Annotation Detail
Information
- Associated Genes
- ABCB11
- Associated Variants
-
ABCB11 p.Val444Gly (p.V444G)
(
ENST00000650372.1 )
ABCB11 p.Val444Ala (p.V444A) ( ENST00000650372.1 )
ABCB11 p.Val444Asp (p.V444D) ( ENST00000650372.1 )
ABCB11 p.Val444Gly (p.V444G) ( ENST00000650372.1 )
ABCB11 p.Val444Ala (p.V444A) ( ENST00000650372.1 )
ABCB11 p.Val444Asp (p.V444D) ( ENST00000650372.1 ) - Associated Disease
- cholestasis
- Source Database
- DisGeNET
- Description
- A common variant of BSEP (p.V444A) is now a well-established susceptibility factor for acquired cholestasis and recent evidence suggests that the same variant also influences the therapeutic response and disease progression of viral hepatitis C. Studies in large independent cohorts are now needed to confirm the relevance of p.V444A.
- Pubmed
- 21320040
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.213420203863774
- Year of publication
- 2011
Drugs