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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking PKP2 and familial hypertrophic 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:8607902 (Homo sapiens)
  • 193 RGD objects have been annotated to familial hypertrophic cardiomyopathy  (DOID:0080326)
  • 9 papers in RGD have been used to annotate PKP2
  • Curation Notes: ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
  • Original References(s): PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking PKP2 and familial hypertrophic 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:8607840 (Homo sapiens)
  • 193 RGD objects have been annotated to familial hypertrophic cardiomyopathy  (DOID:0080326)
  • 9 papers in RGD have been used to annotate PKP2
  • Curation Notes: ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
  • Original References(s): PMID:19955750 PMID:20031616 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532


    • An association has been curated linking PKP2 and familial hypertrophic 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:8607844 (Homo sapiens)
  • 193 RGD objects have been annotated to familial hypertrophic cardiomyopathy  (DOID:0080326)
  • 9 papers in RGD have been used to annotate PKP2
  • Curation Notes: ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
  • Original References(s): PMID:20031617 PMID:20152563 PMID:20857253 PMID:21062920 PMID:21606390 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:26676851 PMID:28492532 PMID:31539150


    • An association has been curated linking PKP2 and familial hypertrophic 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:8607868 (Homo sapiens)
  • 193 RGD objects have been annotated to familial hypertrophic cardiomyopathy  (DOID:0080326)
  • 9 papers in RGD have been used to annotate PKP2
  • Curation Notes: ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
  • Original References(s): PMID:22170284 PMID:24033266 PMID:24352520 PMID:25395996 PMID:25741868 PMID:27085656 PMID:27711072 PMID:28341588 PMID:28492532


    • An association has been curated linking PKP2 and familial hypertrophic 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:9832474 (Homo sapiens)
  • 193 RGD objects have been annotated to familial hypertrophic cardiomyopathy  (DOID:0080326)
  • 9 papers in RGD have been used to annotate PKP2
  • Curation Notes: ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
  • Original References(s): PMID:23861362 PMID:25741868 PMID:28492532


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