Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
NOD2 p.Thr307Met (p.T307M)
(
ENST00000647318.2,
ENST00000300589.6 )
CX3CR1 p.Thr312Met (p.T312M) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 )
CX3CR1 p.Val281Ile (p.V281I) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 )
NOD2 p.Thr307Met (p.T307M) ( ENST00000300589.6, ENST00000647318.2 )
CX3CR1 p.Thr312Met (p.T312M) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 )
CX3CR1 p.Val281Ile (p.V281I) ( ENST00000358309.3, ENST00000399220.3, ENST00000541347.5, ENST00000542107.5 ) - Associated Disease
- Crohn Disease
- Source Database
- DisGeNET
- Description
- Our aim was to evaluate the frequency of CX3CR1 V249I and T280M polymorphisms and NOD2/CARD15 mutations in Crohn's disease patients and to search for a relationship with phenotype.
- Pubmed
- 18617779
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.56
- Year of publication
- 2008
Drugs