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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scn1a and focal 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 SCN1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 370 RGD objects have been annotated to focal epilepsy  (DOID:2234)
  • 18 papers in RGD have been used to annotate Scn1a
  • Curation Notes: ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness | ClinVar Annotator: match by term: Focal-onset seizure
  • Original References(s): PMID:12566275 PMID:14672992 PMID:16199547 PMID:17347258 PMID:17903680 PMID:18930999 PMID:19585586 PMID:19586930 PMID:20522430 PMID:21248271 PMID:22071555 PMID:22156295 PMID:22409937 PMID:23527921 PMID:23917401 PMID:23934111 PMID:24328833 PMID:25741868 PMID:26188943 PMID:26467025 PMID:27465585 PMID:27781031 PMID:28148630 PMID:28492532 PMID:29190809 PMID:32238909 PMID:32581362


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