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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Trdn and catecholaminergic polymorphic ventricular tachycardia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Roux-Buisson N, etal., Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14.
  • The annotation has been inferred from sequence orthology with TRDN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 additional annotations were made from Roux-Buisson N, etal., Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14.
  • 29 RGD objects have been annotated to catecholaminergic polymorphic ventricular tachycardia  (DOID:0060674)
  • 20 papers in RGD have been used to annotate Trdn
  • Curation Notes: DNA:nonsense mutation, missense mutation, deletion:exons:p.Q205X, p.T59R, c.del53_56ACAG (human)


    • An association has been curated linking Trdn and catecholaminergic polymorphic ventricular tachycardia 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 TRDN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 29 RGD objects have been annotated to catecholaminergic polymorphic ventricular tachycardia  (DOID:0060674)
  • 20 papers in RGD have been used to annotate Trdn
  • Curation Notes: ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
  • Original References(s): PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:21520333 PMID:22406018 PMID:22422768 PMID:22909776 PMID:23035052 PMID:24033266 PMID:25326635 PMID:25640679 PMID:25650408 PMID:25741868 PMID:25922419 PMID:26200674 PMID:26768964 PMID:28492532 PMID:30649896 PMID:31437535 PMID:9536098


    • An association has been curated linking Trdn and catecholaminergic polymorphic ventricular tachycardia 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 TRDN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 29 RGD objects have been annotated to catecholaminergic polymorphic ventricular tachycardia  (DOID:0060674)
  • 20 papers in RGD have been used to annotate Trdn
  • Curation Notes: ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia
  • Original References(s): PMID:16199547 PMID:17576681 PMID:19403623 PMID:19763152 PMID:20307669 PMID:21520333 PMID:22406018 PMID:22422768 PMID:23035052 PMID:24025405 PMID:24033266 PMID:25326635 PMID:25650408 PMID:25741868 PMID:25922419 PMID:26200674 PMID:26768964 PMID:27538377 PMID:28341588 PMID:28492532 PMID:30649896 PMID:30847666 PMID:31589614 PMID:31847883 PMID:31980526 PMID:32746448 PMID:33432171 PMID:33895855 PMID:36203036 PMID:9536098


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