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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Smarcc2 and Coffin-Siris syndrome 8 in Ictidomys tridecemlineatus.        

  • 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 SMARCC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Coffin-Siris syndrome 8  (DOID:0112367)
  • 0 papers in RGD have been used to annotate Smarcc2


    • An association has been curated linking Smarcc2 and Coffin-Siris syndrome 8 in Ictidomys tridecemlineatus.        

  • 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 SMARCC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Coffin-Siris syndrome 8  (DOID:0112367)
  • 0 papers in RGD have been used to annotate Smarcc2
  • Curation Notes: ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition
  • Original References(s): PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 PMID:30580808 PMID:33004838 PMID:33461977 PMID:35699097 PMID:37352859


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