Annotation Detail

Information
Associated Genes
NLRP3
Associated Variants
NLRP3 p.Gln703Lys (p.Q703K) ( ENST00000391827.3, ENST00000391828.8, ENST00000474792.2, ENST00000336119.8, ENST00000348069.7, ENST00000366496.7, ENST00000643234.2, ENST00000697350.1, ENST00000697408.2 )
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
CARD8 p.C10X and NLRP3 p.Q705K genotypes were assessed in >500 controls and patients with early RA from northern Sweden.
Pubmed
19443463
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0104442747925546
Year of publication
2010
Drugs