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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PTGES2-AS1 and congenital disorder of glycosylation Iu 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:14702060 (Homo sapiens)
  • 29 CRRD objects have been annotated to congenital disorder of glycosylation Iu  (DOID:0080571)
  • 1 papers in CRRD have been used to annotate PTGES2-AS1
  • Curation Notes: ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u
  • Original References(s): PMID:28492532

  • This annotation was curated on 2020-03-26 10:17:52.0 by CRRD . 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.