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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Kcnj5 and long QT syndrome in Mus musculus.        

  • 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 KCNJ5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 294 RGD objects have been annotated to long QT syndrome  (DOID:2843)
  • 10 papers in RGD have been used to annotate Kcnj5
  • Curation Notes: ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated
  • Original References(s): PMID:17967416 PMID:20560207 PMID:22203740 PMID:22308486 PMID:24420545 PMID:24574546 PMID:24819081 PMID:25741868 PMID:26350513 PMID:28492532 PMID:29467578 PMID:31388123


    • An association has been curated linking Kcnj5 and long QT syndrome in Mus musculus.        

  • 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 KCNJ5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 294 RGD objects have been annotated to long QT syndrome  (DOID:2843)
  • 10 papers in RGD have been used to annotate Kcnj5
  • Curation Notes: ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome
  • Original References(s): PMID:11278615 PMID:17576681 PMID:17967416 PMID:20560207 PMID:21311022 PMID:22203740 PMID:22308486 PMID:22315453 PMID:22645387 PMID:24123366 PMID:24420545 PMID:24506072 PMID:24574546 PMID:24819081 PMID:25347571 PMID:25417227 PMID:25741868 PMID:26350513 PMID:26986070 PMID:27099398 PMID:27707468 PMID:28032242 PMID:28447626 PMID:28492532 PMID:28986455 PMID:29016797 PMID:29396561 PMID:29467578 PMID:29726953 PMID:30086531 PMID:30764634 PMID:30847666 PMID:30975432 PMID:31388123 PMID:31521807 PMID:31847883 PMID:34426522 PMID:34846128 PMID:34957562 PMID:9536098


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