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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Scn5a and arrhythmogenic right ventricular cardiomyopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Noorman M, etal., Heart Rhythm. 2013 Mar;10(3):412-9. doi: 10.1016/j.hrthm.2012.11.018. Epub 2012 Nov 23.
  • The annotation has been inferred from sequence orthology with SCN5A (Homo sapiens) [(IEP) inferred from expression pattern]
  • 8 additional annotations were made from Noorman M, etal., Heart Rhythm. 2013 Mar;10(3):412-9. doi: 10.1016/j.hrthm.2012.11.018. Epub 2012 Nov 23.
  • 120 RGD objects have been annotated to arrhythmogenic right ventricular cardiomyopathy  (DOID:0050431)
  • 32 papers in RGD have been used to annotate Scn5a
  • Curation Notes: protein:altered expression:ventricle


    • An association has been curated linking Scn5a and arrhythmogenic right ventricular cardiomyopathy 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 SCN5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 120 RGD objects have been annotated to arrhythmogenic right ventricular cardiomyopathy  (DOID:0050431)
  • 32 papers in RGD have been used to annotate Scn5a
  • Curation Notes: ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia
  • Original References(s): PMID:10973849 PMID:11222472 PMID:12354768 PMID:12820704 PMID:14523039 PMID:15466642 PMID:15840476 PMID:15840483 PMID:15851227 PMID:16325048 PMID:16414944 PMID:16540748 PMID:17161064 PMID:17210839 PMID:18071069 PMID:18361072 PMID:18452873 PMID:19412328 PMID:19841300 PMID:20129283 PMID:20403459 PMID:20539757 PMID:20875080 PMID:22373669 PMID:22378279 PMID:22557970 PMID:22581653 PMID:23008441 PMID:23098067 PMID:23503384 PMID:23631430 PMID:23805106 PMID:23861362 PMID:24033266 PMID:24653702 PMID:25163546 PMID:25351510 PMID:25741868 PMID:25829473 PMID:25904541 PMID:25923670 PMID:26066609 PMID:26159999 PMID:26173111 PMID:26187847 PMID:26209461 PMID:26281194 PMID:26467025 PMID:26633542 PMID:26749013 PMID:27041150 PMID:27287068 PMID:28069705 PMID:28265756 PMID:28341781 PMID:28492532 PMID:28600387 PMID:28781330 PMID:29032884 PMID:29574140 PMID:30084490 PMID:31333075 PMID:31568572 PMID:31737537 PMID:32048431 PMID:32323320 PMID:32600061 PMID:33221895 PMID:33535892 PMID:34755423 PMID:35932045 PMID:36303204


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