Annotation Detail

Information
Associated Genes
NFKB1
Associated Variants
rs28362491
rs28362491
NR1H2 c.-19-103T>C ( ENST00000253727.10, ENST00000411902.6, ENST00000593926.5, ENST00000598168.5, ENST00000599105.5, ENST00000652203.1 )
NR1H2 c.927+181T>C ( ENST00000253727.10, ENST00000411902.6, ENST00000593926.5, ENST00000598168.5, ENST00000599105.5, ENST00000652203.1 )
ENSG00000285585 c.*2-25037C>A ( ENST00000393716.8, ENST00000466380.6 )
ENSG00000285585 c.*2-24111G>A, NR1I2 c.95+266G>A ( ENST00000337940.4, ENST00000466380.6, ENST00000393716.8 )
NR1H2 c.-19-103T>C ( ENST00000253727.10, ENST00000411902.6, ENST00000593926.5, ENST00000598168.5, ENST00000599105.5, ENST00000652203.1 )
NR1H2 c.927+181T>C ( ENST00000253727.10, ENST00000411902.6, ENST00000593926.5, ENST00000598168.5, ENST00000599105.5, ENST00000652203.1 )
ENSG00000285585 c.*2-25037C>A ( ENST00000393716.8, ENST00000466380.6 )
ENSG00000285585 c.*2-24111G>A, NR1I2 c.95+266G>A ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
Associated Disease
ulcerative colitis
Source Database
DisGeNET
Description
Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-activated receptor (PPAR)-γ (PPARγ) PPARγ Pro12Ala (rs 1801282) and C1431T (rs 3856806); pregnane X receptor (PXR) (NR1I2) PXR A-24381C (rs1523127), C8055T (2276707), and A7635G (rs 6785049); and liver X receptor (LXR) (NR1H2) LXR T-rs1405655-C and T-rs2695121-C were assessed in a Danish case-control study of 327 Crohn's disease patients, 495 ulcerative colitis (UC) patients, and 779 healthy controls.
Pubmed
21245992
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.131258600408795
Year of publication
2011
Drugs