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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PAM16 and Rubinstein-Taybi 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 PAM16 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 88 RGD objects have been annotated to Rubinstein-Taybi syndrome  (DOID:1933)
  • 0 papers in RGD have been used to annotate PAM16
  • Curation Notes: ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation
  • Original References(s): PMID:12114483 PMID:17855048 PMID:25805166 PMID:27257017 PMID:28492532


    • An association has been curated linking PAM16 and Rubinstein-Taybi 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 PAM16 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 88 RGD objects have been annotated to Rubinstein-Taybi syndrome  (DOID:1933)
  • 0 papers in RGD have been used to annotate PAM16
  • Curation Notes: ClinVar Annotator: match by term: Rubinstein-Taybi syndrome
  • Original References(s): PMID:12114483 PMID:17855048 PMID:18688873 PMID:19833603 PMID:21302340 PMID:22307725 PMID:22664659 PMID:23063576 PMID:25805166 PMID:27257017 PMID:28492532


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