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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Tbc1d20 and Polyglucosan Body Myopathy 1 with or without Immunodeficiency 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 TBC1D20 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to Polyglucosan Body Myopathy 1 with or without Immunodeficiency  (DOID:9007616)
  • 6 papers in RGD have been used to annotate Tbc1d20
  • Curation Notes: ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency
  • Original References(s): PMID:23104095 PMID:2379848 PMID:23889995 PMID:28492532


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