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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Opa1 and mitochondrial DNA depletion syndrome 14 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 OPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 14  (DOID:0080336)
  • 64 papers in RGD have been used to annotate Opa1


    • An association has been curated linking Opa1 and mitochondrial DNA depletion syndrome 14 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 OPA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 14  (DOID:0080336)
  • 64 papers in RGD have been used to annotate Opa1
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
  • Original References(s): PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:16785854 PMID:18222991 PMID:19581274 PMID:20157015 PMID:20417570 PMID:20659957 PMID:20801516 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 PMID:25641387 PMID:25741868 PMID:26206283 PMID:26385429 PMID:26467025 PMID:28492532 PMID:28812649 PMID:32025183 PMID:33546218 PMID:33884488 PMID:34242285 PMID:9490303 PMID:9917792


    • An association has been curated linking Opa1 and mitochondrial DNA depletion syndrome 14 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 OPA1 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to mitochondrial DNA depletion syndrome 14  (DOID:0080336)
  • 64 papers in RGD have been used to annotate Opa1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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