GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 Biomarker disease BEFREE The compounds described herein should provide a starting point for further development of drug candidates for the GALK1 modulation in the Classic Galactosemia. 30806949 2019
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 AlteredExpression disease BEFREE GALK inhibitors, UGP up-regulation, uridine supplementation, ER stress reducers, antioxidants and pharmacological chaperones have been studied, showing rescue of biochemical and/or clinical symptoms in galactosemia. 31808946 2019
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 Biomarker disease BEFREE Galactosemia Proteins Database 2.0 is a Web-accessible resource collecting information about the structural and functional effects of the known variations associated to the three different enzymes of the Leloir pathway encoded by the genes GALT, GALE, and GALK1 and involved in the different forms of the genetic disease globally called "galactosemia." 28961353 2018
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 GeneticVariation disease BEFREE Galactosemia type 2 is an autosomal recessive disorder characterized by the deficiency of galactokinase (GALK) enzyme due to missense mutations in GALK1 gene, which is associated with various manifestations such as hyper galactosemia and formation of cataracts. 29893426 2018
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 Biomarker disease BEFREE Galactokinase, the enzyme which catalyses the first committed step in the Leloir pathway, has attracted interest due to its potential as a biocatalyst and as a possible drug target in the treatment of type I galactosemia. 27789348 2017
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 GeneticVariation disease BEFREE Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases. 28672748 2017
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 GeneticVariation disease BEFREE The study highlighted the importance of GALK gene analysis in diagnosis of galactosemia in Indian population. 22632133 2012
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 GeneticVariation disease BEFREE Finally, the structure has enabled us to further our understanding on the functional consequences of mutations in human GalK which cause galactosemia. 15003454 2004
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 Biomarker disease BEFREE Lack of fully functional galactokinase is one cause of the inherited disease galactosemia, the main clinical manifestation of which is early onset cataracts. 12694189 2003
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 Biomarker disease BEFREE Diagnoses were based on thin layer chromatography for galactosuria/galactosemia and assays of erythrocyte galactose-1-phosphate uridyltransferase (GALT) and galactokinase activities. 12350230 2002
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 GeneticVariation disease 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
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 Biomarker disease CTD_human Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. 7670469 1995
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
0.400 Biomarker disease BEFREE Galactosemia is a disorder caused by a deficiency of any one of three possible enzymes involved in the metabolism of galactose: galactokinase, transferase or epimerase. 3043741 1988