Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cryopyrin-Associated Periodic Syndromes
0.020 GeneticVariation disease BEFREE The cryopyrin associated periodic syndrome (CAPS), the hyper IgD syndrome (HIDS) and the TNF receptor-associated periodic syndrome (TRAPS), are autoinflammatory conditions associated with mutations in the NLRP3, MVK and TNFRSF1A genes, respectively. 30418111 2019
Cryopyrin-Associated Periodic Syndromes
0.020 GeneticVariation disease BEFREE DNA samples from 97 patients with BD and 51 matched healthy controls were analysed for the mevalonate kinase (MVK), cold-induced autoinflammatory syndrome 1 (CIAS1) and proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP1) genes, responsible for mevalonate kinase deficiency (MKD), cryopyrin associated periodic syndromes (CAPS) and pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, respectively. 17213252 2007