Disease Term Disease ID Gene Symbol Classification References Source
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) C2673761 GJB2 Causal Pathogenic evidence from ClinVar - ClinVar
GJB3 Causal Pathogenic evidence from ClinVar - ClinVar
GJB6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SMIM12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) C2673760 GJB2 Causal Pathogenic evidence from ClinVar - ClinVar
GJB3 Causal Pathogenic evidence from ClinVar - ClinVar
GJB6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -