Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
NOD2 p.Arg702Trp (p.R702W)
(
ENST00000647318.2,
ENST00000300589.6 )
NOD2 p.Arg702Trp (p.R702W) ( ENST00000300589.6, ENST00000647318.2 ) - Associated Disease
- Crohn Disease
- Source Database
- DisGeNET
- Description
- Only two patients with early onset Crohn's disease exhibited rare deleterious variations within NOD2: the previously described R702W variant was the sole NOD2 variant in one patient, while the second patient also carried the L1007 frameshift insertion.
- Pubmed
- 22543157
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.56
- Year of publication
- 2013
Drugs