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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

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

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Glaser B, etal., N Engl J Med. 1998 Jan 22;338(4):226-30.
  • 5 additional annotations were made from Glaser B, etal., N Engl J Med. 1998 Jan 22;338(4):226-30.
  • 366 RGD objects have been annotated to hyperinsulinism  (DOID:2018)
  • 37 papers in RGD have been used to annotate GCK
  • Curation Notes: hyperinsulinemic hypoglycemia,OMIM:602485;DNA:point mutation:exon:V455M


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

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11603465 (Homo sapiens)
  • 366 RGD objects have been annotated to hyperinsulinism  (DOID:2018)
  • 37 papers in RGD have been used to annotate GCK
  • Curation Notes: ClinVar Annotator: match by term: Hyperinsulinism, Dominant


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

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11598964 (Homo sapiens)
  • 366 RGD objects have been annotated to hyperinsulinism  (DOID:2018)
  • 37 papers in RGD have been used to annotate GCK
  • Curation Notes: ClinVar Annotator: match by term: Hyperinsulinism, Dominant
  • Original References(s): PMID:27269892 PMID:29510678 PMID:30257192 PMID:31197960 PMID:32375122 PMID:33129248


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