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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Ndufs4 and Leigh disease in Ictidomys tridecemlineatus.        

  • 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 NDUFS4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 170 RGD objects have been annotated to Leigh disease  (DOID:3652)
  • 0 papers in RGD have been used to annotate Ndufs4
  • Curation Notes: ClinVar Annotator: match by term: Leigh syndrome
  • Original References(s): PMID:10944442 PMID:11112787 PMID:12616398 PMID:12944388 PMID:14765537 PMID:15269216 PMID:16213125 PMID:17383918 PMID:18804471 PMID:19107570 PMID:19364667 PMID:20818383 PMID:22033105 PMID:22200994 PMID:22326555 PMID:24020637 PMID:25741868 PMID:27079373 PMID:28492532 PMID:30634555 PMID:32860008 PMID:34849584 PMID:9463323


    • An association has been curated linking Ndufs4 and Leigh disease in Ictidomys tridecemlineatus.        

  • 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 NDUFS4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 170 RGD objects have been annotated to Leigh disease  (DOID:3652)
  • 0 papers in RGD have been used to annotate Ndufs4
  • Curation Notes: ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
  • Original References(s): PMID:10944442 PMID:11112787 PMID:12616398 PMID:12944388 PMID:14765537 PMID:15269216 PMID:16213125 PMID:17383918 PMID:18804471 PMID:19107570 PMID:19364667 PMID:20818383 PMID:22033105 PMID:22200994 PMID:22326555 PMID:24020637 PMID:25741868 PMID:27079373 PMID:28492532 PMID:30634555 PMID:31292494 PMID:31386302 PMID:32860008 PMID:34849584 PMID:9463323


    • An association has been curated linking Ndufs4 and Leigh disease in Ictidomys tridecemlineatus.        

  • 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 NDUFS4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 170 RGD objects have been annotated to Leigh disease  (DOID:3652)
  • 0 papers in RGD have been used to annotate Ndufs4
  • Curation Notes: ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy
  • Original References(s): PMID:10944442 PMID:11112787 PMID:12616398 PMID:12944388 PMID:14765537 PMID:15269216 PMID:16199547 PMID:16213125 PMID:17383918 PMID:18804471 PMID:19107570 PMID:19364667 PMID:20818383 PMID:22033105 PMID:22200994 PMID:22326555 PMID:24020637 PMID:25741868 PMID:27079373 PMID:28492532 PMID:30634555 PMID:31292494 PMID:31386302 PMID:32860008 PMID:34849584 PMID:9463323


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