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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Plpbp and early-onset vitamin B6-dependent epilepsy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with PLPBP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to early-onset vitamin B6-dependent epilepsy  (DOID:0080769)
  • 5 papers in RGD have been used to annotate Plpbp
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, early-onset, vitamin B6-dependent
  • Original References(s): PMID:25741868 PMID:27912044


    • An association has been curated linking Plpbp and early-onset vitamin B6-dependent epilepsy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with PLPBP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to early-onset vitamin B6-dependent epilepsy  (DOID:0080769)
  • 5 papers in RGD have been used to annotate Plpbp


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