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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

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

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from McKoy G, etal., Lancet. 2000 Jun 17;355(9221):2119-24.
  • The annotation has been inferred from sequence orthology with JUP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from McKoy G, etal., Lancet. 2000 Jun 17;355(9221):2119-24.
  • 1323 RGD objects have been annotated to cardiomyopathy  (DOID:0050700)
  • 29 papers in RGD have been used to annotate Jup
  • Curation Notes: Naxos disease, OMIM:601214


    • An association has been curated linking Jup and 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 JUP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1323 RGD objects have been annotated to cardiomyopathy  (DOID:0050700)
  • 29 papers in RGD have been used to annotate Jup
  • Curation Notes: ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy
  • Original References(s): PMID:16467215 PMID:19863551 PMID:20525856 PMID:20864495 PMID:23299917 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25351510 PMID:25363768 PMID:25445213 PMID:25741868 PMID:25765472 PMID:26073755 PMID:27005929 PMID:27532257 PMID:28492532 PMID:29802319 PMID:29892012 PMID:30847666 PMID:31983221 PMID:32268277 PMID:34011629


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