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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking HNRNPU and Generalized Epilepsy 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:13217150 (Homo sapiens)
  • 444 RGD objects have been annotated to Generalized Epilepsy  (DOID:9001793)
  • 7 papers in RGD have been used to annotate HNRNPU
  • Curation Notes: ClinVar Annotator: match by term: Epileptic encephalopathy
  • Original References(s): PMID:22678713 PMID:25741868 PMID:28283832 PMID:28492532 PMID:28815871


    • An association has been curated linking HNRNPU and Generalized Epilepsy 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:13217149 (Homo sapiens)
  • 444 RGD objects have been annotated to Generalized Epilepsy  (DOID:9001793)
  • 7 papers in RGD have been used to annotate HNRNPU
  • Curation Notes: ClinVar Annotator: match by term: Epileptic encephalopathy
  • Original References(s): PMID:25326635 PMID:25741868 PMID:28815871


    • An association has been curated linking HNRNPU and Generalized Epilepsy 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:13217147|RGD:13217148 (Homo sapiens) & RGD:13217147|RGD:13217148 (Homo sapiens)
  • 444 RGD objects have been annotated to Generalized Epilepsy  (DOID:9001793)
  • 7 papers in RGD have been used to annotate HNRNPU
  • Curation Notes: ClinVar Annotator: match by term: Epileptic encephalopathy
  • Original References(s): PMID:28815871


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