Deafness

Disease Term Disease ID Gene Symbol Classification References Source
Deafness, Autosomal Dominant 15 C1865366 POU4F3 Causal Pathogenic evidence from ClinVar 9506947, 18228599, 18347256, 22938506, 24260153, 25388789, 28545070, 28790396 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) C1846647 PTPRQ Causal Pathogenic evidence from ClinVar 14534255, 18412156, 20346435, 20472657, 22357859, 24285636, 24446963, 25919374 ClinVar
TRIOBP Causal Pathogenic evidence from ClinVar 16385457, 16385458, 20510926, 23226338, 24853665, 27014650, 27344577, 27764096 ClinVar
ADCY1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24482543 -
DEAFNESS, AUTOSOMAL RECESSIVE 84A C3150654 PTPRQ Causal Pathogenic evidence from ClinVar 20346435, 20472657 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE, 24 C1970239 RDX Causal Pathogenic evidence from ClinVar 8486357, 17226784 ClinVar
DEAFNESS, AUTOSOMAL DOMINANT 27 C3887929 REST Causal Pathogenic evidence from ClinVar - ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 104 C4225298 RIPOR2 Causal Pathogenic evidence from ClinVar 27269051 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 68 C1835854 S1PR2 Causal Pathogenic evidence from ClinVar 16945494, 17284444, 17287522, 24176858, 26805784, 27080739, 27383011, 29776397 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 91 C3150704 SERPINB6 Causal Pathogenic evidence from ClinVar 8614560 ClinVar
DEAFNESS, AUTOSOMAL DOMINANT 23 C1854594 SIX1 Causal Pathogenic evidence from ClinVar 9770533, 10777717, 15141091, 19497856 ClinVar
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder) C1854158 SLC17A8 Causal Pathogenic evidence from ClinVar 18674745, 30245029 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT C3538946 SLC26A4 Causal Pathogenic evidence from ClinVar 9500541, 9618166, 9618167, 9920104, 10190331, 10700480, 10861298, 10878664, 11748854, 11919333, 11932316, 12354788, 12676893, 12788906, 14508505, 14679580, 15355436, 15574297, 15679828, 15811013, 16053392, 16460646, 16570074, 16711435, 17443271, 17718863, 17851929, 17876604, 18285825, 18310264, 18813951, 19169484, 19204907, 19608655, 19615760, 19786220, 20108392, 20128824, 20583162, 20597900, 20826203, 20842945, 21154317, 21961810, 22116360, 22975760, 23273637, 23705809, 23967202, 24007330, 24051746, 24105851, 24224479, 24338212, 24599119, 25266519, 25290043, 25394566, 25468468, 25525159, 25572613, 26226137, 26346818, 26752218, 26763877, 26969326, 27246798, 27344577, 27771369, 28000701, 28281779, 28444304, 28604962, 28786104, 28964290, 29048421, 29372807, 29546359, 29739340, 30077349, 30086623, 30139988, 30240412, 30484383, 30622556, 30693673, 30760291 ClinVar
Deaf Mutism C4082305 SLC26A5 Causal Pathogenic evidence from ClinVar 12719379 ClinVar
AK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19043416 -
BDNF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18607918, 19365690 -
CACNA1D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15357422 -
Deafness, Acquired C0751068 SLC26A5 Causal Pathogenic evidence from ClinVar 12719379 ClinVar
AK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19043416 -
BDNF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18607918, 19365690 -
CACNA1D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15357422 -
DEAFNESS, AUTOSOMAL RECESSIVE 61 C3151230 SLC26A5 Causal Pathogenic evidence from ClinVar 26969326 ClinVar
Prelingual Deafness C0011052 SLC26A5 Causal Pathogenic evidence from ClinVar 12719379 ClinVar
AK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19043416 -
BDNF Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18607918, 19365690 -
DEAFNESS, X-LINKED 4 (disorder) C1848204 SMPX Causal Pathogenic evidence from ClinVar 8872482, 21549336, 21549342 ClinVar
DEAFNESS, AUTOSOMAL DOMINANT 16 C1858916 STRC Causal Pathogenic evidence from ClinVar - ClinVar
Deafness, Autosomal Recessive 16 C1863561 STRC Causal Pathogenic evidence from ClinVar 11687802, 21078986, 25157971, 26011646, 26746617 ClinVar
Deafness, Sensorineural, And Male Infertility C1970187 STRC Causal Pathogenic evidence from ClinVar 17098888 ClinVar
DEAFNESS, AUTOSOMAL DOMINANT 65 C3892048 TBC1D24 Causal Pathogenic evidence from ClinVar 24291220, 24729539, 24729547, 25769375, 27281533, 27502353, 28292732, 28428906, 29100083, 30139988 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 86 C2829265 TBC1D24 Causal Pathogenic evidence from ClinVar 24291220, 24387994, 25769375, 28292732, 28428906, 30139988 ClinVar
Deafness, Autosomal Dominant 12 C1832187 TECTA Causal Pathogenic evidence from ClinVar 9949200, 12746400, 20947814, 21520338, 21917145, 22718023 ClinVar
Deafness, Autosomal Recessive 21 C1863655 TECTA Causal Pathogenic evidence from ClinVar 9949200 ClinVar
Deafness, Autosomal Dominant 36 C1847626 TMC1 Causal Pathogenic evidence from ClinVar 11850618, 17250663, 19180119, 24827932, 25388789 ClinVar
Deafness, Autosomal Recessive 7 C1832978 TMC1 Causal Pathogenic evidence from ClinVar 11850618, 16627570, 18616530, 21252500, 22105175, 23208854, 24827932, 25114259, 26157030 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 6 C1832992 TMIE Causal Pathogenic evidence from ClinVar 12145746 ClinVar
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 C1832827 TMPRSS3 Causal Pathogenic evidence from ClinVar 11424922, 11462234, 11907649, 12393794, 15447792, 16021470, 16283880, 17551081, 19170735, 21534946, 21786053, 22975204, 23255163, 23958653, 24526180, 26036852, 28246597 ClinVar
DEAFNESS, AUTOSOMAL DOMINANT 56 C3810170 TNC Causal Pathogenic evidence from ClinVar 23936043 ClinVar
Deafness, Autosomal Recessive 79 C2750082 TPRN Causal Pathogenic evidence from ClinVar 20170899 ClinVar
Deafness, Autosomal Recessive 28 C1853276 TRIOBP Causal Pathogenic evidence from ClinVar 16385457, 16385458, 20510926 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 98 C3553932 TSPEAR Causal Pathogenic evidence from ClinVar 22678063 ClinVar
Deafness, Autosomal Recessive 18 C1865870 USH1C Causal Pathogenic evidence from ClinVar 9760205, 10973248, 11139240, 12107438, 12136232, 12630964, 15578223, 17407589, 20671281, 21203349, 21487335, 22135276, 23251578, 24416283, 24498627, 25356976, 25468891, 25525159, 25560255, 27460420, 27957503, 28041643 ClinVar
DEAFNESS, AUTOSOMAL DOMINANT 6 C1833021 WFS1 Causal Pathogenic evidence from ClinVar 9817917, 11709537, 11709538, 12181639, 17517145, 18518985, 18688868, 21356526, 21917145, 24462758, 25388789, 27185633 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 31 C1846839 WHRN Causal Pathogenic evidence from ClinVar 22147658 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 44 C1857809 ADCY1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24482543 -
DEAFNESS, AUTOSOMAL RECESSIVE 63 C1969621 ANAPC15 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Deafness, Autosomal Recessive 12 C1832394 ATP2B2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17234811 -
C10orf105 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant C2675730 ATP6V1B2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24913193 -
DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION C3806634 BCAP31 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24011989 -