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: C0268157
Disease: Galactosuria
Galactosuria
0.110 Biomarker phenotype 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: C0268157
Disease: Galactosuria
Galactosuria
0.110 Biomarker phenotype HPO