rs121909730, GLUD1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperinsulinemic hypoglycemia, familial, 6
CUI: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
0.810 GeneticVariation BEFREE In conclusion, we generated a GDH-HI disease mouse model that has a hypoglycemia phenotype and confirmed that the mutation of H454Y is disease causing. 16574664 2006
Hyperinsulinemic hypoglycemia, familial, 6
CUI: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
0.810 GeneticVariation UNIPROT Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. 11214910 2001
Hyperinsulinemic hypoglycemia, familial, 6
CUI: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
0.810 GeneticVariation UNIPROT Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. 11297618 2001
Hyperinsulinemic hypoglycemia, familial, 6
CUI: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
0.810 GeneticVariation UNIPROT Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome. 10636977 2000
Hyperinsulinemic hypoglycemia, familial, 6
CUI: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
0.810 GeneticVariation UNIPROT Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. 9571255 1998
Hyperinsulinemic hypoglycemia, familial, 6
CUI: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
0.810 CausalMutation CLINVAR
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
0.020 GeneticVariation BEFREE Mitochondrial GTP (mtGTP)-insensitive mutations in glutamate dehydrogenase (GDH(H454Y)) result in fasting and amino acid-induced hypoglycemia in hyperinsulinemia hyperammonemia (HI/HA). 25024374 2014
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
0.020 GeneticVariation BEFREE In conclusion, we generated a GDH-HI disease mouse model that has a hypoglycemia phenotype and confirmed that the mutation of H454Y is disease causing. 16574664 2006
Fasting Hypoglycemia
CUI: C0271708
Disease: Fasting Hypoglycemia
0.010 GeneticVariation BEFREE As in the humans with HI/HA, H454Y mice had fasting hypoglycemia, but plasma insulin concentrations were similar to the controls. 25024374 2014
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
0.010 GeneticVariation BEFREE Mitochondrial GTP (mtGTP)-insensitive mutations in glutamate dehydrogenase (GDH(H454Y)) result in fasting and amino acid-induced hypoglycemia in hyperinsulinemia hyperammonemia (HI/HA). 25024374 2014