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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking NKX2-5 and long QT 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:9589242 (Homo sapiens)
  • 359 RGD objects have been annotated to long QT syndrome  (DOID:2843)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Long QT syndrome
  • Original References(s): PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 PMID:30611920


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