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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking UGDH and Hyperglycinemia, Lactic Acidosis, and Seizures 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:126756274|RGD:151830875 (Homo sapiens) & RGD:126756274|RGD:151830875 (Homo sapiens)
  • 26 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 7 papers in RGD have been used to annotate UGDH
  • Curation Notes: ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency
  • Original References(s): PMID:28492532


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