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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Glud1 and hyperinsulinism in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Miki Y, etal., J Pediatr. 2000 Jan;136(1):69-72.
  • The annotation has been inferred from sequence orthology with GLUD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Miki Y, etal., J Pediatr. 2000 Jan;136(1):69-72.
  • 352 RGD objects have been annotated to hyperinsulinism  (DOID:2018)
  • 24 papers in RGD have been used to annotate Glud1
  • Curation Notes: familial hyperinsulinemic hypoglycemia-6,OMIM:606762;DNA:point mutation:exon:E296A


    • An association has been curated linking Glud1 and hyperinsulinism in Mus musculus.        

  • The association was inferred from genetic interaction (IGI)
    		•  
  • The annotation was made from Li C, etal., J Biol Chem. 2010 Oct 8;285(41):31806-18. Epub 2010 Jul 29.
  • The annotation has been inferred from genetic interaction with Hadha (Mus musculus)
  • 2 additional annotations were made from Li C, etal., J Biol Chem. 2010 Oct 8;285(41):31806-18. Epub 2010 Jul 29.
  • 352 RGD objects have been annotated to hyperinsulinism  (DOID:2018)
  • 24 papers in RGD have been used to annotate Glud1


    • An association has been curated linking Glud1 and hyperinsulinism in Mus musculus.        

  • 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 GLUD1 (Homo sapiens) [(EXP) inferred from experiment]
  • 352 RGD objects have been annotated to hyperinsulinism  (DOID:2018)
  • 24 papers in RGD have been used to annotate Glud1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:9571255


    • An association has been curated linking Glud1 and hyperinsulinism 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 GLUD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 352 RGD objects have been annotated to hyperinsulinism  (DOID:2018)
  • 24 papers in RGD have been used to annotate Glud1
  • Curation Notes: ClinVar Annotator: match by term: Hyperinsulinism, Dominant
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


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