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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Kcnq1 and short QT syndrome 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 KCNQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 CRRD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 30 papers in CRRD have been used to annotate Kcnq1
  • Curation Notes: ClinVar Annotator: match by term: short QT syndrome
  • Original References(s): PMID:24033266, PMID:25741868, PMID:28492532


  • An association has been curated linking Kcnq1 and short QT syndrome 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 KCNQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 CRRD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 30 papers in CRRD have been used to annotate Kcnq1
  • Curation Notes: ClinVar Annotator: match by term: short QT syndrome
  • Original References(s): PMID:11278406, PMID:15051636, PMID:15159330, PMID:20436212, PMID:22581653


  • An association has been curated linking Kcnq1 and short QT syndrome 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 KCNQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 CRRD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 30 papers in CRRD have been used to annotate Kcnq1
  • Curation Notes: ClinVar Annotator: match by term: short QT syndrome


  • An association has been curated linking Kcnq1 and short QT syndrome 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 KCNQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 CRRD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 30 papers in CRRD have been used to annotate Kcnq1
  • Curation Notes: ClinVar Annotator: match by term: short QT syndrome
  • Original References(s): PMID:19841300, PMID:22581653, PMID:25649125, PMID:25741868, PMID:25854863, PMID:26318259, PMID:28492532, PMID:29197658, PMID:31696929


  • An association has been curated linking Kcnq1 and short QT syndrome in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with KCNQ1 (Homo sapiens) [(IEA) inferred from electronic annotation]
  • 8 CRRD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 30 papers in CRRD have been used to annotate Kcnq1
  • Curation Notes: OMIM:609620 | OMIM:609621 | OMIM:609622


  • An association has been curated linking Kcnq1 and short QT syndrome 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 KCNQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 CRRD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 30 papers in CRRD have been used to annotate Kcnq1
  • Curation Notes: ClinVar Annotator: match by term: short QT syndrome
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Kcnq1 and short QT syndrome 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 KCNQ1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 CRRD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 30 papers in CRRD have been used to annotate Kcnq1
  • Curation Notes: ClinVar Annotator: match by term: short QT syndrome
  • Original References(s): PMID:17470695, PMID:19716085, PMID:19841300, PMID:21185501, PMID:22199116, PMID:22378279, PMID:22581653, PMID:22949429, PMID:23571586, PMID:24033266, PMID:24190995, PMID:25637381, PMID:25741868, PMID:25985138, PMID:26159999, PMID:28988457, PMID:29197658, PMID:30615648


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