DisGeNET - a database of gene-disease associations

Gene: ACTA1 ×

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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:	58
Gene Symbol:	ACTA1

ACTA1

CUI:	C2750537
Disease:	Myopathy, Actin, Congenital, With Cores

Myopathy, Actin, Congenital, With Cores

0.600

Biomarker

MGD

Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.

2011