DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs28940580 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

GeneticVariation

BEFREE

Recently, the gene responsible for FMF, MEFV, has been cloned and four missense mutations (M680I, M694V, V726A and M694I) have been described.

10709887

2000

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study.

12401847

2002

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

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

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

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

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

Familial Mediterranean fever in Syrian patients: MEFV gene mutations and genotype-phenotype correlation.

19253030

2010

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

Familial mediterranean Fever: a retrospective clinical and molecular study in the East of anatolia region of Turkey.

20177433

2010

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.

19449169

2010

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

Genetic screening of familial Mediterranean fever mutations in the Palestinian population.

15951859

2005

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

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

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

Genetic screening of familial Mediterranean fever mutations in the Palestinian population.

15951859

2005

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

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

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

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

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

MEFV gene mutations spectrum among Lebanese patients referred for Familial Mediterranean Fever work-up: experience of a major tertiary care center.

17566872

2008

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.

10234504

1999

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

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

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

Pyrin/marenostrin mutations in familial Mediterranean fever.

10024914

1998

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype-phenotype correlation in children.

19845843

2009

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

GeneticVariation

BEFREE

To our knowledge, this is the first association between FMF and the M680I mutation later complicated by nephrotic syndrome and fibrillary glomerulonephritis.

12908875

2003

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

Frequency of MEFV mutation and genotype-phenotype correlation in cases with dysmenorrhea.

23800337

2013

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.

23907647

2014

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.

11464248

2001

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.

23907647

2014

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

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

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.890

CausalMutation

CLINVAR

Common MEFV mutations in Iranian Azeri Turkish patients with Behçet's disease.

21623663

2011

dbSNP:

rs28940580

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

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