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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scn1a and benign epilepsy with centrotemporal spikes 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 SCN1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 48 RGD objects have been annotated to benign epilepsy with centrotemporal spikes  (DOID:3329)
  • 0 papers in RGD have been used to annotate Scn1a
  • Curation Notes: ClinVar Annotator: match by term: Rolandic epilepsy
  • Original References(s): PMID:11254445 PMID:12610651 PMID:18021921 PMID:19200853 PMID:19522081 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23195492 PMID:23398611 PMID:24679980 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 PMID:31765958


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