Annotation Detail
Information
- Associated Genes
- NOD2
- 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 )
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 ) - Associated Disease
- Crohn Disease
- Source Database
- DisGeNET
- Description
- In this study, we demonstrate that membrane-bound versions of NOD2 and Crohn disease-associated mutants R702W and G908R are capable of responding to MDP and activating the NF-kappaB pathway from this location.
- Pubmed
- 17355968
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.56
- Year of publication
- 2007
Drugs