Disease Term Disease ID Gene Symbol Classification References Source
Alopecia congenita keratosis palmoplantaris C1863093 GJA1 Causal Pathogenic evidence from ClinVar 25168385 ClinVar
Autosomal dominant palmoplantar keratoderma and congenital alopecia 1010 GJA1 Causal Pathogenic evidence from ClinVar - ClinVar
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 C3151468 GJA1 Causal Pathogenic evidence from ClinVar 16891658, 25168385, 25398053 ClinVar