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
cholelithiasis
Source Database
DisGeNET
Description
Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease.
Pubmed
18457353
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.132453988507291
Year of publication
2008
Drugs