Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.450 None 1.000 0 1 2000 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		phenotype 0.420 None 1.000 0 1 1998 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.200 None 0.962 0 1 2003 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype 0.130 None 1.000 0 1 2010 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype 0.120 None 1.000 0 1 2013 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease 0.110 None 1.000 0 1 2011 2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		disease 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 2
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		phenotype 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0029882
Disease: Otitis Media
Otitis Media 		disease 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0241210
Disease: Speech Delay
Speech Delay 		disease 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		group 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		disease 0.800 definitive 0.983 1 4 1989 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
CHOREOATHETOSIS/SPASTICITY, EPISODIC 		disease 0.710 None 1.000 1 7 2008 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C1837206
Disease: Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 		disease 0.700 None 1.000 1 8 2011 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C3553859
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 		disease 0.600 strong 1.000 1 8 2000 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		disease 0.100 None 1.000 1 1 2018 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		disease 0.750 None 1.000 2 15 2000 2019