Annotation Detail
Information
- Associated Genes
- GABRG2
- Associated Variants
-
GABRG2 p.Asn196= (p.N196=)
(
ENST00000361925.9,
ENST00000414552.6,
ENST00000638552.1,
ENST00000638660.1,
ENST00000638772.1,
ENST00000639046.1,
ENST00000639111.2,
ENST00000639213.2,
ENST00000639384.1,
ENST00000639683.1,
ENST00000639975.1,
ENST00000640574.1,
ENST00000640985.1,
ENST00000641017.1 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ile1145= (p.I1145=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
GABRG2 p.Asn196= (p.N196=) ( ENST00000361925.9, ENST00000414552.6, ENST00000638552.1, ENST00000638660.1, ENST00000638772.1, ENST00000639046.1, ENST00000639111.2, ENST00000639213.2, ENST00000639384.1, ENST00000639683.1, ENST00000639975.1, ENST00000640574.1, ENST00000640985.1, ENST00000641017.1 )
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
- Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption.
- Pubmed
- 22239287
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00636271518968588
- Year of publication
- 2012
Drugs