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
Inflammatory Bowel Diseases
Source Database
DisGeNET
Description
[IL23R expression was variable in IBD patients compared with controls without significant overexpression or downregulation.]
Pubmed
20192940
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.340104897278974
Year of publication
2010
Drugs