Erythrokeratodermia variabilis

Disease Term Disease ID Gene Symbol Classification References Source
Erythrokeratodermia variabilis 317, C0265961 KDSR Causal Pathogenic evidence from ClinVar 28575652 ClinVar
GJA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25398053 -
GJB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9843209, 10594760, 10798362, 12176042, 15948974, 18482034, 21188847, 21564177, 21879244, 21920315, 21950330, 22393412, 22681493, 23442023, 25297803, 26251042, 26632638 -
GJB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12648223, 23037955 -
KRT83 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27965375 -
LORICRIN 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 - -
TRPM4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30528822 -
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 C4479620 KDSR Causal Pathogenic evidence from ClinVar 28575652 ClinVar
Greither Disease C1851480 GJB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9843209 -