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: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 192 65 0.100 None 0
CUI: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 1 0.100 None 0
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		disease Eye Diseases Disease or Syndrome 63 5 0.100 None 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		phenotype Finding 62 0.100 None 0
CUI: C0018681
Disease: Headache
Headache 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 338 75 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: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 67 14 0.100 None 0 1
CUI: C0598121
Disease: Hypoglycorrhachia
Hypoglycorrhachia 		phenotype Finding 1 0.100 None 0
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 32 2 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 1
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom 127 21 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0
CUI: C0679136
Disease: Low self-esteem
Low self-esteem 		phenotype Behavior and Behavior Mechanisms Finding 10 0.100 None 0
CUI: C0522224
Disease: Paralysed
Paralysed 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 68 0.100 None 0
CUI: C0029882
Disease: Otitis Media
Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 175 8 0.100 None 0 1
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia 		phenotype Nutritional and Metabolic Diseases Finding 32 1 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 122 17 0.100 None 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype Finding 121 11 0.100 None 0
CUI: C1855568
Disease: Jerky head movements
Jerky head movements 		phenotype Finding 10 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C0030232
Disease: Pallor
Pallor 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype Finding 22 10 0.100 None 0
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype Finding 67 4 0.100 None 0