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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Actc1 and familial hypertrophic cardiomyopathy in Heterocephalus glaber.        

  • 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 ACTC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 128 RGD objects have been annotated to familial hypertrophic cardiomyopathy  (DOID:0080326)
  • 0 papers in RGD have been used to annotate Actc1
  • Curation Notes: ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
  • Original References(s): PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19799913 PMID:20497191 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:24033266 PMID:24736382 PMID:25524337 PMID:25741868 PMID:27532257 PMID:28492532 PMID:29907873 PMID:30371277 PMID:35626289


    • An association has been curated linking Actc1 and familial hypertrophic cardiomyopathy in Heterocephalus glaber.        

  • 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 ACTC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 128 RGD objects have been annotated to familial hypertrophic cardiomyopathy  (DOID:0080326)
  • 0 papers in RGD have been used to annotate Actc1
  • Curation Notes: ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy
  • Original References(s): PMID:10966831 PMID:12860912 PMID:14729850 PMID:15058760 PMID:16267253 PMID:16611632 PMID:17611253 PMID:17623677 PMID:17916152 PMID:17947298 PMID:18379140 PMID:18400036 PMID:18506004 PMID:18519860 PMID:18801786 PMID:19184181 PMID:19467449 PMID:19799913 PMID:20497191 PMID:20965760 PMID:21297463 PMID:21524215 PMID:21551322 PMID:21622575 PMID:24033266 PMID:24736382 PMID:25524337 PMID:25741868 PMID:27532257 PMID:28492532 PMID:29907873 PMID:30371277 PMID:32720330 PMID:35626289


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