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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cacna1c and hypertrophic cardiomyopathy in Mus musculus.        

  • 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 CACNA1C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 290 RGD objects have been annotated to hypertrophic cardiomyopathy  (DOID:11984)
  • 18 papers in RGD have been used to annotate Cacna1c
  • Curation Notes: ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
  • Original References(s): PMID:20817017 PMID:22840528 PMID:23861362 PMID:24439875 PMID:25260352 PMID:25637381 PMID:25741868 PMID:26230511 PMID:26498160 PMID:28492532


    • An association has been curated linking Cacna1c and hypertrophic cardiomyopathy in Mus musculus.        

  • 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 CACNA1C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 290 RGD objects have been annotated to hypertrophic cardiomyopathy  (DOID:11984)
  • 18 papers in RGD have been used to annotate Cacna1c
  • Curation Notes: ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy
  • Original References(s): PMID:20817017 PMID:22840528 PMID:23861362 PMID:24439875 PMID:25260352 PMID:25637381 PMID:25741868 PMID:26230511 PMID:26498160 PMID:28492532 PMID:32145446 PMID:33797204


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