GeneAssociated phenotypesInheritanceClinVarHGMD
CD151Raph blood group, Nephropathy with pretibial epidermolysis bullosa and deafnessAR13
COL4A3Alport syndrome, Hematuria, benign familialAD/AR123264
COL4A4Alport syndromeAD/AR110232
COL4A5Alport syndromeXL704992
COL4A6Deafness, with cochlear malformationXL115
MYH9Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, Deafness, autosomal dominant 17AD25117
GeneAssociated phenotypesInheritanceClinVarHGMD
EYA1Otofaciocervical syndrome, Branchiootic syndrome, Branchiootorenal syndromeAD56218
SIX1Deafness, Branchiootic syndrome, Branchiootorenal syndromeAD1119
SIX5Branchiootorenal syndromeAD310
TFAP2ABranchiooculofacial sydromeAD2342
GeneAssociated phenotypesInheritanceClinVarHGMD
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataractAR1620
ACTG1*Deafness, Baraitser-Winter syndromeAD2747
ADCY1DeafnessAR11
ADGRV1Febrile seizures, familial, 4, Usher syndrome, type IICAR71236
AIFM1Deafness, Combined oxidative phosphorylation deficiency 6, Cowchock syndromeXL2731
ALMS1*Alström syndromeAR197302
ANKHCalcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant typeAD1320
ARSGUsher syndrome, type IVAR11
ATP2B2Sensorineural hearing lossAD37
ATP6V1B1Renal tubular acidosis with deafnessAR1556
ATP6V1B2Deafness, congenital, with onychodystrophy, autosomal dominant, Zimmermann-Laband syndrome 2AD63
BCS1LBjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1AR4237
BDP1*Hearing lossAD/AR11
BSNDSensorineural deafness with mild renal dysfunction, Bartter syndromeAR1020
BTDBiotinidase deficiencyAR170247
C10ORF2Perrault syndrome, Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3AR3780
CABP2DeafnessAR16
CACNA1DPrimary aldosteronism, seizures, and neurologic abnormalities, Sinoatrial node dysfunction and deafnessAD/AR78
CATSPER2*Male Infertility, DeafnessAR27
CCDC50DeafnessAD14
CD151Raph blood group, Nephropathy with pretibial epidermolysis bullosa and deafnessAR13
CD164Deafness, autosomal dominant 66AD11
CDC14ADeafness, autosomal recessive 105AR79
CDC42*Takenouchi-Kosaki syndrome, Noonan-syndrome like phenotypeAD119
CDH23Deafness, Usher syndrome, type 1DAR94358
CDK9AR1
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndromeAD3581
CEACAM16DeafnessAD/AR44
CEP250Cone rod dystrophy and hearing lossAR5
CEP78Cone rod dystrophy and hearing lossAR79
CHD7Isolated gonadotropin-releasing hormone deficiency, CHARGE syndromeAD276860
CHSY1Temtamy preaxial brachydactyly syndromeAR616
CIB2Deafness, Usher syndrome type IJAR518
CLDN14DeafnessAR1112
CLIC5DeafnessAR12
CLPPDeafnessAR413
CLRN1Retinitis pigmentosa, Usher sydnrome, type 3AAR2439
COCHDeafnessAD1429
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR2957
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL4A3Alport syndrome, Hematuria, benign familialAD/AR123264
COL4A4Alport syndromeAD/AR110232
COL4A5Alport syndromeXL704992
COL4A6Deafness, with cochlear malformationXL115
COL9A1Stickler syndrome recessive type, Multiple epiphyseal dysplasia type 6 (EDM6)AR96
COL9A2Stickler syndrome, Multiple epiphyseal dysplasia type 2 (EDM2)AD/AR712
COL9A3Multiple epihyseal dysplasia type 3 (EDM3), Stickler syndrome recessive typeAD/AR1014
CRYMDeafnessAD24
DCAF17Woodhouse-Sakati syndromeAR1414
DCDC2Deafness, Nephronophthisis, Sclerosing cholangitis, neonatalAR139
DFNA5DeafnessAD713
DFNB31Deafness, Usher syndrome, type 2DAR1231
DFNB59DeafnessAR1220
DIABLODeafnessAD12
DIAPH1Deafness, Seizures, cortical blindness, and microcephaly syndrome (SCBMS)AD/AR1015
DIAPH3Non-syndromic sensorineural deafnessAD19
DLX5Split-hand/foot malformation with sensorineural hearing lossAR39
DMXL2Deafness, autosomal dominant, 71AR26
DNMT1Neuropathy, hereditary sensory, Cerebellar ataxia, deafness, and narcolepsyAD920
DSPPDentin dysplasia, Dentinogenesis imperfecta, Deafness, with dentinogenesis imperfectaAD1153
EDN3Hirschsprung disease, Central hypoventilation syndrome, congenital, Waardenburg syndromeAD/AR721
EDNRBHirschsprung disease, ABCD syndrome, Waardenburg syndromeAD/AR1266
EIF3FIntellectual disabilityAR
ELMOD3DeafnessAR12
EPS8DeafnessAR22
EPS8L2Deafness, autosomal recessive 106AR22
ESPN*DeafnessAD/AR1215
ESRRBDeafnessAR1219
EYA1Otofaciocervical syndrome, Branchiootic syndrome, Branchiootorenal syndromeAD56218
EYA4Dilated cardiomyopathy (DCM), Deafness, autosomal dominant 10AD1528
FAM136A*Sensorineural hearing lossAD12
FAM65BDeafnessAR12
FDXRAuditory neuropathy and optic atrophyAR519
FGF3Deafness, congenital with inner ear agenesis, microtia, and microdontiaAR1320
FGFR3Lacrimoauriculodentodigital syndrome, Muenke syndrome, Crouzon syndrome with acanthosis nigricans, Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome, Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia type 1, Thanatophoric dysplasia type 2, SADDANAD/AR5477
FITM2Dystonia, DeafnessAR1
FOXI1Pendred syndrome, Enlarged vestibular aqueductAR111
GATA3Hypomagnesemia, renalAD2286
GIPC3DeafnessAR920
GJA1*Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3AD/AR31107
GJB2Deafness, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndromeAD/AR/Digenic133405
GJB3Deafness, Erythrokeratodermia variabilis et progressiva 1, Deafness, autosomal dominant 2BAD/AR1140
GJB6Deafness, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston syndrome)AD/AR1033
GPSM2Deafness, Chudley-McCullough syndromeAR1811
GRHL2Ectodermal dysplasia/short stature syndrome, Deafness, autosomal dominant 28, Corneal dystrophy, posterior polymorphousAD/AR1212
GRXCR1DeafnessAR89
GRXCR2DeafnessAR12
HARSCharcot-Marie-Tooth disease, axonal, type 2W, Usher syndrome, type 3BAR612
HARS2Perrault syndromeAR73
HGFDeafnessAR410
HOMER2DeafnessAD21
HOXB1Facial paresis, hereditary congenitalAR36
HSD17B4Perrault syndrome, D-bifunctional protein deficiencyAR6099
ILDR1DeafnessAR827
KARSCharcot-Marie-Tooth diseaseAR923
KCNE1Long QT syndrome, Jervell and Lange-Nielsen syndromeAD/AR/Digenic1146
KCNJ10Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome), Pendred syndrome, Enlarged vestibular aqueductAR/Digenic1329
KCNQ1Short QT syndrome, Long QT syndrome, Atrial fibrillation, Jervell and Lange-Nielsen syndromeAD/AR/Digenic298631
KCNQ4DeafnessAD2837
KITGastrointestinal stromal tumor, PiebaldismAD79116
LARS2Perrault syndrome, Hydrops, lactic acidosis, and sideroblastic anemia (HLASA)AR1414
LHFPL5DeafnessAR710
LMX1AHearing lossAD/AR14
LOXHD1DeafnessAD/AR2660
LRP2Donnai-Barrow syndrome, Faciooculoacousticorenal syndromeAR2438
LRTOMTDeafnessAR717
MAN2B1Mannosidosis, alpha B, lysosomalAR63149
MANBAMannosidosis, lysosomalAR1619
MARVELD2DeafnessAR917
METDeafness, Renal cell carcinoma, papillary, Osteofibrous dysplasia, susceptibility toAD/AR2034
MGPKeutel syndromeAR58
MIR96DeafnessAD24
MITFTietz albinism-deafness syndrome, Waardenburg syndrome, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)AD/AR3258
MPZL2Sensorineural hearing lossAR4
MSRB3DeafnessAR52
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
MT-TL1Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
MYH14Deafness, Peripheral neuropathy, myopathy, hoarseness, and hearing lossAD744
MYH9Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, Deafness, autosomal dominant 17AD25117
MYO15ADeafnessAR97235
MYO3ADeafnessAR922
MYO6Deafness, Deafness, autosomal dominant, 22AD/AR2468
MYO7ADeafness, Deafness, autosomal dominant 11, Usher syndrome, type IAD/AR239515
NARS2Combined oxidative phosphorylation deficiencyAR1212
NDPExudative vitreoretinopathy, Norrie diseaseXL31167
NLRP3Neonatal onset multisystem inflammatory disease (NOMID), Muckle-Wells syndrome, Chronic infantile neurologic cutaneous articular (CINCA) syndrome, Familial cold-induced autoinflammatory syndrome 1AD20136
OSBPL2DeafnessAD23
OTOA#*DeafnessAR1928
OTOFNeuropathy, DeafnessAR107163
OTOGDeafnessAR183
OTOGLDeafnessAR2623
P2RX2DeafnessAD24
PAX3Craniofacial-deafness-hand syndrome, Waardenburg syndromeAD/AR54149
PCDH15Deafness, Usher syndrome, type 1DAR/Digenic113118
PDE1CHearing lossAD22
PDZD7#Deafness, autosomal recessiveAR1119
PEX1Heimler syndrome, Peroxisome biogenesis factor disorder 1A, Peroxisome biogenesis factor disorder 1BAR112134
PEX26Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorderAR1327
PEX6Heimler syndrome, Peroxisome biogenesis disorder 4A, Peroxisome biogenesis disorder 4BAR58107
PISDAR
PNPT1*Deafness, Combined oxidative phosphorylation deficiency, 13AR1113
POLR1C#Treacher Collins syndromeAR1721
POLR1DTreacher Collins syndromeAD/AR926
POU3F4DeafnessXL2580
POU4F3DeafnessAD933
PRPS1*Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1XL2732
RDX*DeafnessAR610
RMND1*Combined oxidative phosphorylation deficiencyAR1715
RPS6KA3Coffin-Lowry syndrome, Mental retardationXL65171
S1PR2Deafness, autosomal recessive 68AR23
SALL1*Townes-Brocks syndrome 1AD3187
SALL4Acro-renal-ocular syndrome, Duane-radial ray/Okohiro syndromeAD2156
SEMA3ECHARGE syndromeAD14
SERPINB6DeafnessAR23
SIX1Deafness, Branchiootic syndrome, Branchiootorenal syndromeAD1119
SIX5Branchiootorenal syndromeAD310
SLC17A8DeafnessAD18
SLC19A2Thiamine-responsive megaloblastic anemia syndromeAR1451
SLC22A4Hearing lossAR2
SLC26A4Deafness, Pendred syndrome, Enlarged vestibular aqueductAR181548
SLC26A5DeafnessAR27
SLC29A3Histiocytosis-lymphadenopathy plus syndrome, DysosteosclerosisAR1725
SLC33A1*Congenital cataracts, hearing loss, and neurodegeneration, Spastic paraplegia 42, autosomal dominantAD/AR67
SLC52A2Brown-Vialetto-Van Laere syndromeAR2725
SLC52A3Fazio-Londe disease, Brown-Vialetto-Van Laere syndromeAR3042
SLITRK6Deafness and myopiaAR35
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasiaAD179143
SMPXDeafnessXL814
SNAI2Waardenburg syndrome, PiebaldismAR24
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, Kallmann syndromeAD56148
SPATA5Developmental delay with or without dysmorphic facies and autism, Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS)AR2727
STAG2Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderXL614
STRC#*DeafnessAR3185
SUCLA2Mitochondrial DNA depletion syndromeAR929
SUCLG1Mitochondrial DNA depletion syndromeAR1228
SYNE4DeafnessAR62
SYT2*Myasthenic syndrome, congenital 7, presynapticAD33
TBC1D24Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome, Deafness, autosomal dominant, 65, Myoclonic epilepsy, infantile, familial, Epileptic encephalopathy, early infantile, 16, Deafness, autosomal recessive 86AD/AR4355
TBL1XCongenital hypothyroidism, Hearing loss28
TCOF1Treacher Collins syndromeAD50330
TECTADeafnessAD/AR36120
TFAP2ABranchiooculofacial sydromeAD2342
TIMM8A*Mohr-Tranebjaerg syndrome, Jensen syndrome, Opticoacoustic nerve atrophy with dementiaXL1121
TJP2Cholestasis, progressive familial intrahepatic, Hypercholanemia, familial, Deafness, autosomal dominant 51AD/AR2527
TMC1Deafness, Deafness, autosomal dominant 36AD/AR3391
TMEM132EHearing lossAR1
TMIEDeafnessAR910
TMPRSS3DeafnessAR2582
TNCDeafnessAD36
TPRN#DeafnessAR612
TRIOBPDeafnessAR2240
TRMULiver failure, infantile, Reversible infantile respiratory chain deficiencyAR2021
TSHZ1Aural atresia, congenitalAD24
TSPEARDeafnessAR27
TUBB4BLeber congenital amaurosis, Hearing lossAD23
TYR*Albinism, oculocutaneousAR77441
USH1CDeafness, Usher syndrome, type ICAR4551
USH1GUsher syndrome, type 1GAR1332
USH2ARetinitis pigmentosa 39, Usher syndrome, type 2AAR4011169
VCANWagner diseaseAD1119
WBP2Deafness, autosomal recessive 107AR33
WFS1Wolfram syndrome, Deafness, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41AD/AR69362
XYLT2Primrose syndromeAR210
GeneAssociated phenotypesInheritanceClinVarHGMD
ACVRL1Hereditary hemorrhagic telangiectasiaAD140430
ENGJuvenile polyposis syndrome, Hereditary hemorrhagic telangiectasiaAD158491
EPHB4Hydrops fetalis, nonimmune, and/or atrial septal defect, Capillary malformation-arteriovenous malformationAD151
GDF2Hereditary hemorrhagic telangiectasia, type 5, Pulmonary arterial hypertension (PAH)AD317
RASA1Parkes Weber syndrome, Capillary malformation-arteriovenous malformation, Spinal arteriovenous anomaliesAD55132
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasiaAD179143
GeneAssociated phenotypesInheritanceClinVarHGMD
ACTG1*Deafness, Baraitser-Winter syndromeAD2747
ADCY1DeafnessAR11
ATP2B2Sensorineural hearing lossAD37
BDP1*Hearing lossAD/AR11
BSNDSensorineural deafness with mild renal dysfunction, Bartter syndromeAR1020
CABP2DeafnessAR16
CCDC50DeafnessAD14
CD164Deafness, autosomal dominant 66AD11
CDC14ADeafness, autosomal recessive 105AR79
CDH23Deafness, Usher syndrome, type 1DAR94358
CEACAM16DeafnessAD/AR44
CIB2Deafness, Usher syndrome type IJAR518
CLDN14DeafnessAR1112
CLIC5DeafnessAR12
COCHDeafnessAD1429
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR2957
COL4A6Deafness, with cochlear malformationXL115
CRYMDeafnessAD24
DCDC2Deafness, Nephronophthisis, Sclerosing cholangitis, neonatalAR139
DFNA5DeafnessAD713
DFNB31Deafness, Usher syndrome, type 2DAR1231
DFNB59DeafnessAR1220
DIABLODeafnessAD12
DIAPH1Deafness, Seizures, cortical blindness, and microcephaly syndrome (SCBMS)AD/AR1015
DIAPH3Non-syndromic sensorineural deafnessAD19
DMXL2Deafness, autosomal dominant, 71AR26
DSPPDentin dysplasia, Dentinogenesis imperfecta, Deafness, with dentinogenesis imperfectaAD1153
ELMOD3DeafnessAR12
EPS8DeafnessAR22
EPS8L2Deafness, autosomal recessive 106AR22
ESPN*DeafnessAD/AR1215
ESRRBDeafnessAR1219
EYA4Dilated cardiomyopathy (DCM), Deafness, autosomal dominant 10AD1528
FAM65BDeafnessAR12
GIPC3DeafnessAR920
GJB2Deafness, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndromeAD/AR/Digenic133405
GJB3Deafness, Erythrokeratodermia variabilis et progressiva 1, Deafness, autosomal dominant 2BAD/AR1140
GJB6Deafness, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston syndrome)AD/AR1033
GPSM2Deafness, Chudley-McCullough syndromeAR1811
GRHL2Ectodermal dysplasia/short stature syndrome, Deafness, autosomal dominant 28, Corneal dystrophy, posterior polymorphousAD/AR1212
GRXCR1DeafnessAR89
GRXCR2DeafnessAR12
HGFDeafnessAR410
HOMER2DeafnessAD21
ILDR1DeafnessAR827
KARSCharcot-Marie-Tooth diseaseAR923
KCNQ4DeafnessAD2837
LHFPL5DeafnessAR710
LMX1AHearing lossAD/AR14
LOXHD1DeafnessAD/AR2660
LRTOMTDeafnessAR717
MARVELD2DeafnessAR917
METDeafness, Renal cell carcinoma, papillary, Osteofibrous dysplasia, susceptibility toAD/AR2034
MIR96DeafnessAD24
MPZL2Sensorineural hearing lossAR4
MSRB3DeafnessAR52
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
MT-TL1Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
MYH14Deafness, Peripheral neuropathy, myopathy, hoarseness, and hearing lossAD744
MYH9Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, Deafness, autosomal dominant 17AD25117
MYO15ADeafnessAR97235
MYO3ADeafnessAR922
MYO6Deafness, Deafness, autosomal dominant, 22AD/AR2468
MYO7ADeafness, Deafness, autosomal dominant 11, Usher syndrome, type IAD/AR239515
NARS2Combined oxidative phosphorylation deficiencyAR1212
OSBPL2DeafnessAD23
OTOA#*DeafnessAR1928
OTOFNeuropathy, DeafnessAR107163
OTOGDeafnessAR183
OTOGLDeafnessAR2623
P2RX2DeafnessAD24
PCDH15Deafness, Usher syndrome, type 1DAR/Digenic113118
PDE1CHearing lossAD22
PNPT1*Deafness, Combined oxidative phosphorylation deficiency, 13AR1113
POU3F4DeafnessXL2580
POU4F3DeafnessAD933
PRPS1*Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1XL2732
RDX*DeafnessAR610
S1PR2Deafness, autosomal recessive 68AR23
SERPINB6DeafnessAR23
SIX1Deafness, Branchiootic syndrome, Branchiootorenal syndromeAD1119
SLC17A8DeafnessAD18
SLC22A4Hearing lossAR2
SLC26A4Deafness, Pendred syndrome, Enlarged vestibular aqueductAR181548
SLC26A5DeafnessAR27
SLITRK6Deafness and myopiaAR35
SMPXDeafnessXL814
STRC#*DeafnessAR3185
SYNE4DeafnessAR62
TBC1D24Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome, Deafness, autosomal dominant, 65, Myoclonic epilepsy, infantile, familial, Epileptic encephalopathy, early infantile, 16, Deafness, autosomal recessive 86AD/AR4355
TECTADeafnessAD/AR36120
TJP2Cholestasis, progressive familial intrahepatic, Hypercholanemia, familial, Deafness, autosomal dominant 51AD/AR2527
TMC1Deafness, Deafness, autosomal dominant 36AD/AR3391
TMEM132EHearing lossAR1
TMIEDeafnessAR910
TMPRSS3DeafnessAR2582
TNCDeafnessAD36
TPRN#DeafnessAR612
TRIOBPDeafnessAR2240
TSPEARDeafnessAR27
USH1CDeafness, Usher syndrome, type ICAR4551
WBP2Deafness, autosomal recessive 107AR33
WFS1Wolfram syndrome, Deafness, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41AD/AR69362
GeneAssociated phenotypesInheritanceClinVarHGMD
FOXI1Pendred syndrome, Enlarged vestibular aqueductAR111
KCNJ10Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome), Pendred syndrome, Enlarged vestibular aqueductAR/Digenic1329
SLC26A4Deafness, Pendred syndrome, Enlarged vestibular aqueductAR181548
GeneAssociated phenotypesInheritanceClinVarHGMD
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR2957
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL9A1Stickler syndrome recessive type, Multiple epiphyseal dysplasia type 6 (EDM6)AR96
COL9A2Stickler syndrome, Multiple epiphyseal dysplasia type 2 (EDM2)AD/AR712
COL9A3Multiple epihyseal dysplasia type 3 (EDM3), Stickler syndrome recessive typeAD/AR1014
LRP2Donnai-Barrow syndrome, Faciooculoacousticorenal syndromeAR2438
VCANWagner diseaseAD1119
GeneAssociated phenotypesInheritanceClinVarHGMD
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataractAR1620
ACTG1*Deafness, Baraitser-Winter syndromeAD2747
ADGRV1Febrile seizures, familial, 4, Usher syndrome, type IICAR71236
ALMS1*Alström syndromeAR197302
ANKHCalcium pyrophosphate deposition disease (familial chondrocalcinosis type 2), Craniometaphyseal dysplasia autosomal dominant typeAD1320
ARSGUsher syndrome, type IVAR11
ATP6V1B1Renal tubular acidosis with deafnessAR1556
ATP6V1B2Deafness, congenital, with onychodystrophy, autosomal dominant, Zimmermann-Laband syndrome 2AD63
BCS1LBjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1AR4237
BSNDSensorineural deafness with mild renal dysfunction, Bartter syndromeAR1020
BTDBiotinidase deficiencyAR170247
C10ORF2Perrault syndrome, Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3AR3780
CACNA1DPrimary aldosteronism, seizures, and neurologic abnormalities, Sinoatrial node dysfunction and deafnessAD/AR78
CD151Raph blood group, Nephropathy with pretibial epidermolysis bullosa and deafnessAR13
CDH23Deafness, Usher syndrome, type 1DAR94358
CDK9AR1
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndromeAD3581
CEP250Cone rod dystrophy and hearing lossAR5
CEP78Cone rod dystrophy and hearing lossAR79
CHD7Isolated gonadotropin-releasing hormone deficiency, CHARGE syndromeAD276860
CHSY1Temtamy preaxial brachydactyly syndromeAR616
CIB2Deafness, Usher syndrome type IJAR518
CLPPDeafnessAR413
CLRN1Retinitis pigmentosa, Usher sydnrome, type 3AAR2439
COL11A1Marshall syndrome, Fibrochondrogenesis, Stickler syndrome type 2AD/AR3494
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR2957
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1AD180561
COL4A3Alport syndrome, Hematuria, benign familialAD/AR123264
COL4A4Alport syndromeAD/AR110232
COL4A5Alport syndromeXL704992
COL4A6Deafness, with cochlear malformationXL115
COL9A1Stickler syndrome recessive type, Multiple epiphyseal dysplasia type 6 (EDM6)AR96
COL9A2Stickler syndrome, Multiple epiphyseal dysplasia type 2 (EDM2)AD/AR712
COL9A3Multiple epihyseal dysplasia type 3 (EDM3), Stickler syndrome recessive typeAD/AR1014
DCAF17Woodhouse-Sakati syndromeAR1414
DFNB31Deafness, Usher syndrome, type 2DAR1231
DLX5Split-hand/foot malformation with sensorineural hearing lossAR39
DNMT1Neuropathy, hereditary sensory, Cerebellar ataxia, deafness, and narcolepsyAD920
EDN3Hirschsprung disease, Central hypoventilation syndrome, congenital, Waardenburg syndromeAD/AR721
EDNRBHirschsprung disease, ABCD syndrome, Waardenburg syndromeAD/AR1266
EIF3FIntellectual disabilityAR
ESPN*DeafnessAD/AR1215
EYA1Otofaciocervical syndrome, Branchiootic syndrome, Branchiootorenal syndromeAD56218
FDXRAuditory neuropathy and optic atrophyAR519
FGF3Deafness, congenital with inner ear agenesis, microtia, and microdontiaAR1320
FITM2Dystonia, DeafnessAR1
FOXI1Pendred syndrome, Enlarged vestibular aqueductAR111
GATA3Hypomagnesemia, renalAD2286
GJA1*Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3AD/AR31107
HARSCharcot-Marie-Tooth disease, axonal, type 2W, Usher syndrome, type 3BAR612
HARS2Perrault syndromeAR73
HOXB1Facial paresis, hereditary congenitalAR36
KCNE1Long QT syndrome, Jervell and Lange-Nielsen syndromeAD/AR/Digenic1146
KCNJ10Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome), Pendred syndrome, Enlarged vestibular aqueductAR/Digenic1329
KCNQ1Short QT syndrome, Long QT syndrome, Atrial fibrillation, Jervell and Lange-Nielsen syndromeAD/AR/Digenic298631
KITGastrointestinal stromal tumor, PiebaldismAD79116
LARS2Perrault syndrome, Hydrops, lactic acidosis, and sideroblastic anemia (HLASA)AR1414
LRP2Donnai-Barrow syndrome, Faciooculoacousticorenal syndromeAR2438
MAN2B1Mannosidosis, alpha B, lysosomalAR63149
MANBAMannosidosis, lysosomalAR1619
MGPKeutel syndromeAR58
MITFTietz albinism-deafness syndrome, Waardenburg syndrome, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)AD/AR3258
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
MT-TL1Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
MYH9Sebastian syndrome, May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, Deafness, autosomal dominant 17AD25117
MYO7ADeafness, Deafness, autosomal dominant 11, Usher syndrome, type IAD/AR239515
NDPExudative vitreoretinopathy, Norrie diseaseXL31167
NLRP3Neonatal onset multisystem inflammatory disease (NOMID), Muckle-Wells syndrome, Chronic infantile neurologic cutaneous articular (CINCA) syndrome, Familial cold-induced autoinflammatory syndrome 1AD20136
PAX3Craniofacial-deafness-hand syndrome, Waardenburg syndromeAD/AR54149
PCDH15Deafness, Usher syndrome, type 1DAR/Digenic113118
PDZD7#Deafness, autosomal recessiveAR1119
PEX1Heimler syndrome, Peroxisome biogenesis factor disorder 1A, Peroxisome biogenesis factor disorder 1BAR112134
PEX26Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorderAR1327
PEX6Heimler syndrome, Peroxisome biogenesis disorder 4A, Peroxisome biogenesis disorder 4BAR58107
PISDAR
POLR1C#Treacher Collins syndromeAR1721
POLR1DTreacher Collins syndromeAD/AR926
PRPS1*Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1XL2732
SALL1*Townes-Brocks syndrome 1AD3187
SEMA3ECHARGE syndromeAD14
SIX1Deafness, Branchiootic syndrome, Branchiootorenal syndromeAD1119
SIX5Branchiootorenal syndromeAD310
SLC19A2Thiamine-responsive megaloblastic anemia syndromeAR1451
SLC26A4Deafness, Pendred syndrome, Enlarged vestibular aqueductAR181548
SLC52A2Brown-Vialetto-Van Laere syndromeAR2725
SLC52A3Fazio-Londe disease, Brown-Vialetto-Van Laere syndromeAR3042
SLITRK6Deafness and myopiaAR35
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Polyposis, juvenile intestinal, Myhre dysplasia, Hereditary hemorrhagic telangiectasiaAD179143
SNAI2Waardenburg syndrome, PiebaldismAR24
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, Kallmann syndromeAD56148
TBL1XCongenital hypothyroidism, Hearing loss28
TCOF1Treacher Collins syndromeAD50330
TFAP2ABranchiooculofacial sydromeAD2342
TIMM8A*Mohr-Tranebjaerg syndrome, Jensen syndrome, Opticoacoustic nerve atrophy with dementiaXL1121
TSHZ1Aural atresia, congenitalAD24
TUBB4BLeber congenital amaurosis, Hearing lossAD23
TYR*Albinism, oculocutaneousAR77441
USH1CDeafness, Usher syndrome, type ICAR4551
USH1GUsher syndrome, type 1GAR1332
USH2ARetinitis pigmentosa 39, Usher syndrome, type 2AAR4011169
VCANWagner diseaseAD1119
WFS1Wolfram syndrome, Deafness, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41AD/AR69362
XYLT2Primrose syndromeAR210
GeneAssociated phenotypesInheritanceClinVarHGMD
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataractAR1620
ADGRV1Febrile seizures, familial, 4, Usher syndrome, type IICAR71236
ARSGUsher syndrome, type IVAR11
CDH23Deafness, Usher syndrome, type 1DAR94358
CEP250Cone rod dystrophy and hearing lossAR5
CEP78Cone rod dystrophy and hearing lossAR79
CIB2Deafness, Usher syndrome type IJAR518
CLRN1Retinitis pigmentosa, Usher sydnrome, type 3AAR2439
DFNB31Deafness, Usher syndrome, type 2DAR1231
ESPN*DeafnessAD/AR1215
HARSCharcot-Marie-Tooth disease, axonal, type 2W, Usher syndrome, type 3BAR612
MYO7ADeafness, Deafness, autosomal dominant 11, Usher syndrome, type IAD/AR239515
PCDH15Deafness, Usher syndrome, type 1DAR/Digenic113118
PDZD7#Deafness, autosomal recessiveAR1119
PEX1Heimler syndrome, Peroxisome biogenesis factor disorder 1A, Peroxisome biogenesis factor disorder 1BAR112134
PEX6Heimler syndrome, Peroxisome biogenesis disorder 4A, Peroxisome biogenesis disorder 4BAR58107
PRPS1*Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1XL2732
TUBB4BLeber congenital amaurosis, Hearing lossAD23
USH1CDeafness, Usher syndrome, type ICAR4551
USH1GUsher syndrome, type 1GAR1332
USH2ARetinitis pigmentosa 39, Usher syndrome, type 2AAR4011169
GeneAssociated phenotypesInheritanceClinVarHGMD
EDN3Hirschsprung disease, Central hypoventilation syndrome, congenital, Waardenburg syndromeAD/AR721
EDNRBHirschsprung disease, ABCD syndrome, Waardenburg syndromeAD/AR1266
KITGastrointestinal stromal tumor, PiebaldismAD79116
MITFTietz albinism-deafness syndrome, Waardenburg syndrome, Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD)AD/AR3258
PAX3Craniofacial-deafness-hand syndrome, Waardenburg syndromeAD/AR54149
SNAI2Waardenburg syndrome, PiebaldismAR24
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, Kallmann syndromeAD56148