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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pnldc1 and 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 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 PNLDC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 26 RGD objects have been annotated to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  (DOID:0110001)
  • 4 papers in RGD have been used to annotate Pnldc1
  • Curation Notes: ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
  • Original References(s): PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532


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