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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Rgs12 and Ellis-Van Creveld syndrome in Chinchilla lanigera.        

  • 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 RGS12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 50 RGD objects have been annotated to Ellis-Van Creveld syndrome  (DOID:12714)
  • 1 papers in RGD have been used to annotate Rgs12
  • Curation Notes: ClinVar Annotator: match by term: Ellis-van Creveld syndrome
  • Original References(s): PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532


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