Annotation Detail
Information
- Associated Genes
- ABCB1
- Associated Variants
-
ABCB1 p.Ile1145= (p.I1145=)
(
ENST00000265724.8,
ENST00000543898.5,
ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 ) - Associated Disease
- Seizures
- Source Database
- DisGeNET
- Description
- C3435T polymorphism of ABCB1 gene was demonstrated in vivo to significantly influence the CSF/S PB concentration ratio and seizure frequency.
- Pubmed
- 18329296
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.163995683211084
- Year of publication
- 2008
Drugs