| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. | 25938801 | 2015 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Nemaline myopathy with dilated cardiomyopathy in childhood. | 23650303 | 2013 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. | 22442437 | 2012 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: nemaline myopathy. | 22510848 | 2012 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. | 17705262 | 2007 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. | 16427282 | 2006 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation. | 16945537 | 2006 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Missense mutations of ACTA1 cause dominant congenital myopathy with cores. | 15520409 | 2004 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. | 15236405 | 2004 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). | 15336687 | 2004 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. | 15198992 | 2004 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. | 11166164 | 2001 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. | 11333380 | 2001 | |||||
Actin-Accumulation Myopathy
|
0.800 | GeneticVariation | UNIPROT | Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. | 10508519 | 1999 | |||||
Actin-Accumulation Myopathy
|
0.800 | CausalMutation | CLINVAR |