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1 Annotations Found.

An association has been curated linking Chek2 and hypoplastic left heart syndrome in Rattus norvegicus.        

  • 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 CHEK2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 13 RGD objects have been annotated to hypoplastic left heart syndrome  (DOID:9955)
  • 38 papers in RGD have been used to annotate Chek2
  • Curation Notes: ClinVar Annotator: match by term: Hypoplastic left heart syndrome
  • Original References(s): PMID:12533788, PMID:15087378, PMID:15095295, PMID:15492928, PMID:15810020, PMID:17085682, PMID:19030985, PMID:21876083, PMID:23296741, PMID:24713400, PMID:25583358, PMID:25741868, PMID:26446916, PMID:26467025, PMID:26822949, PMID:26845104, PMID:27153395, PMID:27616075, PMID:27751358, PMID:28211887, PMID:28492532, PMID:28727877, PMID:28802053, PMID:29902706, PMID:29958926, PMID:30311386, PMID:31843900

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