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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SCN2A and developmental and epileptic encephalopathy 14 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:12791911 (Homo sapiens)
  • 132 RGD objects have been annotated to developmental and epileptic encephalopathy 14  (DOID:0080439)
  • 7 papers in RGD have been used to annotate SCN2A
  • Curation Notes: ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy
  • Original References(s): PMID:25741868


  • An association has been curated linking SCN2A and developmental and epileptic encephalopathy 14 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:21070790 (Homo sapiens)
  • 132 RGD objects have been annotated to developmental and epileptic encephalopathy 14  (DOID:0080439)
  • 7 papers in RGD have been used to annotate SCN2A
  • Curation Notes: ClinVar Annotator: match by term: Malignant migrating partial seizures of infancy
  • Original References(s): PMID:25741868


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