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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Srp54a and Shwachman-Diamond syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SRP54 (Homo sapiens) [(EXP) inferred from experiment]
  • 6 CRRD objects have been annotated to Shwachman-Diamond syndrome  (DOID:0060479)
  • 7 papers in CRRD have been used to annotate Srp54a
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Srp54a and Shwachman-Diamond syndrome 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 SRP54 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 CRRD objects have been annotated to Shwachman-Diamond syndrome  (DOID:0060479)
  • 7 papers in CRRD have been used to annotate Srp54a
  • Curation Notes: ClinVar Annotator: match by term: Shwachman syndrome
  • Original References(s): PMID:28972538


  • An association has been curated linking Srp54a and Shwachman-Diamond syndrome 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 SRP54 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 CRRD objects have been annotated to Shwachman-Diamond syndrome  (DOID:0060479)
  • 7 papers in CRRD have been used to annotate Srp54a
  • Curation Notes: ClinVar Annotator: match by term: Shwachman syndrome
  • Original References(s): PMID:28972538, PMID:29914977


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.