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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Mt-nd1 and MELAS syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kirby DM, etal., J Med Genet. 2004 Oct;41(10):784-9.
  • The annotation has been inferred from sequence orthology with MT-ND1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Kirby DM, etal., J Med Genet. 2004 Oct;41(10):784-9.
  • 15 RGD objects have been annotated to MELAS syndrome  (DOID:3687)
  • 44 papers in RGD have been used to annotate Mt-nd1
  • Curation Notes: DNA:snps:cds:m.3697G>A, m.3946G>A, m.3949T>C (human)


    • An association has been curated linking Mt-nd1 and MELAS syndrome in Rattus norvegicus.        

  • 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-ND1 (Homo sapiens) [(EXP) inferred from experiment]
  • 15 RGD objects have been annotated to MELAS syndrome  (DOID:3687)
  • 44 papers in RGD have been used to annotate Mt-nd1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Mt-nd1 and MELAS syndrome 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 MT-ND1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 RGD objects have been annotated to MELAS syndrome  (DOID:3687)
  • 44 papers in RGD have been used to annotate Mt-nd1
  • 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:15466014 PMID:15972314 PMID:16849371 PMID:16969869 PMID:17535832 PMID:17562939 PMID:18504678 PMID:18590963 PMID:18977334 PMID:20301353 PMID:21364701 PMID:24830958 PMID:25741868 PMID:30143805


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