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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pkp2 and dilated cardiomyopathy in Ictidomys tridecemlineatus.        

  • 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 PKP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 424 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 0 papers in RGD have been used to annotate Pkp2
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:20400443 PMID:21378009 PMID:2163603 PMID:21636032 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25650408 PMID:25676813 PMID:25741868 PMID:26220970 PMID:26743238 PMID:27066507 PMID:27930701 PMID:28074886 PMID:28166282 PMID:28492532 PMID:28750076 PMID:31333075 PMID:31568572 PMID:32906206 PMID:33919104


  • An association has been curated linking Pkp2 and dilated cardiomyopathy in Ictidomys tridecemlineatus.        

  • 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 PKP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 424 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 0 papers in RGD have been used to annotate Pkp2
  • 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
  • Original References(s): PMID:20400443 PMID:21378009 PMID:2163603 PMID:21636032 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25650408 PMID:25676813 PMID:25741868 PMID:26220970 PMID:26743238 PMID:27066507 PMID:27930701 PMID:28074886 PMID:28166282 PMID:28492532 PMID:28750076 PMID:31333075 PMID:31568572 PMID:32906206 PMID:33552729 PMID:33919104 PMID:35932045


  • An association has been curated linking Pkp2 and dilated cardiomyopathy in Ictidomys tridecemlineatus.        

  • 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 PKP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 424 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 0 papers in RGD have been used to annotate Pkp2
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:20400443 PMID:21378009 PMID:2163603 PMID:21636032 PMID:23396983 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25650408 PMID:25676813 PMID:25741868 PMID:26220970 PMID:26743238 PMID:27066507 PMID:27930701 PMID:28074886 PMID:28166282 PMID:28492532 PMID:28750076 PMID:31333075 PMID:31568572 PMID:32906206 PMID:33552729 PMID:33919104 PMID:35932045 PMID:36178741


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