Annotation Detail
Information
- Associated Genes
- NOD2
- Associated Variants
-
CARD8 p.Phe102Ile (p.F102I)
(
ENST00000391898.7,
ENST00000447740.6,
ENST00000519940.6,
ENST00000520015.5,
ENST00000520153.5,
ENST00000520753.5,
ENST00000521613.5,
ENST00000651546.1 )
CARD8 p.Phe102Ile (p.F102I) ( ENST00000391898.7, ENST00000447740.6, ENST00000519940.6, ENST00000520015.5, ENST00000520153.5, ENST00000520753.5, ENST00000521613.5, ENST00000651546.1 ) - Associated Disease
- Inflammatory Bowel Diseases
- Source Database
- DisGeNET
- Description
- Previous studies examining the association of a CARD8 single-nucleotide polymorphism (SNP) (rs2043211, p.Cys10X) with IBD yielded mixed results in Caucasians that may result from interaction with NALP3 or NOD2 (nucleotide-binding oligomerization domain 2) variants.
- Pubmed
- 21248762
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.396685649229943
- Year of publication
- 2011
Drugs