MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Disease: Henoch-Schoenlein Purpura ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 GeneticVariation disease BEFREE MEFV variants in exon 10 may affect clinical presentation of HSP in populations where FMF is common. 30513227 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 GeneticVariation disease BEFREE Blood for MEFV gene mutation analysis was obtained either at the time of the Henoch-Schönlein purpura diagnosis or during follow-up visits. 30826945 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 GeneticVariation disease BEFREE The association between MEFV gene polymorphisms and Henoch-Schönlein purpura, and additional SNP-SNP interactions in Chinese Han children. 27796522 2017
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 GeneticVariation disease BEFREE In addition, MEFV, whose mutations cause familial Mediterranean fever, could be an important candidate gene for HSP. 23325094 2013
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 GeneticVariation disease BEFREE However, it seems that MEFV gene mutations may not have any effect on the clinical presentation of HSP. 22451026 2013
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 GeneticVariation disease BEFREE In the present study, the mutation rate of the MEFV gene in HSP and its association with the clinical course of the disease were evaluated. 23981758 2013
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 GeneticVariation disease BEFREE MEFV mutations are more frequent in HSP than in the general population, and mutation carriers may have more severe clinical findings with higher inflammatory response, suggesting a dysregulation of the inflammatory response because of defective gene encoding the protein pyrine. 21231959 2011
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 GeneticVariation disease BEFREE Our results suggest that MEFV E148Q could be a contributory genetic factor to HSP and HSP-related joint syndromes. 20602240 2010
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 Biomarker disease BEFREE Among the most interesting genes clearly associated with vasculitis, however, are uncommon alleles that also cause monogenic recessive diseases: MEFV in Behçet's disease and Henoch-Schönlein purpura, and A1AT in Wegener's granulomatosis. 20051862 2010
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 GeneticVariation disease BEFREE MEFV mutations modify the clinical presentation of Henoch-Schönlein purpura. 18843775 2008
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.100 GeneticVariation disease BEFREE Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura. 14615741 2003