Annotation Detail
Information
- Associated Genes
- ABCB4
- Associated Variants
-
ABCB4 p.Arg652Gly (p.R652G)
(
ENST00000265723.8,
ENST00000359206.8,
ENST00000453593.5,
ENST00000649586.2 )
ABCB4 p.Arg652= (p.R652=) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg652Gly (p.R652G) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg652= (p.R652=) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 ) - Associated Disease
- cholestasis
- Source Database
- DisGeNET
- Description
- Multidrug resistance protein 3 R652G may reduce susceptibility to idiopathic infant cholestasis.
- Pubmed
- 19998509
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0943540816118536
- Year of publication
- 2009
Drugs