rs28940579, MEFV

N. diseases: 13
Disease: Overgrowth ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management. 28386255 2017
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment. 25760918 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Diagnostic criteria of familial Mediterranean fever. 24424166 2014
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Familial Mediterranean fever: new phenotypes. 22878273 2012
Overgrowth
CUI: C1849265
Disease: Overgrowth
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
Overgrowth
CUI: C1849265
Disease: Overgrowth
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
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Arthritis as the sole episodic manifestation of familial Mediterranean fever. 15868622 2005
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. 11468188 2001
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). 9668175 1998
Overgrowth
CUI: C1849265
Disease: Overgrowth
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
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Remission of progressive renal failure in familial Mediterranean fever during colchicine treatment. 4015155 1985
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Familial Mediterranean fever. A survey of 470 cases and review of the literature. 5340644 1967