Annotation Detail

Information
Associated Genes
IL23R
Associated Variants
NOD2 c.2462+1420C>T ( ENST00000647318.2, ENST00000300589.6 )
IL23R p.Arg381Gln (p.R381Q) ( ENST00000697230.1, ENST00000697164.1, ENST00000697163.1, ENST00000697154.1, ENST00000425614.3, ENST00000347310.10, ENST00000697165.1 )
NOD2 c.2462+1420C>T ( ENST00000300589.6, ENST00000647318.2 )
IL23R p.Arg381Gln (p.R381Q) ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 )
Associated Disease
Crohn Disease
Source Database
DisGeNET
Description
We observed the association between Crohn's disease and NOD2 (rs17313265, 0.28 in CD, 0.19 in controls, OR 1.5, p = 9×10-6) and IL23R (rs11209026, 0.026 in CD, 0.0.071 in controls, OR 0.4, p = 3.8×10-4).
Pubmed
25259511
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.370597434945242
Year of publication
2014
Drugs