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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking VARS2 and combined oxidative phosphorylation deficiency 20 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 VARS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to combined oxidative phosphorylation deficiency 20  (DOID:0111478)
  • 0 papers in RGD have been used to annotate VARS2


    • An association has been curated linking VARS2 and combined oxidative phosphorylation deficiency 20 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 VARS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to combined oxidative phosphorylation deficiency 20  (DOID:0111478)
  • 0 papers in RGD have been used to annotate VARS2
  • Curation Notes: ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 | ClinVar Annotator: match by term: VARS2-related condition | ClinVar Annotator: match by term: VARS2-related disorders
  • Original References(s): PMID:12345 PMID:16199547 PMID:24639874 PMID:24827421 PMID:25058219 PMID:25741868 PMID:27290639 PMID:27502409 PMID:28492532 PMID:29313548 PMID:29314548 PMID:29478218 PMID:30458719 PMID:30925032 PMID:31064326 PMID:31623496 PMID:33937156 PMID:34216551 PMID:34362006


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