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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Polr3a and hypomyelinating leukodystrophy 8 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 POLR3A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to hypomyelinating leukodystrophy 8  (DOID:0060797)
  • 10 papers in RGD have been used to annotate Polr3a
  • Curation Notes: ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome
  • Original References(s): PMID:21855841 PMID:22855961 PMID:25741868 PMID:27029625 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30847471 PMID:31637490 PMID:32373668 PMID:32597037 PMID:33491183 PMID:36344503


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