Annotation Detail
Information
- Associated Genes
- ABCB11
- Associated Variants
-
ABCC2 p.Val1188Glu (p.V1188E)
(
ENST00000647814.1 )
ABCC2 p.Cys1515Tyr (p.C1515Y) ( ENST00000647814.1 )
ABCB11 p.Val444Gly (p.V444G) ( ENST00000650372.1 )
ABCB11 p.Val444Ala (p.V444A) ( ENST00000650372.1 )
ABCB11 p.Val444Asp (p.V444D) ( ENST00000650372.1 )
ABCC2 p.Val1188Glu (p.V1188E) ( ENST00000647814.1 )
ABCC2 p.Cys1515Tyr (p.C1515Y) ( ENST00000647814.1 )
ABCB11 p.Val444Gly (p.V444G) ( ENST00000650372.1 )
ABCB11 p.Val444Ala (p.V444A) ( ENST00000650372.1 )
ABCB11 p.Val444Asp (p.V444D) ( ENST00000650372.1 ) - Associated Disease
- Cholestasis of pregnancy
- Source Database
- DisGeNET
- Description
- To study the association of three common ABCB11 and ABCC2 polymorphisms (ABCB11: 1331T>C --> V444A; ABCC2: 3563T>A --> V1188E and 4544G>A --> C1515Y) with intrahepatic cholestasis of pregnancy (ICP) and contraceptive-induced cholestasis (CIC).
- Pubmed
- 18176959
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.125971721185767
- Year of publication
- 2008
Drugs