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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Kras and cardiofaciocutaneous syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Niihori T, etal., Nat Genet. 2006 Mar;38(3):294-6. Epub 2006 Feb 12.
  • The annotation has been inferred from sequence orthology with KRAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 14 additional annotations were made from Niihori T, etal., Nat Genet. 2006 Mar;38(3):294-6. Epub 2006 Feb 12.
  • 8 RGD objects have been annotated to cardiofaciocutaneous syndrome  (DOID:0060233)
  • 91 papers in RGD have been used to annotate Kras
  • Curation Notes: DNA:missense mutations:CDS:p.G60R, p.D153V (human)


    • An association has been curated linking Kras and cardiofaciocutaneous 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 KRAS (Homo sapiens) [(EXP) inferred from experiment]
  • 8 RGD objects have been annotated to cardiofaciocutaneous syndrome  (DOID:0060233)
  • 91 papers in RGD have been used to annotate Kras
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:17703371


    • An association has been curated linking Kras and cardiofaciocutaneous 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 KRAS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to cardiofaciocutaneous syndrome  (DOID:0060233)
  • 91 papers in RGD have been used to annotate Kras
  • Curation Notes: ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome
  • Original References(s): PMID:16474404 PMID:16474405 PMID:16987887 PMID:17056636 PMID:17704260 PMID:17875937 PMID:18958496 PMID:19020799 PMID:19396835 PMID:20186801 PMID:20949621 PMID:21686179 PMID:21784453 PMID:21797849 PMID:23059812 PMID:23885229 PMID:24033266 PMID:24803665 PMID:25359213 PMID:25741868 PMID:26242988 PMID:27763634 PMID:28492532 PMID:28650561 PMID:29493581 PMID:29517769 PMID:8234268


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