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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Hnrnpa2b1 and inclusion body myopathy with Paget disease of bone and frontotemporal dementia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Kim HJ, etal., Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3.
  • The annotation has been inferred from sequence orthology with HNRNPA2B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kim HJ, etal., Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3.
  • 5 RGD objects have been annotated to inclusion body myopathy with Paget disease of bone and frontotemporal dementia  (DOID:0050881)
  • 28 papers in RGD have been used to annotate Hnrnpa2b1
  • Curation Notes: DNA:missense mutation:cds:p.D290V (human)


  • An association has been curated linking Hnrnpa2b1 and inclusion body myopathy with Paget disease of bone and frontotemporal dementia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with HNRNPA2B1 (Homo sapiens) [(EXP) inferred from experiment]
  • 5 RGD objects have been annotated to inclusion body myopathy with Paget disease of bone and frontotemporal dementia  (DOID:0050881)
  • 28 papers in RGD have been used to annotate Hnrnpa2b1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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