Annotation Detail
Information
- Associated Genes
- ABCG5
- Associated Variants
-
ABCG8 p.Asp19Asn (p.D19N)
(
ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 )
ABCG8 p.Asp19Asn (p.D19N) ( ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 ) - Associated Disease
- cholecystolithiasis
- Source Database
- DisGeNET
- Description
- A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
- Pubmed
- 17632509
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.13082533727481
- Year of publication
- 2007
Drugs