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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SCN9A and Dravet syndrome in Pan paniscus.        

  • 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]
  • 21 RGD objects have been annotated to Dravet syndrome  (DOID:0080422)
  • 0 papers in RGD have been used to annotate SCN9A
  • Curation Notes: ClinVar Annotator: match by term: Dravet syndrome | ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy
  • Original References(s): PMID:19763161 PMID:21698661 PMID:22136189 PMID:23280954 PMID:23895530 PMID:25250524 PMID:25741868 PMID:25993546 PMID:26264438 PMID:26467025 PMID:26675522 PMID:26920677 PMID:28235406 PMID:28440294 PMID:28492532 PMID:29264398 PMID:29911575 PMID:30316835


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