","Fc fragment of IgG receptor IIa","146790","FCGR2A","2212","ENSG00000143226,ENST00000271450.11","FCG2 and FCG3 within 250kb","{Malaria, severe, susceptibility to}","611162",null,"3","Fcgr3"]
["1q23.3","1:161505429-161524047","FCGR2A, IGFR2, CD32","Fc fragment of IgG receptor IIa","146790","FCGR2A","2212","ENSG00000143226,ENST00000271450.11","FCG2 and FCG3 within 250kb","{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}","219700","Autosomal recessive","3","Fcgr3"]
["1q24.3","1:171185207-171212685","FMO2","Flavin-containing monooxygenase 2, pulmonary","603955","FMO2","2327","ENSG00000094963,ENST00000209929.10","probably cluster of FMO genes at 1q23-q25",{"$nulls":3},"Fmo2"]
["1q24.3","1:172659102-172666875","FASLG, TNFSF6, APT1LG1, FASL, ALPS1B","Fas ligand (TNF superfamily, member 6)","134638","FASLG","356","ENSG00000117560,ENST00000367721.3",null,"{Lung cancer, susceptibility to}","211980","Autosomal dominant; Somatic mutation","3","Fasl"]
["1q24.3","1:172659102-172666875","FASLG, TNFSF6, APT1LG1, FASL, ALPS1B","Fas ligand (TNF superfamily, member 6)","134638","FASLG","356","ENSG00000117560,ENST00000367721.3",null,"Autoimmune lymphoproliferative syndrome, type IB","601859","Autosomal dominant","3","Fasl"]
["1q25","1:173000000-185800000","AD14","Alzheimer disease 14","611154",null,"100188754",null,"max lod at D1S218","{Alzheimer disease-14}","611154",null,"2"]
["1q25.3","1:183555561-183590913","NCF2","Neutrophil cytosolic factor-2, 65kD","608515","NCF2","4688","ENSG00000116701,ENST00000367535.7",null,"Chronic granulomatous disease 2, autosomal recessive","233710","Autosomal recessive","3","Ncf2"]
["1q31","1:185800000-198700000","CELIAC7","Celiac disease, susceptibility to, 7","612005",null,"100301522",null,"associated with rs2816316","{Celiac disease, susceptibility to, 7}","612005",null,"2"]
["1q32.1","1:198700000-207100000","IBD23","Inflammatory bowel disease 23","612381",null,"100240733",null,"associated with rs3024505","{Inflammatory bowel disease 23}","612381",null,"2"]
["1q32","1:198700000-214400000","PARK16","Parkinson disease 16","613164",null,"100359403",null,"associated with rs823128","{Parkinson disease 16}","613164",null,"2"]
["1q32.1","1:200891073-200915741","INAVA, C1orf106, IBD29","Innate immunity activator","618051","INAVA","55765","ENSG00000163362,ENST00000413687.3",null,"{Inflammatory bowel disease 29}","618077","Autosomal dominant","3","Inava"]
["1q32.1","1:204154818-204166336","REN, RTD, ADTKD4","Renin","179820","REN","5972","ENSG00000143839,ENST00000272190.9","~24cM distal to AT3","[Hyperproreninemia]",null,null,"3","Ren1"]
["1q32.1","1:204154818-204166336","REN, RTD, ADTKD4","Renin","179820","REN","5972","ENSG00000143839,ENST00000272190.9","~24cM distal to AT3","Renal tubular dysgenesis","267430","Autosomal recessive","3","Ren1"]
["1q32.1","1:204154818-204166336","REN, RTD, ADTKD4","Renin","179820","REN","5972","ENSG00000143839,ENST00000272190.9","~24cM distal to AT3","Tubulointerstitial kidney disease, autosomal dominant, 4","613092","Autosomal dominant","3","Ren1"]
["1q32.1","1:206767601-206772493","IL10, CSIF, GVHDS","Interleukin-10","124092","IL10","3586","ENSG00000136634,ENST00000423557.1",null,"{Graft-versus-host disease, protection against}","614395",null,"3","Il10"]
["1q32.1","1:206767601-206772493","IL10, CSIF, GVHDS","Interleukin-10","124092","IL10","3586","ENSG00000136634,ENST00000423557.1",null,"{HIV-1, susceptibility to}","609423",null,"3","Il10"]
["1q32.1","1:206767601-206772493","IL10, CSIF, GVHDS","Interleukin-10","124092","IL10","3586","ENSG00000136634,ENST00000423557.1",null,"{Rheumatoid arthritis, progression of}","180300",null,"3","Il10"]
["1q41","1:214400000-223900000","RMD1","Rippling muscle disease 1","600332",null,"6022",null,null,"Rippling muscle disease-1","600332","Autosomal dominant","2"]
["1q41","1:223108400-223143280","TLR5, TIL3, SLEB1, MELIOS","Toll-like receptor-5","603031","TLR5","7100","ENSG00000187554,ENST00000642603.2",null,"{Legionnaire disease, susceptibility to}","608556",null,"3","Tlr5"]
["1q41","1:223108400-223143280","TLR5, TIL3, SLEB1, MELIOS","Toll-like receptor-5","603031","TLR5","7100","ENSG00000187554,ENST00000642603.2",null,"{Melioidosis, susceptibility to}","615557",null,"3","Tlr5"]
["1q41","1:223108400-223143280","TLR5, TIL3, SLEB1, MELIOS","Toll-like receptor-5","603031","TLR5","7100","ENSG00000187554,ENST00000642603.2",null,"{Systemic lupus erythematosus, resistance to}","601744",null,"3","Tlr5"]
["1q41","1:223108400-223143280","TLR5, TIL3, SLEB1, MELIOS","Toll-like receptor-5","603031","TLR5","7100","ENSG00000187554,ENST00000642603.2",null,"{Systemic lupus erythematosus, susceptibility to, 1}","601744",null,"3","Tlr5"]
["1q42.13","1:226870593-226903828","PSEN2, AD4, STM2, CMD1V","Presenilin 2","600759","PSEN2","5664","ENSG00000143801,ENST00000366783.8",null,"Alzheimer disease-4","606889","Autosomal dominant","3","Psen2"]
["1q42.13","1:226870593-226903828","PSEN2, AD4, STM2, CMD1V","Presenilin 2","600759","PSEN2","5664","ENSG00000143801,ENST00000366783.8",null,"Cardiomyopathy, dilated, 1V","613697","Autosomal dominant","3","Psen2"]
["2p25.1","2:9488485-9555829","ADAM17, TACE, NISBD1","ADAM metallopeptidase domain 17","603639","ADAM17","6868","ENSG00000151694,ENST00000648548.1","mutation identified in 1 NISBD1 family","?Inflammatory skin and bowel disease, neonatal, 1","614328","Autosomal recessive","3","Adam17"]
["2p23.3","2:26692721-26733419","KCNK3, TASK, PPH4","Potassium channel, subfamily K, member 3","603220","KCNK3","3777","ENSG00000171303,ENST00000302909.4",null,"Pulmonary hypertension, primary, 4","615344","Autosomal dominant","3","Kcnk3"]
["2p23.3","2:27309491-27323096","MPV17, MTDPS6, CMT2EE","Mitochondrial inner membrane protein MPV17","137960","MPV17","4358","ENSG00000115204,ENST00000380044.6",null,"Charcot-Marie-Tooth disease, axonal, type 2EE","618400","Autosomal recessive","3","Mpv17"]
["2p23.3","2:27309491-27323096","MPV17, MTDPS6, CMT2EE","Mitochondrial inner membrane protein MPV17","137960","MPV17","4358","ENSG00000115204,ENST00000380044.6",null,"Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)","256810","Autosomal recessive","3","Mpv17"]
["2p21","2:43831941-43882987","ABCG8, GBD4, STSL1","ATP-binding cassette, subfamily G, member 8","605460","ABCG8","64241","ENSG00000143921,ENST00000272286.4",null,"{Gallbladder disease 4}","611465",null,"3","Abcg8"]
["2p21","2:43831941-43882987","ABCG8, GBD4, STSL1","ATP-binding cassette, subfamily G, member 8","605460","ABCG8","64241","ENSG00000143921,ENST00000272286.4",null,"Sitosterolemia 1","210250","Autosomal recessive","3","Abcg8"]
["2p13","2:68400000-74800000","PARK3","Parkinson disease 3","602404",null,"5072",null,null,"{Parkinson disease 3}","602404",null,"2"]
["2p13.1","2:74529404-74533555","HTRA2, OMI, PARK13, PRSS25, MGCA8","HTRA serine peptidase 2","606441","HTRA2","27429","ENSG00000115317,ENST00000437202.1",null,"{Parkinson disease 13}","610297",null,"3","Htra2"]
["2p13.1","2:74529404-74533555","HTRA2, OMI, PARK13, PRSS25, MGCA8","HTRA serine peptidase 2","606441","HTRA2","27429","ENSG00000115317,ENST00000437202.1",null,"3-methylglutaconic aciduria, type VIII","617248","Autosomal recessive","3","Htra2"]
["2p11.2","2:85657306-85668740","SFTPB, SFTB3, SMDP1","Pulmonary surfactant-associated protein B, 18kD","178640","SFTPB","6439","ENSG00000168878,ENST00000519937.7",null,"Surfactant metabolism dysfunction, pulmonary, 1","265120","Autosomal recessive","3","Sftpb"]
["2q11-q12","2:93900000-108700000","CELIAC8","Celiac disease, susceptibility to, 8","612006",null,"100188870",null,"associated with rs917997 and rs13015714","{Celiac disease, susceptibility to, 8}","612006",null,"2"]
["2q","2:93900000-242193529","COPD","Pulmonary disease, chronic obstructive, severe early-onset","606963",null,"260431",null,"?SERPINE2","Pulmonary disease, chronic obstructive, severe early-onset","606963",null,"2"]
["2q11.2","2:97712029-97744326","ZAP70, SRK, ADMIO2, IMD48","Zeta-chain associated protein kinase, 70kD (syk-related tyrosine kinase)","176947","ZAP70","7535","ENSG00000115085,ENST00000264972.9",null,"Autoimmune disease, multisystem, infantile-onset, 2","617006","Autosomal recessive","3","Zap70"]
["2q11.2","2:97712029-97744326","ZAP70, SRK, ADMIO2, IMD48","Zeta-chain associated protein kinase, 70kD (syk-related tyrosine kinase)","176947","ZAP70","7535","ENSG00000115085,ENST00000264972.9",null,"Immunodeficiency 48","269840","Autosomal recessive","3","Zap70"]
["2q21.1-q22","2:129100000-147900000","CHDS2","Coronary heart disease, susceptibility to, 2","608316",null,"387584",null,null,"{Coronary heart disease, susceptibility to, 2}","608316",null,"2"]
["2q31.1","2:176116777-176119936","HOXD10, HOX4D","Homeo box-D10","142984","HOXD10","3236","ENSG00000128710,ENST00000249501.4",null,"Charcot-Marie-Tooth disease, foot deformity of","192950","Autosomal dominant","3","Hoxd10"]
["2q31.1","2:176116777-176119936","HOXD10, HOX4D","Homeo box-D10","142984","HOXD10","3236","ENSG00000128710,ENST00000249501.4",null,"Vertical talus, congenital","192950","Autosomal dominant","3","Hoxd10"]
["2q31.2","2:177623243-178108338","PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2","Phosphodiesterase 11A","604961","PDE11A","50940","ENSG00000128655,ENST00000389683.7",null,"Pigmented nodular adrenocortical disease, primary, 2","610475","Autosomal dominant","3","Pde11a"]
["2q32.2","2:190968988-191014196","STAT1, CANDF7, IMD31A, IMD31B, IMD31C","Signal transducer and activator of transcription-1","600555","STAT1","6772","ENSG00000115415,ENST00000673942.1",null,"Immunodeficiency 31A, mycobacteriosis, autosomal dominant","614892","Autosomal dominant","3","Stat1"]
["2q32.2","2:190968988-191014196","STAT1, CANDF7, IMD31A, IMD31B, IMD31C","Signal transducer and activator of transcription-1","600555","STAT1","6772","ENSG00000115415,ENST00000673942.1",null,"Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive","613796","Autosomal recessive","3","Stat1"]
["2q32.2","2:190968988-191014196","STAT1, CANDF7, IMD31A, IMD31B, IMD31C","Signal transducer and activator of transcription-1","600555","STAT1","6772","ENSG00000115415,ENST00000673942.1",null,"Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant","614162","Autosomal dominant","3","Stat1"]
["2q33.1","2:201233442-201287710","CASP8, MCH5, ALPS2B","Caspase 8, apoptosis-related cysteine protease","601763","CASP8","841","ENSG00000064012,ENST00000392263.6","mutation identified in 1 ALPS2B family","?Autoimmune lymphoproliferative syndrome, type IIB","607271","Autosomal recessive","3","Casp8"]
["2q33.1","2:201233442-201287710","CASP8, MCH5, ALPS2B","Caspase 8, apoptosis-related cysteine protease","601763","CASP8","841","ENSG00000064012,ENST00000392263.6","mutation identified in 1 ALPS2B family","{Breast cancer, protection against}","114480","Autosomal dominant; Somatic mutation","3","Casp8"]
["2q33.1","2:201233442-201287710","CASP8, MCH5, ALPS2B","Caspase 8, apoptosis-related cysteine protease","601763","CASP8","841","ENSG00000064012,ENST00000392263.6","mutation identified in 1 ALPS2B family","{Lung cancer, protection against}","211980","Autosomal dominant; Somatic mutation","3","Casp8"]
["2q33.1","2:201233442-201287710","CASP8, MCH5, ALPS2B","Caspase 8, apoptosis-related cysteine protease","601763","CASP8","841","ENSG00000064012,ENST00000392263.6","mutation identified in 1 ALPS2B family","Hepatocellular carcinoma, somatic","114550",null,"3","Casp8"]
["2q33.1-q33.2","2:202376309-202567750","BMPR2, PPH1, POVD1","Bone morphogenetic receptor, type II","600799","BMPR2","659","ENSG00000204217,ENST00000374580.10",null,"Pulmonary hypertension, familial primary, 1, with or without HHT","178600","Autosomal dominant","3","Bmpr2"]
["2q33.1-q33.2","2:202376309-202567750","BMPR2, PPH1, POVD1","Bone morphogenetic receptor, type II","600799","BMPR2","659","ENSG00000204217,ENST00000374580.10",null,"Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated","178600","Autosomal dominant","3","Bmpr2"]
["2q33.1-q33.2","2:202376309-202567750","BMPR2, PPH1, POVD1","Bone morphogenetic receptor, type II","600799","BMPR2","659","ENSG00000204217,ENST00000374580.10",null,"Pulmonary venoocclusive disease 1","265450","Autosomal dominant","3","Bmpr2"]
["2q33.2","2:203867770-203873964","CTLA4, IDDM12, CELIAC3, ALPS5","Cytotoxic T-lymphocyte-associated serine esterase-4","123890","CTLA4","1493","ENSG00000163599,ENST00000295854.10",null,"{Celiac disease, susceptibility to, 3}","609755",null,"3","Ctla4"]
["2q33.2","2:203867770-203873964","CTLA4, IDDM12, CELIAC3, ALPS5","Cytotoxic T-lymphocyte-associated serine esterase-4","123890","CTLA4","1493","ENSG00000163599,ENST00000295854.10",null,"{Diabetes mellitus, insulin-dependent, 12}","601388",null,"3","Ctla4"]
["2q33.2","2:203867770-203873964","CTLA4, IDDM12, CELIAC3, ALPS5","Cytotoxic T-lymphocyte-associated serine esterase-4","123890","CTLA4","1493","ENSG00000163599,ENST00000295854.10",null,"{Hashimoto thyroiditis}","140300","Autosomal dominant","3","Ctla4"]
["2q33.2","2:203867770-203873964","CTLA4, IDDM12, CELIAC3, ALPS5","Cytotoxic T-lymphocyte-associated serine esterase-4","123890","CTLA4","1493","ENSG00000163599,ENST00000295854.10",null,"{Systemic lupus erythematosus, susceptibility to}","152700","Autosomal dominant","3","Ctla4"]
["2q33.2","2:203867770-203873964","CTLA4, IDDM12, CELIAC3, ALPS5","Cytotoxic T-lymphocyte-associated serine esterase-4","123890","CTLA4","1493","ENSG00000163599,ENST00000295854.10",null,"Autoimmune lymphoproliferative syndrome, type V","616100","Autosomal dominant","3","Ctla4"]
["2q34","2:210477684-210679106","CPS1, PHN","Carbamoyl-phosphate synthetase 1, mitochondrial","608307","CPS1","1373","ENSG00000021826,ENST00000673711.1","urea cycle enzyme","{Pulmonary hypertension, neonatal, susceptibility to}","615371",null,"3","Cps1"]
["2q34","2:210477684-210679106","CPS1, PHN","Carbamoyl-phosphate synthetase 1, mitochondrial","608307","CPS1","1373","ENSG00000021826,ENST00000673711.1","urea cycle enzyme","Carbamoylphosphate synthetase I deficiency","237300","Autosomal recessive","3","Cps1"]
["2q36.1","2:222566898-222656091","FARSB, FARSLB, RILDBC1","Phenylalanine-tRNA synthetase-like, beta subunit","609690","FARSB","10056","ENSG00000116120,ENST00000281828.8",null,"Rajab interstitial lung disease with brain calcifications 1","613658","Autosomal recessive","3","Farsb"]
["2q36.3","2:226731311-226799819","IRS1","Insulin receptor substrate-1","147545","IRS1","3667","ENSG00000169047,ENST00000305123.5",null,"{Coronary artery disease, susceptibility to}",null,null,"3","Irs1"]
["2q36.3","2:226731311-226799819","IRS1","Insulin receptor substrate-1","147545","IRS1","3667","ENSG00000169047,ENST00000305123.5",null,"{Type 2 diabetes mellitus, susceptibility to}","125853","Autosomal dominant","3","Irs1"]
["2q37.1","2:230165185-230225728","SP110, IFI41, IFI75, VODI","SP110 nuclear body protein (interferon-induced protein 41, 30kD; interferon-induced protein 75, 52kD)","604457","SP110","3431","ENSG00000135899,ENST00000540870.5",null,"{Mycobacterium tuberculosis, susceptibility to}","607948",null,"3","Sp110,Gm15753,Gm16026"]
["2q37.1","2:230165185-230225728","SP110, IFI41, IFI75, VODI","SP110 nuclear body protein (interferon-induced protein 41, 30kD; interferon-induced protein 75, 52kD)","604457","SP110","3431","ENSG00000135899,ENST00000540870.5",null,"Hepatic venoocclusive disease with immunodeficiency","235550","Autosomal recessive","3","Sp110,Gm15753,Gm16026"]
["2q37.1","2:232697330-232860604","GIGYF2, KIAA0642, PARK11","GRB10-interacting GYF protein 2","612003","GIGYF2","26058","ENSG00000204120,ENST00000373563.8",null,"{Parkinson disease 11}","607688",null,"3","Gigyf2"]
["2q37.1","2:233251646-233295673","ATG16L1, APG16L, IBD10","Autophagy related 16 like 1","610767","ATG16L1","55054","ENSG00000085978,ENST00000392018.1",null,"{Inflammatory bowel disease (Crohn disease) 10}","611081",null,"3","Atg16l1"]
["2q37.1","2:233307815-233347065","SAG, RP47","S-antigen; retina and pineal gland (arrestin)","181031","SAG","6295","ENSG00000130561,ENST00000409110.6",null,"Oguchi disease-1","258100","Autosomal recessive","3","Sag"]
["2q37.1","2:233307815-233347065","SAG, RP47","S-antigen; retina and pineal gland (arrestin)","181031","SAG","6295","ENSG00000130561,ENST00000409110.6",null,"Retinitis pigmentosa 47","613758",null,"3","Sag"]
["2q37.3","2:241849880-241858907","PDCD1, SLEB2","Programmed cell death 1","600244","PDCD1","5133","ENSG00000188389,ENST00000334409.10",null,"{Multiple sclerosis, disease progression, modifier of}","126200","Multifactorial","3","Pdcd1"]
["2q37.3","2:241849880-241858907","PDCD1, SLEB2","Programmed cell death 1","600244","PDCD1","5133","ENSG00000188389,ENST00000334409.10",null,"{Systemic lupus erythematosus, susceptibility to, 2}","605218",null,"3","Pdcd1"]
["3p26",null,"IBD9","Inflammatory bowel disease 9","608448",null,"317669",null,null,"{Inflammatory bowel disease 9}","608448",null,"2"]
["3p26-p24.2",null,"MYMY1, MYMY","Moyamoya disease","252350",null,"50960",null,"max lod at D3S3050","Moyamoya disease","252350","Autosomal recessive","2"]
["3p25.3","3:8733801-8746757","CAV3, LQT9, MPDT, RMD2","Caveolin-3","601253","CAV3","859","ENSG00000182533,ENST00000397368.2","within 7-10kb of OXTR","Cardiomyopathy, familial hypertrophic","192600","Autosomal dominant; Digenic dominant","3","Cav3"]
["3p25.3","3:8733801-8746757","CAV3, LQT9, MPDT, RMD2","Caveolin-3","601253","CAV3","859","ENSG00000182533,ENST00000397368.2","within 7-10kb of OXTR","Creatine phosphokinase, elevated serum","123320","Autosomal dominant","3","Cav3"]
["3p25.3","3:8733801-8746757","CAV3, LQT9, MPDT, RMD2","Caveolin-3","601253","CAV3","859","ENSG00000182533,ENST00000397368.2","within 7-10kb of OXTR","Long QT syndrome 9","611818","Autosomal dominant","3","Cav3"]
["3p25.3","3:8733801-8746757","CAV3, LQT9, MPDT, RMD2","Caveolin-3","601253","CAV3","859","ENSG00000182533,ENST00000397368.2","within 7-10kb of OXTR","Myopathy, distal, Tateyama type","614321","Autosomal dominant","3","Cav3"]
["3p25.3","3:8733801-8746757","CAV3, LQT9, MPDT, RMD2","Caveolin-3","601253","CAV3","859","ENSG00000182533,ENST00000397368.2","within 7-10kb of OXTR","Rippling muscle disease 2","606072","Autosomal dominant","3","Cav3"]
["3p24.3","3:20160592-20188142","SGOL1, SGO, SGO1, CAID","Shugoshin-like 1","609168","SGO1","151648","ENSG00000129810,ENST00000263753.8",null,"Chronic atrial and intestinal dysrhythmia","616201","Autosomal recessive","3","Sgo1"]
["3p23-p21","3:30800000-54400000","SCLC1","Small-cell cancer of lung","182280",null,"7864",null,"centromeric to ERBA2","Small-cell cancer of lung","182280","Autosomal dominant","2"]
["3p22.2","3:38038594-38124024","DLEC1, DLC1","Deleted in lung and esophageal cancer 1","604050","DLEC1","9940","ENSG00000008226,ENST00000308059.11",{"$nulls":4},"Dlec1"]
["3p22.2","3:39263493-39281734","CX3CR1, GPR13, V28","Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13)","601470","CX3CR1","1524","ENSG00000168329,ENST00000541347.5",null,"{Coronary artery disease, resistance to}","607339",null,"3","Cx3cr1"]
["3p22.2","3:39263493-39281734","CX3CR1, GPR13, V28","Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13)","601470","CX3CR1","1524","ENSG00000168329,ENST00000541347.5",null,"{Macular degeneration, age-related, 12}","613784",null,"3","Cx3cr1"]
["3p22.2","3:39263493-39281734","CX3CR1, GPR13, V28","Chemokine (C-X3-C) receptor 1 (G protein-coupled receptor-13)","601470","CX3CR1","1524","ENSG00000168329,ENST00000541347.5",null,"{Rapid progression to AIDS from HIV1 infection}","609423",null,"3","Cx3cr1"]
["3p21","3:43600000-54400000","CELIAC9","Celiac disease, susceptibility to, 9","612007",null,"100188871",null,"associated with rs6441961","{Celiac disease, susceptibility to, 9}","612007",null,"2"]
["3p21","3:43600000-54400000","HSCR6","Hirschsprung disease, susceptibility to, 6","606874",null,"246321",null,null,"{Hirschsprung disease, susceptibility to, 6}","606874",null,"2"]
["3p21.3","3:43600000-50600000","IBD12","Inflammatory bowel disease 12","612241",null,"100188952",null,null,"{Inflammatory bowel disease 12}","612241",null,"2"]
["3p12.2","3:81489702-81761644","GBE1, GSD4, APBD","Glycogen branching enzyme","607839","GBE1","2632","ENSG00000114480,ENST00000429644.7",null,"Glycogen storage disease IV","232500","Autosomal recessive","3","Gbe1"]
["3p12.2","3:81489702-81761644","GBE1, GSD4, APBD","Glycogen branching enzyme","607839","GBE1","2632","ENSG00000114480,ENST00000429644.7",null,"Polyglucosan body disease, adult form","263570","Autosomal recessive","3","Gbe1"]
["3q13","3:103100000-122200000","CHDS5","Coronary heart disease, susceptibility to, 5","608901",{"$nulls":4},"{Coronary heart disease, susceptibility to, 5}","608901",null,"2"]
["3q13.33","3:119468954-119494707","POGLUT1, CLP46, KTELC1, RUMI, C3orf9, DDD4, LGMDR21","Protein O-glucosyltransferase 1","615618","POGLUT1","56983","ENSG00000163389,ENST00000295588.9","mutation identified in 1 LGMDR21 family","?Muscular dystrophy, limb-girdle, autosomal recessive 21","617232","Autosomal recessive","3","Poglut1"]
["3q13.33","3:119468954-119494707","POGLUT1, CLP46, KTELC1, RUMI, C3orf9, DDD4, LGMDR21","Protein O-glucosyltransferase 1","615618","POGLUT1","56983","ENSG00000163389,ENST00000295588.9","mutation identified in 1 LGMDR21 family","Dowling-Degos disease 4","615696","Autosomal dominant","3","Poglut1"]
["3q21.3","3:128052436-128071682","SEC61A1, SEC61, ADTKD5","SEC61 translocon, alpha-1 subunit","609213","SEC61A1","29927","ENSG00000058262,ENST00000243253.8",null,"Tubulointerstitial kidney disease, autosomal dominant, 5","617056","Autosomal dominant","3","Sec61a1"]
["3q21.3","3:128726182-128814797","RAB7, CMT2B, PSN","Ras-associated protein RAB7","602298","RAB7A","7879","ENSG00000075785,ENST00000265062.8",null,"Charcot-Marie-Tooth disease, type 2B","600882","Autosomal dominant","3","Rab7"]
["3q22-q24","3:129500000-149200000","AD15","Alzheimer disease 15","611155",{"$nulls":3},"max lod at D3S1579","{Alzheimer disease-15}","611155",null,"2"]
["3q22","3:129500000-139000000","PARK21","Parkinson disease 21","616361",null,"108353827",null,"conflicting mapping on 20pter-p12","Parkinson disease 21","616361","Autosomal dominant","2"]
["3q22.1","3:130850594-131016711","ATP2C1, BCPM, HHD","ATPase, Ca(2+)-sequestering","604384","ATP2C1","27032","ENSG00000017260,ENST00000533801.6",null,"Hailey-Hailey disease","169600","Autosomal dominant","3","Atp2c1"]
["3q22.3","3:138061989-138115861","DZIP1L, DZIP2, PKD5","DAZ-interacting zinc finger protein 1-like","617570","DZIP1L","199221","ENSG00000158163,ENST00000469243.5",null,"Polycystic kidney disease 5","617610","Autosomal recessive","3","Dzip1l"]
["3q24","3:148991514-149031774","GYG1, GSD15","Glycogenin 1","603942","GYG1","2992","ENSG00000163754,ENST00000296048.10","mutation identified in 1 GSD15 patient","?Glycogen storage disease XV","613507","Autosomal recessive","3","Gyg"]
["3q24","3:148991514-149031774","GYG1, GSD15","Glycogenin 1","603942","GYG1","2992","ENSG00000163754,ENST00000296048.10","mutation identified in 1 GSD15 patient","Polyglucosan body myopathy 2","616199","Autosomal recessive","3","Gyg"]
["3q25-q26","3:149200000-183000000","CELIAC10","Celiac disease, susceptibility to, 10","612008",null,"100188872",null,"associated with rs17810546","{Celiac disease, susceptibility to, 10}","612008",null,"2"]
["3q25.2","3:155024201-155183728","MME, CD10, CALLA, NEP, CMT2T, SCA43","Membrane metallo-endopeptidase (common acute lymphocytic leukemia antigen)","120520","MME","4311","ENSG00000196549,ENST00000460393.5","mutation identified in 1 SCA43 family","?Spinocerebellar ataxia 43","617018","Autosomal dominant","3","Mme"]
["3q25.2","3:155024201-155183728","MME, CD10, CALLA, NEP, CMT2T, SCA43","Membrane metallo-endopeptidase (common acute lymphocytic leukemia antigen)","120520","MME","4311","ENSG00000196549,ENST00000460393.5","mutation identified in 1 SCA43 family","Charcot-Marie-Tooth disease, axonal, type 2T","617017","Autosomal dominant; Autosomal recessive","3","Mme"]
["3q26.2","3:169764609-169765059","TERC, TRC3, TR, DKCA1, PFBMFT2","Telomerase RNA component","602322","TERC","7012","ENSG00000277925,ENST00000363312.1",null,"{Aplastic anemia}","614743","Autosomal dominant","3"]
["3q26.2","3:169764609-169765059","TERC, TRC3, TR, DKCA1, PFBMFT2","Telomerase RNA component","602322","TERC","7012","ENSG00000277925,ENST00000363312.1",null,"{Pulmonary fibrosis, idiopathic, susceptibility to}","614743","Autosomal dominant","3"]
["3q26.2","3:169764609-169765059","TERC, TRC3, TR, DKCA1, PFBMFT2","Telomerase RNA component","602322","TERC","7012","ENSG00000277925,ENST00000363312.1",null,"Dyskeratosis congenita, autosomal dominant 1","127550","Autosomal dominant","3"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"Breast cancer, somatic","114480",null,"3","Pik3ca"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"CLAPO syndrome, somatic","613089",null,"3","Pik3ca"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"CLOVE syndrome, somatic","612918",null,"3","Pik3ca"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"Colorectal cancer, somatic","114500",null,"3","Pik3ca"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"Cowden syndrome 5","615108",null,"3","Pik3ca"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"Gastric cancer, somatic","613659",null,"3","Pik3ca"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"Hepatocellular carcinoma, somatic","114550",null,"3","Pik3ca"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"Keratosis, seborrheic, somatic","182000",null,"3","Pik3ca"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"Macrodactyly, somatic","155500",null,"3","Pik3ca"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic","602501",null,"3","Pik3ca"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"Nevus, epidermal, somatic","162900",null,"3","Pik3ca"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"Nonsmall cell lung cancer, somatic","211980",null,"3","Pik3ca"]
["3q26.32","3:179148113-179240092","PIK3CA, CLOVE, MCAP, MCM, MCMTC, CWS5, CLAPO","Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide","171834","PIK3CA","5290","ENSG00000121879,ENST00000263967.4",null,"Ovarian cancer, somatic","167000",null,"3","Pik3ca"]
["3q26.33","3:179396087-179451469","GNB4, CMTD1F","Guanine nucleotide-binding protein, beta-4","610863","GNB4","59345","ENSG00000114450,ENST00000232564.8",null,"Charcot-Marie-Tooth disease, dominant intermediate F","615185","Autosomal dominant","3","Gnb4"]
["3q27.1","3:184314605-184335357","EIF4G1, EIF4G, PARK18","Eukaryotic translation initiation factor 4 gamma, 1","600495","EIF4G1","1981","ENSG00000114867,ENST00000382330.7","amplified in squamous cell lung cancer","{Parkinson disease 18}","614251","Autosomal dominant","3","Eif4g1"]
["3q27.3","3:186570719-186585792","DNAJB11, HEDJ, DJ9, ABBP2, PKD6","DNAJ/HSP40 homolog, subfamily B, member 11","611341","DNAJB11","51726","ENSG00000090520,ENST00000265028.7",null,"Polycystic kidney disease 6 with or without polycystic liver disease","618061","Autosomal dominant","3","Dnajb11"]
["3q28","3:188200000-192600000","CELIAC11","Celiac disease, susceptibility to, 11","612009",null,"100188873",null,"associated with rs1464510","{Celiac disease, susceptibility to, 11}","612009",null,"2"]
["3q28","3:188200000-192600000","LNCR5","Lung cancer susceptibility 5","614210",null,"100682395",null,"associated with rs4488809","{Lung cancer susceptibility 5}","614210",null,"2"]
["4p16.3","4:3074680-3243959","HTT, HD, IT15, LOMARS","Huntingtin","613004","HTT","3064","ENSG00000197386,ENST00000680956.1","distal to D4S10","Huntington disease","143100","Autosomal dominant","3","Htt"]
["4p16.3","4:3074680-3243959","HTT, HD, IT15, LOMARS","Huntingtin","613004","HTT","3064","ENSG00000197386,ENST00000680956.1","distal to D4S10","Lopes-Maciel-Rodan syndrome","617435","Autosomal recessive","3","Htt"]
["4p15.3","4:11300000-21300000","HDL3, HLN2","Huntington disease-like 3","604802",null,"53369",null,null,"Huntington disease-like 3","604802","Autosomal recessive","2"]
["4p15.32","4:15968225-16084058","PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4","Prominin 1","604365","PROM1","8842","ENSG00000007062,ENST00000508167.5",null,"Cone-rod dystrophy 12","612657","Autosomal dominant; Autosomal recessive","3","Prom1"]
["4p15.32","4:15968225-16084058","PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4","Prominin 1","604365","PROM1","8842","ENSG00000007062,ENST00000508167.5",null,"Macular dystrophy, retinal, 2","608051","Autosomal dominant","3","Prom1"]
["4p15.32","4:15968225-16084058","PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4","Prominin 1","604365","PROM1","8842","ENSG00000007062,ENST00000508167.5",null,"Retinitis pigmentosa 41","612095","Autosomal recessive","3","Prom1"]
["4p15.32","4:15968225-16084058","PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4","Prominin 1","604365","PROM1","8842","ENSG00000007062,ENST00000508167.5",null,"Stargardt disease 4","603786","Autosomal dominant","3","Prom1"]
["4p15.2","4:25655850-25678747","SLC34A2, PULAM","Solute carrier family 34 (sodium/phosphate cotransporter), member 2","604217","SLC34A2","10568","ENSG00000157765,ENST00000504570.5",null,"Pulmonary alveolar microlithiasis","265100","Autosomal recessive","3","Slc34a2"]
["4p13","4:41256927-41268454","UCHL1, PARK5, SPG79, NDGOA","Ubiquitin C-terminal esterase L1","191342","UCHL1","7345","ENSG00000154277,ENST00000284440.9","mutation identified in 1 PARK5 family","{?Parkinson disease 5, susceptibility to}","613643","Autosomal dominant","3","Uchl1"]
["4p13","4:41256927-41268454","UCHL1, PARK5, SPG79, NDGOA","Ubiquitin C-terminal esterase L1","191342","UCHL1","7345","ENSG00000154277,ENST00000284440.9","mutation identified in 1 PARK5 family","Spastic paraplegia 79, autosomal recessive","615491","Autosomal recessive","3","Uchl1"]
["4p13","4:41744081-41748724","PHOX2B, NBPHOX, PMX2B, NBLST2, CCHS","Paired mesoderm homeo box 2B","603851","PHOX2B","8929","ENSG00000109132,ENST00000226382.4",null,"{Neuroblastoma, susceptibility to, 2}","613013",null,"3","Phox2b"]
["4p13","4:41744081-41748724","PHOX2B, NBPHOX, PMX2B, NBLST2, CCHS","Paired mesoderm homeo box 2B","603851","PHOX2B","8929","ENSG00000109132,ENST00000226382.4",null,"Central hypoventilation syndrome, congenital, with or without Hirschsprung disease","209880","Autosomal dominant","3","Phox2b"]
["4p13","4:41744081-41748724","PHOX2B, NBPHOX, PMX2B, NBLST2, CCHS","Paired mesoderm homeo box 2B","603851","PHOX2B","8929","ENSG00000109132,ENST00000226382.4",null,"Neuroblastoma with Hirschsprung disease","613013",null,"3","Phox2b"]
["4q12","4:51800000-58500000","TAPVR1","Total anomalous pulmonary venous return 1","106700",null,"6893",null,"between D4S1630 and D4S3019; ?mutation in KDR","Total anomalous pulmonary venous return","106700","Autosomal dominant","2"]
["4q12","4:57030772-57110384","IGFBP7, MAC25, RAMSVPS","Insulin-like growth factor-binding protein-7","602867","IGFBP7","3490","ENSG00000163453,ENST00000514062.2",null,"Retinal arterial macroaneurysm with supravalvular pulmonic stenosis","614224","Autosomal recessive","3","Igfbp7"]
["4q13-q21","4:58500000-87100000","AIS4, VAMAS5","Autoimmune disease, susceptibility to, 4","609400",null,"619405",null,"between D4S392 and D4S3042","{Autoimmune disease, susceptibility to, 4}","609400",null,"2"]
["4q22.1","4:88007634-88077778","PKD2","Polycystin-2","173910","PKD2","5311","ENSG00000118762,ENST00000237596.7",null,"Polycystic kidney disease 2","613095","Autosomal dominant","3","Pkd2"]
["4q22.1","4:88257616-88284669","PPM1K, PP2CM, PTMP, MSUDMV","Protein phosphatase, PP2C domain-containing, 1K","611065","PPM1K","152926","ENSG00000163644,ENST00000608933.6","mutation identified in 1 MSUDMV family","?Maple syrup urine disease, mild variant","615135",null,"3","Ppm1k"]
["4q22.1","4:89724098-89838323","SNCA, NACP, PARK1, PARK4","Synuclein, alpha (non A4 component of amyloid precursor)","163890","SNCA","6622","ENSG00000145335,ENST00000394991.7",null,"Dementia, Lewy body","127750","Autosomal dominant","3","Snca"]
["4q22.1","4:89724098-89838323","SNCA, NACP, PARK1, PARK4","Synuclein, alpha (non A4 component of amyloid precursor)","163890","SNCA","6622","ENSG00000145335,ENST00000394991.7",null,"Parkinson disease 1","168601","Autosomal dominant","3","Snca"]
["4q22.1","4:89724098-89838323","SNCA, NACP, PARK1, PARK4","Synuclein, alpha (non A4 component of amyloid precursor)","163890","SNCA","6622","ENSG00000145335,ENST00000394991.7",null,"Parkinson disease 4","605543","Autosomal dominant","3","Snca"]
["4q23","4:99336496-99352745","ADH1C, ADH3","Alcohol dehydrogenase IC (class I), gamma polypeptide","103730","ADH1C","126","ENSG00000248144,ENST00000515683.6",null,"{Alcohol dependence, protection against}","103780","Multifactorial","3","Adh1"]
["4q23","4:99336496-99352745","ADH1C, ADH3","Alcohol dehydrogenase IC (class I), gamma polypeptide","103730","ADH1C","126","ENSG00000248144,ENST00000515683.6",null,"{Parkinson disease, susceptibility to}","168600","Autosomal dominant; Multifactorial","3","Adh1"]
["4q27","4:119900000-122800000","CELIAC6, AIS5","Celiac disease, susceptibility to, 6","611598",null,"100188846",null,null,"{Autoimmune disease, susceptibility to, 5}","611598",null,"2"]
["4q27","4:119900000-122800000","CELIAC6, AIS5","Celiac disease, susceptibility to, 6","611598",null,"100188846",null,null,"{Celiac disease, susceptibility to, 6}","611598",null,"2"]
["4q31.3-q32.3","4:150200000-169200000","HSCR9","Hirschsprung disease, susceptibility to, 9","611644",null,"100188850",null,"between D4S3049 and D4S1566","{Hirschsprung disease, susceptibility to, 9}","611644",null,"2"]
["4q31.3","4:153152162-153339316","TRIM2, KIAA0517, CMT2R","Tripartite motif-containing protein 2","614141","TRIM2","23321","ENSG00000109654,ENST00000437508.6",null,"Charcot-Marie-Tooth disease, type 2R","615490","Autosomal recessive","3","Trim2"]
["5p15.33",null,"LNCR3","Lung cancer susceptibility 3","612571",null,"100271687",null,"associated with rs402710 and rs2736100","{Lung cancer susceptibility 3}","612571",null,"2"]
["5p15.33","5:1253166-1295067","TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9","Telomerase reverse transcriptase","187270","TERT","7015","ENSG00000164362,ENST00000334602.10","deleted in cri du chat","{Dyskeratosis congenita, autosomal dominant 2}","613989","Autosomal dominant; Autosomal recessive","3","Tert"]
["5p15.33","5:1253166-1295067","TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9","Telomerase reverse transcriptase","187270","TERT","7015","ENSG00000164362,ENST00000334602.10","deleted in cri du chat","{Dyskeratosis congenita, autosomal recessive 4}","613989","Autosomal dominant; Autosomal recessive","3","Tert"]
["5p15.33","5:1253166-1295067","TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9","Telomerase reverse transcriptase","187270","TERT","7015","ENSG00000164362,ENST00000334602.10","deleted in cri du chat","{Leukemia, acute myeloid}","601626","Autosomal dominant; Somatic mutation","3","Tert"]
["5p15.33","5:1253166-1295067","TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9","Telomerase reverse transcriptase","187270","TERT","7015","ENSG00000164362,ENST00000334602.10","deleted in cri du chat","{Melanoma, cutaneous malignant, 9}","615134",null,"3","Tert"]
["5p15.33","5:1253166-1295067","TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9","Telomerase reverse transcriptase","187270","TERT","7015","ENSG00000164362,ENST00000334602.10","deleted in cri du chat","{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}","614742","Autosomal dominant","3","Tert"]
["5p13.2","5:37812676-37840043","GDNF, HSCR3","Glial cell line derived neurotrophic factor","600837","GDNF","2668","ENSG00000168621,ENST00000326524.7",null,"{Hirschsprung disease, susceptibility to, 3}","613711","Autosomal dominant","3","Gdnf"]
["5p13.2","5:37812676-37840043","GDNF, HSCR3","Glial cell line derived neurotrophic factor","600837","GDNF","2668","ENSG00000168621,ENST00000326524.7",null,"{Pheochromocytoma, modifier of}","171300","Autosomal dominant","3","Gdnf"]
["5p13.2","5:37812676-37840043","GDNF, HSCR3","Glial cell line derived neurotrophic factor","600837","GDNF","2668","ENSG00000168621,ENST00000326524.7",null,"Central hypoventilation syndrome","209880","Autosomal dominant","3","Gdnf"]
["5p13.1","5:38400000-42500000","IBD18","Inflammatory bowel disease 18","612262",null,"100190931",null,"associated with rs1373692","{Inflammatory bowel disease 18}","612262",null,"2"]
["5q13.3","5:74640022-74721287","HEXB","Hexosaminidase B, beta polypeptide","606873","HEXB","3074","ENSG00000049860,ENST00000261416.12",null,"Sandhoff disease, infantile, juvenile, and adult forms","268800","Autosomal recessive","3","Hexb"]
["5q13.3","5:77180303-77428255","PDE8B, PPNAD3, ADSD","Phosphodiesterase 8B","603390","PDE8B","8622","ENSG00000113231,ENST00000346042.7",null,"Pigmented nodular adrenocortical disease, primary, 3","614190",null,"3","Pde8b"]
["5q13.3","5:77180303-77428255","PDE8B, PPNAD3, ADSD","Phosphodiesterase 8B","603390","PDE8B","8622","ENSG00000113231,ENST00000346042.7",null,"Striatal degeneration, autosomal dominant","609161","Autosomal dominant","3","Pde8b"]
["5q14.3","5:91302985-91314401","LUCAT1, SCAL1","Lung cancer-associated transcript 1, noncoding","618190","LUCAT1","100505994","ENSG00000248323,ENST00000511918.6"]
["5q22.2","5:112707497-112846238","APC, GS, FPC, BTPS2, DESMD","APC regulator of WNT signaling pathway","611731","APC","324","ENSG00000134982,ENST00000257430.9","150kb distal to MCC","Adenoma, periampullary, somatic","175100",null,"3","Apc"]
["5q22.2","5:112707497-112846238","APC, GS, FPC, BTPS2, DESMD","APC regulator of WNT signaling pathway","611731","APC","324","ENSG00000134982,ENST00000257430.9","150kb distal to MCC","Adenomatous polyposis coli","175100","Autosomal dominant","3","Apc"]
["5q22.2","5:112707497-112846238","APC, GS, FPC, BTPS2, DESMD","APC regulator of WNT signaling pathway","611731","APC","324","ENSG00000134982,ENST00000257430.9","150kb distal to MCC","Brain tumor-polyposis syndrome 2","175100","Autosomal dominant","3","Apc"]
["5q22.2","5:112707497-112846238","APC, GS, FPC, BTPS2, DESMD","APC regulator of WNT signaling pathway","611731","APC","324","ENSG00000134982,ENST00000257430.9","150kb distal to MCC","Colorectal cancer, somatic","114500",null,"3","Apc"]
["5q22.2","5:112707497-112846238","APC, GS, FPC, BTPS2, DESMD","APC regulator of WNT signaling pathway","611731","APC","324","ENSG00000134982,ENST00000257430.9","150kb distal to MCC","Desmoid disease, hereditary","135290","Autosomal dominant","3","Apc"]
["5q22.2","5:112707497-112846238","APC, GS, FPC, BTPS2, DESMD","APC regulator of WNT signaling pathway","611731","APC","324","ENSG00000134982,ENST00000257430.9","150kb distal to MCC","Gardner syndrome","175100","Autosomal dominant","3","Apc"]
["5q22.2","5:112707497-112846238","APC, GS, FPC, BTPS2, DESMD","APC regulator of WNT signaling pathway","611731","APC","324","ENSG00000134982,ENST00000257430.9","150kb distal to MCC","Gastric adenocarcinoma and proximal polyposis of the stomach","619182","Autosomal dominant","3","Apc"]
["5q22.2","5:112707497-112846238","APC, GS, FPC, BTPS2, DESMD","APC regulator of WNT signaling pathway","611731","APC","324","ENSG00000134982,ENST00000257430.9","150kb distal to MCC","Gastric cancer, somatic","613659",null,"3","Apc"]
["5q22.2","5:112707497-112846238","APC, GS, FPC, BTPS2, DESMD","APC regulator of WNT signaling pathway","611731","APC","324","ENSG00000134982,ENST00000257430.9","150kb distal to MCC","Hepatoblastoma, somatic","114550",null,"3","Apc"]
["5q31-q33","5:131200000-160500000","AITD2","Autoimmune thyroid disease, susceptibility to, 2","608174",null,"387579",null,null,"{Autoimmune thyroid disease, susceptibility to, 2}","608174",null,"2"]
["5q31-q33","5:131200000-160500000","CELIAC2","Celiac disease, susceptibility to, 2","609754",null,"317782",null,null,"{Celiac disease, susceptibility to, 2}","609754",null,"2"]
["5q31","5:131200000-145100000","IBD5","Inflammatory bowel disease 5","606348",null,"50941",null,null,"{Inflammatory bowel disease 5}","606348",null,"2"]
["5q31","5:131200000-145100000","PDB4","Paget disease of bone 4","606263",null,"94003",null,null,"Paget disease of bone 4","606263","Autosomal dominant","2"]
["5q31.1","5:132481608-132490788","IRF1, MAR","Interferon regulatory factor-1","147575","IRF1","3659","ENSG00000125347,ENST00000680903.1",null,"Gastric cancer, somatic","613659",null,"3","Irf1"]
["5q31.1","5:132481608-132490788","IRF1, MAR","Interferon regulatory factor-1","147575","IRF1","3659","ENSG00000125347,ENST00000680903.1",null,"Myelodysplastic syndrome, preleukemic",null,null,"3","Irf1"]
["5q31.1","5:132481608-132490788","IRF1, MAR","Interferon regulatory factor-1","147575","IRF1","3659","ENSG00000125347,ENST00000680903.1",null,"Myelogenous leukemia, acute",null,null,"3","Irf1"]
["5q31.1","5:132481608-132490788","IRF1, MAR","Interferon regulatory factor-1","147575","IRF1","3659","ENSG00000125347,ENST00000680903.1",null,"Nonsmall cell lung cancer, somatic","211980",null,"3","Irf1"]
["5q31.1","5:134601148-134632827","SAR1B, CMRD, SARA2, ANDD","Sar1a, S. cerevisiae, homolog 2","607690","SAR1B","51128","ENSG00000152700,ENST00000439578.5",null,"Chylomicron retention disease","246700","Autosomal recessive","3","Sar1b"]
["5q31.3","5:140673904-140691369","HARS1, HARS, USH3B, CMT2W","Histidyl-tRNA synthetase 1","142810","HARS1","3035","ENSG00000170445,ENST00000438307.6",null,"Charcot-Marie-Tooth disease, axonal, type 2W","616625","Autosomal dominant","3","Hars"]
["5q31.3","5:140673904-140691369","HARS1, HARS, USH3B, CMT2W","Histidyl-tRNA synthetase 1","142810","HARS1","3035","ENSG00000170445,ENST00000438307.6",null,"Usher syndrome type 3B","614504","Autosomal recessive","3","Hars"]
["5q32","5:148982149-149063061","SH3TC2, KIAA1985, MNMN","SH3 domain and tetratricopeptide repeat domain 2","608206","SH3TC2","79628","ENSG00000169247,ENST00000515425.6",null,"Charcot-Marie-Tooth disease, type 4C","601596","Autosomal recessive","3","Sh3tc2"]
["5q32","5:148982149-149063061","SH3TC2, KIAA1985, MNMN","SH3 domain and tetratricopeptide repeat domain 2","608206","SH3TC2","79628","ENSG00000169247,ENST00000515425.6",null,"Mononeuropathy of the median nerve, mild","613353","Autosomal dominant","3","Sh3tc2"]
["5q32","5:150113838-150155844","PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS","Platelet-derived growth factor receptor, beta polypeptide","173410","PDGFRB","5159","ENSG00000113721,ENST00000261799.9","fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders","Basal ganglia calcification, idiopathic, 4","615007","Autosomal dominant","3","Pdgfrb"]
["5q32","5:150113838-150155844","PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS","Platelet-derived growth factor receptor, beta polypeptide","173410","PDGFRB","5159","ENSG00000113721,ENST00000261799.9","fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders","Kosaki overgrowth syndrome","616592","Autosomal dominant","3","Pdgfrb"]
["5q32","5:150113838-150155844","PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS","Platelet-derived growth factor receptor, beta polypeptide","173410","PDGFRB","5159","ENSG00000113721,ENST00000261799.9","fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders","Myeloproliferative disorder with eosinophilia","131440","Autosomal dominant","4","Pdgfrb"]
["5q32","5:150113838-150155844","PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS","Platelet-derived growth factor receptor, beta polypeptide","173410","PDGFRB","5159","ENSG00000113721,ENST00000261799.9","fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders","Myofibromatosis, infantile, 1","228550","Autosomal dominant","3","Pdgfrb"]
["5q32","5:150113838-150155844","PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS","Platelet-derived growth factor receptor, beta polypeptide","173410","PDGFRB","5159","ENSG00000113721,ENST00000261799.9","fusion gene with ETV6, HIP1, RABPT5, or H4 in chronic myeloproliferative disorders","Premature aging syndrome, Penttinen type","601812","Autosomal dominant","3","Pdgfrb"]
["5q33.1","5:150846520-150902401","IRGM, LRG47, IFI1, IBD19","Immunity-related GTPase family, M","608212","IRGM","345611","ENSG00000237693,ENST00000522154.1",null,"{Inflammatory bowel disease (Crohn disease) 19}","612278",null,"3","Irgm2"]
["5q33.1","5:150846520-150902401","IRGM, LRG47, IFI1, IBD19","Immunity-related GTPase family, M","608212","IRGM","345611","ENSG00000237693,ENST00000522154.1",null,"{Mycobacterium tuberculosis, protection against}","607948",null,"3","Irgm2"]
["5q35.3","5:179806392-179838077","SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV","Sequestosome 1","601530","SQSTM1","8878","ENSG00000161011,ENST00000360718.5",null,"Frontotemporal dementia and/or amyotrophic lateral sclerosis 3","616437","Autosomal dominant","3","Sqstm1"]
["5q35.3","5:179806392-179838077","SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV","Sequestosome 1","601530","SQSTM1","8878","ENSG00000161011,ENST00000360718.5",null,"Myopathy, distal, with rimmed vacuoles","617158","Autosomal dominant","3","Sqstm1"]
["5q35.3","5:179806392-179838077","SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV","Sequestosome 1","601530","SQSTM1","8878","ENSG00000161011,ENST00000360718.5",null,"Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset","617145","Autosomal recessive","3","Sqstm1"]
["5q35.3","5:179806392-179838077","SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV","Sequestosome 1","601530","SQSTM1","8878","ENSG00000161011,ENST00000360718.5",null,"Paget disease of bone 3","167250","Autosomal dominant","3","Sqstm1"]
["6p25",null,"CLLS4","Leukemia, chronic lymphocytic susceptibility to, 4","612558",null,"100270643",null,"associated with rs872071","{Leukemia, chronic lymphocytic susceptibility to, 4}","612558",null,"2"]
["6p22.2","6:26087346-26098342","HFE, HLA-H, HFE1, MVCD7, TFQTL2","Homeostatic iron regulator","613609","HFE","3077","ENSG00000010704,ENST00000357618.9",null,"[Transferrin serum level QTL2]","614193",null,"3","Hfe"]
["6p22.2","6:26087346-26098342","HFE, HLA-H, HFE1, MVCD7, TFQTL2","Homeostatic iron regulator","613609","HFE","3077","ENSG00000010704,ENST00000357618.9",null,"{Alzheimer disease, susceptibility to}","104300","Autosomal dominant","3","Hfe"]
["6p22.2","6:26087346-26098342","HFE, HLA-H, HFE1, MVCD7, TFQTL2","Homeostatic iron regulator","613609","HFE","3077","ENSG00000010704,ENST00000357618.9",null,"{Microvascular complications of diabetes 7}","612635",null,"3","Hfe"]
["6p22.2","6:26087346-26098342","HFE, HLA-H, HFE1, MVCD7, TFQTL2","Homeostatic iron regulator","613609","HFE","3077","ENSG00000010704,ENST00000357618.9",null,"{Porphyria cutanea tarda, susceptibility to}","176100","Autosomal dominant; Autosomal recessive","3","Hfe"]
["6p22.2","6:26087346-26098342","HFE, HLA-H, HFE1, MVCD7, TFQTL2","Homeostatic iron regulator","613609","HFE","3077","ENSG00000010704,ENST00000357618.9",null,"{Porphyria variegata, susceptibility to}","176200","Autosomal dominant","3","Hfe"]
["6p22.2","6:26087346-26098342","HFE, HLA-H, HFE1, MVCD7, TFQTL2","Homeostatic iron regulator","613609","HFE","3077","ENSG00000010704,ENST00000357618.9",null,"Hemochromatosis","235200","Autosomal recessive","3","Hfe"]
["6p21.3","6:30500000-36600000","CTEPH1","Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to","612862",null,"100302516",null,"associated with DPB1*0202","{Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to}","612862",null,"2"]
["6p21.3","6:30500000-36600000","IBD3","Inflammatory bowel disease 3","604519",null,"30829",null,null,"{Inflammatory bowel disease 3}","604519","Autosomal dominant","2"]
["6p21.33","6:30500000-32100000","LNCR4","Lung cancer susceptibility 4","612593",null,"100271693",null,"associated with rs3117582 and rs3131379","{Lung cancer susceptibility 4}","612593",null,"2"]
["6p21.3","6:30500000-36600000","VAMAS6","Vitiligo-associated multiple autoimmune disease susceptibility 6","193200",null,"246319",null,"possible second locus on 1p31.3-p32.2","{Vitiligo-associated multiple autoimmune disease susceptibility 6}","193200","Autosomal recessive","2"]
["6p21.33","6:30653126-30673005","DHX16, DDX16, DBP2, PRP8, NMOAS","DEAH-box helicase 16","603405","DHX16","8449","ENSG00000204560,ENST00000376437.9",null,"Neuromuscular disease and ocular or auditory anomalies with or without seizures","618733","Autosomal dominant","3","Dhx16"]
["6p21.33","6:31353874-31357178","HLA-B, SPDA1","Major histocompatibility complex, class I, B","142830","HLA-B","3106","ENSG00000234745,ENST00000412585.7",null,"{Abacavir hypersensitivity, susceptibility to}",null,null,"3"]
["6p21.33","6:31353874-31357178","HLA-B, SPDA1","Major histocompatibility complex, class I, B","142830","HLA-B","3106","ENSG00000234745,ENST00000412585.7",null,"{Drug-induced liver injury due to flucloxacillin}",null,null,"3"]
["6p21.33","6:31353874-31357178","HLA-B, SPDA1","Major histocompatibility complex, class I, B","142830","HLA-B","3106","ENSG00000234745,ENST00000412585.7",null,"{Spondyloarthropathy, susceptibility to, 1}","106300","Multifactorial","3"]
["6p21.33","6:31353874-31357178","HLA-B, SPDA1","Major histocompatibility complex, class I, B","142830","HLA-B","3106","ENSG00000234745,ENST00000412585.7",null,"{Stevens-Johnson syndrome, susceptibility to}","608579",null,"3"]
["6p21.33","6:31353874-31357178","HLA-B, SPDA1","Major histocompatibility complex, class I, B","142830","HLA-B","3106","ENSG00000234745,ENST00000412585.7",null,"{Synovitis, chronic, susceptibility to}",null,null,"3"]
["6p21.33","6:31353874-31357178","HLA-B, SPDA1","Major histocompatibility complex, class I, B","142830","HLA-B","3106","ENSG00000234745,ENST00000412585.7",null,"{Toxic epidermal necrolysis, susceptibility to}","608579",null,"3"]
["6p21.32","6:32637405-32654845","HLA-DQA1, CELIAC1","Major histocompatibility complex, class II, DQ alpha-1","146880","HLA-DQA1","3117","ENSG00000196735,ENST00000343139.11",null,"{Celiac disease, susceptibility to}","212750","Autosomal recessive; Multifactorial","3","H2-Aa"]
["6p21.32","6:32659466-32666656","HLA-DQB1, CELIAC1","Major histocompatibility complex, class II, DQ beta-1","604305","HLA-DQB1","3119","ENSG00000179344,ENST00000374943.8",null,"{Celiac disease, susceptibility to}","212750","Autosomal recessive; Multifactorial","3","H2-Ab1"]
["6p21.32","6:32659466-32666656","HLA-DQB1, CELIAC1","Major histocompatibility complex, class II, DQ beta-1","604305","HLA-DQB1","3119","ENSG00000179344,ENST00000374943.8",null,"{Creutzfeldt-Jakob disease, variant, resistance to}","123400","Autosomal dominant","3","H2-Ab1"]
["6p21.32","6:32659466-32666656","HLA-DQB1, CELIAC1","Major histocompatibility complex, class II, DQ beta-1","604305","HLA-DQB1","3119","ENSG00000179344,ENST00000374943.8",null,"{Multiple sclerosis, susceptibility to, 1}","126200","Multifactorial","3","H2-Ab1"]
["6p21.32","6:33075989-33089695","HLA-DPB1","Major histocompatibility complex, class II, DP beta-1","142858","HLA-DPB1","3115","ENSG00000223865,ENST00000418931.7",null,"{Beryllium disease, chronic, susceptibility to}",null,null,"3"]
["6p21.2","6:36600000-40500000","AD17","Alzheimer disease 17","615080",null,"101290498",null,"associated with rs75932628T","Alzheimer disease 17","615080",null,"2"]
["6p12.3-p12.2","6:51614684-52087624","FCYT, PKHD1, ARPKD, PKD4","Fibrocystin","606702","PKHD1","5314","ENSG00000170927,ENST00000371117.8",null,"Polycystic kidney disease 4, with or without hepatic disease","263200","Autosomal recessive","3","Pkhd1"]
["6p11","6:57200000-59800000","AITD1","Autoimmune thyroid disease, susceptibility to, 1","608173",null,"387578",null,null,"{Autoimmune thyroid disease, susceptibility to, 1}","608173",null,"2"]
["6q13","6:73593378-73653991","SLC17A5, SIASD, SLD","Solute carrier family 17 (sodium phosphate), member 5","604322","SLC17A5","26503","ENSG00000119899,ENST00000355773.6",null,"Salla disease","604369","Autosomal recessive","3","Slc17a5"]
["6q13","6:73593378-73653991","SLC17A5, SIASD, SLD","Solute carrier family 17 (sodium phosphate), member 5","604322","SLC17A5","26503","ENSG00000119899,ENST00000355773.6",null,"Sialic acid storage disorder, infantile","269920","Autosomal recessive","3","Slc17a5"]
["6q14.1","6:79914813-79947552","ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34","Elongation of very long chain fatty acids 4","605512","ELOVL4","6785","ENSG00000118402,ENST00000369816.5",null,"Ichthyosis, spastic quadriplegia, and mental retardation","614457","Autosomal recessive","3","Elovl4"]
["6q14.1","6:79914813-79947552","ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34","Elongation of very long chain fatty acids 4","605512","ELOVL4","6785","ENSG00000118402,ENST00000369816.5",null,"Spinocerebellar ataxia 34","133190","Autosomal dominant","3","Elovl4"]
["6q14.1","6:79914813-79947552","ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34","Elongation of very long chain fatty acids 4","605512","ELOVL4","6785","ENSG00000118402,ENST00000369816.5",null,"Stargardt disease 3","600110","Autosomal dominant","3","Elovl4"]
["6q14.1","6:80106609-80469087","BCKDHB, E1B","Branched chain keto acid dehydrogenase E1, beta polypeptide","248611","BCKDHB","594","ENSG00000083123,ENST00000356489.9",null,"Maple syrup urine disease, type Ib","248600","Autosomal recessive","3","Bckdhb"]
["6q21-q22","6:105000000-130000000","PLF","Pulmonary function","608852",null,"450095",null,"close to D6S281","{Pulmonary function}","608852",null,"2"]
["6q21","6:107867755-107958207","SEC63, PCLD2","SEC63 homolog, protein translocation regulator","608648","SEC63","11231","ENSG00000025796,ENST00000369002.9",null,"Polycystic liver disease 2","617004","Autosomal dominant","3","Sec63"]
["6q21","6:109691295-109825430","FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP","FIG4 phosphoinositide 5-phosphatase","609390","FIG4","9896","ENSG00000112367,ENST00000230124.7","mutation identified in 1 BTOP family","?Polymicrogyria, bilateral temporooccipital","612691","Autosomal recessive","3","Fig4"]
["6q21","6:109691295-109825430","FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP","FIG4 phosphoinositide 5-phosphatase","609390","FIG4","9896","ENSG00000112367,ENST00000230124.7","mutation identified in 1 BTOP family","Amyotrophic lateral sclerosis 11","612577","Autosomal dominant","3","Fig4"]
["6q21","6:109691295-109825430","FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP","FIG4 phosphoinositide 5-phosphatase","609390","FIG4","9896","ENSG00000112367,ENST00000230124.7","mutation identified in 1 BTOP family","Charcot-Marie-Tooth disease, type 4J","611228","Autosomal recessive","3","Fig4"]
["6q21","6:109691295-109825430","FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP","FIG4 phosphoinositide 5-phosphatase","609390","FIG4","9896","ENSG00000112367,ENST00000230124.7","mutation identified in 1 BTOP family","Yunis-Varon syndrome","216340","Autosomal recessive","3","Fig4"]
["6q23-q25","6:130000000-160600000","LNCR1","Lung cancer 1","608935",null,"450093",null,"max hlod at D6S2436","{Lung cancer susceptibility}","608935",null,"2"]
["6q23.2","6:131808019-131895154","ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED","Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of)","173335","ENPP1","5167","ENSG00000197594,ENST00000647893.1",null,"{Diabetes mellitus, non-insulin-dependent, susceptibility to}","125853","Autosomal dominant","3","Enpp1"]
["6q23.2","6:131808019-131895154","ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED","Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of)","173335","ENPP1","5167","ENSG00000197594,ENST00000647893.1",null,"{Obesity, susceptibility to}","601665","Autosomal dominant; Autosomal recessive; Multifactorial","3","Enpp1"]
["6q23.2","6:131808019-131895154","ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED","Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of)","173335","ENPP1","5167","ENSG00000197594,ENST00000647893.1",null,"Arterial calcification, generalized, of infancy, 1","208000","Autosomal recessive","3","Enpp1"]
["6q23.2","6:131808019-131895154","ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED","Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of)","173335","ENPP1","5167","ENSG00000197594,ENST00000647893.1",null,"Cole disease","615522","Autosomal dominant","3","Enpp1"]
["6q23.2","6:131808019-131895154","ENPP1, PDNP1, NPPS, M6S1, PCA1, ARHR2, COLED","Ectonucleotide pyrophosphatase/phosphodiesterase 1 (Ly-41 antigen, mouse, homolog of)","173335","ENPP1","5167","ENSG00000197594,ENST00000647893.1",null,"Hypophosphatemic rickets, autosomal recessive, 2","613312","Autosomal recessive","3","Enpp1"]
["6q25.3","6:155200000-160600000","CELIAC12","Celiac disease, susceptibility to, 12","612010",null,"100188874",null,"in LD block containing TAGAP","{Celiac disease, susceptibility to, 12}","612010",null,"2"]
["6q25-q26","6:160531481-160664274","LPA","Apolipoprotein Lp(a)","152200","LPA","4018","ENSG00000198670,ENST00000316300.9","absent in mice","[LPA deficiency, congenital]","618807",null,"3"]
["6q25-q26","6:160531481-160664274","LPA","Apolipoprotein Lp(a)","152200","LPA","4018","ENSG00000198670,ENST00000316300.9","absent in mice","{Coronary artery disease, susceptibility to}","618807",null,"3"]
["6q26","6:161347416-162727801","PRKN, PARK2, PDJ","Parkin","602544","PRKN","5071","ENSG00000185345,ENST00000366898.6","shares 5' regulatory region and both 3' UTRs with PACRG","Adenocarcinoma of lung, somatic","211980",null,"3","Prkn"]
["6q26","6:161347416-162727801","PRKN, PARK2, PDJ","Parkin","602544","PRKN","5071","ENSG00000185345,ENST00000366898.6","shares 5' regulatory region and both 3' UTRs with PACRG","Ovarian cancer, somatic","167000",null,"3","Prkn"]
["6q26","6:161347416-162727801","PRKN, PARK2, PDJ","Parkin","602544","PRKN","5071","ENSG00000185345,ENST00000366898.6","shares 5' regulatory region and both 3' UTRs with PACRG","Parkinson disease, juvenile, type 2","600116","Autosomal recessive","3","Prkn"]
["6q27","6:170554368-170572858","TBP, SCA17, HDL4","TATA box binding protein","600075","TBP","6908","ENSG00000112592,ENST00000540980.5",null,"{Parkinson disease, susceptibility to}","168600","Autosomal dominant; Multifactorial","3","Tbp"]
["6q27","6:170554368-170572858","TBP, SCA17, HDL4","TATA box binding protein","600075","TBP","6908","ENSG00000112592,ENST00000540980.5",null,"Spinocerebellar ataxia 17","607136","Autosomal dominant","3","Tbp"]
["7p15.3","7:22725888-22732001","IL6, IFNB2, BSF2, HSF, HGF","Interleukin-6 (interferon, beta-2)","147620","IL6","3569","ENSG00000136244,ENST00000258743.10",null,"{Crohn disease-associated growth failure}","266600","Multifactorial","3","Il6"]
["7p15.3","7:22725888-22732001","IL6, IFNB2, BSF2, HSF, HGF","Interleukin-6 (interferon, beta-2)","147620","IL6","3569","ENSG00000136244,ENST00000258743.10",null,"{Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}","108010","Somatic mutation","3","Il6"]
["7p15.3","7:22725888-22732001","IL6, IFNB2, BSF2, HSF, HGF","Interleukin-6 (interferon, beta-2)","147620","IL6","3569","ENSG00000136244,ENST00000258743.10",null,"{Kaposi sarcoma, susceptibility to}","148000","Autosomal dominant","3","Il6"]
["7p15.3","7:22725888-22732001","IL6, IFNB2, BSF2, HSF, HGF","Interleukin-6 (interferon, beta-2)","147620","IL6","3569","ENSG00000136244,ENST00000258743.10",null,"{Rheumatoid arthritis, systemic juvenile}","604302",null,"3","Il6"]
["7p15.3","7:22725888-22732001","IL6, IFNB2, BSF2, HSF, HGF","Interleukin-6 (interferon, beta-2)","147620","IL6","3569","ENSG00000136244,ENST00000258743.10",null,"{Type 1 diabetes mellitus}","222100","Autosomal recessive","3","Il6"]
["7p15.3","7:22725888-22732001","IL6, IFNB2, BSF2, HSF, HGF","Interleukin-6 (interferon, beta-2)","147620","IL6","3569","ENSG00000136244,ENST00000258743.10",null,"{Type 2 diabetes mellitus}","125853","Autosomal dominant","3","Il6"]
["7p15.2","7:26189919-26200774","HNRPA2B1, IBMPFD2","Heterogeneous nuclear ribonucleoprotein A2/B1","600124","HNRNPA2B1","3181","ENSG00000122566,ENST00000618183.5","mutation identified in 1 family","?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2","615422",null,"3","Hnrnpa2b1"]
["7p14.3","7:30594734-30634032","GARS1, GARS, SMAD1, CMT2D, HMN5A, SMAJI","Glycyl-tRNA synthetase 1","600287","GARS1","2617","ENSG00000106105,ENST00000675693.1",null,"Charcot-Marie-Tooth disease, type 2D","601472","Autosomal dominant","3","Gars"]
["7p14.3","7:30594734-30634032","GARS1, GARS, SMAD1, CMT2D, HMN5A, SMAJI","Glycyl-tRNA synthetase 1","600287","GARS1","2617","ENSG00000106105,ENST00000675693.1",null,"Neuronopathy, distal hereditary motor, type VA","600794","Autosomal dominant","3","Gars"]
["7p14.3","7:30594734-30634032","GARS1, GARS, SMAD1, CMT2D, HMN5A, SMAJI","Glycyl-tRNA synthetase 1","600287","GARS1","2617","ENSG00000106105,ENST00000675693.1",null,"Spinal muscular atrophy, infantile, James type","619042","Autosomal dominant","3","Gars"]
["7p14.1","7:37905931-37916816","SFRP4, FRPHE, PYL","Secreted frizzled-related protein 4","606570","SFRP4","6424","ENSG00000106483,ENST00000436072.7",null,"Pyle disease","265900","Autosomal recessive","3","Sfrp4"]
["7p13","7:44062726-44065566","PGAM2, PGAMM, GSD10","Phosphoglycerate mutase, muscle form","612931","PGAM2","5224","ENSG00000164708,ENST00000297283.4",null,"Glycogen storage disease X","261670","Autosomal recessive","3","Pgam2"]
["7p11.2","7:55019016-55211627","EGFR, NISBD2","Epidermal growth factor receptor","131550","EGFR","1956","ENSG00000146648,ENST00000455089.5","same as oncogene ERBB; mutation identified in 1 NISBD2 family","?Inflammatory skin and bowel disease, neonatal, 2","616069","Autosomal recessive","3","Egfr"]
["7p11.2","7:55019016-55211627","EGFR, NISBD2","Epidermal growth factor receptor","131550","EGFR","1956","ENSG00000146648,ENST00000455089.5","same as oncogene ERBB; mutation identified in 1 NISBD2 family","{Nonsmall cell lung cancer, susceptibility to}","211980","Autosomal dominant; Somatic mutation","3","Egfr"]
["7p11.2","7:55019016-55211627","EGFR, NISBD2","Epidermal growth factor receptor","131550","EGFR","1956","ENSG00000146648,ENST00000455089.5","same as oncogene ERBB; mutation identified in 1 NISBD2 family","Adenocarcinoma of lung, response to tyrosine kinase inhibitor in","211980","Autosomal dominant; Somatic mutation","3","Egfr"]
["7p11.2","7:55019016-55211627","EGFR, NISBD2","Epidermal growth factor receptor","131550","EGFR","1956","ENSG00000146648,ENST00000455089.5","same as oncogene ERBB; mutation identified in 1 NISBD2 family","Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in","211980","Autosomal dominant; Somatic mutation","3","Egfr"]
["7p11.2","7:56101572-56106475","CHCHD2, PARK22","Coiled-coil-helix-coiled-coil-helix domain-containing protein 2","616244","CHCHD2","51142","ENSG00000106153,ENST00000395422.4",null,"Parkinson disease 22, autosomal dominant","616710","Autosomal dominant","3","Chchd2,Chchd2-ps"]
["7q11.23","7:74773961-74789375","NCF1, CGD1","Neutrophil cytosolic factor-1, 47kD","608512","NCF1","653361","ENSG00000158517,ENST00000289473.10",null,"Chronic granulomatous disease 1, autosomal recessive","233700","Autosomal recessive","3","Ncf1"]
["7q11.23","7:76302672-76304291","HSPB1, HSP27, CMT2F, HMN2B","Heat-shock 27kD protein-1","602195","HSPB1","3315","ENSG00000106211,ENST00000248553.7",null,"Charcot-Marie-Tooth disease, axonal, type 2F","606595","Autosomal dominant","3","Hspb1"]
["7q11.23","7:76302672-76304291","HSPB1, HSP27, CMT2F, HMN2B","Heat-shock 27kD protein-1","602195","HSPB1","3315","ENSG00000106211,ENST00000248553.7",null,"Neuronopathy, distal hereditary motor, type IIB","608634","Autosomal dominant","3","Hspb1"]
["7q21.11","7:80602206-80679276","CD36, CHDS7, BDPLT10","CD36 antigen (collagen type I)","173510","CD36","948","ENSG00000135218,ENST00000394788.7",null,"{Coronary heart disease, susceptibility to, 7}","610938",null,"3","Cd36"]
["7q21.11","7:80602206-80679276","CD36, CHDS7, BDPLT10","CD36 antigen (collagen type I)","173510","CD36","948","ENSG00000135218,ENST00000394788.7",null,"{Malaria, cerebral, reduced risk of}","611162",null,"3","Cd36"]
["7q21.11","7:80602206-80679276","CD36, CHDS7, BDPLT10","CD36 antigen (collagen type I)","173510","CD36","948","ENSG00000135218,ENST00000394788.7",null,"{Malaria, cerebral, susceptibility to}","611162",null,"3","Cd36"]
["7q21.11","7:80602206-80679276","CD36, CHDS7, BDPLT10","CD36 antigen (collagen type I)","173510","CD36","948","ENSG00000135218,ENST00000394788.7",null,"Platelet glycoprotein IV deficiency","608404","Autosomal recessive","3","Cd36"]
["7q21.12","7:87398987-87476721","ABCB4, PGY3, MDR3, ICP3","ATP-binding cassette, subfamily B, member 4 (P-glycoprotein-3/multiple drug resistance-3)","171060","ABCB4","5244","ENSG00000005471,ENST00000649586.1","within 500kb of MDR1","Cholestasis, intrahepatic, of pregnancy, 3","614972","Autosomal dominant; Autosomal recessive","3","Abcb4"]
["7q21.12","7:87398987-87476721","ABCB4, PGY3, MDR3, ICP3","ATP-binding cassette, subfamily B, member 4 (P-glycoprotein-3/multiple drug resistance-3)","171060","ABCB4","5244","ENSG00000005471,ENST00000649586.1","within 500kb of MDR1","Cholestasis, progressive familial intrahepatic 3","602347","Autosomal recessive","3","Abcb4"]
["7q21.12","7:87398987-87476721","ABCB4, PGY3, MDR3, ICP3","ATP-binding cassette, subfamily B, member 4 (P-glycoprotein-3/multiple drug resistance-3)","171060","ABCB4","5244","ENSG00000005471,ENST00000649586.1","within 500kb of MDR1","Gallbladder disease 1","600803","Autosomal dominant; Autosomal recessive","3","Abcb4"]
["7q21.12","7:87503016-87713294","ABCB1, PGY1, MDR1, IBD13, CLCs","ATP-binding cassette, subfamily B, member 1 (P-glycoprotein-1/multiple drug resistance-1)","171050","ABCB1","5243","ENSG00000085563,ENST00000265724.8",null,"{Colchicine resistance}","120080",null,"3","Abcb1a"]
["7q21.12","7:87503016-87713294","ABCB1, PGY1, MDR1, IBD13, CLCs","ATP-binding cassette, subfamily B, member 1 (P-glycoprotein-1/multiple drug resistance-1)","171050","ABCB1","5243","ENSG00000085563,ENST00000265724.8",null,"{Inflammatory bowel disease 13}","612244",null,"3","Abcb1a"]
["7q21.3","7:95297675-95324531","PON1, PON, ESA, MVCD5","Paraoxonase-1","168820","PON1","5444","ENSG00000005421,ENST00000222381.8",null,"{Coronary artery disease, susceptibility to}",null,null,"3","Pon1"]
["7q21.3","7:95297675-95324531","PON1, PON, ESA, MVCD5","Paraoxonase-1","168820","PON1","5444","ENSG00000005421,ENST00000222381.8",null,"{Coronary artery spasm 2, susceptibility to",null,null,"3","Pon1"]
["7q21.3","7:95297675-95324531","PON1, PON, ESA, MVCD5","Paraoxonase-1","168820","PON1","5444","ENSG00000005421,ENST00000222381.8",null,"{Microvascular complications of diabetes 5}","612633",null,"3","Pon1"]
["7q21.3","7:95297675-95324531","PON1, PON, ESA, MVCD5","Paraoxonase-1","168820","PON1","5444","ENSG00000005421,ENST00000222381.8",null,"{Organophosphate poisoning, sensitivity to}",null,null,"3","Pon1"]
["7q21.3","7:95404861-95435027","PON2","Paraoxonase-2","602447","PON2","5445","ENSG00000105854,ENST00000222572.8",null,"{Coronary artery disease, susceptibility to}",null,null,"3","Pon2"]
["7q22","7:98400000-107800000","IBD11","Inflammatory bowel disease 11","191390",null,"100529151",null,"associated with MUC3A","{Inflammatory bowel disease 11}","191390","Multifactorial","2"]
["7q22.1","7:99374253-99394815","ARPC1B, ARC41, IMD71","Actin-related protein 2/3 complex, subunit 1B","604223","ARPC1B","10095","ENSG00000130429,ENST00000646101.2",null,"Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia","617718","Autosomal recessive","3","Arpc1b"]
["7q31.2","7:116525008-116561184","CAV1, BSCL3, CGL3, PPH3, LCCNS","Caveolin-1","601047","CAV1","857","ENSG00000105974,ENST00000405348.5","mutation identified in 1 CGL3 family","?Lipodystrophy, congenital generalized, type 3","612526","Autosomal recessive","3","Cav1"]
["7q31.2","7:116525008-116561184","CAV1, BSCL3, CGL3, PPH3, LCCNS","Caveolin-1","601047","CAV1","857","ENSG00000105974,ENST00000405348.5","mutation identified in 1 CGL3 family","Lipodystrophy, familial partial, type 7","606721","Autosomal dominant","3","Cav1"]
["7q31.2","7:116525008-116561184","CAV1, BSCL3, CGL3, PPH3, LCCNS","Caveolin-1","601047","CAV1","857","ENSG00000105974,ENST00000405348.5","mutation identified in 1 CGL3 family","Pulmonary hypertension, primary, 3","615343","Autosomal dominant","3","Cav1"]
["7q32.1","7:128937031-128950037","IRF5, IBD14, SLEB10","Interferon regulatory factor 5","607218","IRF5","3663","ENSG00000128604,ENST00000473745.5",null,"{Inflammatory bowel disease 14}","612245",null,"3","Irf5"]
["7q32.1","7:128937031-128950037","IRF5, IBD14, SLEB10","Interferon regulatory factor 5","607218","IRF5","3663","ENSG00000128604,ENST00000473745.5",null,"{Systemic lupus erythematosus, susceptibility to, 10}","612251",null,"3","Irf5"]
["7q34","7:140713327-140924928","BRAF, NS7","B-Raf proto-oncogene, serine/threonine kinase","164757","BRAF","673","ENSG00000157764,ENST00000496384.7","pseudogene BRAF2 on Xq13 or 7q","Adenocarcinoma of lung, somatic","211980",null,"3","Braf"]
["7q34","7:140713327-140924928","BRAF, NS7","B-Raf proto-oncogene, serine/threonine kinase","164757","BRAF","673","ENSG00000157764,ENST00000496384.7","pseudogene BRAF2 on Xq13 or 7q","Cardiofaciocutaneous syndrome","115150","Autosomal dominant","3","Braf"]
["7q34","7:140713327-140924928","BRAF, NS7","B-Raf proto-oncogene, serine/threonine kinase","164757","BRAF","673","ENSG00000157764,ENST00000496384.7","pseudogene BRAF2 on Xq13 or 7q","Colorectal cancer, somatic","114500",null,"3","Braf"]
["7q34","7:140713327-140924928","BRAF, NS7","B-Raf proto-oncogene, serine/threonine kinase","164757","BRAF","673","ENSG00000157764,ENST00000496384.7","pseudogene BRAF2 on Xq13 or 7q","LEOPARD syndrome 3","613707","Autosomal dominant","3","Braf"]
["7q34","7:140713327-140924928","BRAF, NS7","B-Raf proto-oncogene, serine/threonine kinase","164757","BRAF","673","ENSG00000157764,ENST00000496384.7","pseudogene BRAF2 on Xq13 or 7q","Melanoma, malignant, somatic,","155600",null,"3","Braf"]
["7q34","7:140713327-140924928","BRAF, NS7","B-Raf proto-oncogene, serine/threonine kinase","164757","BRAF","673","ENSG00000157764,ENST00000496384.7","pseudogene BRAF2 on Xq13 or 7q","Nonsmall cell lung cancer, somatic",null,null,"3","Braf"]
["7q34","7:140713327-140924928","BRAF, NS7","B-Raf proto-oncogene, serine/threonine kinase","164757","BRAF","673","ENSG00000157764,ENST00000496384.7","pseudogene BRAF2 on Xq13 or 7q","Noonan syndrome 7","613706","Autosomal dominant","3","Braf"]
["7q34","7:142770969-142774559","PRSS2, TRY2","Protease, serine, 2 (trypsin 2)","601564","PRSS2","5645","ENSG00000275896,ENST00000633969.1",null,"{Pancreatitis, chronic, protection against}","167800","Autosomal dominant","3","Prss2"]
["7q36","7:148200000-159345973","AD10","Alzheimer disease-10","609636",null,"780912",null,"max lod with D7S798","Alzheimer disease-10","609636","Autosomal dominant","2"]
["7q36.1","7:150991016-151014587","NOS3","Nitric oxide synthase 3, endothelial cell","163729","NOS3","4846","ENSG00000164867,ENST00000297494.8",null,"{Alzheimer disease, late-onset, susceptibility to}","104300","Autosomal dominant","3","Nos3"]
["7q36.1","7:150991016-151014587","NOS3","Nitric oxide synthase 3, endothelial cell","163729","NOS3","4846","ENSG00000164867,ENST00000297494.8",null,"{Coronary artery spasm 1, susceptibility to}",null,null,"3","Nos3"]
["7q36.1","7:150991016-151014587","NOS3","Nitric oxide synthase 3, endothelial cell","163729","NOS3","4846","ENSG00000164867,ENST00000297494.8",null,"{Hypertension, pregnancy-induced}","189800","Autosomal dominant","3","Nos3"]
["7q36.1","7:150991016-151014587","NOS3","Nitric oxide synthase 3, endothelial cell","163729","NOS3","4846","ENSG00000164867,ENST00000297494.8",null,"{Hypertension, susceptibility to}","145500","Multifactorial","3","Nos3"]
["7q36.1","7:150991016-151014587","NOS3","Nitric oxide synthase 3, endothelial cell","163729","NOS3","4846","ENSG00000164867,ENST00000297494.8",null,"{Ischemic stroke, susceptibility to}","601367","Multifactorial","3","Nos3"]
["7q36.1","7:150991016-151014587","NOS3","Nitric oxide synthase 3, endothelial cell","163729","NOS3","4846","ENSG00000164867,ENST00000297494.8",null,"{Placental abruption}",null,null,"3","Nos3"]
["7q36.1","7:151556123-151877114","PRKAG2, WPWS, CMH6","Protein kinase, AMP-activated, noncatalytic, gamma-2","602743","PRKAG2","51422","ENSG00000106617,ENST00000392801.6",null,"Cardiomyopathy, hypertrophic 6","600858","Autosomal dominant","3","Prkag2"]
["7q36.1","7:151556123-151877114","PRKAG2, WPWS, CMH6","Protein kinase, AMP-activated, noncatalytic, gamma-2","602743","PRKAG2","51422","ENSG00000106617,ENST00000392801.6",null,"Glycogen storage disease of heart, lethal congenital","261740","Autosomal dominant","3","Prkag2"]
["7q36.1","7:151556123-151877114","PRKAG2, WPWS, CMH6","Protein kinase, AMP-activated, noncatalytic, gamma-2","602743","PRKAG2","51422","ENSG00000106617,ENST00000392801.6",null,"Wolff-Parkinson-White syndrome","194200","Autosomal dominant","3","Prkag2"]
["Chr.7",null,"AIS2, VAMAS3","Autoimmune disease, susceptibility to, 2","608391",null,"378426",null,null,"{Autoimmune disease, susceptibility to, 2}","608391",null,"2"]
["8p23.1","8:11676930-11760001","GATA4, ASD2, VSD1, TACHD, TOF","GATA-binding protein-4","600576","GATA4","2626","ENSG00000136574,ENST00000532059.5","mutations identified in 1 TACHD family","?Testicular anomalies with or without congenital heart disease","615542","Autosomal dominant","3","Gata4"]
["8p23.1","8:11676930-11760001","GATA4, ASD2, VSD1, TACHD, TOF","GATA-binding protein-4","600576","GATA4","2626","ENSG00000136574,ENST00000532059.5","mutations identified in 1 TACHD family","Atrial septal defect 2","607941","Autosomal dominant","3","Gata4"]
["8p23.1","8:11676930-11760001","GATA4, ASD2, VSD1, TACHD, TOF","GATA-binding protein-4","600576","GATA4","2626","ENSG00000136574,ENST00000532059.5","mutations identified in 1 TACHD family","Atrioventricular septal defect 4","614430","Autosomal dominant","3","Gata4"]
["8p23.1","8:11676930-11760001","GATA4, ASD2, VSD1, TACHD, TOF","GATA-binding protein-4","600576","GATA4","2626","ENSG00000136574,ENST00000532059.5","mutations identified in 1 TACHD family","Tetralogy of Fallot","187500","Autosomal dominant","3","Gata4"]
["8p23.1","8:11676930-11760001","GATA4, ASD2, VSD1, TACHD, TOF","GATA-binding protein-4","600576","GATA4","2626","ENSG00000136574,ENST00000532059.5","mutations identified in 1 TACHD family","Ventricular septal defect 1","614429","Autosomal dominant","3","Gata4"]
["8p22","8:12800000-19200000","CHDS9","Coronary heart disease, susceptibility to, 9","612030",null,"100188877",null,"max lod at D8S1106","{Coronary heart disease, susceptibility to, 9}","612030",null,"2"]
["8p21.3","8:22157382-22164478","SFTPC, SFTP2, SMDP2","Surfactant, pulmonary-associated protein C (pulmonary surfactant apoprotein-2, SP-C)","178620","SFTPC","6440","ENSG00000168484,ENST00000521315.5",null,"Surfactant metabolism dysfunction, pulmonary, 2","610913","Autosomal dominant","3","Sftpc"]
["8p21.2","8:24950954-24956611","NEFL, CMT2E, CMT1F, CMTDIG","Neurofilament, light polypeptide","162280","NEFL","4747","ENSG00000277586,ENST00000610854.1",null,"Charcot-Marie-Tooth disease, dominant intermediate G","617882","Autosomal dominant","3","Nefl"]
["8p21.2","8:24950954-24956611","NEFL, CMT2E, CMT1F, CMTDIG","Neurofilament, light polypeptide","162280","NEFL","4747","ENSG00000277586,ENST00000610854.1",null,"Charcot-Marie-Tooth disease, type 1F","607734","Autosomal dominant; Autosomal recessive","3","Nefl"]
["8p21.2","8:24950954-24956611","NEFL, CMT2E, CMT1F, CMTDIG","Neurofilament, light polypeptide","162280","NEFL","4747","ENSG00000277586,ENST00000610854.1",null,"Charcot-Marie-Tooth disease, type 2E","607684","Autosomal dominant","3","Nefl"]
["8p12-q22","8:29000000-105100000","AD12","Alzheimer disease 12","611073",null,"100188830",null,"max lod at D8S1119","{Alzheimer disease 12}","611073",null,"2"]
["8q13-q23","8:65100000-116700000","CMT2H","Charcot-Marie-Tooth disease, axonal, type 2H","607731",null,"619496",null,"between D8S1807 and D8S548","Charcot-Marie-Tooth disease, axonal, type 2H","607731","Autosomal recessive","2"]
["8q21.11","8:74234699-74321539","JPH1, JP1, CMT2K","Junctophilin 1","605266","JPH1","56704","ENSG00000104369,ENST00000342232.5","mutation identified in 1 CMT2K family","?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K","607831","Autosomal dominant; Autosomal recessive","3","Jph1"]
["8q21.11","8:74350402-74488871","GDAP1, CMT4A, CMT2K, CMTRIA","Ganglioside-induced differentiation-associated protein 1","606598","GDAP1","54332","ENSG00000104381,ENST00000674865.1",null,"Charcot-Marie-Tooth disease, axonal, type 2K","607831","Autosomal dominant; Autosomal recessive","3","Gdap1"]
["8q21.11","8:74350402-74488871","GDAP1, CMT4A, CMT2K, CMTRIA","Ganglioside-induced differentiation-associated protein 1","606598","GDAP1","54332","ENSG00000104381,ENST00000674865.1",null,"Charcot-Marie-Tooth disease, axonal, with vocal cord paresis","607706","Autosomal recessive","3","Gdap1"]
["8q21.11","8:74350402-74488871","GDAP1, CMT4A, CMT2K, CMTRIA","Ganglioside-induced differentiation-associated protein 1","606598","GDAP1","54332","ENSG00000104381,ENST00000674865.1",null,"Charcot-Marie-Tooth disease, recessive intermediate, A","608340","Autosomal recessive","3","Gdap1"]
["8q21.11","8:74350402-74488871","GDAP1, CMT4A, CMT2K, CMTRIA","Ganglioside-induced differentiation-associated protein 1","606598","GDAP1","54332","ENSG00000104381,ENST00000674865.1",null,"Charcot-Marie-Tooth disease, type 4A","214400","Autosomal recessive","3","Gdap1"]
["8q21.13","8:81440325-81447438","PMP2, CMT1G","Peripheral myelin protein-2","170715","PMP2","5375","ENSG00000147588,ENST00000519260.1",null,"Charcot-Marie-Tooth disease, demyelinating, type 1G","618279","Autosomal dominant","3","Pmp2"]
["8q23","8:105100000-116700000","MYMY3","Moyamoya disease 3","608796",null,"493818",null,"max lod at D8S546","Moyamoya disease 3","608796",null,"2"]
["8q24.12","8:118923556-118951884","TNFRSF11B, OPG, OCIF, PDB5","Tumor necrosis factor receptor superfamily, member 11B (osteoprotegerin)","602643","TNFRSF11B","4982","ENSG00000164761,ENST00000297350.9",null,"Paget disease of bone 5, juvenile-onset","239000","Autosomal recessive","3","Tnfrsf11b"]
["8q24.22","8:132866942-133134901","TG, AITD3, TDH3","Thyroglobulin","188450","TG","7038","ENSG00000042832,ENST00000220616.9","distal to MYC","{Autoimmune thyroid disease, susceptibility to, 3}","608175",null,"3","Tg"]
["8q24.22","8:132866942-133134901","TG, AITD3, TDH3","Thyroglobulin","188450","TG","7038","ENSG00000042832,ENST00000220616.9","distal to MYC","Thyroid dyshormonogenesis 3","274700","Autosomal recessive","3","Tg"]
[]
[]
[]
["Phenotype Mapping Key"]
["1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known."]
["2 - The disorder was placed on the map by statistical methods."]
["3 - The molecular basis of the disorder is known."]
["4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved."]
[]
[]
[]
["This search returned 453 entries which exceeded the maximum of 200 so the results were truncated"]
["You can register for MIMmatch ( https://omim.org/mimmatch/ ) to raise this limit to 1,000"]
["You can register for downloads ( https://omim.org/downloads ) and/or the API ( https://omim.org/api ) for more search/download options"]