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: 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
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: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.010 None < 0.001 1 2016 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None < 0.001 1 2016 2016
CUI: C0036646
Disease: Age-related cataract
Age-related cataract
disease Eye Diseases Acquired Abnormality 92 15 0.020 None 0.500 2 2001 2003
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.500 None 0.909 11 1986 2018
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 32 233 0.400 None 0.923 13 1988 2019
CUI: C0016952
Disease: Galactosemias
Galactosemias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 29 16 0.400 None 0.933 15 1988 2019
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
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.050 None 1.000 5 1 1986 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 105 104 0.040 None 1.000 4 1995 2014
CUI: C0154971
Disease: Presenile cataract
Presenile cataract
disease Eye Diseases Disease or Syndrome 8 2 0.040 None 1.000 4 1978 1995
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
Adult junctional epidermolysis bullosa (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 6 35 0.100 None 1.000 2 1 1999 2002
Epidermolysis bullosa with pyloric atresia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 17 0.100 None 1.000 2 4 1999 2002
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 42 0.100 None 1.000 2 1 1999 2002
CUI: C1510497
Disease: Lens Opacities
Lens Opacities
phenotype Eye Diseases Finding 24 0.300 None 1.000 1 1995 1995
CUI: C3277059
Disease: Congenital Bilateral Cataracts
Congenital Bilateral Cataracts
disease Disease or Syndrome 8 1 0.010 None 1.000 1 1986 1986
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus
disease Neoplasms Neoplastic Process 122 20 0.010 None 1.000 1 2012 2012
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 1989 1989
CUI: C1306068
Disease: After-cataract
After-cataract
disease Eye Diseases Disease or Syndrome 22 2 0.010 None 1.000 1 1980 1980
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 1 1991 1991
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia
disease Eye Diseases Disease or Syndrome 28 0.300 None 1.000 1 1995 1995
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1037 21 0.010 None 1.000 1 2018 2018