Gene: NLRP3 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		0.040 GeneticVariation disease BEFREE A final diagnosis of SAIDs was reached in 50 patients, including 13 familial Mediterranean fever (FMF), 10 NLRP12-associated autoinflammtory disease (NLRP12-AID), 7 NLRP3-associated autoinflammatory disease (NLRP3-AID), 5 tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), 3 Blau syndrome, 3 Yao syndrome (YAOS) and 9 periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA). 31155445 2019
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		0.040 GeneticVariation disease BEFREE In summary, these results identify a new CARD8 variant associated with PFAPA and further suggest that disruption of the interaction between CARD8 and NLRP3 can regulate autoinflammation in patients. 28137891 2017
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		0.040 Biomarker disease BEFREE These included 12 (37.5%) familial Mediterranean fever, 6 (18.8%) tumour necrosis factor-receptor associated periodic syndrome, 8 (25%) cryopirin-associated periodic syndromes (Muckle-Wells syndrome [MWS] or overlap familial cold-associated periodic syndrome/MWS), 1 (3.1%) mevalonate kinase deficiency, and 5 (15.6%) PFAPA. 26299986 2016
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3 		0.040 GeneticVariation disease BEFREE Among these, the previously-reported missense mutation V198M in the NLRP3 gene was clearly shown not to co-segregate with PFAPA. 25988833 2015