DisGeNET - a database of gene-disease associations

Neuromuscular Diseases, C0027868

Gene: ACTA1 ×

Source: INFERRED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121909525

ACTA1

0.700

CausalMutation

CLINVAR

Structure of the F-actin-tropomyosin complex.

25470062

2015

dbSNP:

rs121909525

ACTA1

0.700

CausalMutation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs121909525

ACTA1

0.700

CausalMutation

CLINVAR

Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).

19562689

2009

dbSNP:

rs121909525

ACTA1

0.700

CausalMutation

CLINVAR

Phenotypes of myopathy-related actin mutants in differentiated C2C12 myotubes.

17227580

2007

dbSNP:

rs121909525

ACTA1

0.700

CausalMutation

CLINVAR

Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.

15226407

2004

dbSNP:

rs121909525

ACTA1

0.700

CausalMutation

CLINVAR

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

12921789

2003