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
Crohn Disease
Source Database
DisGeNET
Description
[One is SNP rs11209026 in exon 9 of IL23R for association with Crohn\'s disease, which is predicted to be probably damaging by PolyPhen2.]
Pubmed
22293688
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.370597434945242
Year of publication
2012
Drugs