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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking KCNA2 and developmental and epileptic encephalopathy 1 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:127287783 (Homo sapiens)
  • 74 RGD objects have been annotated to developmental and epileptic encephalopathy 1  (DOID:0080468)
  • 4 papers in RGD have been used to annotate KCNA2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1


    • An association has been curated linking KCNA2 and developmental and epileptic encephalopathy 1 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:10044827 (Homo sapiens)
  • 74 RGD objects have been annotated to developmental and epileptic encephalopathy 1  (DOID:0080468)
  • 4 papers in RGD have been used to annotate KCNA2
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1
  • Original References(s): PMID:15694325 PMID:16002579 PMID:21044565 PMID:25477152 PMID:25741868 PMID:25751627 PMID:27733563 PMID:28492532 PMID:8663992 PMID:8663993


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