Hypercholanemia

Disease Term Disease ID Gene Symbol Classification References Source
Familial hypercholanemia 238475 TJP2 Causal Pathogenic evidence from ClinVar - ClinVar
BAAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EPHX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hypercholanemia, Familial C1843139 TJP2 Causal Pathogenic evidence from ClinVar 12704386, 24752540 ClinVar
BAAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12704386, 23415802 -
EPHX1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12704386, 12878321, 25992604 -