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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Cant1 and Desbuquois dysplasia 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 CANT1 (Homo sapiens) [(EXP) inferred from experiment]
  • 8 RGD objects have been annotated to Desbuquois dysplasia  (DOID:0060462)
  • 11 papers in RGD have been used to annotate Cant1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Cant1 and Desbuquois dysplasia 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 CANT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to Desbuquois dysplasia  (DOID:0060462)
  • 11 papers in RGD have been used to annotate Cant1
  • Curation Notes: ClinVar Annotator: match by term: Desbuquois syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION
  • Original References(s): PMID:19853239 PMID:25741868 PMID:28492532


    • An association has been curated linking Cant1 and Desbuquois dysplasia in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Cant1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to Desbuquois dysplasia  (DOID:0060462)
  • 11 papers in RGD have been used to annotate Cant1
  • Curation Notes: OMIM:251450 | OMIM:615777


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