Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
WDHD1 p.Gly909Arg (p.G909R)
(
ENST00000360586.8,
ENST00000420358.2 )
NOD2 p.Gly908Arg (p.G908R) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Gly908Cys (p.G908C) ( ENST00000300589.6, ENST00000647318.2 )
WDHD1 p.Gly909Arg (p.G909R) ( ENST00000360586.8, ENST00000420358.2 )
NOD2 p.Gly908Arg (p.G908R) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Gly908Cys (p.G908C) ( ENST00000300589.6, ENST00000647318.2 ) - Associated Disease
- Crohn Disease
- Source Database
- DisGeNET
- Description
- Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.87×10(-2) for 1007fs, R720W, and G908R, respectively), but not with ulcerative colitis (p=0.1046, 0.1269, and 0.8929, respectively).
- Pubmed
- 23709157
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.56
- Year of publication
- 2013
Drugs