MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 298; N. variants: 32
Disease: Goiter ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018021
Disease: Goiter
Goiter 		0.010 GeneticVariation phenotype BEFREE Amyloid goiter as the initial manifestation of systemic amyloidosis due to familial mediterranean fever with homozygous MEFV mutation. 11349841 2001