rs121909737, GLUD1

N. diseases: 1
Disease: Hyperinsulinemic hypoglycemia, familial, 6 ×
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
0.800 CausalMutation CLINVAR Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients. 30306091 2018
Hyperinsulinemic hypoglycemia, familial, 6
CUI: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
0.800 CausalMutation CLINVAR Clinical and genetic characterization of congenital hyperinsulinism in Spain. 27188453 2016
Hyperinsulinemic hypoglycemia, familial, 6
CUI: C1847555
Disease: Hyperinsulinemic hypoglycemia, familial, 6
0.800 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
0.800 CausalMutation CLINVAR 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
0.800 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
0.800 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
0.800 GeneticVariation UNIPROT Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. 9571255 1998