SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
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.
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 19 0.400 definitive 1.000 34 19 1989 2017
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 35 0.700 definitive 1.000 31 35 1989 2018
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
disease Finding 1 11 0.600 strong 1.000 7 11 2000 2015
CHOREOATHETOSIS/SPASTICITY, EPISODIC
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 7 0.710 None 1.000 4 7 2008 2016
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 8 0.700 None 1.000 4 8 2011 2014
CUI: C0598121
Disease: Hypoglycorrhachia
Hypoglycorrhachia
phenotype Finding 1 0.100 None 0
CUI: C1847507
Disease: Paroxysmal lethargy
Paroxysmal lethargy
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 1 0.100 None 0
CUI: C4023512
Disease: Myoclonic absences
Myoclonic absences
disease Disease or Syndrome 2 2 0.010 None 1.000 1 1 2011 2011
CUI: C0391870
Disease: Abnormality of red blood cells
Abnormality of red blood cells
group Hemic and Lymphatic Diseases Finding 2 0.100 None 0
CUI: C4025593
Disease: Increased intracellular sodium
Increased intracellular sodium
phenotype Finding 2 0.100 None 0
CUI: C1167782
Disease: Lung hyperinflation
Lung hyperinflation
disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0006112
Disease: Brain Diseases, Metabolic
Brain Diseases, Metabolic
group Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.030 None 1.000 3 2012 2018
CUI: C1281440
Disease: Familial obesity
Familial obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 1998 1998
Intermediate Grade Ductal Breast Carcinoma In Situ
disease Neoplasms Neoplastic Process 4 1 0.010 None 1.000 1 2010 2010
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
disease Disease or Syndrome 4 13 0.010 None 1.000 1 2016 2016
Epilepsy with myoclonic-atonic seizures
disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0235753
Disease: Congenital hemangioma
Congenital hemangioma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases Neoplastic Process 5 0.010 None < 0.001 1 2017 2017
CUI: C1851936
Disease: Paroxysmal choreoathetosis
Paroxysmal choreoathetosis
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 strong 1.000 1 2016 2016
Intracerebral periventricular calcifications
phenotype Finding 5 1 0.100 None 0
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder)
disease Nervous System Diseases Disease or Syndrome 6 19 0.750 None 1.000 21 19 2000 2019
CUI: C4085238
Disease: MYOCLONIC-ATONIC EPILEPSY
MYOCLONIC-ATONIC EPILEPSY
disease Disease or Syndrome 6 16 0.030 None 1.000 3 2011 2019
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1
disease Disease or Syndrome 6 5 0.300 None 1.000 2 2009 2012
CUI: C2937224
Disease: Constitutional obesity
Constitutional obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 1998 1998
EEG with spike-wave complexes (2.5-3.5 Hz)
phenotype Finding 6 0.100 None 0
CUI: C0349578
Disease: Complex Endometrial Hyperplasia
Complex Endometrial Hyperplasia
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 7 0.010 None 1.000 1 2000 2000