DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Myopathy, Actin, Congenital, With Cores ×

Gene: ACTA1 ×

Results per page

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	58
Gene Symbol:	ACTA1

ACTA1

actin alpha 1, skeletal muscle

0.540

0.769

1.1E-06

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

Myopathy, Actin, Congenital, With Cores

disease

0.600

strong

1.000

0

2009

2011