Source: HPO

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: C0036572
Disease: Seizures
Seizures 		phenotype 0.700 strong 1.000 0 0 1998 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.650 strong 1.000 0 0 2010 2017
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.480 None 1.000 0 0 1998 2019
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 0 2000 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.440 strong 1.000 0 0 2000 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.430 None 1.000 0 0 2001 2015
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 0 1998 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		disease 0.410 strong 1.000 0 0 2011 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		disease 0.400 None 1.000 0 0 2016 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease 0.400 None 1.000 0 0 1998 2001
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0086543
Disease: Cataract
Cataract 		disease 0.400 strong 1.000 0 0 2016 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		phenotype 0.400 strong 1.000 0 0 2011 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease 0.200 None 1.000 0 0 2006 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease 0.200 None 1.000 0 0 2008 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.200 None 1.000 0 0 1991 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group 0.150 None 1.000 0 0 2012 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.150 None 1.000 0 0 2014 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0752210
Disease: Dyskinesias, Paroxysmal
Dyskinesias, Paroxysmal 		disease 0.140 None 1.000 0 0 2013 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.130 None 1.000 0 0 2011 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.120 None 1.000 0 0 2016 2019
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 0 2013 2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease 0.110 None 1.000 0 0 2008 2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.110 None 1.000 0 0 2011 2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype 0.110 None 1.000 0 0 2019 2019