Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Autoinflammatory Diseases
0.330 GeneticVariation group BEFREE Recent studies suggest that NALP3 and CARD-8 functional mutations contribute to the development of autoinflammatory diseases including hereditary periodic fever syndrome, arthritis as well as hypertension susceptibility. 19106604 2009
Hereditary Autoinflammatory Diseases
0.330 GeneticVariation group BEFREE Mutations involving the NALP3 gene cause hereditary periodic fever syndromes in humans. 17714972 2007
Hereditary Autoinflammatory Diseases
0.330 Biomarker group BEFREE We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes (HPFs) might be risk factors for AA amyloidosis among patients with chronic inflammatory disorders, including rheumatoid arthritis (RA), juvenile idiopathic arthritis (JIA), Crohn's disease, undiagnosed recurrent fevers and HPFs themselves. 15071491 2004
Hereditary Autoinflammatory Diseases
0.330 Biomarker group GENOMICS_ENGLAND