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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Sf3b2 and Goldenhar 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 SF3B2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to Goldenhar syndrome  (DOID:2907)
  • 10 papers in RGD have been used to annotate Sf3b2


    • An association has been curated linking Sf3b2 and Goldenhar 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 SF3B2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to Goldenhar syndrome  (DOID:2907)
  • 10 papers in RGD have been used to annotate Sf3b2
  • Curation Notes: ClinVar Annotator: match by term: Craniofacial microsomia 1
  • Original References(s): PMID:25741868 PMID:34344887 PMID:7811205


    • An association has been curated linking Sf3b2 and Goldenhar 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 SF3B2 (Homo sapiens) [(EXP) inferred from experiment]
  • 6 RGD objects have been annotated to Goldenhar syndrome  (DOID:2907)
  • 10 papers in RGD have been used to annotate Sf3b2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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