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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ndufs1 and nuclear type mitochondrial complex I deficiency 5 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 NDUFS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to nuclear type mitochondrial complex I deficiency 5  (DOID:0112068)
  • 13 papers in RGD have been used to annotate Ndufs1


  • An association has been curated linking Ndufs1 and nuclear type mitochondrial complex I deficiency 5 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 NDUFS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to nuclear type mitochondrial complex I deficiency 5  (DOID:0112068)
  • 13 papers in RGD have been used to annotate Ndufs1
  • Curation Notes: ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: NDUFS1-related condition
  • Original References(s): PMID:11349233 PMID:15824269 PMID:19167255 PMID:20382551 PMID:20819849 PMID:21203893 PMID:21458341 PMID:22200994 PMID:22310368 PMID:25615419 PMID:25741868 PMID:28492532 PMID:33547378 PMID:34716721 PMID:35012964


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