DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: MOYAMOYA DISEASE 5 ×

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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:	59
Gene Symbol:	ACTA2

ACTA2

CUI:	C3279690
Disease:	MOYAMOYA DISEASE 5

MOYAMOYA DISEASE 5

0.700

Biomarker

GENOMICS_ENGLAND

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.

26888179

2016

Entrez Id:	59
Gene Symbol:	ACTA2

ACTA2

CUI:	C3279690
Disease:	MOYAMOYA DISEASE 5

MOYAMOYA DISEASE 5

0.700

GeneticVariation

UNIPROT

Analysis of ACTA2 in European Moyamoya disease patients.

20970362

2011

Entrez Id:	59
Gene Symbol:	ACTA2

ACTA2

CUI:	C3279690
Disease:	MOYAMOYA DISEASE 5

MOYAMOYA DISEASE 5

0.700

Biomarker

GENOMICS_ENGLAND

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

20734336

2010

Entrez Id:	59
Gene Symbol:	ACTA2

ACTA2

CUI:	C3279690
Disease:	MOYAMOYA DISEASE 5

MOYAMOYA DISEASE 5

0.700

Biomarker

GENOMICS_ENGLAND

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

17994018

2007

Entrez Id:	59
Gene Symbol:	ACTA2

ACTA2

CUI:	C3279690
Disease:	MOYAMOYA DISEASE 5

MOYAMOYA DISEASE 5

0.700

Biomarker

CTD_human