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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking SNORD113-2 and Kagami-Ogata 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:9687354 (Homo sapiens)
  • 104 RGD objects have been annotated to Kagami-Ogata syndrome  (DOID:0111712)
  • 1 papers in RGD have been used to annotate SNORD113-2
  • Curation Notes: ClinVar Annotator: match by term: Uniparental disomy, paternal, chromosome 14
  • Original References(s): PMID:18176563


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