Bile acid synthesis defect

Disease Term Disease ID Gene Symbol Classification References Source
Bile acid synthesis defect, congenital, 2 C1856127 AKR1D1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12970144, 15030995, 19175828, 20522910, 21185810, 24816252, 25304492 -
Bile acid synthesis defect, congenital, 4 C1858328 AMACR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10655068, 12512044, 18577977 -
C1QTNF3-AMACR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Bile acid synthesis defect, congenital, 1 C1843116 HSD3B7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11067870, 12679481, 27604308 -