Annotation Detail
Information
- Associated Genes
- IL23R
- Associated Variants
-
IL23R c.653-2380G>A
(
ENST00000697165.1,
ENST00000347310.10,
ENST00000697154.1,
ENST00000371007.6,
ENST00000697163.1,
ENST00000697164.1,
ENST00000697230.1 )
IL23R c.956-8194A>G ( ENST00000697163.1, ENST00000697230.1, ENST00000697164.1, ENST00000697165.1, ENST00000371007.6, ENST00000697154.1, ENST00000425614.3, ENST00000347310.10 )
ATG16L1 p.Thr317Ala (p.T317A) ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 )
IL23R c.653-2380G>A ( ENST00000347310.10, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 )
IL23R c.956-8194A>G ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 )
ATG16L1 p.Thr317Ala (p.T317A) ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 ) - Associated Disease
- Crohn Disease
- Source Database
- DisGeNET
- Description
- To investigate the interaction of interleukin-23 receptor (IL23R) (rs1004819 and rs2201841), autophagy-related 16-like 1 (ATG16L1) (rs2241880), caspase recruitment domain-containing protein 15 (CARD15) genes, and IBD5 locus in Crohn's disease (CD) patients.
- Pubmed
- 20066736
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.370597434945242
- Year of publication
- 2010
Drugs