DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Ischemic stroke ×

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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:	4854
Gene Symbol:	NOTCH3

NOTCH3

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.200

CausalMutation

CLINVAR

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.160

GeneticVariation

CLINVAR

Entrez Id:	3949
Gene Symbol:	LDLR

LDLR

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.160

CausalMutation

CLINVAR

Entrez Id:	59
Gene Symbol:	ACTA2

ACTA2

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.130

Biomarker

HPO

Entrez Id:	5592
Gene Symbol:	PRKG1

PRKG1

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.110

Biomarker

HPO

Entrez Id:	4088
Gene Symbol:	SMAD3

SMAD3

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.110

Biomarker

HPO

Entrez Id:	7048
Gene Symbol:	TGFBR2

TGFBR2

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.110

Biomarker

HPO

Entrez Id:	4015
Gene Symbol:	LOX

LOX

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.110

Biomarker

HPO

Entrez Id:	1282
Gene Symbol:	COL4A1

COL4A1

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.110

Biomarker

HPO

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	2301
Gene Symbol:	FOXE3

FOXE3

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

CausalMutation

CLINVAR

Entrez Id:	2022
Gene Symbol:	ENG

ENG

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	4629
Gene Symbol:	MYH11

MYH11

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	4638
Gene Symbol:	MYLK

MYLK

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	81031
Gene Symbol:	SLC2A10

SLC2A10

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	7046
Gene Symbol:	TGFBR1

TGFBR1

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	4144
Gene Symbol:	MAT2A

MAT2A

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	8076
Gene Symbol:	MFAP5

MFAP5

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	7043
Gene Symbol:	TGFB3

TGFB3

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	7042
Gene Symbol:	TGFB2

TGFB2

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	94
Gene Symbol:	ACVRL1

ACVRL1

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	6651
Gene Symbol:	SON

SON

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	2006
Gene Symbol:	ELN

ELN

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.100

Biomarker

HPO

Entrez Id:	462
Gene Symbol:	SERPINC1

SERPINC1

CUI:	C0948008
Disease:	Ischemic stroke

Ischemic stroke

0.040

Biomarker

BEFREE

We conclude that variant AT-III, especially in a homozygote, seems to be one cause of ischemic stroke in young adults and that simultaneous measurement of both the biologic and immunologic activities of AT-III is necessary to detect it.

2658206

1989