|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient.
|
21995303 |
2012 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
GeneticVariation
|
CLINVAR |
FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations.
|
24318677 |
2014 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations.
|
24318677 |
2014 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
M694V homozygosis is highly associated withal typical features of FMF and with amyloidosis.
|
27791951 |
2017 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
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
|
|
Familial Mediterranean Fever
|
|
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 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Among the genotypes tested, homozygosity to the M</span>694V MEFV mutation was found to be associated with the most grievous phenotype in the clinical spectrum of FMF.
|
30171907 |
2019 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.
|
9288758 |
1997 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Both were found in compound heterozygosity with the mutation M694V in single Turkish patients with clinical syndromes characteristic for FMF.
|
11470495 |
2001 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and L110P/E148Q/M694I (17.5%), and no patient carried the M694V mutation, the most common mutation in Mediterranean patients with FMF.
|
19531756 |
2009 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Consistently, THP-1 cells transfected with FMF-associated M694V mutant pyrin displayed lower LPS/ATP-induced IL-1β compared with wild-type pyrin-transfected cells.
|
26074413 |
2015 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cranial nerve lesions and abnormal visually evoked potentials associated with the M694V mutation in familial Mediterranean fever.
|
12189462 |
2002 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Despite evidence that environmental factors (EFs) and genetic factors, including MEFV mutations (such as M694V, E148Q) and background modifier genes (MGs), affect the clinical manifestations of FMF, the relative contribution of each remains unknown.
|
22019429 |
2012 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Enthesopathy in patients with familial Mediterranean fever: increased prevalence in M694 V variant.
|
23334425 |
2013 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
|
25628446 |
2015 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
|
23742958 |
2013 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
|
24123366 |
2014 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study.
|
15643295 |
2005 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever and peritoneal malignant mesothelioma: a possible association?
|
16889173 |
2006 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations.
|
24318677 |
2014 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Forty-seven genetic-negative, 60 genetically heterogeneous and 57 p.M694V homozygous FMF patients were enrolled to the study.
|
25887307 |
2015 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Furthermore, carriage of the familial Mediterranean fever gene (MEFV) mutation Met694Val, which is known to cause recessively inherited familial Mediterranean fever, conferred BD risk in the Turkish population (OR, 2.65; P = 1.8 × 10(-12)).
|
23633568 |
2013 |