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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Casq1 and Vacuolar Myopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with CASQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Vacuolar Myopathy  (DOID:9005189)
  • 19 papers in RGD have been used to annotate Casq1


    • An association has been curated linking Casq1 and Vacuolar Myopathy 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 CASQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Vacuolar Myopathy  (DOID:9005189)
  • 19 papers in RGD have been used to annotate Casq1
  • Curation Notes: ClinVar Annotator: match by term: Myopathy, vacuolar, with casq1 aggregates
  • Original References(s): PMID:16714317 PMID:25116801 PMID:25741868 PMID:26136523 PMID:26416891 PMID:28492532


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