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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Fkrp and dilated cardiomyopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Müller T, etal., Neuromuscul Disord. 2005 May;15(5):372-6.
  • The annotation has been inferred from sequence orthology with FKRP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Müller T, etal., Neuromuscul Disord. 2005 May;15(5):372-6.
  • 463 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 23 papers in RGD have been used to annotate Fkrp
  • Curation Notes: DNA:missense mutation:exon:p.L276I (826C>A) (human)


    • An association has been curated linking Fkrp and dilated cardiomyopathy in Rattus norvegicus.        

  • 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 FKRP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 463 RGD objects have been annotated to dilated cardiomyopathy  (DOID:12930)
  • 23 papers in RGD have been used to annotate Fkrp
  • Curation Notes: ClinVar Annotator: match by term: Primary dilated cardiomyopathy
  • Original References(s): PMID:11741828 PMID:16344347 PMID:17994539 PMID:18832576 PMID:22451200 PMID:25741868 PMID:27884173 PMID:28492532 PMID:28688748


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