Deafness

Disease Term Disease ID Gene Symbol Classification References Source
Deafness, Autosomal Dominant 20 C1858172 ACTG1 Causal Pathogenic evidence from ClinVar 8941379, 13680526, 14684684, 16773128, 18804074, 19477959, 22938506, 25388789 ClinVar
DEAFNESS, X-LINKED 5 (disorder) C1845095 AIFM1 Causal Pathogenic evidence from ClinVar 20362274, 23217327, 25986071, 28842795, 28888069, 28975462 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 93 C3888355 CABP2 Causal Pathogenic evidence from ClinVar 22981119 ClinVar
Deaf Mutism C4082305 CDC14A Causal Pathogenic evidence from ClinVar 29293958 ClinVar
CLDN14 Causal Pathogenic evidence from ClinVar 11163249 ClinVar
ESPN Causal Pathogenic evidence from ClinVar 15286153, 15930085 ClinVar
GJB2 Causal Pathogenic evidence from ClinVar 16172043 ClinVar
GJB3 Causal Pathogenic evidence from ClinVar 9843210 ClinVar
Deafness, Acquired C0751068 CDC14A Causal Pathogenic evidence from ClinVar 29293958 ClinVar
CLDN14 Causal Pathogenic evidence from ClinVar 11163249 ClinVar
ESPN Causal Pathogenic evidence from ClinVar 15286153, 15930085 ClinVar
GJB2 Causal Pathogenic evidence from ClinVar 16172043 ClinVar
GJB3 Causal Pathogenic evidence from ClinVar 9843210 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 32 C1837608 CDC14A Causal Pathogenic evidence from ClinVar 27259055, 29293958 ClinVar
Prelingual Deafness C0011052 CDC14A Causal Pathogenic evidence from ClinVar 29293958 ClinVar
CLDN14 Causal Pathogenic evidence from ClinVar 11163249 ClinVar
ESPN Causal Pathogenic evidence from ClinVar 15286153, 15930085 ClinVar
GJB2 Causal Pathogenic evidence from ClinVar 16172043 ClinVar
GJB3 Causal Pathogenic evidence from ClinVar 9843210 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) C1846647 CDH23 Causal Pathogenic evidence from ClinVar - ClinVar
CLIC5 Causal Pathogenic evidence from ClinVar 17021174, 24285636, 24781754 ClinVar
EPS8 Causal Pathogenic evidence from ClinVar 21236676, 21526224, 24741995, 27117407, 27132230, 27344577 ClinVar
GJB2 Causal Pathogenic evidence from ClinVar 9139825, 9482292, 9507396, 9529365, 12176036, 15241677, 21876744, 25801282 ClinVar
GJB3 Causal Pathogenic evidence from ClinVar 9843210 ClinVar
Deafness, Autosomal Recessive 12 C1832394 CDH23 Causal Pathogenic evidence from ClinVar 2706105, 11090341, 11138009, 12075507, 12522556, 15353998, 15829536, 16679490, 17850630, 21940737, 22899989, 23967202, 24618850, 24767429, 26264712 ClinVar
GJB2 Causal Pathogenic evidence from ClinVar - ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 84A C3150654 CDH23 Causal Pathogenic evidence from ClinVar - ClinVar
DEAFNESS, AUTOSOMAL DOMINANT 4B C3281297 CEACAM16 Causal Pathogenic evidence from ClinVar 21368133, 25589040, 26648831 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 48 C1836199 CIB2 Causal Pathogenic evidence from ClinVar 9931475, 23023331, 26173970, 26426422 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 29 C3279660 CLDN14 Causal Pathogenic evidence from ClinVar 11163249, 22246673, 23235333, 26969326, 27838790 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 103 C4015050 CLIC5 Causal Pathogenic evidence from ClinVar 24781754 ClinVar
Deafness, Autosomal Dominant 9 C1832425 COCH Causal Pathogenic evidence from ClinVar 9806553, 9931344, 10400989, 11295836, 12928864, 14512963, 16261627, 16835921, 17561763, 18312449, 22610276, 22931125, 23993205, 25388789, 26758463 ClinVar
Deafness, Autosomal Dominant 13 C1866095 COL11A2 Causal Pathogenic evidence from ClinVar 9805126, 10581026, 14234962, 15372529 ClinVar
Deafness, Autosomal Recessive 53 C1864746 COL11A2 Causal Pathogenic evidence from ClinVar 9805126, 14234962, 16033917, 25633957 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 66 C1857750 DCDC2 Causal Pathogenic evidence from ClinVar 25557784, 25601850, 27469900 ClinVar
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) C1852282 DIAPH1 Causal Pathogenic evidence from ClinVar 9360932, 17182868, 19102128, 22938506, 23325789, 26463574, 26912466, 27068579, 27707755, 27808407 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 88 C2829267 ELMOD3 Causal Pathogenic evidence from ClinVar 24039609 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 102 C3892050 EPS8 Causal Pathogenic evidence from ClinVar 8404850 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 35 C1837857 ESRRB Causal Pathogenic evidence from ClinVar 9344655, 18179891 ClinVar
Deafness, Autosomal Dominant 10 C1832476 EYA4 Causal Pathogenic evidence from ClinVar 9887327, 11159937, 15735644, 17567890, 22938506, 25781927, 25809937, 25961296, 30828794 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 26 C1854275 GAB1 Causal Pathogenic evidence from ClinVar 29408807 ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 15 C1866094 GIPC3 Causal Pathogenic evidence from ClinVar 9286457, 21326233, 21660509 ClinVar
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) C2675750 GJB2 Causal Pathogenic evidence from ClinVar 9285800, 9328482, 9336442, 9620796, 9856479, 10376574, 10501520, 10713883, 10807696, 10982180, 11102979, 11313763, 11354642, 11438992, 11439000, 11493200, 11584050, 12172392, 12172394, 12176036, 12189493, 12352684, 12408072, 12505163, 12668604, 12786758, 12792423, 12865758, 12910486, 12925341, 14676473, 14985372, 15070423, 15365987, 15617550, 15666300, 15967879, 16059934, 16217030, 16222667, 16380907, 16931589, 16950989, 17041943, 17485979, 17567887, 17660464, 17666888, 17935238, 18294064, 18472371, 18776652, 19235794, 19371219, 19384972, 19567088, 19715472, 19929407, 20022641, 20096356, 20234132, 20650534, 20863150, 21040787, 21094084, 21094651, 21465647, 21777984, 22567861, 22613756, 22695344, 22925408, 22991996, 23668481, 23680645, 23856378, 23967136, 24158611, 24256046, 24529908, 24774219, 24949729, 25266519, 25288386, 25388846, 25401782, 25625422, 26043044, 26252218, 26397989, 26444186, 31160754 ClinVar
Deafness, Autosomal Recessive 1b C2675235 GJB2 Causal Pathogenic evidence from ClinVar - ClinVar
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) C2673759 GJB2 Causal Pathogenic evidence from ClinVar 9139825, 9285800, 9328482, 9336442, 9471561, 9482292, 9529365, 9600457, 9620796, 9710598, 9716127, 9819448, 10049954, 10218527, 10376574, 10501520, 10544226, 10556284, 10633133, 10713883, 10751669, 10807696, 10830906, 10903123, 10982180, 10983956, 11102979, 11134236, 11216656, 11313751, 11313763, 11438992, 11439000, 11493200, 11494963, 11556849, 11584050, 11935342, 11968091, 12081719, 12112666, 12121355, 12172392, 12172394, 12176036, 12176179, 12189487, 12189493, 12239718, 12325027, 12352684, 12384501, 12408072, 12457340, 12497637, 12505163, 12560944, 12562518, 12668604, 12673800, 12746422, 12786758, 12792423, 12833397, 12865758, 12885339, 12910486, 12925341, 14676473, 14681040, 14694360, 14985372, 15033936, 15070423, 15113126, 15146474, 15241677, 15253766, 15365987, 15464305, 15479191, 15482471, 15488970, 15592461, 15617550, 15656949, 15666300, 15700112, 15954104, 15964725, 15967879, 16088916, 16154643, 16217030, 16222667, 16300957, 16380907, 16532460, 16712961, 16840571, 16849369, 16864573, 16931589, 169509 ClinVar
GJB3 Causal Pathogenic evidence from ClinVar 9843210 ClinVar
Progressive hearing loss stapes fixation C1844678 GJB2 Causal Pathogenic evidence from ClinVar - ClinVar
Deafness, Autosomal Dominant 2B C2675236 GJB3 Causal Pathogenic evidence from ClinVar 9843210 ClinVar
DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY C3148751 GJB3 Causal Pathogenic evidence from ClinVar 9843210 ClinVar
Deafness, Autosomal Dominant 3B C2675237 GJB6 Causal Pathogenic evidence from ClinVar 9799458, 10471490, 11017065, 12419304, 12788524, 14708603, 15213106, 15769851, 17259707, 23863883, 23926005, 23981984, 24514865, 24522190, 24685692, 26551294, 27137747, 27817781 ClinVar