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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TPK1 and Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) in Pan paniscus.        

  • 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 TPK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  (DOID:9003549)
  • 0 papers in RGD have been used to annotate TPK1


    • An association has been curated linking TPK1 and Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) in Pan paniscus.        

  • 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 TPK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)  (DOID:9003549)
  • 0 papers in RGD have been used to annotate TPK1
  • Curation Notes: ClinVar Annotator: match by term: ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY | ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
  • Original References(s): PMID:16199547 PMID:17576681 PMID:22152682 PMID:25106414 PMID:25458521 PMID:25640679 PMID:25741868 PMID:26975778 PMID:28431625 PMID:28492532 PMID:28747443 PMID:28856750 PMID:30483896 PMID:30789823 PMID:31288420 PMID:31404531 PMID:32679198 PMID:33086386 PMID:9536098


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