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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ryr3 and Generalized Epilepsy 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 RYR3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 470 RGD objects have been annotated to Generalized Epilepsy  (DOID:9001793)
  • 14 papers in RGD have been used to annotate Ryr3
  • Curation Notes: ClinVar Annotator: match by term: Epileptic encephalopathy
  • Original References(s): PMID:16199547 PMID:17576681 PMID:25262651 PMID:25640679 PMID:25741868 PMID:28492532 PMID:29498452 PMID:29720203 PMID:31230720 PMID:34480478 PMID:9536098


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