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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking HES5 and Ehlers-Danlos syndrome spondylodysplastic type 2 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 HES5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 95 RGD objects have been annotated to Ehlers-Danlos syndrome spondylodysplastic type 2  (DOID:0050802)
  • 0 papers in RGD have been used to annotate HES5
  • Curation Notes: ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2
  • Original References(s): PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 PMID:9683594


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