GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
Disease: Deficiency of galactokinase ×
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: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 22 0.800 None 1.000 18 22 1986 2018