Annotation Detail

Information
Associated Genes
IL23R
Associated Variants
IL23R p.Arg381Gln (p.R381Q) ( ENST00000697230.1, ENST00000697164.1, ENST00000697163.1, ENST00000697154.1, ENST00000425614.3, ENST00000347310.10, ENST00000697165.1 )
IL23R p.Arg381Gln (p.R381Q) ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 )
Associated Disease
ulcerative colitis
Source Database
DisGeNET
Description
Heterozygosity for IL23R p.Arg381Gln confers a protective effect not only against Crohn's disease but also ulcerative colitis.
Pubmed
17877509
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.326936272243952
Year of publication
2007
Drugs