Annotation Detail

Information
Associated Genes
CARD8
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
However, studies testing for the association of the CARD8 loss-of-function single-nucleotide polymorphism (SNP) rs2043211 with IBD have yielded mixed results.
Pubmed
20182451
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00162865123248182
Year of publication
2010
Drugs