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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking ELAC2 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:26902810 (Homo sapiens)
  • 125 RGD objects have been annotated to mitochondrial complex I deficiency  (DOID:0060536)
  • 5 papers in RGD have been used to annotate ELAC2
  • Curation Notes: ClinVar Annotator: match by term: NADH coenzyme Q reductase deficiency
  • Original References(s): PMID:25741868 PMID:27769300 PMID:28492532 PMID:31045291


    • An association has been curated linking ELAC2 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:26902812 (Homo sapiens)
  • 125 RGD objects have been annotated to mitochondrial complex I deficiency  (DOID:0060536)
  • 5 papers in RGD have been used to annotate ELAC2
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial complex I deficiency
  • Original References(s): PMID:25741868 PMID:28492532


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