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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking NIPBL and Cornelia de Lange syndrome in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with NIPBL (Homo sapiens)
  • 42 RGD objects have been annotated to Cornelia de Lange syndrome  (DOID:11725)
  • 0 papers in RGD have been used to annotate NIPBL
  • Qualifier: severity
  • Curation Notes: DNA:mutations:cds:
  • Original References(s): PMID:27125329 REF_RGD_ID:155630600


    • An association has been curated linking NIPBL and Cornelia de Lange 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 NIPBL (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 42 RGD objects have been annotated to Cornelia de Lange syndrome  (DOID:11725)
  • 0 papers in RGD have been used to annotate NIPBL
  • Curation Notes: ClinVar Annotator: match by term: Brachmann de Lange syndrome | ClinVar Annotator: match by term: De Lange syndrome | ClinVar Annotator: match by term: Typus degenerativus amstelodamensis
  • Original References(s): PMID:15318302 PMID:16199547 PMID:18414213 PMID:20824775 PMID:24038889 PMID:25741868 PMID:26467025 PMID:28492532


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