MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Disease: Hereditary Autoinflammatory Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		0.360 GeneticVariation group BEFREE Mutations in the Mediterranean fever gene (MEFV or pyrin) are associated with hereditary autoinflammatory disease and severe IBD. 29203393 2018
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		0.360 GeneticVariation group BEFREE The high percentage (66.61%) of patients with unidentified mutations could be due to mutations in the rest of the coding or noncoding MEFV gene or due to mutations in other genes that are also causing Hereditary Recurrent Fevers. 25393764 2015
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		0.360 Biomarker group GENOMICS_ENGLAND Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice. 21600797 2011
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		0.360 GeneticVariation group BEFREE Inclusion criteria are disease-associated mutations for hereditary periodic fever syndromes [FMF, hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS), TNF receptor 1-associated periodic syndrome (TRAPS) and cryopyrin-associated periodic syndrome (CAPS)], or, alternatively, clinically confirmed AID, systemic-onset JIA (SoJIA) and periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome with unknown genetic background. 21148158 2011
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		0.360 GeneticVariation group BEFREE Familial Mediterranean fever (FMF) is a hereditary recurrent fever associated with mutations in the gene MEFV encoding pyrin. 21776013 2011
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		0.360 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
CUI: C0751422
Disease: Hereditary Autoinflammatory Diseases
Hereditary Autoinflammatory Diseases 		0.360 GeneticVariation group BEFREE We conclude that the new H478Y MEFV mutation is the dominant pathological variant causing the inflammatory periodic syndrome in this kindred and that full-length analyses of the MEFV gene are needed to obtain an adequate diagnosis of patients with clinical suspicion of a hereditary periodic fever syndrome, especially those from non-ancestral populations. 14679589 2004