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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SCN9A and Generalized non-motor (absence) seizure 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:13612204 (Homo sapiens)
  • 173 RGD objects have been annotated to Generalized non-motor (absence) seizure  (HP:0002121)
  • 7 papers in RGD have been used to annotate SCN9A
  • Curation Notes: ClinVar Annotator: match by term: Absence seizures
  • Original References(s): PMID:25741868


  • An association has been curated linking SCN9A and Generalized non-motor (absence) seizure in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 173 RGD objects have been annotated to Generalized non-motor (absence) seizure  (HP:0002121)
  • 7 papers in RGD have been used to annotate SCN9A
  • Original References(s): ORPHA:36387


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