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
Cerebrovascular accident
Source Database
DisGeNET
Description
The minor T allele of a previously identified CARD8 variant (rs2043211) was found to be significantly associated with a protective effect of ischemic stroke under the recessive model in 2 independent stroke cohorts.
Pubmed
24385277
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2014
Drugs