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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Catsper1 and glycogen storage disease V in Ictidomys tridecemlineatus.        

  • 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 CATSPER1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 78 RGD objects have been annotated to glycogen storage disease V  (DOID:2746)
  • 0 papers in RGD have been used to annotate Catsper1
  • Curation Notes: ClinVar Annotator: match by term: Glycogen storage disease, type V
  • Original References(s): PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 PMID:8316268


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