Annotation Detail

Information
Associated Genes
ATG16L1
Associated Variants
IL23R p.Arg381Gln (p.R381Q) ( ENST00000697230.1, ENST00000697164.1, ENST00000697163.1, ENST00000697154.1, ENST00000425614.3, ENST00000347310.10, ENST00000697165.1 )
ATG16L1 p.Thr317Ala (p.T317A) ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 )
IL23R p.Arg381Gln (p.R381Q) ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 )
ATG16L1 p.Thr317Ala (p.T317A) ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 )
Associated Disease
Inflammatory Bowel Diseases
Source Database
DisGeNET
Description
IL23R R381Q and ATG16L1 T300A are strongly associated with Crohn's disease in a study of New Zealand Caucasians with inflammatory bowel disease.
Pubmed
17894849
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.173188927450907
Year of publication
2007
Drugs