{"orpha":87884,"name":"Rare non-syndromic genetic deafness","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Rare isolated genetic deafness","Rare isolated genetic hearing loss","Rare non-syndromic genetic hearing loss"],"definition":"A rare genetic deafness characterized by sensorineural, conductive, or mixed hearing loss occurring as an isolated finding, without associated malformations or abnormalities of other organ systems. Hearing impairment may range from mild to profound; onset may be prelingual or postlingual, and hearing loss may be stable or progressive. It displays marked genetic heterogeneity with autosomal recessive (DFNB; ~75-80%), autosomal dominant (DFNA; ~20%), X-linked (DFNX; ~2-5%), mitochondrial (<1%), and Y-linked (DFNY; <1%) inheritance. Autosomal recessive forms typically present with severe-to-profound congenital hearing loss, while autosomal dominant forms more commonly show progressive postlingual onset.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-87884/","orphanet_url":"https://www.orpha.net/en/disease/detail/87884","names":{"fr":{"name":"Surdité génétique non syndromique rare","synonyms":["Surdité génétique isolée rare"],"definition":"La surdité est le déficit sensoriel le plus fréquent. La grande majorité des surdités sont dites non-syndromiques ou isolées, c'est à dire que le déficit auditif est le seul signe clinique observé."},"de":{"name":"Seltene nicht-syndromale Schwerhörigkeit, genetisch-bedingte","synonyms":["Seltener isolierter genetisch bedingter Hörverlust","Seltene isolierte genetisch bedingte Taubheit","Seltene nicht-syndromale genetisch bedingte Taubheit"]},"es":{"name":"Sordera genética no sindrómica rara","synonyms":["Hipoacusia genética aislada rara","Hipoacusia genética no sindrómica rara","Sordera genética aislada rara"],"definition":"La sordera es la forma más frecuente de déficit sensorial. En la gran mayoría de los casos, la sordera se clasifica como no sindrómica o aislada y la hipoacusia es la única anomalía clínica informada. En los países desarrollados, el 60-80% de los casos de hipoacusia de inicio temprano son de origen genético."},"it":{"name":"Sordità genetica non sindromica rara","synonyms":["Sordità genetica isolata rara","Perdita dell'udito genetica isolata rara","Sordità genetica non sindromica rara"]},"nl":{"name":"Zeldzame niet-syndromale genetische doofheid","synonyms":["Zeldzaam geïsoleerd genetisch gehoorverlies","Zeldzame geïsoleerde genetische doofheid","Zeldzaam niet-syndromaal genetisch gehoorverlies"],"definition":"Doofheid is de meest frequente vorm van sensorische stoornis. In de overgrote meerderheid van de gevallen wordt de doofheid niet-syndromaal of geïsoleerd genoemd, en is gehoorverlies de enige klinische anomalie die wordt gerapporteerd. In ontwikkelde landen is 60-80% van de gevallen van vroeg optredend gehoorverlies genetisch van oorsprong."},"pt":{"name":"Surdez genética não sindromática"},"pl":{"name":"Niesyndromiczna głuchota genetyczna","synonyms":["Izolowana głuchota genetyczna"]},"cs":{"name":"Nesyndromová geneticky podmíněná hluchota","synonyms":["Izolovaná geneticky podmíněná hluchota"]},"uk":{"name":"Несиндромальна генетично обумовлена глухота","synonyms":["Ізольована генетична глухота","Ізольована генетична втрата слуху","Несиндромальна генетична приглухуватість"],"definition":"Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin."},"zh":{"name":"非综合征型遗传性耳聋","synonyms":["非综合征性遗传性听力丧失"]},"tr":{"name":"Sendromik olmayan genetik sağırlık","synonyms":["İzole genetik sağırlık","İzole genetik işitme kaybı","Sendromik olmayan genetik işitme kaybı"]}},"xrefs":[{"source":"ICD-10","code":"H90.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"AB50","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1154032108"},{"source":"MONDO","code":"0019497","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680182","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":216445,"name":"Prelingual non-syndromic genetic deafness","status":"inactive"},{"type":"Moved to","orpha":216452,"name":"Postlingual non-syndromic genetic deafness","status":"inactive"}],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":68361,"name":"Rare deafness","classifications":[200]},{"orpha":96210,"name":"Rare genetic deafness","classifications":[156]}],"children":[{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness","type":"Etiological subtype"},{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness","type":"Etiological subtype"},{"orpha":90641,"name":"Mitochondrial non-syndromic sensorineural deafness","type":"Etiological subtype"},{"orpha":90625,"name":"X-linked non-syndromic genetic deafness","type":"Etiological subtype"},{"orpha":718255,"name":"Y-linked non-syndromic genetic deafness","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GJA1","name":"gap junction protein alpha 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11741837[PMID]","hgnc":"4274","ensembl":"ENSG00000152661","omim":"121014","loci":["6q22.31"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"MT-ND4","name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17723226[PMID]","hgnc":"7459","ensembl":"ENSG00000198886","omim":"516003","loci":["mitochondria"],"via":{"orpha":90641,"name":"Mitochondrial non-syndromic sensorineural deafness"}},{"symbol":"MYO1A","name":"myosin IA","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"7595","ensembl":"ENSG00000166866","omim":"601478","loci":["12q13.3"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"ADCY1","name":"adenylate cyclase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24482543[PMID]","hgnc":"232","ensembl":"ENSG00000164742","omim":"103072","loci":["7p12.3"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"CDC14A","name":"cell division cycle 14A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27259055[PMID]","hgnc":"1718","ensembl":"ENSG00000079335","omim":"603504","loci":["1p21.2"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"EPS8","name":"EGFR pathway substrate 8, signaling adaptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24741995[PMID]","hgnc":"3420","ensembl":"ENSG00000151491","omim":"600206","loci":["12p12.3"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"GRXCR2","name":"glutaredoxin and cysteine rich domain containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24619944[PMID]","hgnc":"33862","ensembl":"ENSG00000204928","omim":"615762","loci":["5q32"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"S1PR2","name":"sphingosine-1-phosphate receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26805784[PMID]","hgnc":"3169","ensembl":"ENSG00000267534","omim":"605111","loci":["19p13.2"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"SLITRK6","name":"SLIT and NTRK like family member 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23543054[PMID]","hgnc":"23503","ensembl":"ENSG00000184564","omim":"609681","loci":["13q31.1"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"ABCC1","name":"ATP binding cassette subfamily C member 1 (ABCC1 blood group)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31273342[PMID]","hgnc":"51","ensembl":"ENSG00000103222","omim":"158343","loci":["16p13.11"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"ACTG1","name":"actin gamma 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"144","ensembl":"ENSG00000184009","omim":"102560","loci":["17q25.3"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"AFG2B","name":"AAA ATPase AFG2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34626583[PMID]","hgnc":"28762","ensembl":"ENSG00000171763","omim":"619578","loci":["15q21.1"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"ATP11A","name":"ATPase phospholipid transporting 11A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35278131[PMID]","hgnc":"13552","ensembl":"ENSG00000068650","omim":"605868","loci":["13q34"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"BDP1","name":"BDP1 general transcription factor IIIB subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24312468[PMID]","hgnc":"13652","ensembl":"ENSG00000145734","omim":"607012","loci":["5q13.2"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"BSND","name":"barttin CLCNK type accessory subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]","hgnc":"16512","ensembl":"ENSG00000162399","omim":"606412","loci":["1p32.3"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"CABP2","name":"calcium binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22981119[PMID]","hgnc":"1385","ensembl":"ENSG00000167791","omim":"607314","loci":["11q13.2"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"CCDC50","name":"coiled-coil domain containing 50","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"18111","ensembl":"ENSG00000152492","omim":"611051","loci":["3q28"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"CD164","name":"CD164 molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26197441[PMID]","hgnc":"1632","ensembl":"ENSG00000135535","omim":"603356","loci":["6q21"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"CDH23","name":"cadherin related 23","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"13733","ensembl":"ENSG00000107736","omim":"605516","loci":["10q22.1"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"CEACAM16","name":"CEA cell adhesion molecule 16, tectorial membrane component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21368133[PMID]","hgnc":"31948","ensembl":"ENSG00000213892","omim":"614591","loci":["19q13.31-q13.32"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"CEACAM16","name":"CEA cell adhesion molecule 16, tectorial membrane component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29703829[PMID]","hgnc":"31948","ensembl":"ENSG00000213892","omim":"614591","loci":["19q13.31-q13.32"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"CENPP","name":"centromere protein P","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36071244[PMID]","hgnc":"32933","ensembl":"ENSG00000188312","omim":"611505","loci":["9q22.31"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"CIB2","name":"calcium and integrin binding family member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23023331[PMID]_24148127[PMID]","hgnc":"24579","ensembl":"ENSG00000136425","omim":"605564","loci":["15q25.1"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"CLDN14","name":"claudin 14","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"2035","ensembl":"ENSG00000159261","omim":"605608","loci":["21q22.13"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"CLIC5","name":"CLIC family member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24781754[PMID]","hgnc":"13517","ensembl":"ENSG00000112782","omim":"607293","loci":["6p21.1"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"COCH","name":"cochlin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"2180","ensembl":"ENSG00000100473","omim":"603196","loci":["14q12"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"COL11A1","name":"collagen type XI alpha 1 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30245514[PMID]_33605226[PMID]","hgnc":"2186","ensembl":"ENSG00000060718","omim":"120280","loci":["1p21.1"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"COL11A2","name":"collagen type XI alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"2187","ensembl":"ENSG00000204248","omim":"120290","loci":["6p21.32"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"COL11A2","name":"collagen type XI alpha 2 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"2187","ensembl":"ENSG00000204248","omim":"120290","loci":["6p21.32"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"COL4A6","name":"collagen type IV alpha 6 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23714752[PMID]","hgnc":"2208","ensembl":"ENSG00000197565","omim":"303631","loci":["Xq22.3"],"via":{"orpha":90625,"name":"X-linked non-syndromic genetic deafness"}},{"symbol":"CRYM","name":"crystallin mu","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24148127[PMID]","hgnc":"2418","ensembl":"ENSG00000103316","omim":"123740","loci":["16p12.2"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"DCDC2","name":"doublecortin domain containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25601850[PMID]","hgnc":"18141","ensembl":"ENSG00000146038","omim":"605755","loci":["6p22.3"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"DIABLO","name":"diablo IAP-binding mitochondrial protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21722859[PMID]_24148127[PMID]","hgnc":"21528","ensembl":"ENSG00000184047","omim":"605219","loci":["12q24.31"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"DIAPH3","name":"diaphanous related formin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20624953[PMID]","hgnc":"15480","ensembl":"ENSG00000139734","omim":"614567","loci":["13q21.2"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"DMXL2","name":"Dmx like 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27657680[PMID]","hgnc":"2938","ensembl":"ENSG00000104093","omim":"612186","loci":["15q21.2"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"ELMOD3","name":"ELMO domain containing 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24039609[PMID]","hgnc":"26158","ensembl":"ENSG00000115459","omim":"615427","loci":["2p11.2"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"EPS8L2","name":"EPS8 signaling adaptor L2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26282398[PMID]","hgnc":"21296","ensembl":"ENSG00000177106","omim":"614988","loci":["11p15.5"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"ESPN","name":"espin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15930085[PMID]","hgnc":"13281","ensembl":"ENSG00000187017","omim":"606351","loci":["1p36.31"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"ESPN","name":"espin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"13281","ensembl":"ENSG00000187017","omim":"606351","loci":["1p36.31"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"ESRRB","name":"estrogen related receptor beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"3473","ensembl":"ENSG00000119715","omim":"602167","loci":["14q24.3"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"EYA4","name":"EYA transcriptional coactivator and phosphatase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"3522","ensembl":"ENSG00000112319","omim":"603550","loci":["6q23.2"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"GIPC3","name":"GIPC PDZ domain containing family member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24148127[PMID]","hgnc":"18183","ensembl":"ENSG00000179855","omim":"608792","loci":["19p13.3"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"GJB2","name":"gap junction protein beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"4284","ensembl":"ENSG00000165474","omim":"121011","loci":["13q12.11"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"GJB2","name":"gap junction protein beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"4284","ensembl":"ENSG00000165474","omim":"121011","loci":["13q12.11"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"GJB3","name":"gap junction protein beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"4285","ensembl":"ENSG00000188910","omim":"603324","loci":["1p34.3"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"GJB3","name":"gap junction protein beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10587579[PMID]","hgnc":"4285","ensembl":"ENSG00000188910","omim":"603324","loci":["1p34.3"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"GJB6","name":"gap junction protein beta 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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deafness"}},{"symbol":"GRAP","name":"GRB2 related adaptor protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30610177[PMID]","hgnc":"4562","ensembl":"ENSG00000154016","omim":"604330","loci":["17p11.2"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"GRHL2","name":"grainyhead like transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"2799","ensembl":"ENSG00000083307","omim":"608576","loci":["8q22.3"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"GRXCR1","name":"glutaredoxin and cysteine rich domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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deafness"}},{"symbol":"STRC","name":"stereocilin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"16035","ensembl":"ENSG00000242866","omim":"606440","loci":["15q15.3"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"SYNE4","name":"spectrin repeat containing nuclear envelope family member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23348741[PMID]_20301607[PMID]","hgnc":"26703","ensembl":"ENSG00000181392","omim":"615535","loci":["19q13.12"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"TBC1D24","name":"TBC1 domain family member 24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"11720","ensembl":"ENSG00000109927","omim":"602574","loci":["11q23.3"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"TECTA","name":"tectorin alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"11720","ensembl":"ENSG00000109927","omim":"602574","loci":["11q23.3"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"TJP2","name":"tight junction protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"11828","ensembl":"ENSG00000119139","omim":"607709","loci":["9q21.11"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"TMC1","name":"transmembrane channel like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"16513","ensembl":"ENSG00000165091","omim":"606706","loci":["9q21.13"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"TMC1","name":"transmembrane channel like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"16513","ensembl":"ENSG00000165091","omim":"606706","loci":["9q21.13"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"TMEM132E","name":"transmembrane protein 132E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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O-mannosyltransferase targeting cadherins 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37943620[PMID]","hgnc":"25904","ensembl":"ENSG00000125247","omim":"618203","loci":["13q32.3"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"TNC","name":"tenascin C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23936043[PMID]","hgnc":"5318","ensembl":"ENSG00000041982","omim":"187380","loci":["9q33.1"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"TPRN","name":"taperin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"26894","ensembl":"ENSG00000176058","omim":"613354","loci":["9q34.3"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"TRIOBP","name":"TRIO and F-actin binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301607[PMID]_24148127[PMID]","hgnc":"17009","ensembl":"ENSG00000100106","omim":"609761","loci":["22q13.1"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"TRRAP","name":"transformation/transcription domain associated protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31231791[PMID]","hgnc":"12347","ensembl":"ENSG00000196367","omim":"603015","loci":["7q22.1"],"via":{"orpha":90635,"name":"Autosomal dominant non-syndromic genetic deafness"}},{"symbol":"USH1C","name":"USH1 protein network component harmonin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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non-syndromic genetic deafness"}},{"symbol":"ATP2B2","name":"ATPase plasma membrane Ca2+ transporting 2","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"15829536[PMID]","hgnc":"815","ensembl":"ENSG00000157087","omim":"108733","loci":["3p25.3"],"via":{"orpha":90636,"name":"Autosomal recessive non-syndromic genetic deafness"}},{"symbol":"TFB1M","name":"transcription factor B1, mitochondrial","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"23510774[PMID]","hgnc":"17037","ensembl":"ENSG00000029639","omim":"607033","loci":["6q25.3"],"via":{"orpha":90641,"name":"Mitochondrial non-syndromic sensorineural deafness"}},{"symbol":"TRMU","name":"tRNA mitochondrial 2-thiouridylase","gene_type":"gene with protein product","association":"Modifying germline mutation 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(79-30%)","criteria":null},{"hpo":"HP:0000399","label":"Prelingual sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011476","label":"Profound sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007670","label":"Abnormal vestibulo-ocular reflex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011474","label":"Childhood onset sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005101","label":"High-frequency hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012713","label":"Moderate hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012714","label":"Severe hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008573","label":"Low-frequency sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null}]}}