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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking RPS27 and Diamond-Blackfan anemia 17 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12892642 (Homo sapiens)
  • 2 RGD objects have been annotated to Diamond-Blackfan anemia 17  (DOID:0111880)
  • 4 papers in RGD have been used to annotate RPS27
  • Curation Notes: ClinVar Annotator: match by term: Diamond-Blackfan anemia 17
  • Original References(s): PMID:25424902


    • An association has been curated linking RPS27 and Diamond-Blackfan anemia 17 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to Diamond-Blackfan anemia 17  (DOID:0111880)
  • 4 papers in RGD have been used to annotate RPS27


    • An association has been curated linking RPS27 and Diamond-Blackfan anemia 17 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:151233757 (Homo sapiens)
  • 2 RGD objects have been annotated to Diamond-Blackfan anemia 17  (DOID:0111880)
  • 4 papers in RGD have been used to annotate RPS27
  • Curation Notes: ClinVar Annotator: match by term: Diamond-Blackfan anemia 17
  • Original References(s): PMID:25741868


    • An association has been curated linking RPS27 and Diamond-Blackfan anemia 17 in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 2 RGD objects have been annotated to Diamond-Blackfan anemia 17  (DOID:0111880)
  • 4 papers in RGD have been used to annotate RPS27
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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