Annotation Detail
Information
- Associated Genes
- GABRG2
- 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
- epilepsy
- Source Database
- DisGeNET
- Description
- To assess the role of MDR1 and gamma-aminobutyric acid receptor-gamma 2 sub unit (GABRG2) gene polymorphism in seizure susceptibility in generalized seizure (GS) and febrile seizure (FS) patients and to evaluate MDR1 C3435T gene polymorphism's role in absorption of the anti-epileptic drug, phenytoin (PHT) in a cohort of patients.
- Pubmed
- 22239287
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0178068810787768
- Year of publication
- 2012
Drugs