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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking QPRT and spondylocostal dysostosis 5 in Canis lupus familiaris.        

  • 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 QPRT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 30 RGD objects have been annotated to spondylocostal dysostosis 5  (DOID:0112363)
  • 0 papers in RGD have been used to annotate QPRT
  • Curation Notes: ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
  • Original References(s): PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868


    • An association has been curated linking QPRT and spondylocostal dysostosis 5 in Canis lupus familiaris.        

  • 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 QPRT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 30 RGD objects have been annotated to spondylocostal dysostosis 5  (DOID:0112363)
  • 0 papers in RGD have been used to annotate QPRT
  • Curation Notes: ClinVar Annotator: match by term: Spondylocostal dysostosis 5
  • Original References(s): PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734


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