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 )
ABCG8 p.Tyr54Cys (p.Y54C) ( ENST00000272286.4 )
ABCG8 p.Thr400Lys (p.T400K) ( ENST00000272286.4 )
ABCG8 p.Thr400Arg (p.T400R) ( ENST00000272286.4 )
ABCG8 p.Thr400Met (p.T400M) ( ENST00000272286.4 )
ABCG8 p.Val632Ala (p.V632A) ( ENST00000272286.4 )
ABCG8 p.Val632Gly (p.V632G) ( ENST00000272286.4 )
ABCG5 p.Gln604Glu (p.Q604E) ( ENST00000405322.8 )
ABCG8 p.Asp19Asn (p.D19N) ( ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 )
ABCG8 p.Tyr54Cys (p.Y54C) ( ENST00000272286.4 )
ABCG8 p.Thr400Lys (p.T400K) ( ENST00000272286.4 )
ABCG8 p.Thr400Arg (p.T400R) ( ENST00000272286.4 )
ABCG8 p.Thr400Met (p.T400M) ( ENST00000272286.4 )
ABCG8 p.Val632Ala (p.V632A) ( ENST00000272286.4 )
ABCG8 p.Val632Gly (p.V632G) ( ENST00000272286.4 ) - Associated Disease
- cholelithiasis
- Source Database
- DisGeNET
- Description
- To investigate a possible association between transporter gene polymorphism and gallstone formation, we examined five common polymorphisms in the ABCG5 (Q604E) and ABCG8 (D19H, Y54C, T400K, A632V) genes in patients with gallstone disease (GS).
- Pubmed
- 17612515
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.132453988507291
- Year of publication
- 2007
Drugs