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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking MTO1 and combined oxidative phosphorylation deficiency 10 in Pan paniscus.        

  • 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 MTO1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to combined oxidative phosphorylation deficiency 10  (DOID:0111480)
  • 0 papers in RGD have been used to annotate MTO1


  • An association has been curated linking MTO1 and combined oxidative phosphorylation deficiency 10 in Pan paniscus.        

  • 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 MTO1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to combined oxidative phosphorylation deficiency 10  (DOID:0111480)
  • 0 papers in RGD have been used to annotate MTO1
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • Original References(s): PMID:16199547 PMID:17576681 PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25552653 PMID:25640679 PMID:25741868 PMID:25741892 PMID:26061759 PMID:26539891 PMID:27151179 PMID:27256614 PMID:28492532 PMID:29331171 PMID:29440775 PMID:30369941 PMID:30831263 PMID:31451716 PMID:31842146 PMID:33258288 PMID:33586140 PMID:34990597 PMID:9536098


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