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
epilepsy
Source Database
DisGeNET
Description
The relationship established in a subset of the Chinese population between the MDR1 C3435T polymorphism and refractory epilepsy will guide epilepsy treatment and development of new AEDs.
Pubmed
24953225
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.194338987386432
Year of publication
2014
Drugs