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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Chtop and severe congenital neutropenia 5 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 CHTOP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 204 RGD objects have been annotated to severe congenital neutropenia 5  (DOID:0112132)
  • 3 papers in RGD have been used to annotate Chtop
  • Curation Notes: ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome
  • Original References(s): PMID:28492532


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