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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking MRPS22 and combined oxidative phosphorylation deficiency 5 in Canis lupus familiaris.        

  • 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 MRPS22 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to combined oxidative phosphorylation deficiency 5  (DOID:0111473)
  • 0 papers in RGD have been used to annotate MRPS22
  • Curation Notes: ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5 | ClinVar Annotator: match by term: Hypotonia with lactic acidemia and hyperammonemia
  • Original References(s): PMID:17576681 PMID:17873122 PMID:18539099 PMID:21189481 PMID:25663021 PMID:25741868 PMID:28492532 PMID:28752220 PMID:29096039 PMID:31683770 PMID:36349561 PMID:9536098


    • An association has been curated linking MRPS22 and combined oxidative phosphorylation deficiency 5 in Canis lupus familiaris.        

  • 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 MRPS22 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to combined oxidative phosphorylation deficiency 5  (DOID:0111473)
  • 0 papers in RGD have been used to annotate MRPS22


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