DisGeNET - a database of gene-disease associations

EFEMP1, EGF containing fibulin extracellular matrix protein 1, 2202

N. diseases: 153; N. variants: 17

Disease: Glioma ×

Variant: rs1346786 ×

Source: ALL

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:

rs1346786

Entrez Id:	2202
Gene Symbol:	EFEMP1

EFEMP1

CUI:	C0017638
Disease:

Glioma

0.030

GeneticVariation

BEFREE

Our study demonstrated that <i>EFEMP1</i> polymorphisms, especially rs1346787 and rs1346786, might predict glioma risk in Chinese population.

29158681

2017

dbSNP:

rs1346786

Entrez Id:	2202
Gene Symbol:	EFEMP1

EFEMP1

CUI:	C0017638
Disease:

Glioma

0.030

GeneticVariation

BEFREE

Four SNPs were significant associated with glioma risk (rs1346787, P=0.004, adjusted OR=1.49; rs3791679, P=0.014, adjusted OR=1.27; rs1346786, P=0.002, adjusted OR=1.41; rs3791675, P=0.011, adjusted OR=1.27).

25638659

2015

dbSNP:

rs1346786

Entrez Id:	2202
Gene Symbol:	EFEMP1

EFEMP1

CUI:	C0017638
Disease:

Glioma

0.030

GeneticVariation

BEFREE

However, we did not find that rs1346786, rs1344733 and rs727878 were significantly associated with development of glioma.

26823870

2015