Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
Bile Acid Synthesis Defect, Congenital, 3
0.700 Biomarker GENOMICS_ENGLAND AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases. 31337596

2020

Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
Bile Acid Synthesis Defect, Congenital, 3
0.700 Biomarker GENOMICS_ENGLAND Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. 9802883

1998

Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
Bile Acid Synthesis Defect, Congenital, 3
0.700 GermlineCausalMutation ORPHANET Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. 9802883

1998

Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
Bile Acid Synthesis Defect, Congenital, 3
0.700 CausalMutation CLINVAR

Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
Bile Acid Synthesis Defect, Congenital, 3
0.700 Biomarker CTD_human