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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ITPR1 and Niemann-Pick disease type A in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ginzburg L and Futerman AH, J Neurochem. 2005 Dec;95(6):1619-28. Epub 2005 Nov 8.
  • The annotation has been inferred from sequence orthology with Itpr1 (Mus musculus) [(IEP) inferred from expression pattern]
  • 2 additional annotations were made from Ginzburg L and Futerman AH, J Neurochem. 2005 Dec;95(6):1619-28. Epub 2005 Nov 8.
  • 5 RGD objects have been annotated to Niemann-Pick disease type A  (DOID:0070111)
  • 27 papers in RGD have been used to annotate ITPR1
  • Qualifier: disease_progression
  • Curation Notes: protein:decreased expression:cerebellum (mouse)


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