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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Fktn and dilated cardiomyopathy 1B in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Murakami T, etal., Ann Neurol. 2006 Nov;60(5):597-602.
  • The annotation has been inferred from sequence orthology with FKTN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Murakami T, etal., Ann Neurol. 2006 Nov;60(5):597-602.
  • 32 RGD objects have been annotated to dilated cardiomyopathy 1B  (DOID:0110443)
  • 19 papers in RGD have been used to annotate Fktn
  • Curation Notes: DNA:insertion, missense mutations:exon:p.R179T (c.536G>C), p.Q358P (c.1073A>C) (human)


  • An association has been curated linking Fktn and dilated cardiomyopathy 1B 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 FKTN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 32 RGD objects have been annotated to dilated cardiomyopathy 1B  (DOID:0110443)
  • 19 papers in RGD have been used to annotate Fktn
  • Curation Notes: ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32969603 PMID:33048919 PMID:34120883 PMID:35175440


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