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GENE - TERM ANNOTATION REPORT

20 Annotations Found.

An association has been curated linking DES and dilated cardiomyopathy in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Milner DJ, etal., J Mol Cell Cardiol. 1999 Nov;31(11):2063-76.
  • The annotation has been inferred from sequence orthology with Des (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 8 additional annotations were made from Milner DJ, etal., J Mol Cell Cardiol. 1999 Nov;31(11):2063-76.
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES


  • An association has been curated linking DES and dilated cardiomyopathy in Homo sapiens.        

  • The association was inferred from expression pattern (IEP)
  •  
  • The annotation was made from Deliu RC, etal., Rom J Morphol Embryol. 2017;58(4):1309-1315.
  • 2 additional annotations were made from Deliu RC, etal., Rom J Morphol Embryol. 2017;58(4):1309-1315.
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: protein:altered expression:cardiomyocyte:


  • An association has been curated linking DES and dilated cardiomyopathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Yu R, etal., Cardiology. 2017;137(2):78-82. doi: 10.1159/000455181. Epub 2017 Feb 8.
  • 2 additional annotations were made from Yu R, etal., Cardiology. 2017;137(2):78-82. doi: 10.1159/000455181. Epub 2017 Feb 8.
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: DNA:mutation:cds:c.679C>T(p.R227C)(human)


  • An association has been curated linking DES and dilated cardiomyopathy 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:11551724 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking DES and dilated cardiomyopathy 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:8607070 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:17325244 PMID:20474083 PMID:20981092 PMID:22337857 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25617006 PMID:25741868 PMID:26467025 PMID:27896284 PMID:28492532


  • An association has been curated linking DES and dilated cardiomyopathy 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:8607091 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
  • Original References(s): PMID:20474083 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking DES and dilated cardiomyopathy 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:8622301 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:17325244 PMID:23861362 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29926427 PMID:32093415


  • An association has been curated linking DES and dilated cardiomyopathy 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:8607092 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:17325244 PMID:19181099 PMID:22337857 PMID:23143191 PMID:23299917 PMID:24503780 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30615648 PMID:32403337 PMID:34426522


  • An association has been curated linking DES and dilated cardiomyopathy 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:10057384 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic
  • Original References(s): PMID:25741868 PMID:28074886 PMID:28492532 PMID:30847666


  • An association has been curated linking DES and dilated cardiomyopathy 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:8622291 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:20696008 PMID:24033266 PMID:25741868 PMID:28492532


  • An association has been curated linking DES and dilated cardiomyopathy 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:8622281 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:17221859 PMID:18653338 PMID:19151983 PMID:20171226 PMID:20423733 PMID:20448486 PMID:22106715 PMID:22153487 PMID:22403400 PMID:23349452 PMID:24033266 PMID:25557463 PMID:25741868 PMID:26467025 PMID:27810088 PMID:27854218 PMID:28256728 PMID:28492532 PMID:28611029 PMID:29915714 PMID:30023281 PMID:31912959


  • An association has been curated linking DES and dilated cardiomyopathy 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:8607092 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:17325244 PMID:19181099 PMID:22337857 PMID:23143191 PMID:23299917 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30615648 PMID:32403337 PMID:34426522


  • An association has been curated linking DES and dilated cardiomyopathy 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:8622297 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive
  • Original References(s): PMID:10717012 PMID:11073539 PMID:14724127 PMID:17576681 PMID:22153487 PMID:22275259 PMID:22484823 PMID:23155419 PMID:24033266 PMID:24503780 PMID:27532257 PMID:28492532 PMID:31609036 PMID:9382102 PMID:9536098


  • An association has been curated linking DES and dilated cardiomyopathy 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:9689801 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:11073539 PMID:12620971 PMID:19716701 PMID:20696008 PMID:22153487 PMID:23575897 PMID:23815709 PMID:24033266 PMID:28492532


  • An association has been curated linking DES and dilated cardiomyopathy 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:9689093 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:10717012 PMID:11073539 PMID:12620971 PMID:14724127 PMID:19587455 PMID:19716701 PMID:20696008 PMID:22153487 PMID:23575897 PMID:23815709 PMID:24033266 PMID:24503780 PMID:25590979 PMID:28492532 PMID:33874732


  • An association has been curated linking DES and dilated cardiomyopathy 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:8607078 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:17720647 PMID:18061454 PMID:19763525 PMID:19879535 PMID:22215463 PMID:22403400 PMID:23349452 PMID:24033266 PMID:24088041 PMID:26097489 PMID:26633545 PMID:28492532


  • An association has been curated linking DES and dilated cardiomyopathy 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:11040381|RGD:11590218|RGD:11665228|RGD:38597499 (Homo sapiens) & RGD:11040381|RGD:11590218|RGD:11665228|RGD:38597499 (Homo sapiens) & RGD:11040381|RGD:11590218|RGD:11665228|RGD:38597499 (Homo sapiens) & RGD:11040381|RGD:11590218|RGD:11665228|RGD:38597499 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy


  • An association has been curated linking DES and dilated cardiomyopathy 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:11665228 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant
  • Original References(s): PMID:25741868


  • An association has been curated linking DES and dilated cardiomyopathy 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:11040381|RGD:11590218|RGD:38597499 (Homo sapiens) & RGD:11040381|RGD:11590218|RGD:38597499 (Homo sapiens) & RGD:11040381|RGD:11590218|RGD:38597499 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy


  • An association has been curated linking DES and dilated cardiomyopathy 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:8607062 (Homo sapiens)
  • 767 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 14 papers in RGD have been used to annotate DES
  • Curation Notes: ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:15800015 PMID:17325244 PMID:17439987 PMID:20448486 PMID:24033266 PMID:25394388 PMID:25741868 PMID:27393313 PMID:28416588 PMID:28492532 PMID:29247119 PMID:29386531 PMID:29926427 PMID:31983221 PMID:33373648 PMID:33823640


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