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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pik3cd and Roifman-Chitayat Syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with PIK3CD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Roifman-Chitayat Syndrome  (DOID:9000886)
  • 22 papers in RGD have been used to annotate Pik3cd


  • An association has been curated linking Pik3cd and Roifman-Chitayat 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 PIK3CD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Roifman-Chitayat Syndrome  (DOID:9000886)
  • 22 papers in RGD have been used to annotate Pik3cd
  • Curation Notes: ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic
  • Original References(s): PMID:16984281 PMID:17576681 PMID:19863561 PMID:24136356 PMID:24165795 PMID:24610295 PMID:25352054 PMID:25741868 PMID:26437962 PMID:26732860 PMID:28492532 PMID:29180244 PMID:29921932 PMID:31045771 PMID:32581362 PMID:33995405 PMID:35189965 PMID:36703223 PMID:9536098


  • An association has been curated linking Pik3cd and Roifman-Chitayat 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 PIK3CD (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Roifman-Chitayat Syndrome  (DOID:9000886)
  • 22 papers in RGD have been used to annotate Pik3cd
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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