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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Iars1 and spinal muscular atrophy with lower extremity predominant 2A in Rattus norvegicus.        

  • 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 IARS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to spinal muscular atrophy with lower extremity predominant 2A  (DOID:0070349)
  • 7 papers in RGD have been used to annotate Iars1
  • Curation Notes: ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant
  • Original References(s): PMID:28492532


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