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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking PDXK and developmental and epileptic encephalopathy 30 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:26888848 (Homo sapiens)
  • 77 RGD objects have been annotated to developmental and epileptic encephalopathy 30  (DOID:0080465)
  • 0 papers in RGD have been used to annotate PDXK
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30
  • Original References(s): PMID:25839329 PMID:28492532


    • An association has been curated linking PDXK and developmental and epileptic encephalopathy 30 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:156447764 (Homo sapiens)
  • 77 RGD objects have been annotated to developmental and epileptic encephalopathy 30  (DOID:0080465)
  • 0 papers in RGD have been used to annotate PDXK
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30
  • Original References(s): PMID:28492532 PMID:8596935


    • An association has been curated linking PDXK and developmental and epileptic encephalopathy 30 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:126922491|RGD:14705941|RGD:151759213|RGD:26907778 (Homo sapiens) & RGD:126922491|RGD:14705941|RGD:151759213|RGD:26907778 (Homo sapiens) & RGD:126922491|RGD:14705941|RGD:151759213|RGD:26907778 (Homo sapiens) & RGD:126922491|RGD:14705941|RGD:151759213|RGD:26907778 (Homo sapiens)
  • 77 RGD objects have been annotated to developmental and epileptic encephalopathy 30  (DOID:0080465)
  • 0 papers in RGD have been used to annotate PDXK
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30
  • Original References(s): PMID:28492532


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