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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Atp6v0a4 and Native American 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 ATP6V0A4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Native American myopathy  (DOID:0060346)
  • 12 papers in RGD have been used to annotate Atp6v0a4
  • Curation Notes: ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA
  • Original References(s): PMID:24033266 PMID:25741868


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