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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TPRN 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:26898239 (Homo sapiens)
  • 132 RGD objects have been annotated to developmental and epileptic encephalopathy 14  (DOID:0080439)
  • 5 papers in RGD have been used to annotate TPRN
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14
  • Original References(s): PMID:19264732 PMID:27891178 PMID:28492532


  • An association has been curated linking TPRN 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:156439718 (Homo sapiens)
  • 132 RGD objects have been annotated to developmental and epileptic encephalopathy 14  (DOID:0080439)
  • 5 papers in RGD have been used to annotate TPRN
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14
  • Original References(s): PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532


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