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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Kcnq2 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 KCNQ2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 391 RGD objects have been annotated to Generalized Epilepsy  (DOID:9001793)
  • 16 papers in RGD have been used to annotate Kcnq2
  • Curation Notes: ClinVar Annotator: match by term: Epileptic encephalopathy
  • Original References(s): PMID:20437616 PMID:23621294 PMID:23692823 PMID:23934111 PMID:25052858 PMID:25262651 PMID:25326635 PMID:25741868 PMID:25880994 PMID:25959266 PMID:26007637 PMID:27535030 PMID:27602407 PMID:27864847 PMID:27905566 PMID:28133863 PMID:28492532 PMID:28973083 PMID:29186148 PMID:29655203 PMID:31418850 PMID:32179837 PMID:32581362 PMID:35104249


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