DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Familial Mediterranean Fever ×

Variant: rs104895128 ×

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:

rs104895128

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

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

25286988

2015

dbSNP:

rs104895128

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.

26247045

2015

dbSNP:

rs104895128

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:

rs104895128

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:

rs104895128

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:

rs104895128

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.800

GeneticVariation

CLINVAR

Familial Mediterranean fever in Germany: clinical presentation and amyloidosis risk.

23137073

2013

dbSNP:

rs104895128

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:

rs104895128

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