Annotation Detail
Information
- Associated Genes
- ABCG5
- Associated Variants
-
ABCG5 p.Gln604Glu (p.Q604E)
(
ENST00000405322.8 )
ABCG8 p.Asp19Asn (p.D19N) ( ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 )
ABCG5 p.Gln604Glu (p.Q604E) ( ENST00000405322.8 )
ABCG8 p.Asp19Asn (p.D19N) ( ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 ) - Associated Disease
- cholelithiasis
- Source Database
- DisGeNET
- Description
- Recently, variants of the hepatocanalicular cholesterol hemitransporters ABCG5/8 were linked to gallstone disease; ABCG8 D19H in Caucasians and ABCG5 Q604E in Chinese.
- Pubmed
- 20497293
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.132453988507291
- Year of publication
- 2010
Drugs