rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Five sequence alterations (M694V, V726A, M680I, M694I and E148Q), in the MEFV gene, account for the majority of FMF chromosomes.
|
11938447 |
2002 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever.
|
15168590 |
2004 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
A candidate gene for familial Mediterranean fever.
|
9288094 |
1997 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).
|
9781020 |
1998 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
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 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
The genetic basis of autosomal dominant familial Mediterranean fever.
|
10787449 |
2000 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
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 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Pyrin/marenostrin mutations in familial Mediterranean fever.
|
10024914 |
1998 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Here, we report a Japanese female FMF patient with heterozygosity for the compound pyrin E148Q/M694I showing recurrent fever, serositis or delay in skin wound healing.
|
15805719 |
2005 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.
|
16627024 |
2007 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.
|
16378925 |
2006 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.
|
10234504 |
1999 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.
|
19863562 |
2009 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Presentation of familial Mediterranean fever in a heterozygous MEFV mutation triggered by immunosuppressive therapy for myelodysplastic syndrome.
|
19466506 |
2009 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients.
|
22037353 |
2012 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Disappearance of attacks with one dose of colchicine (1 mg/day) strengthened the presumptive diagnosis of atypical FMF, which was further confirmed by genetic testing identifying the homozygous mutation M694I/M694I of the MEFV gene.
|
20051664 |
2010 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
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 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Screening for the M694V mutation of the familial Mediterranean fever (FMF) gene in 604 French patients.
|
21290976 |
2010 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.
|
10612841 |
2000 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever in 2 Japanese families.
|
12064853 |
2002 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).
|
16730661 |
2006 |
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |