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
- cholecystolithiasis
- Source Database
- DisGeNET
- Description
- Consistent with the mouse model, heterozygosity for the lithogenic ABCG8 allele was associated with gallstones in humans; 21.4% of gallstone patients carried the heterozygous D19H genotype, compared with 8.6% of controls (OR = 2.954; P = 0.026).
- Pubmed
- 17626266
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.144017706528221
- Year of publication
- 2007
Drugs