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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking KCNH2 and Torsades de Pointes in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 6 RGD objects have been annotated to Torsades de Pointes  (DOID:9005444)
  • 8 papers in RGD have been used to annotate KCNH2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:15043509 PMID:15213294 PMID:20034863


    • An association has been curated linking KCNH2 and Torsades de Pointes 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:8602914 (Homo sapiens)
  • 6 RGD objects have been annotated to Torsades de Pointes  (DOID:9005444)
  • 8 papers in RGD have been used to annotate KCNH2
  • Curation Notes: ClinVar Annotator: match by term: Torsades de pointes
  • Original References(s): PMID:11468227 PMID:12775564 PMID:14661677 PMID:14975928 PMID:15522280 PMID:16487223 PMID:17161064 PMID:17210839 PMID:17275752 PMID:19019189 PMID:19673885 PMID:19841300 PMID:20167303 PMID:22581653 PMID:23303164 PMID:23861362 PMID:24596401 PMID:25741868 PMID:26467025 PMID:26746457 PMID:27153395 PMID:28472724 PMID:28492532 PMID:29752375 PMID:29759541


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