Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
NOD2 p.Pro268Thr (p.P268T)
(
ENST00000647318.2,
ENST00000300589.6 )
NOD2 p.Pro268Ser (p.P268S) ( ENST00000300589.6, ENST00000647318.2 )
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.Pro268Thr (p.P268T) ( ENST00000300589.6, ENST00000647318.2 )
NOD2 p.Pro268Ser (p.P268S) ( 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
- Inflammatory Bowel Diseases
- Source Database
- DisGeNET
- Description
- In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scottish UC, 113 Irish CD) and 304 controls were genotyped for variants of NOD2/CARD15 (1007fsinsC, G908R, R702W, P268S), TLR4 (A299G) and CD14 (T-159C).
- Pubmed
- 15190267
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.396685649229943
- Year of publication
- 2004
Drugs