MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Disease: Lymphadenopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.120 GeneticVariation phenotype BEFREE We aimed at investigating the effect of MEFV gene mutations on disease phenotype in PFAPA. 20828792 2011
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.120 Biomarker phenotype BEFREE During the first 9 months, 117 patients (65 males, 52 females; age 1-21 years) have been recorded and classified as FMF (n=84), HIDS (n=1), TRAPS (n=3) and CAPS (n=1); clinically confirmed AID (n=5); SoJIA (n=22); and PFAPA (n=1). 21148158 2011
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.120 Biomarker phenotype HPO