MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Disease: Periodic fever ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015974
Disease: Periodic fever
Periodic fever 		0.040 GeneticVariation disease BEFREE We excluded the patients (n = 34) heterozygous for MEFV variants of unknown significance and patients with typical periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (n = 2). 27679472 2017
CUI: C0015974
Disease: Periodic fever
Periodic fever 		0.040 GeneticVariation disease BEFREE Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population. 22580583 2012
CUI: C0015974
Disease: Periodic fever
Periodic fever 		0.040 GeneticVariation disease 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: C0015974
Disease: Periodic fever
Periodic fever 		0.040 GeneticVariation disease BEFREE A homozygous M694V mutation of the MEFV gene in a patient with periodic fever and thoracic pain. 10667038 2000