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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking KCNQ2-AS1 and early infantile epileptic encephalopathy 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:14715724 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 0 papers in RGD have been used to annotate KCNQ2-AS1
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:28492532


    • An association has been curated linking KCNQ2-AS1 and early infantile epileptic encephalopathy 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:14714002 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 0 papers in RGD have been used to annotate KCNQ2-AS1
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:19822871 PMID:23360469 PMID:24811917 PMID:28492532


    • An association has been curated linking KCNQ2-AS1 and early infantile epileptic encephalopathy 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:13503945 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 0 papers in RGD have been used to annotate KCNQ2-AS1
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:19822871 PMID:28492532


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