MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Disease: Autoinflammatory disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE FMF-knockin (FMF-KI) mice that express chimeric pyrin protein with FMF mutation (MefvV726A/V726A) exhibit an autoinflammatory disorder mediated by autoactivation of the pyrin inflammasome. 30457980 2019
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Mutations in the gene encoding pyrin are associated with autoinflammatory disorder Familial Mediterranean Fever (FMF). 27998728 2017
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 Biomarker disease BEFREE The evidence that pyrin, as part of the pyrin inflammasome, acts as a sensor of different inactivating bacterial modification Rho GTPases, rather than interacting directly with these microbial products, sets the stage for a better understanding of the role of microorganisms and infections in the autoinflammatory disorders. 27682255 2017
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is a rare hereditary autoinflammatory disorder that is caused by pyrin gene mutation associated with aberrance of the interleukin (IL)-1β pathway and characterized by recurrent, self-limiting attacks of fever and other inflammatory symptoms. 26332735 2016
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Our aim was to compare the features between PFAPA syndrome patients from Turkey and those from the US, and patients with and without MEFV variants, and to test the performance of the Eurofever criteria in excluding other autoinflammatory disorders. 27059542 2016
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 Biomarker disease BEFREE Mutations resulting in charge reversal in the y-domain of PSTPIP1 (E→K) and increased interaction with pyrin cause a distinct autoinflammatory disorder defined by clinical and biochemical features not found in patients with PAPA syndrome, indicating a unique genotype-phenotype correlation for mutations in the PSTPIP1 gene. 26025129 2015
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE In Israel, the relative abundance of other autoinflammatory disorders (FMF, Behçet's disease) may result in misdiagnosis. 25438464 2014
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF), caused by mutations in the MEFV gene, is a frequent autoinflammatory disorder in the eastern Mediterranean. 24564907 2014
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE The autoinflammatory disorder familial Mediterranean fever (FMF) is associated with decreased expression of the Mediterranean fever gene (MEFV) and increased inflammation. 23206693 2013
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE We performed a retrospective single-center study of 33 patients with autoinflammatory disorders age <6 years at disease onset with 1 mutated MEFV allele. 23508419 2013
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder due to MEFV mutations and one of the most frequent Mediterranean genetic diseases. 23844200 2013
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) and Crohn's disease are autoinflammatory disorders, associated with genes (MEFV and NOD2/CARD15, respectively) encoding for regulatory proteins, important in innate immunity, apoptosis, cytokine processing, and inflammation. 22244368 2012
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder with more than 60 disease-associated mutations in the responsible gene, MEFV. 19863562 2009
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE SAA1 is one of the few modifiers identified in humans: this gene influences the risk of renal amyloidosis (RA) in patients with familial Mediterranean fever (FMF), a Mendelian autoinflammatory disorder associated with mutations in MEFV. 19888326 2009
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Mutations in MEFV lead to the autoinflammatory disorder, familial Mediterranean fever (FMF, MIM249100), which is characterized by recurrent self-resolving attacks of fever and polyserositis, with no clinical signs of disease in remission. 18725973 2008
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Mutations in pyrin cause the autoinflammatory disorder familial Mediterranean fever (FMF), a syndrome characterized by sporadic and unpredictable attacks of fever and localized severe pain. 18330885 2008
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE In patients with another autoinflammatory disorder, familial Mediterranean fever (FMF), mutations in the SPRY domain of the Pyrin protein are frequently found. 17431422 2007
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Mutations in cryopyrin and pyrin proteins are responsible for several autoinflammatory disorders in humans, suggesting that these proteins play important roles in regulating inflammation. 16037825 2006
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 Biomarker disease GENOMICS_ENGLAND A candidate gene for familial Mediterranean fever. 9288094 1997