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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scn2a and developmental and epileptic encephalopathy in Rattus norvegicus.        

  • 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 SCN2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1128 RGD objects have been annotated to developmental and epileptic encephalopathy  (DOID:0112202)
  • 27 papers in RGD have been used to annotate Scn2a
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy
  • Original References(s): PMID:15048894 PMID:15133511 PMID:16865694 PMID:17021166 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18479388 PMID:18479393 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20371507 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:23935176 PMID:24650168 PMID:24876116 PMID:25253744 PMID:25439579 PMID:25492405 PMID:25524840 PMID:25741868 PMID:25995458 PMID:26068938 PMID:26993267 PMID:27491411 PMID:27779742 PMID:27781031 PMID:28379373 PMID:28492532 PMID:28709814 PMID:29068549 PMID:29100083 PMID:29655203 PMID:30381472 PMID:30619928 PMID:31054490 PMID:31302675 PMID:31780880 PMID:31904120 PMID:31904126 PMID:32400968 PMID:34782754 PMID:35431799 PMID:36684540 PMID:37578743


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