|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
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 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Pyrin/marenostrin mutations in familial Mediterranean fever.
|
10024914 |
1998 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
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 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.
|
10234504 |
1999 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever diagnosed by PCR.
|
10879615 |
2000 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.
|
10612841 |
2000 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Five founder mutations, V726A, M694V, M694I, M680I and E148Q account for 74% of FMF chromosomes from typical cases (Armenians, Arabs, Jews, and Turks).
|
11464238 |
2001 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Six sequence alterations (M694V, V726A, K695R, M680I, M694I, and E148Q), in the MEFV gene, account for the majority of FMF chromosomes.
|
11977178 |
2002 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The M694V and V726A allelic frequencies were, respectively, significantly higher and lower in the group with amyloidosis, compared to the control FMF group.
|
15018633 |
2004 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
In this study, the frequencies of three FMF-related MEFV mutations (M694V, M680I and V726A) were investigated in FMF patients with (AA-FMF, n = 37) and without amyloidosis (non-AA-FMF, n = 35), in patients with secondary amyloidosis related to non-FMF inflammatory conditions (S-AA, n = 19) and in a non-inflammatory control group (n = 185) by molecular genetic studies using polymerase chain reaction with the ARMS (amplification refractory mutation system) method.
|
15122067 |
2004 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
The V726A mutation, although identified in FMF patients with a relatively mild phenotype, has also been detected in patients with renal amyloidosis.
|
15745878 |
2005 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Forty-two BD patients who had no symptoms and family history for FMF and 66 healthy controls were screened for common MEFV gene mutations (E148Q, M680I, M694V, and V726A).
|
15903027 |
2005 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
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 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
|
16785446 |
2006 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.
|
16378925 |
2006 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
None of the Sicilian subjects studied carried the V726A and the M694I FMF-related mutations.
|
16387839 |
2006 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.
|
16627024 |
2007 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
A rare cause of ascites: Familial Mediterranean fever.
|
18386244 |
2008 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Haplotype analysis of 376 Familial Mediterranean Fever (FMF) patients and 100 controls from Lebanon was performed using 4 microsatellite loci to study founder effects for the five most frequent mutations within the MEFV gene (M694V, M694I, V726A, M680I and E148Q).
|
17711558 |
2008 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
The increased frequency of V726A gene mutation and the rarity of amyloidosis in this study suggest that Egyptian patients may have a milder form of FMF compared to other populations.
|
19777236 |
2010 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice.
|
21600797 |
2011 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient.
|
21995303 |
2012 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
|
23742958 |
2013 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
GeneticVariation
|
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
|
rs28940579
|
|
Familial Mediterranean Fever
|
G |
0.900 |
CausalMutation
|
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |