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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking INSR and hyperinsulinism in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Michael MD, etal., Mol Cell 2000 Jul;6(1):87-97.
  • The annotation has been inferred from sequence orthology with Insr (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 8 additional annotations were made from Michael MD, etal., Mol Cell 2000 Jul;6(1):87-97.
  • 365 RGD objects have been annotated to hyperinsulinism  (DOID:2018)
  • 67 papers in RGD have been used to annotate INSR


    • An association has been curated linking INSR and hyperinsulinism 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
  • 365 RGD objects have been annotated to hyperinsulinism  (DOID:2018)
  • 67 papers in RGD have been used to annotate INSR
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:10949030 PMID:18411068


    • An association has been curated linking INSR and hyperinsulinism in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Murakami K, etal., Biochem Biophys Res Commun. 2011 May 27;409(1):34-9. doi: 10.1016/j.bbrc.2011.04.101. Epub 2011 Apr 28.
  • The annotation has been inferred from sequence orthology with Insr (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Murakami K, etal., Biochem Biophys Res Commun. 2011 May 27;409(1):34-9. doi: 10.1016/j.bbrc.2011.04.101. Epub 2011 Apr 28.
  • 365 RGD objects have been annotated to hyperinsulinism  (DOID:2018)
  • 67 papers in RGD have been used to annotate INSR
  • Curation Notes: DNA:missense mutation: :p.P1195L (mouse)


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