DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Familial Mediterranean Fever ×

Variant: rs104895085 ×

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:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

CausalMutation

CLINVAR

Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic.

26620106

2016

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

Adult autoinflammatory disease frequency and our diagnostic experience in an adult autoinflammatory clinic.

26620106

2016

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

UNIPROT

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.

25628446

2015

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.

24469716

2014

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.

23633568

2013

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

UNIPROT

Evidence-based recommendations for the practical management of Familial Mediterranean Fever.

23742958

2013

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

CausalMutation

CLINVAR

Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study.

24158885

2013

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study.

24158885

2013

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

CausalMutation

CLINVAR

"Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a ""heterozygote advantage"" in Turkey?"

21413889

2011

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

"Comprehensive analysis of a large-scale screen for MEFV gene mutations: do they truly provide a ""heterozygote advantage"" in Turkey?"

21413889

2011

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

19479870

2009

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

CausalMutation

CLINVAR

Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

19479870

2009

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

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

17665427

2007

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

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

17938136

2007

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

16378925

2006

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

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

15951859

2005

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease.

11470495

2001

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

CausalMutation

CLINVAR

Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease.

11470495

2001

dbSNP:

rs104895085

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states.

11242116

2001