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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Lias and Hyperglycinemia, Lactic Acidosis, and Seizures in Chinchilla lanigera.        

  • 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 LIAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 2 papers in RGD have been used to annotate Lias


    • An association has been curated linking Lias and Hyperglycinemia, Lactic Acidosis, and Seizures in Chinchilla lanigera.        

  • 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 LIAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 RGD objects have been annotated to Hyperglycinemia, Lactic Acidosis, and Seizures  (DOID:9000776)
  • 2 papers in RGD have been used to annotate Lias
  • 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:16199547 PMID:17576681 PMID:2152680 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26108146 PMID:26467025 PMID:26934580 PMID:27923773 PMID:28492532 PMID:28817111 PMID:36680912 PMID:9536098


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