GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Disease: UDPglucose 4-epimerase deficiency disease ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 16 0.320 None 1.000 3 1995 2017