SLC2A2, solute carrier family 2 member 2, 6514

N. diseases: 123; N. variants: 32
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: C1735903
Disease: Chronic acidosis
Chronic acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 1 1 0.100 None 0 1
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: C4021643
Disease: Impairment of galactose metabolism
Impairment of galactose metabolism 		phenotype Finding 3 1 0.100 None 0 1
CUI: C1290645
Disease: Dentin bridge
Dentin bridge 		disease Stomatognathic Diseases Disease or Syndrome 5 0.010 None 1.000 1 2020 2020
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 7 0.010 None 1.000 1 2018 2018
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 11 17 0.010 None 1.000 1 2 2000 2000
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria 		phenotype Finding 11 0.100 None 0
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 2 0.300 None 1.000 1 2002 2002
CUI: C0221333
Disease: Hypouricemia
Hypouricemia 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 8 0.100 None 0
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 15 17 0.800 None 0.974 38 15 1997 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 12 0.010 None 1.000 1 2010 2010
CUI: C0021828
Disease: Intestinal Atresia
Intestinal Atresia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 20 2 0.010 None 1.000 1 2019 2019
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 20 108 0.010 None 1.000 1 2012 2012
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue 		phenotype Finding 21 1 0.100 None 0
CUI: C0342273
Disease: Transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus 		disease Disease or Syndrome 23 0.010 None 1.000 1 2012 2012
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 26 4 0.300 None 1.000 1 2002 2002
CUI: C0001122
Disease: Acidosis
Acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 28 0.100 None 0
CUI: C4703555
Disease: Decreased waist to hip ratio
Decreased waist to hip ratio 		phenotype Finding 28 0.100 None 0
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 0.030 None 1.000 3 2002 2004
CUI: C1704375
Disease: Hypophosphatemic Rickets
Hypophosphatemic Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 29 6 0.010 None 1.000 1 2012 2012
CUI: C3472608
Disease: Micropapillary carcinoma
Micropapillary carcinoma 		disease Neoplastic Process 29 0.010 None 1.000 1 2019 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: C0341703
Disease: Adult Fanconi syndrome
Adult Fanconi syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 32 0.300 None 1.000 1 2002 2002
CUI: C1257958
Disease: Glucose Metabolism Disorders
Glucose Metabolism Disorders 		group Nutritional and Metabolic Diseases Disease or Syndrome 32 0.010 None 1.000 1 2019 2019
CUI: C2748055
Disease: Hypoinsulinaemia (disorder)
Hypoinsulinaemia (disorder) 		disease Disease or Syndrome 36 0.010 None 1.000 1 1991 1991