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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PNPT1 and Neurodevelopmental Disorders 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:10410154 (Homo sapiens)
  • 13563 RGD objects have been annotated to Neurodevelopmental Disorders  (DOID:9004429)
  • 7 papers in RGD have been used to annotate PNPT1
  • Curation Notes: ClinVar Annotator: match by term: Neurodevelopmental disorder
  • Original References(s): PMID:11080643 PMID:25326635 PMID:25457163 PMID:25741868 PMID:28492532 PMID:30046113 PMID:30831263 PMID:31752325 PMID:32020600 PMID:32313153


    • An association has been curated linking PNPT1 and Neurodevelopmental Disorders 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:14698423|RGD:14698838 (Homo sapiens) & RGD:14698423|RGD:14698838 (Homo sapiens)
  • 13563 RGD objects have been annotated to Neurodevelopmental Disorders  (DOID:9004429)
  • 7 papers in RGD have been used to annotate PNPT1
  • Curation Notes: ClinVar Annotator: match by term: Neurodevelopmental disorder
  • Original References(s): PMID:25741868


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