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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Lrpprc and French Canadian Leigh disease 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 LRPPRC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to French Canadian Leigh disease  (DOID:0111180)
  • 11 papers in RGD have been used to annotate Lrpprc


    • An association has been curated linking Lrpprc and French Canadian Leigh disease 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 LRPPRC (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to French Canadian Leigh disease  (DOID:0111180)
  • 11 papers in RGD have been used to annotate Lrpprc
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:12529507


    • An association has been curated linking Lrpprc and French Canadian Leigh disease 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 LRPPRC (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to French Canadian Leigh disease  (DOID:0111180)
  • 11 papers in RGD have been used to annotate Lrpprc
  • Curation Notes: ClinVar Annotator: match by term: Cox deficiency, French Canadian type | ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type | ClinVar Annotator: match by term: Leigh syndrome, French Canadian type | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian
  • Original References(s): PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 PMID:17576681 PMID:18414213 PMID:20200222 PMID:21266382 PMID:21437181 PMID:22494076 PMID:24033266 PMID:25741868 PMID:26510951 PMID:26741492 PMID:27408822 PMID:27574110 PMID:28492532 PMID:29152527 PMID:31308188 PMID:32962729 PMID:33658040 PMID:34440436 PMID:9536098


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