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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking NDUFS8 and mitochondrial complex I deficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10409760|RGD:11598875|RGD:11615129|RGD:12841046 (Homo sapiens) & RGD:10409760|RGD:11598875|RGD:11615129|RGD:12841046 (Homo sapiens) & RGD:10409760|RGD:11598875|RGD:11615129|RGD:12841046 (Homo sapiens) & RGD:10409760|RGD:11598875|RGD:11615129|RGD:12841046 (Homo sapiens)
  • 125 RGD objects have been annotated to mitochondrial complex I deficiency  (DOID:0060536)
  • 7 papers in RGD have been used to annotate NDUFS8
  • Curation Notes: ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking NDUFS8 and mitochondrial complex I deficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10411061 (Homo sapiens)
  • 125 RGD objects have been annotated to mitochondrial complex I deficiency  (DOID:0060536)
  • 7 papers in RGD have been used to annotate NDUFS8
  • Curation Notes: ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
  • Original References(s): PMID:20818383 PMID:25741868 PMID:26764160 PMID:28492532 PMID:30094188 PMID:33233646 PMID:35551192


    • An association has been curated linking NDUFS8 and mitochondrial complex I deficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11600632|RGD:11653406|RGD:11665664|RGD:11666456 (Homo sapiens) & RGD:11600632|RGD:11653406|RGD:11665664|RGD:11666456 (Homo sapiens) & RGD:11600632|RGD:11653406|RGD:11665664|RGD:11666456 (Homo sapiens) & RGD:11600632|RGD:11653406|RGD:11665664|RGD:11666456 (Homo sapiens)
  • 125 RGD objects have been annotated to mitochondrial complex I deficiency  (DOID:0060536)
  • 7 papers in RGD have been used to annotate NDUFS8
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial complex I deficiency


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