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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CCDC78 and short-rib thoracic dysplasia 9 with or without polydactyly 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:156445806 (Homo sapiens)
  • 175 RGD objects have been annotated to short-rib thoracic dysplasia 9 with or without polydactyly  (DOID:0110097)
  • 4 papers in RGD have been used to annotate CCDC78
  • Curation Notes: ClinVar Annotator: match by term: Saldino-Mainzer syndrome
  • Original References(s): PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 PMID:26216056 PMID:28492532


    • An association has been curated linking CCDC78 and short-rib thoracic dysplasia 9 with or without polydactyly 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:156439480 (Homo sapiens)
  • 175 RGD objects have been annotated to short-rib thoracic dysplasia 9 with or without polydactyly  (DOID:0110097)
  • 4 papers in RGD have been used to annotate CCDC78
  • Curation Notes: ClinVar Annotator: match by term: Saldino-Mainzer syndrome
  • Original References(s): PMID:28492532


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