Annotation Detail
Information
- Associated Genes
- IL23R
- Associated Variants
-
NOD2 p.Arg702Trp (p.R702W)
(
ENST00000647318.2,
ENST00000300589.6 )
NOD2 p.Gly908Arg (p.G908R) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Gly908Cys (p.G908C) ( ENST00000300589.6, ENST00000647318.2 )
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 )
NOD2 p.Arg702Trp (p.R702W) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Gly908Arg (p.G908R) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Gly908Cys (p.G908C) ( ENST00000300589.6, ENST00000647318.2 )
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 )
NOD2 p.Ala1006ArgfsTer3 (p.A1006Rfs*3)
NOD2 p.Ala1006ArgfsTer3 (p.A1006Rfs*3) - Associated Disease
- Crohn Disease
- Source Database
- DisGeNET
- Description
- One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (UC)] and 186 healthy controls were genotyped for the following known genetic susceptibility variants: NOD2 - Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847), as well as IL23R - Arg381Gln (rs11209026) and ATG16L1 - Thr300Ala (rs2241880).
- Pubmed
- 20082483
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.370597434945242
- Year of publication
- 2010
Drugs