MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Disease: Systemic amyloidosis ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268380
Disease: Systemic amyloidosis
Systemic amyloidosis 		0.020 GeneticVariation disease BEFREE A detailed search for the etiology of systemic amyloidosis revealed heterozygous mutation in the Mediterranean fever gene. 29239128 2018
CUI: C0268380
Disease: Systemic amyloidosis
Systemic amyloidosis 		0.020 GeneticVariation disease BEFREE Amyloid goiter as the initial manifestation of systemic amyloidosis due to familial mediterranean fever with homozygous MEFV mutation. 11349841 2001