|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Bone Mineral Density in Egyptian Children with Familial Mediterranean Fever.
|
26722138 |
2016 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever.
|
25648235 |
2015 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
|
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 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
|
25628446 |
2015 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Familial Mediterranean Fever in Iran: A Report from FMF Registration Center.
|
26413094 |
2015 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Relationship between clinical findings and genetic mutations in patients with familial Mediterranean fever.
|
26759267 |
2015 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
|
0.890 |
GeneticVariation
|
BEFREE |
The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients.
|
24071932 |
2014 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
G |
0.890 |
CausalMutation
|
CLINVAR |
Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
|
23907647 |
2014 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects for five common MEFV gene mutations (E148Q, M680I, M694V, V726A, P369S) and clinical features.
|
23973724 |
2013 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Frequency of MEFV mutation and genotype-phenotype correlation in cases with dysmenorrhea.
|
23800337 |
2013 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
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 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
|
23742958 |
2013 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
G |
0.890 |
CausalMutation
|
CLINVAR |
We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects for five common MEFV gene mutations (E148Q, M680I, M694V, V726A, P369S) and clinical features.
|
23973724 |
2013 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
The expanded clinical profile and the efficacy of colchicine therapy in Egyptian children suffering from familial Mediterranean fever: a descriptive study.
|
23206577 |
2012 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
G |
0.890 |
CausalMutation
|
CLINVAR |
Common MEFV mutations in Iranian Azeri Turkish patients with Behçet's disease.
|
21623663 |
2011 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Common MEFV mutations in Iranian Azeri Turkish patients with Behçet's disease.
|
21623663 |
2011 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation.
|
19253030 |
2010 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.
|
20177433 |
2010 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.
|
19449169 |
2010 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
|
0.890 |
GeneticVariation
|
BEFREE |
We report the first case of FMF associated with M680I in Japan.
|
19967574 |
2010 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
|
0.890 |
GeneticVariation
|
BEFREE |
Furthermore, the statistically significant predominance of strong heterozygous mutations such as M694V and M680I in patients with hematolymphoid neoplasm; none had own and/or family history compatible with FMF, is interesting.
|
20518828 |
2010 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis.
|
20669279 |
2010 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
T |
0.890 |
CausalMutation
|
CLINVAR |
Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype-phenotype correlation in children.
|
19845843 |
2009 |
|
rs28940580
|
|
Familial Mediterranean Fever
|
G |
0.890 |
CausalMutation
|
CLINVAR |
MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.
|
19863562 |
2009 |