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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Esco2 and Juberg Hayward Syndrome 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 ESCO2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to Juberg Hayward Syndrome  (DOID:9005190)
  • 0 papers in RGD have been used to annotate Esco2


    • An association has been curated linking Esco2 and Juberg Hayward Syndrome 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 ESCO2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to Juberg Hayward Syndrome  (DOID:9005190)
  • 0 papers in RGD have been used to annotate Esco2
  • Curation Notes: ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Juberg-Hayward syndrome | ClinVar Annotator: match by term: Orocraniodigital syndrome
  • Original References(s): PMID:15821733 PMID:16380922 PMID:1642282 PMID:18411254 PMID:18414213 PMID:20301332 PMID:25741868 PMID:28492532 PMID:30508616 PMID:32255174 PMID:32977150


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