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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking AFG3L2 and Spinocerebellar Ataxias in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 755 RGD objects have been annotated to Spinocerebellar Ataxias  (DOID:9002121)
  • 12 papers in RGD have been used to annotate AFG3L2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:20208537


    • An association has been curated linking AFG3L2 and Spinocerebellar Ataxias in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11618318 (Homo sapiens)
  • 755 RGD objects have been annotated to Spinocerebellar Ataxias  (DOID:9002121)
  • 12 papers in RGD have been used to annotate AFG3L2
  • Curation Notes: ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant
  • Original References(s): PMID:26467025 PMID:28492532


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