Disease Term Disease ID Gene Symbol Classification References Source
Sensorineural Hearing Loss (disorder) C0018784 ADGRV1 Causal Pathogenic evidence from ClinVar - ClinVar
BSND Causal Pathogenic evidence from ClinVar - ClinVar
CDH23 Causal Pathogenic evidence from ClinVar - ClinVar
CEACAM16 Causal Pathogenic evidence from ClinVar - ClinVar
CIB2 Causal Pathogenic evidence from ClinVar - ClinVar
CLCNKA Causal Pathogenic evidence from ClinVar - ClinVar
CLDN14 Causal Pathogenic evidence from ClinVar - ClinVar
CLIC5 Causal Pathogenic evidence from ClinVar - ClinVar
COCH Causal Pathogenic evidence from ClinVar - ClinVar
COL11A1 Causal Pathogenic evidence from ClinVar - ClinVar
ESPN Causal Pathogenic evidence from ClinVar - ClinVar
GIPC3 Causal Pathogenic evidence from ClinVar - ClinVar
GJB2 Causal Pathogenic evidence from ClinVar 15091236 ClinVar
GRAP Causal Pathogenic evidence from ClinVar - ClinVar
ILDR1 Causal Pathogenic evidence from ClinVar - ClinVar
MYH9 Causal Pathogenic evidence from ClinVar 22627578 ClinVar
MYO15A Causal Pathogenic evidence from ClinVar - ClinVar
MYO7A Causal Pathogenic evidence from ClinVar - ClinVar
OTOA Causal Pathogenic evidence from ClinVar - ClinVar
OTOF Causal Pathogenic evidence from ClinVar - ClinVar
PCDH15 Causal Pathogenic evidence from ClinVar - ClinVar
PDZD7 Causal Pathogenic evidence from ClinVar - ClinVar
PJVK Causal Pathogenic evidence from ClinVar - ClinVar
PRPS1 Causal Pathogenic evidence from ClinVar 25182139 ClinVar
SLC26A4 Causal Pathogenic evidence from ClinVar 11932316, 15279074, 16053392, 17322586 ClinVar
SMPX Causal Pathogenic evidence from ClinVar - ClinVar
TECTA Causal Pathogenic evidence from ClinVar - ClinVar
TMC1 Causal Pathogenic evidence from ClinVar 22105175 ClinVar
TMPRSS3 Causal Pathogenic evidence from ClinVar - ClinVar
TPRN Causal Pathogenic evidence from ClinVar - ClinVar
USH1C Causal Pathogenic evidence from ClinVar - ClinVar
USH1G Causal Pathogenic evidence from ClinVar - ClinVar
USH2A Causal Pathogenic evidence from ClinVar - ClinVar
WHRN Causal Pathogenic evidence from ClinVar - ClinVar
A2ML1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AAAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AARS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABCC9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ABHD12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24697911, 29571850 -
ABHD5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ACOX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Conductive hearing loss C0018777 GJB2 Causal Pathogenic evidence from ClinVar - ClinVar
USH2A Causal Pathogenic evidence from ClinVar - ClinVar
ABCA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Conductive hearing loss, bilateral C0452136 GJB2 Causal Pathogenic evidence from ClinVar - ClinVar
Sensory hearing loss C1691779 GJB2 Causal Pathogenic evidence from ClinVar 15091236 ClinVar
SLC26A4 Causal Pathogenic evidence from ClinVar 15279074, 16053392, 17322586 ClinVar
Hearing Loss, High-Frequency C0018780 MYH9 Causal Pathogenic evidence from ClinVar - ClinVar
SMPX Causal Pathogenic evidence from ClinVar - ClinVar