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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Rars2 and pontocerebellar hypoplasia type 1B 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 RARS2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 14 RGD objects have been annotated to pontocerebellar hypoplasia type 1B  (DOID:0060266)
  • 7 papers in RGD have been used to annotate Rars2
  • Curation Notes: ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia
  • Original References(s): PMID:16199547 PMID:17847012 PMID:20635367 PMID:20952379 PMID:22086604 PMID:22569581 PMID:24033266 PMID:25356970 PMID:25533962 PMID:25741868 PMID:26083569 PMID:26539891 PMID:26795593 PMID:26968897 PMID:26970947 PMID:2706168 PMID:27061686 PMID:27290639 PMID:27683254 PMID:28492532 PMID:29881806 PMID:31102535 PMID:31216405 PMID:31429931 PMID:31474318 PMID:31980526 PMID:32071833 PMID:32725632 PMID:32860008 PMID:33798445 PMID:33926074 PMID:33972171 PMID:34085948 PMID:34717047 PMID:34869784


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