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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Itpr1 and autosomal dominant cerebellar ataxia 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 ITPR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 87 RGD objects have been annotated to autosomal dominant cerebellar ataxia  (DOID:1441)
  • 67 papers in RGD have been used to annotate Itpr1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia
  • Original References(s): PMID:17590087 PMID:19423733 PMID:20437544 PMID:21367767 PMID:21555639 PMID:25741868 PMID:26467025 PMID:27108797 PMID:28492532 PMID:28659154 PMID:28660440 PMID:29186133 PMID:29232918 PMID:29758065 PMID:29925855 PMID:30564305 PMID:30778698


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