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
Crohn Disease
Source Database
DisGeNET
Description
[Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn\'s disease.]
Pubmed
20182451
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.140812604714988
Year of publication
2010
Drugs