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: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 39 1 0.010 None 1.000 1 2011 2011
CUI: C0858600
Disease: Taste sweet
Taste sweet 		phenotype Sign or Symptom 41 3 0.010 None 1.000 1 2015 2015
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 42 33 0.330 strong 1.000 4 2002 2012
CUI: C0334070
Disease: Maturation defect
Maturation defect 		phenotype Acquired Abnormality 43 2 0.010 None < 0.001 1 2006 2006
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 43 15 0.010 None 1.000 1 2012 2012
CUI: C3887650
Disease: Adult Rickets
Adult Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 47 0.100 None 0
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 49 15 0.010 None 1.000 1 2013 2013
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 51 0.100 None 0
CUI: C0017979
Disease: Glycosuria
Glycosuria 		phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 53 7 0.100 None 0
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		phenotype Laboratory Procedure 54 108 0.100 None 1.000 1 1 2011 2011
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases Finding 55 0.100 None 0
CUI: C0020621
Disease: Hypokalemia
Hypokalemia 		phenotype Nutritional and Metabolic Diseases Finding 61 7 0.100 None 0
CUI: C0011253
Disease: Delusions
Delusions 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 62 15 0.010 None 1.000 1 2012 2012
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		phenotype Digestive System Diseases; Nervous System Diseases; Mental Disorders Sign or Symptom 62 7 0.100 None 0
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 63 16 0.040 None 1.000 4 1999 2019
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 64 5 0.110 None 1.000 1 1 2014 2014
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		phenotype Laboratory or Test Result 65 113 0.100 None 1.000 1 3 2012 2012
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype Finding 67 6 0.100 None 0
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.110 None 1.000 1 2012 2012
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 81 4 0.010 None 1.000 1 2012 2012
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 89 27 0.010 None 1.000 1 2015 2015
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2018 2018
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		phenotype Finding 89 111 0.100 None 1.000 1 1 2018 2018
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		phenotype Laboratory Procedure 96 212 0.100 None 1.000 5 5 2010 2017
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0 1