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1 Annotations Found.

An association has been curated linking Ugdh and Hyperglycinemia, Lactic Acidosis, and Seizures 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 UGDH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 13 papers in RGD have been used to annotate Ugdh
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
  • Original References(s): PMID:28492532

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