rs121909730, GLUD1

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