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 )
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
- 0.340104897278974
- Year of publication
- 2007
Drugs