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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SNORD116-2 and Angelman syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:13819499 (Homo sapiens)
  • 181 RGD objects have been annotated to Angelman syndrome  (DOID:1932)
  • 1 papers in RGD have been used to annotate SNORD116-2
  • Curation Notes: ClinVar Annotator: match by term: Angelman syndrome
  • Original References(s): PMID:12210318 PMID:18821858 PMID:22190369 PMID:25099823 PMID:25212744 PMID:28492532


  • An association has been curated linking SNORD116-2 and Angelman syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:151663622 (Homo sapiens)
  • 181 RGD objects have been annotated to Angelman syndrome  (DOID:1932)
  • 1 papers in RGD have been used to annotate SNORD116-2
  • Curation Notes: ClinVar Annotator: match by term: Angelman syndrome


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