Annotation Detail

Information
Associated Genes
PTPN22
Associated Variants
PTPN22 MUTATION
PTPN22 MUTATION
Associated Disease
Crohn Disease
Source Database
DisGeNET
Description
After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant genotypes of IL23R G>A(rs11209026) (OR(CD,adj): 0.38, 95% CI: 0.21-0.67, p = 0.03; OR(IBD,adj) 0.43, 95% CI: 0.28-0.67, p = 0.007) and PTPN22 1858 G>A(rs2476601) (OR(CD,unadj) 0.54, 95% CI: 0.41-0.72, p = 7*10-4; OR(IBD,unadj): 0.61, 95% CI: 0.48-0.77, p = 0.001) were associated with reduced risk of CD.
Pubmed
24971461
Section of the abstract supporting the evidence
RESULTS
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree,GAD,GWASCAT
DisGENET score for the Gene Disease association
0.15375727631471
Drugs