DISEASES

Disease-gene associations mined from literature

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Human genes for congenital bile acid synthesis defect

Congenital bile acid synthesis defect [DOID:0050674]

A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.

Synonyms:  congenital bile acid synthesis defect,  congenital bile acid synthesis defects,  DOID:0050674,  3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency,  CBA ...

Linkouts:  OMIM #1 #2 #3 #4

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.