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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scn9a and generalized epilepsy with febrile seizures plus 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 SCN9A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 26 RGD objects have been annotated to generalized epilepsy with febrile seizures plus  (DOID:0060170)
  • 10 papers in RGD have been used to annotate Scn9a
  • Curation Notes: ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus
  • Original References(s): PMID:20478850 PMID:21698661 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29358611


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