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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Phka2 and glycogen storage disease IXD 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 PHKA2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to glycogen storage disease IXD  (DOID:0111040)
  • 14 papers in RGD have been used to annotate Phka2
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease IXd
  • Original References(s): PMID:10330341 PMID:12862311 PMID:23578772 PMID:25741868 PMID:27103379 PMID:28492532 PMID:28627441 PMID:31508908


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