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
- Two functional mutations, an insertion mutation at nucleotide 3020 (3020insC) and a missense mutation C2104T in the CARD15 gene (originally NOD2 gene) have been reported to be associated with Crohn's disease.
- Pubmed
- 15367194
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.56
- Year of publication
- 2004
Drugs