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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Kcnh2 and long QT syndrome 9 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 KCNH2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to long QT syndrome 9  (DOID:0110650)
  • 21 papers in CRRD have been used to annotate Kcnh2
  • Curation Notes: ClinVar Annotator: match by term: Long QT syndrome 2/9, digenic
  • Original References(s): PMID:14661677, PMID:15840476, PMID:17060380, PMID:19716085, PMID:19862833, PMID:22245016, PMID:22581653, PMID:23139254, PMID:23174487, PMID:23631430, PMID:23936059, PMID:24021552, PMID:24606995, PMID:25417810, PMID:25741868, PMID:25967940, PMID:26213684, PMID:28492532


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