Erythrokeratodermia variabilis et progressiva

Disease Term Disease ID Gene Symbol Classification References Source
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 C4551486 GJB3 Causal Pathogenic evidence from ClinVar 9843209, 9843210, 10594760, 10798362 ClinVar
GJA1 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 - -
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 C4479618 GJB4 Causal Pathogenic evidence from ClinVar 11017804, 12648223, 19291775, 21950330, 23037955 ClinVar
SMIM12 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 C4479619 GJA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16891658, 25398053 -