UGDH, UDP-glucose 6-dehydrogenase, 7358

N. diseases: 35; N. variants: 2
Disease: Hyperinsulinism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.020 GeneticVariation disease 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
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.020 GeneticVariation disease BEFREE Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism-hyperammonaemia (HI/HA) syndrome. 19690084 2009