Gene | OMIM Diseases | Inheritance* | % Gene Coverage (20x) | HGMD** |
ABCC1 | AutosomalDominant Deafness | AD | 98.02 | 5 of 5 |
ABHD12 | Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract | AR | 95.77 | 21 of 21 |
ACTB | Baraitser-Winter Syndrome, Becker Nevus Syndrome, Developmental Malformations- Deafness- Dystonia Syndrome | AD | 100 | 40 of 40 |
ACTG1 | Autosomal Dominant Deafness, Baraitser- Winter Cerebrofrontofacial Syndrome | AD | 98.59 | 55 of 55 |
ADCY1 | Autosomal Recessive Deafness | AR | 96.91 | 1 of 1 |
ADGRV1 | Familial Febrile Convulsions, Usher Syndrome | AD,AR | 97.53 | – |
AIFM1 | Combined Oxidative Phosphorylation Deficiency, Cowchock Syndrome, X-linked Deafness, Spondyloe- pimetaphyseal Dysplasia, Severe X- Mitochondrial Encephalomyopathy, X-linked Charcot- Marie-Tooth Disease | X,XR,G | 100 | – |
ANKH | Craniometaphyseal Dysplasia, Familial Calcium Pyrophosphate Deposition | AD | 100 | 19 of 19 |
AP1B1 | Ichthyosiform Erythroderma, Corneal Involvement, And Deafness, Mednik Syndrome | AR | 100 | 5 of 5 |
AP1S1 | Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma, Mednik Syndrome | AR | 99.98 | 2 of 2 |
ATP1A3 | Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss | AD | 99.94 | 138 of 138 |
ATP2B2 | AutosomalRecessive Deafness | AR | 100 | 12 of 12 |
ATP6V0A4 | Distal Renal Tubular Acidosis, With Or Without Sensorineural Hearing Loss | AR | 100 | 85 of 85 |
ATP6V1B1 | Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness | AR | 100 | 62 of 62 |
ATP6V1B2 | Autosomal Dominant Deafness-Onychodystrophy Syndrome, Zimmermann- Laband Syndrome | AD | 100 | 5 of 5 |
BCAP31 | Deafness, Dystonia, And Cerebral Hypomyelination, Severe Motor And Intellectual Disabilities- Sensorineural Deafness-Dystonia Syndrome | X,XR,G | 100 | – |
BCS1L | BjornstadSyndrome, GracileSyndrome, Leigh Syndrome, MitochondrialComplex III Deficiency | AR,MI | 99.96 | 40 of 42 |
BDP1 | Autosomal Recessive Deafness | AR | 99.3 | 1 of 1 |
BSND | Bartter Syndrome, Infantile, With Sensorineural Deafness | AR | 99.95 | 21 of 21 |
BTD | BiotinidaseDeficiency MultipleCarboxylase Deficiency, Late-Onset, BiotinidaseDeficiency | AR | 100 | 261 of 262 |
CABP2 | Autosomal Recessive Deafness | AR | 99.95 | 7 of 7 |
CACNA1D | Primary Aldosteronism, Seizures, And Neurologic Abnormalities, Sinoatrial Node Dysfunction And Deafness | AD,AR | 100 | 18 of 18 |
CATSPER2 | Sensorineural Deafness And Male Infertility | AR | 99.87 | 1 of 1 |
CCDC50 | Autosomal Dominant Deafness | AD | 99.98 | 5 of 5 |
CD151 | Nephropathy With Pretibial Epidermolysis Bullosa And Deafness | AR | 100 | 3 of 3 |
CD164 | Autosomal DominantDeafness | AD | 100 | 1 of 1 |
CDC14A | Autosomal RecessiveDeafness | AR | 99.76 | 11 of 11 |
CDH23 | Autosomal Recessive Deafness, Usher Syndrome | AD,AR | 98 | 400 of 403 |
CDKN1C | Beckwith- Wiedemann Syndrome, Image Syndrome | AD | 73.58 | 55 of 76 |
CEACAM16 | Autosomal Dominant Deafness, Autosomal Recessive Deafness | AD,AR | 99.81 | 7 of 7 |
CEP250 | Cone-Rod Dystrophy And Hearing Loss | AR | 99.98 | 7 of 7 |
CEP78 | Cone-Rod Dystrophy And Hearing Loss, Usher Syndrome | AR | 99.44 | 9 of 10 |
CHD7 | Charge Syndrome, Charge Syndrome, Omenn Syndrome | AD | 96.25 | 823 of 896 |
CHSY1 | TemtamyPreaxial Brachydactyly Syndrome | AR | 96.64 | 13 of 16 |
CIB2 | Autosomal Recessive Deafness, Usher Syndrome | AR | 99.95 | 16 of 17 |
CISD2 | Wolfram Syndrome | AR | 92.92 | 5 of 5 |
CLDN14 | AutosomalRecessive Deafness | AR | 100 | 17 of 17 |
CLIC5 | AutosomalRecessive Deafness | AR | 99.91 | 2 of 2 |
CLPP | Perrault Syndrome | AR | 99.91 | 11 of 11 |
CLRN1 | Retinitis Pigmentosa, Usher Syndrome | AD,AR,X,XR,G | 99.99 | 40 of 41 |
COCH | Autosomal Dominant Deafness, Autosomal Recessive Deafness | AD,AR | 99.92 | 31 of 31 |
COL11A1 | Autosomal Dominant Deafness, Marshall Syndrome, Stickler Syndrome | AD,AR | 100 | 104 of 106 |
COL11A2 | Autosomal Dominant Deafness, Nonsyndromic Sensorineural Deafness, Stickler Syndrome, | AD,AR | 99.98 | 58 of 58 |
COL2A1 | Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness, Legg-Calve-Perthes Disease Stickler Syndrome | AD,MU | 100 | 583 of 583 |
COL4A3 | Alport Syndrome | AD,AR | 100 | 277 of 280 |
COL4A4 | Alport Syndrome | AD,AR | 99.95 | 247 of 251 |
COL4A5 | Alport Syndrome | X,XD,G | 99.88 | – |
COL4A6 | X-linked Deafness | X,XR,G | 98.72 | – |
COL9A1 | Stickler Syndrome, Multiple Epiphyseal Dysplasia Due To Collagen Anomaly | AD,AR | 99.98 | 8 of 8 |
COL9A2 | Stickler Syndrome, Multiple Epiphyseal Dysplasia Due To Collagen Anomaly | AD,AR | 100 | 16 of 16 |
COL9A3 | Stickler Syndrome, Multiple Epiphyseal Dysplasia Due To Collagen Anomaly | AD | 99.98 | 20 of 20 |
CRYM | AutosomalDominant Deafness | AD | 96 | 4 of 4 |
DACT1 | Townes-Brocks Syndrome, Craniorachischisis | AD | 98.12 | 8 of 9 |
DCAF17 | Woodhouse- SakatiSyndrome | AR | 98.77 | 21 of 21 |
DCDC2 | Autosomal Recessive Deafness | AR | 99.83 | 8 of 8 |
DIABLO | Autosomal Dominant Deafness | AD | 100 | 2 of 2 |
DIAPH1 | Autosomal Dominant Nonsyndromic Sensorineural Deafness | AD,AR | 99.94 | 15 of 15 |
DIAPH3 | Auditory Neuropathy | AD | 99.96 | 7 of 9 |
DLX5 | Split-Hand/Foot Malformation With Sensorineural Hearing Loss | AD,AR | 99.98 | 8 of 8 |
DMXL2 | Autosomal Dominant Deafness | AD,AR | 99.83 | 19 of 23 |
DNAJC3 | Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus | AR | 99.75 | 1 of 4 |
DNMT1 | Cerebellar Ataxia, Deafness, And Narcolepsy, Hereditary Sensory Neuropathy | AD | 97.87 | 30 of 30 |
DSPP | Autosomal Dominant Deafness | AD | 99.4 | 56 of 56 |
EDN3 | Waardenburg Syndrome, OndineSyndrome | AD,AR | 100 | 20 of 22 |
EDNRB | Abcd Syndrome, Waardenburg-Shah Syndrome, Waardenburg Syndrome | AD,AR | 99.55 | 70 of 72 |
EEF1AKNMT | Autosomal Recessive Deafness | AD | 99.48 | – |
ELMOD3 | AutosomalRecessive Deafness | AR | 99.97 | 2 of 2 |
EPS8 | AutosomalRecessive Deafnes | AR | 99.97 | 3 of 3 |
EPS8L2 | AutosomalRecessive Deafness | AR | 99.27 | 3 of 3 |
ESPN | Autosomal Recessive Deafness With Or Without Vestibular Involvement, Usher Syndrome | AR | 98.22 | 22 of 22 |
ESRP1 | AutosomalRecessive Deafness | AR | 99.95 | 2 of 2 |
ESRRB | AutosomalRecessive Deafness | AR | 100 | 22 of 22 |
EXOSC2 | Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies; | AR | 100 | 3 of 3 |
EYA1 | Branchiootic Syndrome, Branchiootorenal Syndrome, Otofaciocervical Syndrome | AD | 100 | 197 of 199 |
EYA4 | Autosomal Dominant Deafness Nonsyndromic, Sensorineural Deafness With Dilated Cardiomyopathy | AD | 100 | 32 of 32 |
FDXR | Auditory Neuropathy And Optic Atrophy, Optic Atrophy-Ataxia- Peripheral Neuropathy- Global Developmental Delay Syndrome | AR | 99.93 | 23 of 23 |
FGF3 | Congenital Deafness, With Inner Ear Agenesis, Microtia, And Microdontia, Deafness With Labyrinthine Aplasia, Microtia, And Microdontia, Otodental Syndrome | AR | 99.81 | 18 of 18 |
FGF9 | Multiple Synostoses Syndrome | AD | 100 | 2 of 2 |
FGFR1 | Hartsfield Syndrome, Jackson-Weiss Syndrome, Pfeiffer Syndrome, Septo-Optic Dysplasia Spectrum | AD | 100 | 279 of 280 |
FGFR2 | Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis, Apert Syndrome, Crouzon Syndrome, Jackson-Weiss Syndrome, Lacrimoauriculo- dentodigital Syndrome, Saethre-Chotzen Syndrome | AD | 98 | 140 of 143 |
FGFR3 | Camptodactyly, Tall Stature, And Hearing Loss Syndrome, Muenke Syndrome | AD,AR | 99.89 | 77 of 78 |
FKBP14 | Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy,and Hearing Loss | AR | 99.98 | 7 of 8 |
FOXI1 | Enlarged Vestibular Aqueduct, Pendred Syndrome | AR | 100 | 11 of 11 |
GAB1 | Autosomal Recessive Deafness | AR | 99.84 | 4 of 5 |
GATA2 | Deafness-Lymphedema- LeukemiaSyndrome | AD | 100 | 137 of 142 |
GATA3 | Hypoparathyroidism, Sensorineural Deafness, And Renal Disease | AD | 100 | 81 of 81 |
GDF5 | MultipleSynostoses Syndrome | AD,AR | 99.48 | 48 of 51 |
GFER | Mitochondrial Progressive Myopathy With Congenital Cataract, Hearing Loss, And Developmental Delay | AR | 99.89 | 6 of 6 |
GIPC3 | Autosomal Recessive Deafness | AR | 92.04 | 21 of 22 |
GJA1 | Oculodentodigital Dysplasia, Craniometaphyseal Dysplasia | AD,AR,MU,O | 100 | 119 of 119 |
GJB2 | Autosomal Dominant Nonsyndromic Sensorineural Deafness, Autosomal Recessive Deafness, Congenital Deafness With Keratopachydermia And Constrictions Offingers And Toes, Palmoplantar Keratoderma- Deafness Syndrome | AD,AR,X,XR,MU,D,G | 99.89 | 413 of 419 |
GJB3 | Autosomal Dominant Deafness, Autosomal Recessive Deafness | AD,AR,MU,D | 100 | 39 of 39 |
GJB6 | Autosomal Dominant Deafness, Autosomal Recessive Deafness, Kid Syndrome | AD,AR,X,XR,MU,D,G | 99.89 | 28 of 28 |
GPRASP2 | X-linkedDeafness | X,XR,G | 92.99 | – |
GPSM2 | Chudley-Mccullough Syndrome | AR | 100 | 13 of 13 |
GRAP | AutosomalRecessive Deafness | AR | 65.67 | 1 of 1 |
GRHL2 | Corneal Dystrophy, Posterior Polymorphous, Autosomal Dominant Nonsyndromic Sensorineural Deafnes | AD,AR | 100 | 8 of 11 |
GRXCR1 | Autosomal Recessive Deafness | AR | 100 | 10 of 10 |
GRXCR2 | AutosomalRecessive Deafness, | AR | 99.94 | 2 of 2 |
GSDME | AutosomalDominant Nonsyndromic Sensorineural | AD | 100 | – |
HARS1 | Charcot-Marie- Tooth Disease, Usher Syndrome | AD,AR | 100 | – |
HARS2 | Perrault Syndrome | AR | 100 | 3 of 3 |
HGF | Congenital Neurosensory Autosomal Recessive Deafness | AR | 100 | 18 of 20 |
HOMER2 | AutosomalDominant Deafness | AD | 99.98 | 2 of 2 |
HOXB1 | Facial Paresis, Hereditary Congenital | AR | 98.81 | 6 of 6 |
HSD17B4 | Perrault Syndrome | AR | 99.52 | 85 of 85 |
IARS2 | Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia | AR | 99.95 | 11 of 11 |
IGF1 | Growth Delay Due To Insulin-like Growth Factor Type 1 Deficiency | AR | 100 | 7 of 8 |
ILDR1 | Autosomal Recessive Neurosensory Deafness | AR | 100 | 31 of 31 |
KARS1 | Charcot-Marie-Tooth Disease, Autosomal Recessive Deafness | AR | 100 | 34 of 34 |
KCNE1 | Jervell And Lange-Nielsen Syndrome, Jervell And Lange-Nielsen Syndrome, Romano-Ward Syndrome | AD,AR | 100 | 53 of 53 |
KCNJ10 | Enlarged Vestibular Aqueduct, Pendred Syndrome, Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, East Syndrome | AR | 93.53 | 27 of 32 |
KCNQ1 | Beckwith-Wiedemann Syndrome, Jervell And Lange-Nielsen Syndrome, Romano- Ward Syndrome | AD,AR | 93.23 | 600 of 624 |
KCNQ4 | AutosomalDominant Deafness | AD | 93.09 | 45 of 46 |
KIT | Mast Cell Disease, Systemic Mastocytosis With Associated Hematologic Neoplasm | AD | 100 | 112 of 112 |
KITLG | Autosomal Dominant Deafness , Waardenburg Syndrome | AD | 99.93 | 10 of 10 |
LARS2 | Hydrops, Lactic Acidosis, And Sideroblastic Anemia, Perrault Syndrome | AR | 99.99 | 20 of 20 |
LHFPL5 | AutosomalRecessive Deafness | AR | 100 | 17 of 17 |
LHX3 | Sensorineural Deafness, With Pituitary Dwarfism, Hypothyroidism | AR | 99.97 | 18 of 19 |
LMX1A | Autosomal Dominant Nonsyndromic Sensorineural Deafness | AD | 100 | 4 of 4 |
LOXHD1 | AutosomalRecessive Deafness | AR | 99.98 | 97 of 97 |
LRP2 | Donnai-Barrow Syndrome | AR | 99.99 | 58 of 58 |
LRTOMT | AutosomalRecessive Deafness | AR | 94.7 | 20 of 21 |
MAF | Ayme-Gripp Syndrome, Cataract-Microcornea Syndrome | AD | 75.14 | 23 of 23 |
MAFB | Duane Retraction Syndrome With Or Without Deafness | AD | 98.63 | 24 of 24 |
MAN2B1 | Alpha-Mannosidosis, InfantileForm | AR | 100 | 149 of 149 |
MANBA | Beta-Mannosidosis | AR | 99.98 | 20 of 20 |
MAP3K7 | Cardiospondy locarpofacial Syndrome, Frontometaphyseal Dysplasia | AD | 99.96 | 13 of 13 |
MARVELD2 | AutosomalRecessive Deafness | AR | 100 | 18 of 19 |
MCM2 | AutosomalDominant Deafness | AD | 100 | 1 of 1 |
MET | AutosomalRecessive Deafness | AD,AR | 99.8 | 41 of 41 |
MGP | KeutelSyndrome | AR | 99.93 | 7 of 7 |
MIR96 | AutosomalDominant Deafness | AD | – | – |
MITF | Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness, TietzSyndrome, Waardenburg Syndrome | AD,AR | 100 | 72 of 72 |
MPZL2 | AutosomalRecessive Deafness | AR | 100 | 4 of 4 |
MSRB3 | AutosomalRecessive Deafness | AR | 100 | 4 of 4 |
MYH14 | Autosomal Dominant Nonsyndromic Sensorineural Deafness, Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss | AD | 99.97 | 52 of 52 |
MYH9 | Autosomal Dominant Nonsyndromic Sensorineural Deafness | AD | 100 | 144 of 145 |
MYO15A | Deafness, Neurosensory, Autosomal Recessive Neurosensory Deafness | AR | 99.12 | 306 of 307 |
MYO3A | AutosomalRecessive Deafness | AR | 99.67 | 21 of 21 |
MYO6 | Autosomal Dominant Deafness, Autosomal Recessive Deafness | AD,AR | 100 | 74 of 75 |
MYO7A | Autosomal Dominant Nonsyndromic Sensorineural Deafness, Autosomal Recessive Neurosensory Deafness, Usher Syndrome | AD,AR | 100 | 579 of 580 |
NARS2 | Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Deafness | AR | 99.63 | 13 of 13 |
NDP | Norrie Disease, Coats Disease | X,XR,G | 100 | NA of NA |
NLRP3 | Cinca Syndrome, Autosomal Dominant Deafness, Muckle- Wells Syndrome, Cinca Syndrome | AD | 100 | 152 of 152 |
NOG | Multiple Synostoses Syndrome, Proximal Symphalangism, Tarsal-Carpal Coalition Syndrome | AD | 99.89 | 61 of 62 |
OPA1 | Behr Syndrome, Mitochondrial DNA Depletion Syndrome, Optic Atrophy With Or Without Deafness | AD,AR | 99.98 | 397 of 402 |
OSBPL2 | AutosomalDominant Deafness | AD | 99.98 | 4 of 4 |
OTOA | AutosomalRecessive Deafness | AR | 79.48 | 34 of 36 |
OTOF | AutosomalRecessive Deafness | AR | 100 | 200 of 200 |
OTOG | Autosomal Recessive Deafness | AR | 99.95 | 11 of 11 |
OTOGL | Autosomal Recessive Deafness | AR | 98.52 | 20 of 24 |
P2RX2 | AutosomalDominant Deafness | AD | 99.14 | 4 of 4 |
PAX3 | Craniofacial-Deafness- Hand Syndrome, Waardenburg Syndrome | AD,AR | 99.98 | 157 of 157 |
PBX1 | Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss | AD | 98 | 18 of 18 |
PCDH15 | Autosomal Recessive Deafness, Usher Syndrome | AR | 99.36 | 152 of 158 |
PDE1C | AutosomalDominant Deafness | AD | 99.98 | 1 of 1 |
PDZD7 | Autosomal Recessive Deafness, Usher Syndrome | AR | 100 | 28 of 28 |
PEX1 | Sensorineural Hearing Loss, With Enamel Hypoplasia And Nail Defects, Zellweger Syndrome, Infantile Refsum Disease | AR | 97.02 | 126 of 134 |
PEX26 | Infantile Refsum Disease , Neonatal Adrenoleukodystrophy, Zellweger Syndrome | AR | 100 | 29 of 29 |
PEX6 | Heimler Syndrome, Autosomal Recessive Spinocerebellar Ataxia- Blindness-Deafness Syndrome, Zellweger Syndrome | AD,AR | 99.94 | 105 of 108 |
PJVK | AutosomalRecessive Deafnes | AR | 100 | – |
PLOD3 | Bone Fragility With Contractures, Arterial Rupture, And Deafness | AR | 100 | 6 of 6 |
PLS1 | AutosomalDominant Deafness | AD | 99.92 | 5 of 5 |
PMP22 | Charcot-Marie-Tooth Disease And Deafness | AD,AR | 97.82 | 110 of 110 |
PNPT1 | Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Deafness | AR | 99.93 | 26 of 26 |
POLD1 | Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome | AD | 100 | 40 of 41 |
POLR1A | Choanal Atresia-Hearing Loss-Cardiac Defects- Craniofacial Dysmorphism Syndrome | AD | 99.8 | 6 of 6 |
POLR1C | Mandibulofacial Dysostosis, Treacher-Collins Syndrome | AR | 99.99 | 35 of 35 |
POLR1D | Treacher Collins Syndrome | AD,AR | 100 | 23 of 23 |
POU3F4 | X-linked Deafness, Xq21 Microdeletion Syndrome | X,XR,G | 99.98 | – |
POU4F3 | AutosomalDominant Deafness | AD | 100 | 36 of 36 |
PPIP5K2 | AutosomalRecessive Deafness | AR | 97.86 | 4 of 4 |
PRPS1 | Arts Syndrome, Charcot-Marie-Tooth Disease, X-linked Deafness, Lethal Ataxia With Deafness And Optic Atrophy | X,XR,G | 100 | – |
PTPRQ | Autosomal Dominant Deafness, Autosomal Recessive Deafness | AD,AR | 94.47 | 33 of 34 |
RDX | AutosomalRecessive Deafness | AR | 99.99 | 14 of 14 |
REST | AutosomalDominant Deafness | AD | 99.83 | 15 of 16 |
RIPOR2 | AutosomalRecessive Deafness | AR | 96.14 | – |
RMND1 | Combined Oxidative Phosphorylation Deficiency | AR | 99.67 | 15 of 16 |
ROR1 | AutosomalRecessive Deafness | AR | 97.2 | 2 of 2 |
RPGR | Retinitis Pigmentosa And Sinorespiratory Infections Withor Without Deafness | X,XR,G | 94 | – |
RPS6KA3 | Coffin-Lowry Syndrome | X,XD,G | 99.95 | – |
S1PR2 | AutosomalRecessive Deafness | AR | 100 | 3 of 3 |
SALL1 | Townes-Brocks Syndrome | AD | 100 | 85 of 86 |
SALL4 | Duane-Radial Ray Syndrome, Ivic Syndrome, Acro-Renal-Ocular Syndrome | AD | 100 | 54 of 54 |
SEMA3E | Charge Syndrome | AD,AR | 99.81 | 6 of 7 |
SERAC1 | 3-a Methylglutaconic Aciduria With Deafness | AR | 99.93 | 53 of 53 |
SERPINB6 | AutosomalRecessive Deafness | AR | 100 | 3 of 3 |
SIX1 | Branchiootic Syndrome, Branchiootorenal Syndrome, Autosomal Dominant Deafness | AD | 73 | 20 of 20 |
SIX5 | Branchiootorenal Syndrome | AD | 93.16 | 11 of 11 |
SLC12A1 | Bartter Syndrome | AR | 99 | 90 of 95 |
SLC17A8 | Deafness, Autosomal DominantDeafness | AD | 100 | 8 of 8 |
SLC19A2 | Thiamine-Responsive Megaloblastic Anemia Syndrome | AR | 99.99 | 67 of 68 |
SLC26A4 | Enlarged Vestibular Aqueduct, Pendred Syndrome | AR | 100 | 577 of 581 |
SLC26A5 | AutosomalRecessive Deafness | AR | 100 | 9 of 9 |
SLC29A3 | Histiocytosis- Lymphadenopathy Plus Syndrome, Dysosteosclerosis | AR | 100 | 32 of 32 |
SLC33A1 | Congenital Cataracts, Hearing Loss, And Neurodegeneration | AD,AR | 99.44 | 9 of 9 |
SLC44A4 | AutosomalDominant Deafness | AD | 99.69 | – |
SLC4A11 | Corneal Endothelial Dystrophy And Perceptive Deafness Syndrome | AD,AR | 99.98 | 108 of 109 |
SLC52A2 | Brown-Vialetto-Van Laere Syndrome, Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome | AR | 100 | 31 of 32 |
SLC52A3 | Progressive Bulbar Palsy With Sensorineural Deafness | AR | 100 | 43 of 43 |
SLITRK6 | Cochlear Deafness With Myopia And Intellectual Impairment | AR | 99.52 | 9 of 9 |
SMAD4 | Myhre Syndrome, Generalized Juvenile Polyposis/Juvenile Polyposis Coli | AD | 99.56 | 136 of 136 |
SMPX | X-linkedDeafness | X,XD,G | 100 | – |
SNAI2 | Waardenburg Syndrome | AD,AR | 99.79 | 1 of 2 |
SOX10 | Peripheral Demyelinating Neuropathy, Waardenburg Syndrome | AD | 99.74 | 139 of 147 |
SOX2 | Anophthalmia/ Microphthalmia- Esophageal Atresia Syndrome, Septo- opticDysplasia Spectrum | AD | 99.91 | 78 of 78 |
SPATA5 | Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy- Abnormal Muscle Tone Syndrome | AR | 99.83 | 30 of 30 |
SPNS2 | AutosomalRecessive Deafness | AR | 93.06 | 2 of 2 |
SPTBN4 | Congenital Myopathy With Neuropathy And Deafness | AR | 99.26 | 10 of 10 |
STRC | Autosomal Recessive Sensorineural Deafness And Male Infertility | AR | 47.3 | 35 of 62 |
SUCLA2 | Mitochondrial DNA DepletionSyndrome | AR | 100 | 27 of 27 |
SUCLG1 | Mitochondrial DNA DepletionSyndrome | AR | 100 | 34 of 34 |
SYNE4 | AutosomalRecessive Deafness | AR | 100 | 2 of 2 |
TBC1D24 | Autosomal Dominant Deafness, Autosomal Recessive Deafness, Doors Syndrome | AD,AR | 100 | 80 of 80 |
TBL1Y | Y-linkedDeafness | Y,G | 44.6 | – |
TBX1 | DigeorgeSyndrome, Velocardiofacial Syndrome | AD,AR | 88.7 | 35 of 42 |
TBX22 | Charge-like Syndrome, Cleft Palate, Abruzzo- Erickson Syndrome | X,G | 99.94 | – |
TCOF1 | Treacher Collins- Franceschetti Syndrome | AD | 100 | 326 of 327 |
TECTA | Autosomal Dominant Nonsyndromic Sensorineural Deafness | AD,AR | 99.96 | 149 of 149 |
TFAP2A | Branchiooculofacial Syndrome | AD | 98.61 | 37 of 37 |
TIMM8A | Mohr-Tranebjaerg Syndrome | X,XR,G | 100 | – |
TJP2 | Progressive FamilialIntrahepatic Cholestasis | AR | 99.85 | 43 of 43 |
TMC1 | Autosomal Dominant Deafness, Autosomal Recessive Neurosensory Deafness | AD,AR | 100 | 106 of 107 |
TMEM132E | Autosomal Recessive Deafness | AR | 99.8 | 1 of 1 |
TMIE | Autosomal Recessive Deafness | AR | 96.56 | 9 of 10 |
TMPRSS3 | Childhood-Onset Neurosensory Deafness | AR | 100 | 85 of 85 |
TNC | Autosomal Dominant Deafness | AD | 99.98 | 7 of 7 |
TPRN | Autosomal Recessive Deafness | AR | 75.75 | 7 of 12 |
TRAPPC12 | Early-Onset Progressive Encephalopathy- Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome | AR | 99.98 | 3 of 3 |
TRIOBP | AutosomalRecessive Deafness | AR | 98.48 | 42 of 42 |
TRMU | Aminoglycoside-Induced Deafness, Liver Failure , Acute Infantile, Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency | AR,MI | 100 | 25 of 25 |
TRNE | Maternally-Inherited Diabetes And Deafness | – | – | – |
TRNK | Maternally-Inherited Diabetes And Deafness, Mitochondrial DNA-Related Cardiomyopathy And Hearing Loss | MI | – | – |
TRNL1 | Kearns-Sayre Syndrome, Maternally-Inherited Diabetes And Deafness, Mitochondrial DNA-Associated Leigh Syndrome | MI | – | – |
TRNS1 | Deafness, Aminoglycoside- Induced, Mitochondrial Complex Iv Deficiency, Palmoplantar Keratoderma- Deafness Syndrome | AR,MI | – | – |
TRRAP | Autosomal Dominant Deafness | AD | 99.98 | 46 of 46 |
TSPEAR | Autosomal Recessive Deafness | AR | 100 | 9 of 9 |
TUBB4B | Leber Congenital Amaurosis With Early-Onset Deafness | AD | 100 | 3 of 3 |
TWNK | Infantile-Onset Spinocerebellar Ataxia, Perrault Syndrome, Progressive External Ophthalmoplegia With Mitochondrial DNA Deletions | AD,AR | – | – |
TXNL4A | Burn-Mckeown Syndrome, Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome | AR | 80.96 | 4 of 4 |
TYR | Oculocutaneous Albinism | AR | 99.77 | 437 of 455 |
USH1C | Autosomal Recessive Neurosensory Deafness, Usher Syndrome | AR | 99.97 | 79 of 79 |
USH1G | Usher Syndrome | AR | 100 | 35 of 35 |
USH2A | Retinitis Pigmentosa, Usher Syndrome | AR | 100 | 1286 of 1314 |
VCAN | Wagner Syndrome | AD | 99.91 | 11 of 21 |
WBP2 | Autosomal Recessive Deafness | AR | 80.97 | 3 of 3 |
WFS1 | Autosomal Dominant Deafness, Wolfram Syndrome | AD,AR | 99.97 | 390 of 395 |
WHRN | Autosomal Recessive Deafness, Usher Syndrome | AR | 99.94 | – |