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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking KCNJ5 and Andersen-Tawil 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:8568128 (Homo sapiens)
  • 3 RGD objects have been annotated to Andersen-Tawil syndrome  (DOID:0050434)
  • 7 papers in RGD have been used to annotate KCNJ5
  • Curation Notes: ClinVar Annotator: match by term: Andersen Tawil syndrome
  • Original References(s): PMID:21311022 PMID:22203740 PMID:24574546


    • An association has been curated linking KCNJ5 and Andersen-Tawil 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:8560730 (Homo sapiens)
  • 3 RGD objects have been annotated to Andersen-Tawil syndrome  (DOID:0050434)
  • 7 papers in RGD have been used to annotate KCNJ5
  • Curation Notes: ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
  • Original References(s): PMID:20560207 PMID:24574546 PMID:25417227 PMID:25741868 PMID:28492532 PMID:30764634 PMID:31521807


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