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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Acta1 and rigid spine muscular dystrophy 1 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]
  • 6 RGD objects have been annotated to rigid spine muscular dystrophy 1  (DOID:0110633)
  • 13 papers in RGD have been used to annotate Acta1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine
  • Original References(s): PMID:25182138 PMID:27854218


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