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.Glu186Gly (p.E186G) ( ENST00000650372.1 )
ABCB11 p.Val444Gly (p.V444G) ( ENST00000650372.1 )
ABCB11 p.Val444Ala (p.V444A) ( ENST00000650372.1 )
ABCB11 p.Val444Asp (p.V444D) ( ENST00000650372.1 )
ABCB11 p.Glu186Gly (p.E186G) ( ENST00000650372.1 ) - Associated Disease
- Cholestasis of pregnancy
- Source Database
- DisGeNET
- Description
- One mutation (E186G) had been described in one BRIC-2 case; the second mutation (V444A) is more frequent and has been linked to intrahepatic cholestasis of pregnancy.
- Pubmed
- 16394881
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.125971721185767
- Year of publication
- 2006
Drugs