Annotation Detail

Information
Associated Genes
IL23R
Associated Variants
IL23R p.Leu310Pro (p.L310P) ( ENST00000697154.1, ENST00000371007.6, ENST00000347310.10, ENST00000425614.3, ENST00000697165.1, ENST00000697164.1, ENST00000697230.1, ENST00000697163.1 )
IL23R p.Leu310Pro (p.L310P) ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 )
Associated Disease
ulcerative colitis
Source Database
DisGeNET
Description
We found that IL23R (L310P) variant conferred a protective effect for crohn's disease (CD) but not ulcerative colitis (UC) patients.
Pubmed
25159710
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.326936272243952
Year of publication
2014
Drugs