Source: ALL

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: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		disease 0.800 definitive 0.983 59 7 1989 2019
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 21 19 2000 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 4 7 2008 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		disease 0.700 definitive 1.000 31 35 1989 2018
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 22 4 1998 2018
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 4 8 2011 2014
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 7 0 2010 2017
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 7 11 2000 2015
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 10 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 8 1 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 8 3 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 4 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 5 1 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 3 0 2011 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		disease 0.400 definitive 1.000 34 19 1989 2017
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.400 None 0.853 34 3 1990 2020
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease 0.400 None 0.970 33 0 2004 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease 0.400 None 0.969 32 0 2004 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 0.400 None 1.000 25 0 1993 2019
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 3 0 1998 2001
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 2 0 2011 2012
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 1 0 2016 2016
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 1 0 2016 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease 0.380 None 1.000 9 0 1996 2020
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group 0.380 None 1.000 9 0 2003 2018