DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Familial Mediterranean Fever ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	10483
Gene Symbol:	SEC23B

SEC23B

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.100

CausalMutation

CLINVAR

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.

19621418

2009

Entrez Id:	10483
Gene Symbol:	SEC23B

SEC23B

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.100

CausalMutation

CLINVAR

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

19561605

2009

Entrez Id:	10483
Gene Symbol:	SEC23B

SEC23B

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.100

CausalMutation

CLINVAR

Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.

25044164

2014

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

CausalMutation

CLINVAR

Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations.

17711558

2008

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

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

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

GeneticVariation

CLINVAR

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.

17276496

2007

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

GeneticVariation

CLINVAR

Over 50 MEditerranean FeVer (MEFV) mutations and polymorphisms have been identified in FMF patients.

17566872

2008

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

CausalMutation

CLINVAR

Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.

14578331

2003

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

CausalMutation

CLINVAR

Clinical and molecular diagnosis of Familial Mediterranean Fever in Egyptian children.

17592559

2007

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

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

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

GeneticVariation

CLINVAR

An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism.

17665427

2007

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

CausalMutation

CLINVAR

MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.

16255051

2005

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

GeneticVariation

CLINVAR

Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.

17938136

2007

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

CausalMutation

CLINVAR

Defect of suppression of inflammasome-independent interleukin-8 secretion from SW982 synovial sarcoma cells by familial Mediterranean fever-derived pyrin mutations.

24318677

2014

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

CausalMutation

CLINVAR

An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.

15146467

2004

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

CausalMutation

CLINVAR

Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes.

16234278

2006

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

GeneticVariation

CLINVAR

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

15951859

2005

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

CausalMutation

CLINVAR

The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series.

15942916

2005

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

GeneticVariation

CLINVAR

We have analyzed intragenic MEFV SNPs in Spanish and Chueta (descendants of converted Jews) FMF patients and controls, and this constitutes the first systematic survey of normal MEFV SNP haplotype structure and variability.

15024744

2004

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

CausalMutation

CLINVAR

Multiplex molecular diagnosis of MEFV mutations in patients with familial Mediterranean fever by LightCycler real-time PCR.

16120953

2005

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

GeneticVariation

CLINVAR

Defect of suppression of inflammasome-independent interleukin-8 secretion from SW982 synovial sarcoma cells by familial Mediterranean fever-derived pyrin mutations.

24318677

2014

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

GeneticVariation

CLINVAR

[Familial Mediterranean Fever (FMF): from diagnosis to treatment].

15745878

2005

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

GeneticVariation

CLINVAR

Increased prevalence of MEFV exon 10 variants in Japanese patients with adult-onset Still's disease.

25286988

2015

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

CausalMutation

CLINVAR

Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.

25393764

2015

Entrez Id:	4210
Gene Symbol:	MEFV

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

1.000

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