DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Familial Mediterranean Fever ×

Gene: SERPINE1 ×

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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:	5054
Gene Symbol:	SERPINE1

SERPINE1

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.030

GeneticVariation

BEFREE

We evaluated the association of PAI-1 -675 4G/5G polymorphism with the severity of FMF disease.

23052617

2013

Entrez Id:	5054
Gene Symbol:	SERPINE1

SERPINE1

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.030

GeneticVariation

BEFREE

However, further investigations are needed to reach a conclusion on the association between PAI-1 polymorphisms and FMF.

22736074

2013

Entrez Id:	5054
Gene Symbol:	SERPINE1

SERPINE1

CUI:	C0031069
Disease:	Familial Mediterranean Fever

Familial Mediterranean Fever

0.030

GeneticVariation

BEFREE

The effect of plasminogen activator inhibitor-1 -675 4G/5G polymorphism on familial Mediterranean fever (FMF) disease.

19033264

2009