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.Ser893Ala (p.S893A) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ser893Thr (p.S893T) ( 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.Ser893Ala (p.S893A) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Ser893Thr (p.S893T) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
ABCB1 p.Gly412= (p.G412=) ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
Associated Disease
Myeloid Leukemia, Chronic
Source Database
DisGeNET
Description
Three ABCB1 SNPs (C1236T, G2677T, and C3435T) were genotyped in 100 Egyptian patients with CML undergoing IM therapy using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.
Pubmed
25301112
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0195214087030435
Year of publication
2014
Drugs