DisGeNET - a database of gene-disease associations

Ischemic stroke, C0948008

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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

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2717
Gene Symbol:	GLA

GLA

0.320

Biomarker

disease

GENOMICS_ENGLAND

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.

15025684

2004

Entrez Id:	351
Gene Symbol:	APP

APP

0.310

Biomarker

disease

GENOMICS_ENGLAND

Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits.

20228223

2010

Entrez Id:	1281
Gene Symbol:	COL3A1

COL3A1

0.300

Biomarker

disease

GENOMICS_ENGLAND

Cerebrovascular complications in Ehlers-Danlos syndrome type IV.

8526472

1995

Entrez Id:	9445
Gene Symbol:	ITM2B

ITM2B

0.300

Biomarker

disease

GENOMICS_ENGLAND

A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred.

10781099

2000

Entrez Id:	59
Gene Symbol:	ACTA2

ACTA2

0.130

Biomarker

disease

HPO

Entrez Id:	5592
Gene Symbol:	PRKG1

PRKG1

0.110

Biomarker

disease

HPO

Entrez Id:	4088
Gene Symbol:	SMAD3

SMAD3

0.110

Biomarker

disease

HPO

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

0.110

Biomarker

disease

HPO

Entrez Id:	4015
Gene Symbol:	LOX

LOX

0.110

Biomarker

disease

HPO

Entrez Id:	1282
Gene Symbol:	COL4A1

COL4A1

0.110

Biomarker

disease

HPO

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

0.100

Biomarker

disease

HPO

Entrez Id:	2301
Gene Symbol:	FOXE3

FOXE3

0.100

Biomarker

disease

HPO

Entrez Id:	2022
Gene Symbol:	ENG

ENG

0.100

Biomarker

disease

HPO

Entrez Id:	4629
Gene Symbol:	MYH11

MYH11

0.100

Biomarker

disease

HPO

Entrez Id:	4638
Gene Symbol:	MYLK

MYLK

0.100

Biomarker

disease

HPO

Entrez Id:	81031
Gene Symbol:	SLC2A10

SLC2A10

0.100

Biomarker

disease

HPO

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

0.100

Biomarker

disease

HPO

Entrez Id:	4144
Gene Symbol:	MAT2A

MAT2A

0.100

Biomarker

disease

HPO

Entrez Id:	8076
Gene Symbol:	MFAP5

MFAP5

0.100

Biomarker

disease

HPO

Entrez Id:	7043
Gene Symbol:	TGFB3

TGFB3

0.100

Biomarker

disease

HPO

Entrez Id:	7042
Gene Symbol:	TGFB2

TGFB2

0.100

Biomarker

disease

HPO

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

0.100

Biomarker

disease

HPO

Entrez Id:	6651
Gene Symbol:	SON

SON

0.100

Biomarker

disease

HPO

Entrez Id:	2006
Gene Symbol:	ELN

ELN

0.100

Biomarker

disease

HPO

Entrez Id:	2147
Gene Symbol:	F2

0.200

GeneticVariation

disease

GWASCAT

Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

26908601

2016