|
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
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
|
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 |
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 |
Enthesopathy in patients with familial Mediterranean fever: increased prevalence in M694 V variant.
|
23334425 |
2013 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Here, we report the different clinical courses of FMF in a family carrying the same M694V mutation.
|
22790142 |
2012 |
|
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
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients.
|
22037353 |
2012 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients.
|
21290976 |
2010 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation.
|
20008920 |
2010 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population.
|
18353061 |
2008 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
|
16785446 |
2006 |
|
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
|
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 |
They also show that M694V is the most common mutation in Arab patients with FMF and seems to have an association with the development of amyloidosis and the PFMS.
|
15942916 |
2005 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.
|
11464248 |
2001 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
The genetic basis of autosomal dominant familial Mediterranean fever.
|
10787449 |
2000 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
|
10364520 |
1999 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).
|
9781020 |
1998 |
|
rs61752717
|
|
Familial Mediterranean Fever
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Pyrin/marenostrin mutations in familial Mediterranean fever.
|
10024914 |
1998 |
|
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 |