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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Acta1 and congenital structural myopathy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with ACTA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 133 RGD objects have been annotated to congenital structural myopathy  (DOID:422)
  • 13 papers in RGD have been used to annotate Acta1
  • Curation Notes: ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy
  • Original References(s): PMID:10508519 PMID:12921789 PMID:15226407 PMID:15236405 PMID:15468086 PMID:18059071 PMID:19562689 PMID:20301436 PMID:22825594 PMID:24356988 PMID:24642510 PMID:25741868 PMID:26172852 PMID:28492532


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