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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Dlat and Pyruvate Dehydrogenase E2 Deficiency 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 DLAT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 23 RGD objects have been annotated to Pyruvate Dehydrogenase E2 Deficiency  (DOID:9008243)
  • 2 papers in RGD have been used to annotate Dlat


    • An association has been curated linking Dlat and Pyruvate Dehydrogenase E2 Deficiency 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 DLAT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 23 RGD objects have been annotated to Pyruvate Dehydrogenase E2 Deficiency  (DOID:9008243)
  • 2 papers in RGD have been used to annotate Dlat
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency
  • Original References(s): PMID:16049940 PMID:16199547 PMID:17576681 PMID:20022530 PMID:23021068 PMID:25741868 PMID:28492532 PMID:29093066 PMID:35094435 PMID:9536098


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