SLC2A2, solute carrier family 2 member 2, 6514

N. diseases: 82; N. variants: 8
Disease: Galactosemias ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016952
Disease: Galactosemias
Galactosemias 		0.030 GeneticVariation disease BEFREE A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. 15243984 2004
CUI: C0016952
Disease: Galactosemias
Galactosemias 		0.030 GeneticVariation disease BEFREE Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia. 12029458 2002
CUI: C0016952
Disease: Galactosemias
Galactosemias 		0.030 GeneticVariation disease BEFREE Mutations of SLC2A2 were detected in historical FBS patients in whom some of the characteristic clinical features (hepatorenal glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy) and the effect of therapy were described for the first time. 11810292 2002