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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking KCNQ1 and short 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:8557247 (Homo sapiens)
  • 13 RGD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 18 papers in RGD 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 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:11599048 (Homo sapiens)
  • 13 RGD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 18 papers in RGD have been used to annotate KCNQ1
  • Curation Notes: ClinVar Annotator: match by term: Short QT syndrome
  • Original References(s): PMID:17576681 PMID:25741868 PMID:26159999 PMID:28492532 PMID:9536098


    • An association has been curated linking KCNQ1 and short 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:8605334 (Homo sapiens)
  • 13 RGD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 18 papers in RGD 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 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:8691741 (Homo sapiens)
  • 13 RGD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 18 papers in RGD 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 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:11602564 (Homo sapiens)
  • 13 RGD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 18 papers in RGD have been used to annotate KCNQ1
  • Curation Notes: ClinVar Annotator: match by term: Short QT syndrome
  • Original References(s): PMID:28492532


    • An association has been curated linking KCNQ1 and short 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:8622872 (Homo sapiens)
  • 13 RGD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 18 papers in RGD 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 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:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens) & RGD:11598936|RGD:11599924|RGD:11601457|RGD:11602884|RGD:11604062|RGD:11605560|RGD:11606067|RGD:11615716|RGD:11618343|RGD:11618592|RGD:11645914|RGD:11646408|RGD:11647722|RGD:11648092|RGD:11649896|RGD:11651594|RGD:11652222|RGD:11653754|RGD:11654203|RGD:11654573|RGD:11655000 (Homo sapiens)
  • 13 RGD objects have been annotated to short QT syndrome  (DOID:0050793)
  • 18 papers in RGD have been used to annotate KCNQ1
  • Curation Notes: ClinVar Annotator: match by term: Short QT syndrome


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