rs121909730, GLUD1

N. diseases: 4
Disease: Hyperinsulinism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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