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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking COL6A2 and myopathy in Sus scrofa.        

  • 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 COL6A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 980 RGD objects have been annotated to myopathy  (DOID:423)
  • 0 papers in RGD have been used to annotate COL6A2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy
  • Original References(s): PMID:19884007 PMID:19949035 PMID:25741868 PMID:28492532 PMID:29419890 PMID:31127727 PMID:33481221


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