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1 Annotations Found.

An association has been curated linking Phka1 and X-linked spinocerebellar ataxia 1 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 PHKA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to X-linked spinocerebellar ataxia 1  (DOID:0111829)
  • 16 papers in RGD have been used to annotate Phka1
  • Curation Notes: ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked
  • Original References(s): PMID:26242992

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