rs61752717, MEFV

N. diseases: 72
Disease: Henoch-Schoenlein Purpura ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
0.030 GeneticVariation BEFREE Key points • p.M694V mutation is more common in Henoch-Schönlein purpura than in the general population. 30826945 2019
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
0.030 GeneticVariation BEFREE MEFV mutations, especially, E148Q and M694V, mutations might be associated with HSP and may affect clinical presentation and laboratory findings in HSP patients. 23981758 2013
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
0.030 GeneticVariation BEFREE Leucocyte counts, erythrocyte sedimentation rates, serum C-reactive protein (CRP) concentrations, number of patients with increased CRP levels and number of patients with increased immunoglobulin A concentrations were found to be higher in patients with MEFV mutations. p.M694V was the most frequent mutation and was found to have effects on clinical and laboratory findings in children with HSP. 21231959 2011