GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Disease: Deficiency of galactokinase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		0.800 GeneticVariation disease CLINVAR Molecular characterization of galactokinase deficiency in Japanese patients. 10570908 1999
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		0.800 GeneticVariation disease UNIPROT A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). 10521295 1999
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		0.800 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: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		0.800 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: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		0.800 AlteredExpression disease BEFREE The diagnosis of heterozygous galactokinase deficiency was based on the following criteria: galactokinase activity more than 2.0 SD below the control population mean; when available, familial evidence for heterozygous galactokinase activity was used as additional evidence. 3949470 1986
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		0.800 Biomarker disease GENOMICS_ENGLAND