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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SMARCB1 and Coffin-Siris syndrome 3 in Chlorocebus sabaeus.        

  • 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 SMARCB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Coffin-Siris syndrome 3  (DOID:0070045)
  • 0 papers in RGD have been used to annotate SMARCB1


    • An association has been curated linking SMARCB1 and Coffin-Siris syndrome 3 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 SMARCB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to Coffin-Siris syndrome 3  (DOID:0070045)
  • 0 papers in RGD have been used to annotate SMARCB1
  • Curation Notes: ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3
  • Original References(s): PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 PMID:23906836 PMID:24993163 PMID:25168959 PMID:25169651 PMID:25326635 PMID:25462860 PMID:25741868 PMID:25981829 PMID:26364901 PMID:26987750 PMID:28177878 PMID:28492532 PMID:29230670 PMID:31273213 PMID:31759698 PMID:33024572


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