GALK1, galactokinase 1, 2584

N. diseases: 34; N. variants: 28
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: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.010 None 1.000 1 1998 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 1 1991 1991
CUI: C0027960
Disease: Nevus
Nevus 		disease Neoplasms Neoplastic Process 125 43 0.010 None 1.000 1 2012 2012
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		disease Neoplasms Neoplastic Process 297 33 0.010 None 1.000 1 2012 2012
CUI: C0152259
Disease: Cataract secondary to ocular disorder
Cataract secondary to ocular disorder 		disease Eye Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 1980 1980
CUI: C0268157
Disease: Galactosuria
Galactosuria 		phenotype Disease or Syndrome 4 0.110 None 1.000 1 2002 2002
CUI: C4021643
Disease: Impairment of galactose metabolism
Impairment of galactose metabolism 		phenotype Finding 3 1 0.100 None 0
CUI: C4023071
Disease: Hypergalactosemia
Hypergalactosemia 		phenotype Finding 4 0.100 None 0
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 59 14 0.100 None 0