Disease: Inborn Errors of Metabolism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		0.030 AlteredExpression group BEFREE Classical galactosaemia is an inborn error of metabolism due to the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). 28644047 2017
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		0.030 GeneticVariation group BEFREE Classical galactosemia is an autosomal recessive inborn error of metabolism due to mutations of the GALT gene leading to toxic accumulation of galactose and derived metabolites. 25592817 2015
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		0.030 GeneticVariation group BEFREE Cloning and characterization of all three human galactose-metabolic genes (GALK, GALT and GALE) has led to the identification of a number of mutations which are generally of the missense type in patients with galactosemia, an inborn error of metabolism. 9540406 1998