|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.
|
11175300 |
2001 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.
|
20937419 |
2011 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis.
|
22337722 |
2012 |
|
rs28940580
|
|
|
0.890 |
GeneticVariation |
BEFREE |
FMF is caused by mutations in the MEFV gene which is located on chromosome 16p13.3. p.M680I, p.M694 V, p.M694I, p.V726A on exon 10 and p.E148Q on exon 2 are the most common mutations among FMF patients and these constitute 85 % of all.
|
24533546 |
2015 |
|
rs11466023
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Familial Mediterranean fever with P369S/R408Q exon3 variant in pyrin presenting as symptoms of PFAPA.
|
28001092 |
2017 |
|
rs28940579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
FMF-knockin (FMF-KI) mice that express chimeric pyrin protein with FMF mutation (MefvV726A/V726A) exhibit an autoinflammatory disorder mediated by autoactivation of the pyrin inflammasome.
|
30457980 |
2019 |
|
rs104895097
|
|
|
0.850 |
GeneticVariation |
BEFREE |
FMF-associated p.Arg761His allele carried with the loss of function TNFAIP3 mutation by all three HA20 patients may contribute to their autoinflammatory phenotype and could also be responsible for their favourable response to colchicine.
|
31376265 |
2020 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
E148Q has reduced penetrance and thus, a proportion of the individuals genetically affected with FMF remain asymptomatic.
|
14578967 |
2003 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever.
|
15458961 |
2005 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
M694V homozygous mutation was found most frequently in definitive FMF group than other groups (49, 9, 8.9%, respectively).
|
20217092 |
2011 |
|
rs224222
|
|
|
0.080 |
GeneticVariation |
BEFREE |
R202Q polymorphism should be included in routine molecular diagnosis of FMF patients.
|
22771921 |
2012 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
M694V homozygosity was associated with an earlier FMF onset (median age 5.5 years, p = 0.0001) and a higher prevalence of peritonitis (p = 0.007) and pleuritis (p = 0.0007) compared to patients without an M694V mutation.
|
23137073 |
2013 |
|
rs224222
|
|
|
0.080 |
GeneticVariation |
BEFREE |
R202Q alteration of the MEFV gene leads to symptoms consistent with FMF in some cases.
|
24718488 |
2014 |
|
rs224222
|
|
|
0.080 |
GeneticVariation |
BEFREE |
R202Q may be important in patients with FMF-associated AA amyloidosis.
|
27225717 |
2016 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
M694V homozygosis is highly associated withal typical features of FMF and with amyloidosis.
|
27791951 |
2017 |
|
rs224222
|
|
|
0.080 |
GeneticVariation |
BEFREE |
R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever.
|
28590056 |
2017 |
|
rs28940579
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A FMF-knock-in mouse strain that expresses chimeric pyrin protein with a V726A mutation (Mefv<sup>V726A/V726A</sup>) was generated to model human FMF.
|
27998728 |
2017 |
|
rs11466018
|
|
|
0.730 |
GeneticVariation |
BEFREE |
A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.
|
19967574 |
2010 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.
|
19967574 |
2010 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A genetic study revealed a heterozygous mutation of the MEFV gene, c.442G>C (E148Q), which is typical of familial Mediterranean fever.
|
30847869 |
2019 |
|
rs104895105
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
|
14679589 |
2004 |
|
rs61752717
|
|
|
0.900 |
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 |
|
rs61752717
|
|
|
0.900 |
GeneticVariation |
BEFREE |
All 12 common mutations in the MEFV gene were analyzed and the M694V variant was found to be associated with an adverse FMF clinical outcome in the Armenian-American population, manifested by earlier onset of disease, increased severity of disease, and renal amyloidosis.
|
23038988 |
2013 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Allele frequencies of M694I (13.5 % vs 0 %) and E148Q (39.1 % vs 24.8 %) mutations were significantly higher in FMF compared with healthy subjects.
|
27473114 |
2016 |
|
rs28940578
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Although the M694I mutation is less common among Mediterranean populations, it was present in 22 (76%) of 29 Japanese patients with FMF (previously reported cases).
|
18097735 |
2008 |