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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scn1a and epilepsy with generalized tonic-clonic seizures in Mus musculus.        

  • 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]
  • 23 RGD objects have been annotated to epilepsy with generalized tonic-clonic seizures  (DOID:7725)
  • 10 papers in RGD have been used to annotate Scn1a
  • Curation Notes: ClinVar Annotator: match by term: Generalized tonic-clonic seizures
  • Original References(s): PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:24679980 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 PMID:31765958


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