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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 Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • The annotation was made from Kim HJ, etal., Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3.
  • 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)
  • 14 papers in RGD have been used to annotate HNRNPA2B1
  • Curation Notes: DNA:missense mutation:cds:p.D290V (human)

  • This annotation was curated on 2018-04-21 09:00:30.0 by RGD . For more information contact us

    An association has been curated linking HNRNPA2B1 and inclusion body myopathy with Paget disease of bone and frontotemporal dementia in Homo sapiens.        

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

  • This annotation was curated on 2020-02-20 14:37:05.0 by RGD . For more information contact us

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