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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Aifm1 and combined oxidative phosphorylation deficiency 6 in Rattus norvegicus.        

  • 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 AIFM1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to combined oxidative phosphorylation deficiency 6  (DOID:0111502)
  • 32 papers in RGD have been used to annotate Aifm1


    • An association has been curated linking Aifm1 and combined oxidative phosphorylation deficiency 6 in Rattus norvegicus.        

  • 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 AIFM1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to combined oxidative phosphorylation deficiency 6  (DOID:0111502)
  • 32 papers in RGD have been used to annotate Aifm1
  • Curation Notes: ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 | ClinVar Annotator: match by term: Severe X-linked mitochondrial encephalomyopathy
  • Original References(s): PMID:17576681 PMID:20362274 PMID:20652413 PMID:22019070 PMID:24002164 PMID:25583628 PMID:25741868 PMID:25986071 PMID:26173962 PMID:26467025 PMID:28492532 PMID:31178897 PMID:31850270 PMID:32376792 PMID:34416374 PMID:9536098


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