Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hyperinsulinemic Hypoglycemia, Familial, 5
0.700 GeneticVariation disease UNIPROT A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. 15161766 2004
Hyperinsulinemic Hypoglycemia, Familial, 5
0.700 GermlineCausalMutation disease ORPHANET A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. 15161766 2004
Hyperinsulinemic Hypoglycemia, Familial, 5
0.700 Biomarker disease GENOMICS_ENGLAND Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. 8288049 1994
Hyperinsulinemic Hypoglycemia, Familial, 5
0.700 Biomarker disease GENOMICS_ENGLAND
Hyperinsulinemic Hypoglycemia, Familial, 5
0.700 CausalMutation disease CLINVAR
Hyperinsulinemic Hypoglycemia, Familial, 5
0.700 Biomarker disease CTD_human