Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0268155
Disease: Deficiency of galactokinase
Deficiency of galactokinase 		disease 0.800 None 1.000 18 22 1986 2018
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.500 None 0.909 11 0 1986 2018
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0016952
Disease: Galactosemias
Galactosemias 		disease 0.400 None 0.933 15 0 1988 2019
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		disease 0.400 None 0.923 13 0 1988 2019
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0751161
Disease: UDPglucose 4-epimerase deficiency disease
UDPglucose 4-epimerase deficiency disease 		disease 0.320 None 1.000 3 0 1995 2017
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		disease 0.300 None 1.000 1 0 1995 1995
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C1510497
Disease: Lens Opacities
Lens Opacities 		phenotype 0.300 None 1.000 1 0 1995 1995
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0268157
Disease: Galactosuria
Galactosuria 		phenotype 0.110 None 1.000 1 0 2002 2002
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		disease 0.100 None 1.000 2 1 1999 2002
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C1856934
Disease: Epidermolysis bullosa with pyloric atresia
Epidermolysis bullosa with pyloric atresia 		disease 0.100 None 1.000 2 4 1999 2002
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		disease 0.100 None 1.000 2 1 1999 2002
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C4023071
Disease: Hypergalactosemia
Hypergalactosemia 		phenotype 0.100 None 0 0
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C4021643
Disease: Impairment of galactose metabolism
Impairment of galactose metabolism 		phenotype 0.100 None 0 0
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		phenotype 0.100 None 0 0
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease 0.050 None 1.000 5 1 1986 2018
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0154971
Disease: Presenile cataract
Presenile cataract 		disease 0.040 None 1.000 4 0 1978 1995
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		disease 0.040 None 1.000 4 0 1995 2014
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0036646
Disease: Age-related cataract
Age-related cataract 		disease 0.020 None 0.500 2 0 2001 2003
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C1306068
Disease: After-cataract
After-cataract 		disease 0.010 None 1.000 1 0 1980 1980
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 0.010 None < 0.001 1 0 2016 2016
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C3277059
Disease: Congenital Bilateral Cataracts
Congenital Bilateral Cataracts 		disease 0.010 None 1.000 1 0 1986 1986
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease 0.010 None 1.000 1 0 1989 1989
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0342745
Disease: Disorder of galactose metabolism
Disorder of galactose metabolism 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2584
Gene Symbol: GALK1
GALK1 		galactokinase 1 0.682 0.346 1.0E-05
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype 0.010 None 1.000 1 0 2018 2018