Annotation Detail

Information
Associated Genes
IL23R
Associated Variants
TLR9 p.Pro545= (p.P545=) ( ENST00000360658.3 )
TLR9 p.Pro545= (p.P545=) ( ENST00000360658.3 )
rs5743836
TLR9 p.Pro545= (p.P545=) ( ENST00000360658.3 )
TLR9 p.Pro545= (p.P545=) ( ENST00000360658.3 )
rs5743836
Associated Disease
Inflammatory Bowel Diseases
Source Database
DisGeNET
Description
The single-nucleotide polymorphisms (SNPs) -1237T/C (rs5743836) and 2848A/G (rs352140=p.Pro545Pro) in TLR9, the main CD-associated variants within the genes for NOD2, IL23R, ATG16L1, and variants in the IBD5 locus and in the DLG5 gene were assessed in 956 patients with IBD (606 CD and 350 ulcerative colitis) and in 792 healthy controls.
Pubmed
19455129
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.340104897278974
Year of publication
2009
Drugs