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.Gly412= (p.G412=) ( 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.Gly412= (p.G412=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
Associated Disease
familial Mediterranean fever
Source Database
DisGeNET
Description
Analysis of common MDR1 (ABCB1) gene C1236T and C3435T polymorphisms in Turkish patients with familial Mediterranean fever.
Pubmed
22194207
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00672003345355102
Year of publication
2011
Drugs