Palmoplantar keratoderma with deafness

Disease Term Disease ID Gene Symbol Classification References Source
Palmoplantar Keratoderma with Deafness C1835672 GJB2 Causal Pathogenic evidence from ClinVar 9285800, 9328482, 9336442, 9856479, 10376574, 10633135, 10713883, 10757647, 12172392, 12372058, 12668604, 15482471, 15996214, 17666888, 17993581, 18294064, 24346921, 31160754 ClinVar
COX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TRNS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9450881, 11069477 -
Palmoplantar keratoderma-deafness syndrome 2202 GJB2 Causal Pathogenic evidence from ClinVar - ClinVar