Annotation Detail
Information
- Associated Genes
- ABCB4
- Associated Variants
-
ABCB4 p.Ser320Phe (p.S320F)
(
ENST00000265723.8,
ENST00000359206.8,
ENST00000453593.5,
ENST00000649586.2 )
ABCB4 p.Ser320Phe (p.S320F) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 ) - Associated Disease
- cholestasis
- Source Database
- DisGeNET
- Description
- ABCB4(S320F) homozygosity, with half the normal level of ABCB4, is the tipping point between more benign and potentially fatal cholestasis and makes these patients more acutely sensitive to environmental effects.
- Pubmed
- 24806754
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0943540816118536
- Year of publication
- 2013
Drugs