Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking RPUSD2 and Bloom syndrome in Chlorocebus sabaeus.        

  • 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 RPUSD2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 463 RGD objects have been annotated to Bloom syndrome  (DOID:2717)
  • 0 papers in RGD have been used to annotate RPUSD2
  • Curation Notes: ClinVar Annotator: match by term: Bloom syndrome
  • Original References(s): PMID:28492532


  • Go Back to source page   Continue to Ontology report