rs61752717, MEFV

N. diseases: 72
Disease: Fever ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fever
CUI: C0015967
Disease: Fever
0.030 GeneticVariation BEFREE Fever and peritonitis are the most frequent signs of homozygous M694V and combine heterozygous mutations. 26215181 2016
Fever
CUI: C0015967
Disease: Fever
0.030 GeneticVariation BEFREE New phenotype-genotype correlations emerged from our study: homozygosity for the M694V mutation was associated with intensity of fever, splenomegaly and with erysipelas-like erythema. 11085810 2000
Fever
CUI: C0015967
Disease: Fever
0.030 GeneticVariation BEFREE A Turkish patient with episodic fever and thoracic pain is described in whom a homozygous M694V mutation of the MEFV gene confirmed the clinical diagnosis of familial Mediterranean fever. 10667038 2000