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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SNORD116-15 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)
  • 110 RGD objects have been annotated to Angelman syndrome  (DOID:1932)
  • 1 papers in RGD have been used to annotate SNORD116-15
  • Curation Notes: ClinVar Annotator: match by term: Angelman syndrome
  • Original References(s): PMID:12210318, PMID:18821858, PMID:22190369, PMID:25099823, PMID:28492532

  • This annotation was curated on 2020-02-11 06:44:08.0 by RGD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.