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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gys2 and glycogen storage disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Orho M, etal., J Clin Invest. 1998 Aug 1;102(3):507-15.
  • The annotation has been inferred from sequence orthology with GYS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Orho M, etal., J Clin Invest. 1998 Aug 1;102(3):507-15.
  • 264 RGD objects have been annotated to glycogen storage disease  (DOID:2747)
  • 24 papers in RGD have been used to annotate Gys2
  • Curation Notes: Glycogen storage disease type 0, OMIM:240600


    • An association has been curated linking Gys2 and glycogen storage disease 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 GYS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 264 RGD objects have been annotated to glycogen storage disease  (DOID:2747)
  • 24 papers in RGD have been used to annotate Gys2
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease
  • Original References(s): PMID:12072888 PMID:18341095 PMID:20051115 PMID:24033266 PMID:25070466 PMID:25741868 PMID:28245189 PMID:28492532 PMID:32374048 PMID:32395408 PMID:32779500 PMID:33502066 PMID:9691087


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