GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Disease: UDPglucose 4-epimerase deficiency disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		0.320 Biomarker disease BEFREE Five patients with GALK and five with GALE deficiency were picked up via the Neonatal Screening Program. 28672748 2017
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		0.320 Biomarker disease BEFREE Although classical galactosemia results from impairment of the second enzyme of the Leloir pathway, namely galactose-1-phosphate uridylyltransferase, alternate forms of the disorder can occur due to either galactokinase or UDP-galactose 4-epimerase deficiencies. 11279193 2001
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		0.320 Biomarker disease CTD_human Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. 7670469 1995