DisGeNET - a database of gene-disease associations

Actin-Accumulation Myopathy, C3711389

Variant: rs367543048 ×

Source: ALL

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:

rs367543048

ACTA1

0.700

CausalMutation

CLINVAR

Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.

26172852

2016

dbSNP:

rs367543048

ACTA1

0.700

CausalMutation

CLINVAR

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

19562689

2009

dbSNP:

rs367543048

ACTA1

0.700

CausalMutation

CLINVAR

Cognitive expectations, not habits, control anticipatory smooth oculomotor pursuit.

2617852

1989

dbSNP:

rs367543048

ACTA1

0.700

CausalMutation

CLINVAR

Diffusion of fluorescein-labelled molecules in suspensions of erythrocyte ghosts.

2462510

1988