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 )
NLRP3 p.Gln703Lys (p.Q703K) ( ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
CARD8 p.Phe102Ile (p.F102I) ( ENST00000391898.7, ENST00000447740.6, ENST00000519940.6, ENST00000520015.5, ENST00000520153.5, ENST00000520753.5, ENST00000521613.5, ENST00000651546.1 )
NLRP3 p.Gln703Lys (p.Q703K) ( ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
Associated Disease
rheumatoid arthritis
Source Database
DisGeNET
Description
The combination of the polymorphisms CARD8 (C10X)and NALP3 (Q705K) was recently shown to be associated with rheumatoid arthritis.Our aim was to investigate whether these combined polymorphisms play a role in the susceptibility to CD.
Pubmed
19319132
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00881562356007275
Year of publication
2009
Drugs