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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SCN1A and developmental and epileptic encephalopathy 11 in Chlorocebus sabaeus.        

  • 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]
  • 30 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 0 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11
  • Original References(s): PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21692795 PMID:21719429 PMID:22495306 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28379373 PMID:28492532 PMID:29068549


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