SLC2A2, solute carrier family 2 member 2, 6514

N. diseases: 82; N. variants: 8
Source: BEFREE ×
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: C0334070
Disease: Maturation defect
Maturation defect 		phenotype Acquired Abnormality 43 2 0.010 None < 0.001 1 2006 2006
CUI: C0342273
Disease: Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus 		disease Disease or Syndrome 12 0.010 None 1.000 1 2012 2012
CUI: C0858600
Disease: Taste sweet
Taste sweet 		phenotype Sign or Symptom 41 3 0.010 None 1.000 1 2015 2015
CUI: C1378050
Disease: Oncocytic Neoplasm
Oncocytic Neoplasm 		disease Neoplastic Process 105 2 0.010 None 1.000 1 2007 2007
CUI: C2748055
Disease: Hypoinsulinaemia (disorder)
Hypoinsulinaemia (disorder) 		disease Disease or Syndrome 22 0.010 None 1.000 1 1991 1991
CUI: C3472608
Disease: Micropapillary carcinoma
Micropapillary carcinoma 		disease Neoplastic Process 29 0.010 None 1.000 1 2019 2019
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 740 41 0.010 None 1.000 1 2014 2014
CUI: C0011253
Disease: Delusions
Delusions 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 37 15 0.010 None 1.000 1 2012 2012
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1551 382 0.030 None 1.000 3 1 2012 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 1973 871 0.020 None 1.000 2 2013 2019
CUI: C1273070
Disease: Left ventricular diastolic dysfunction
Left ventricular diastolic dysfunction 		disease Cardiovascular Diseases Disease or Syndrome 31 1 0.010 None 1.000 1 2019 2019
CUI: C0021828
Disease: Intestinal Atresia
Intestinal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 11 1 0.010 None 1.000 1 2019 2019
CUI: C0268186
Disease: Congenital glucose-galactose malabsorption
Congenital glucose-galactose malabsorption 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 19 11 0.010 None 1.000 1 2010 2010
CUI: C3495427
Disease: Fanconi-Bickel Syndrome
Fanconi-Bickel Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 12 2 0.800 None 0.974 32 1997 2019
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 72 23 0.010 None 1.000 1 2015 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 291 122 0.010 None 1.000 1 2015 2015
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 43 9 0.040 None 1.000 4 1999 2019
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 4 0.010 None 1.000 1 2018 2018
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 38 22 0.330 strong 1.000 3 2002 2012
CUI: C0017980
Disease: Glycosuria, Renal
Glycosuria, Renal 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 5 0.010 None 1.000 1 2 2000 2000
CUI: C3245525
Disease: Familial renal glucosuria
Familial renal glucosuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 2 0.010 None 1.000 1 2010 2010
CUI: C3536983
Disease: Familial Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 42 14 0.010 None 1.000 1 2012 2012
CUI: C0016952
Disease: Galactosemias
Galactosemias 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 25 16 0.030 None 1.000 3 2002 2004
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 46 12 0.010 None 1.000 1 2013 2013
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 666 137 0.010 None 1.000 1 2018 2018