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.
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 0.800 definitive 0.983 59 7 1989 2019
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
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
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
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.700 strong 1.000 22 4 1998 2018
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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.650 strong 1.000 7 2010 2017
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
disease Finding 1 11 0.600 strong 1.000 7 11 2000 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.480 None 1.000 10 1998 2019
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.450 None 1.000 8 1 2000 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.440 strong 1.000 8 3 2000 2019
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.430 None 1.000 4 2001 2015
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 205 8 0.420 None 1.000 5 1 1998 2018
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 15 1 0.410 strong 1.000 3 2011 2012
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 19 0.400 definitive 1.000 34 19 1989 2017
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.400 None 0.853 34 3 1990 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.400 None 0.970 33 2004 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.400 None 0.969 32 2004 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.400 None 1.000 25 1993 2019
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.400 None 1.000 3 1998 2001
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result
phenotype Laboratory or Test Result 13 0.400 strong 1.000 2 2011 2012
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.400 strong 1.000 1 2016 2016
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.400 None 1.000 1 2016 2016
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.380 None 1.000 9 1996 2020
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.380 None 1.000 9 2003 2018