GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Disease: Cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract 		0.500 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: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE Galactokinase (GALK) deficiency causes cataract leading to severe developmental consequences unless treated early. 29580649 2018
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE In man, defects in galactose metabolism can result in disorders with severe clinical consequences, and deficiencies in galactokinase have been linked with the development of cataracts within the first few months of life. 15003454 2004
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE Galactokinase (GALK1) deficiency is an autosomal recessive disorder, which causes cataract formation in children not maintained on a lactose-free diet. 15024738 2004
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE In galactokinase (GALK) deficiency, galactose cannot be phosphorylated into galactose-1-phosphate, which leads to cataract formation. 11978883 2002
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE A total of 25 publications were traced describing 55 galactokinase-deficient patients.Cataract was reported in most patients. 12705493 2002
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE Galactokinase (GALK) deficiency is an autosomal recessive disorder characterized by hypergalactosemia and cataract formation. 11231902 2001
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease BEFREE Galactokinase (GALK) deficiency is an autosomal recessive disorder, which causes cataract formation in children not maintained on a lactose-free diet. 10570908 1999
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease CTD_human The availability of the cloned galactokinase gene provides an important reference to identify mutations in patients with galactokinase deficiency and cataracts. 7670469 1995
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE The availability of the cloned galactokinase gene provides an important reference to identify mutations in patients with galactokinase deficiency and cataracts. 7670469 1995
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE Galactitol and sorbitol concentrations in plasma were determined in patients (with or without cataract) in whom homo- or heterozygosity for galactokinase, galactose-1-phosphate uridyltransferase, systemic or peripheral UDP-galactose epimerase and sorbitol dehydrogenase deficiency was confirmed. 2122118 1990
CUI: C0086543
Disease: Cataract
Cataract 		0.500 AlteredExpression disease BEFREE Three of the idiopathic cataract patients (6.9%) had galactokinase levels less than two standard deviations below the mean galactokinase level for age-matched patients with suspected (nondiabetic) etiology. 3951827 1986
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease HPO