Annotation Detail
Information
- Associated Genes
- ABCG8
- 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.Met429Val (p.M429V) ( 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.Met429Val (p.M429V) ( ENST00000272286.4 )
ABCG8 p.Val632Ala (p.V632A) ( ENST00000272286.4 )
ABCG8 p.Val632Gly (p.V632G) ( ENST00000272286.4 ) - Associated Disease
- cholecystolithiasis
- Source Database
- DisGeNET
- Description
- Various polymorphisms (A632V, T400K, D19H, M429V, and C54Y) in the ABCG8 and ABCG5 (Q604E) gene have been found to be associated with several facets of cholesterol metabolism, including baseline cholesterol level, cholesterol kinetics, individual responsiveness of plasma cholesterol to dietary and pharmaceutical interventions for hypercholesterolemia, and increased risk of gallstones.
- Pubmed
- 18522623
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.144017706528221
- Year of publication
- 2008
Drugs