DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Familial Mediterranean Fever ×

Variant: rs1355225244 ×

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:

rs1355225244

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.700

GeneticVariation

CLINVAR

Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC).

26843738

2015

dbSNP:

rs1355225244

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.700

GeneticVariation

CLINVAR

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

23907647

2014

dbSNP:

rs1355225244

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.700

GeneticVariation

CLINVAR

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

9668175

1998

dbSNP:

rs1355225244

MEFV

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.700

GeneticVariation

CLINVAR

Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).

9781020

1998