Annotation Detail

Information
Associated Genes
ABCG8
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
cholelithiasis
Source Database
DisGeNET
Description
ABCG8-D19H is a predictor of gallstone recurrence, a major long term postoperative biliary complication.
Pubmed
22869156
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.148827715355546
Year of publication
2013
Drugs