Gene: MEFV ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940579
rs28940579
MEFV
G 0.700 CausalMutation CLINVAR Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management. 28386255

2017
dbSNP: rs28940579
rs28940579
MEFV
G 0.700 CausalMutation CLINVAR Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment. 25760918

2016
dbSNP: rs28940579
rs28940579
MEFV
G 0.700 CausalMutation CLINVAR Diagnostic criteria of familial Mediterranean fever. 24424166

2014
dbSNP: rs28940579
rs28940579
MEFV
G 0.700 CausalMutation CLINVAR Familial Mediterranean fever: new phenotypes. 22878273

2012
dbSNP: rs28940579
rs28940579
MEFV
G 0.700 CausalMutation CLINVAR Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations. 20485448

2010
dbSNP: rs28940579
rs28940579
MEFV
G 0.700 CausalMutation CLINVAR The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. 16785446

2006
dbSNP: rs28940579
rs28940579
MEFV
G 0.700 CausalMutation CLINVAR Arthritis as the sole episodic manifestation of familial Mediterranean fever. 15868622

2005
dbSNP: rs28940579
rs28940579
MEFV
G 0.700 CausalMutation CLINVAR The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. 11468188

2001
dbSNP: rs28940579
rs28940579
MEFV
G 0.700 CausalMutation CLINVAR Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). 9668175

1998
dbSNP: rs28940579
rs28940579
MEFV
G 0.700 CausalMutation CLINVAR Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. 9288758

1997
dbSNP: rs28940579
rs28940579
MEFV
G 0.700 CausalMutation CLINVAR Remission of progressive renal failure in familial Mediterranean fever during colchicine treatment. 4015155

1985
dbSNP: rs28940579
rs28940579
MEFV
G 0.700 CausalMutation CLINVAR Familial Mediterranean fever. A survey of 470 cases and review of the literature. 5340644

1967