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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking mt-Co1 and MELAS syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with MT-CO1 (Homo sapiens) [(EXP) inferred from experiment]
  • 37 RGD objects have been annotated to MELAS syndrome  (DOID:3687)
  • 12 papers in RGD have been used to annotate mt-Co1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking mt-Co1 and MELAS syndrome 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 MT-CO1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 37 RGD objects have been annotated to MELAS syndrome  (DOID:3687)
  • 12 papers in RGD have been used to annotate mt-Co1
  • Curation Notes: ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | ClinVar Annotator: match by term: Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
  • Original References(s): PMID:11069477 PMID:11175301 PMID:127819 PMID:19568996 PMID:20301595 PMID:31965079 PMID:32906214 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 PMID:8572257 PMID:9450881 PMID:9742104


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