Annotation Detail

Information
Associated Genes
NR1I2
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 c.-129T>C ( 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 )
ABCB1 c.-129T>C ( ENST00000265724.8, ENST00000543898.5, ENST00000622132.5 )
Associated Disease
HIV Infections
Source Database
DisGeNET
Description
We investigated whether polymorphisms in MDR1 (T-129C, C1236T and C3435T) and PXR (C63396T) affect lopinavir plasma concentration and the virological or immunological response to HAART in HIV-1-infected children.
Pubmed
23528223
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00345279946692324
Year of publication
2013
Drugs