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 )
ABCG5 p.Gln604Glu (p.Q604E) ( ENST00000405322.8 )
ABCG8 p.Asp19Asn (p.D19N) ( ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 ) - Associated Disease
- Metabolic syndrome X
- Source Database
- DisGeNET
- Description
- Low serum cholesterol and cholesterol absorption were linked to the D19H polymorphism of the ABCG8 gene, and characteristics of the insulin resistance syndrome in men were linked with the Q604E polymorphism of the ABCG5 gene.
- Pubmed
- 15175352
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2004
Drugs