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
Crohn Disease
Source Database
DisGeNET
Description
The CARD8 p.C10X mutation associates with a low anti-glycans antibody response in patients with Crohn's disease.
Pubmed
23506543
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00854418168799245
Year of publication
2013
Drugs