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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Afg3l2 and spastic ataxia 5 in Mus musculus.        

  • 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 AFG3L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to spastic ataxia 5  (DOID:0050944)
  • 14 papers in RGD have been used to annotate Afg3l2


  • An association has been curated linking Afg3l2 and spastic ataxia 5 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with AFG3L2 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to spastic ataxia 5  (DOID:0050944)
  • 14 papers in RGD have been used to annotate Afg3l2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Afg3l2 and spastic ataxia 5 in Mus musculus.        

  • 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 AFG3L2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to spastic ataxia 5  (DOID:0050944)
  • 14 papers in RGD have been used to annotate Afg3l2
  • Curation Notes: ClinVar Annotator: match by term: Spastic ataxia 5
  • Original References(s): PMID:22022284 PMID:25401298 PMID:25741868 PMID:26454370 PMID:26467025 PMID:27165006 PMID:28492532 PMID:30773800 PMID:31111429 PMID:32219868 PMID:34333379


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