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: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.557 0.552 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.700 0.947 0 0 2008 2017
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.561 0.483 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.610 1.000 0 0 2004 2009
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A 0.577 0.414 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.500 0.941 0 0 1998 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.500 0.900 0 0 2007 2016
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.403 0.759 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.500 1.000 0 0 1997 2016
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.506 0.517 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.500 0.942 0 0 2001 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.586 0.276 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.500 0.919 0 0 2003 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.557 0.483 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.500 0.977 0 0 1998 2018
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.463 0.690 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.500 1.000 0 0 1997 2015
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
contactin associated protein like 2 0.582 0.552 3.6E-09
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.460 1.000 0 0 2008 2015
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
ubiquitin protein ligase E3A 0.590 0.483 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.450 1.000 0 0 2003 2015
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.484 0.759 1.2E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.440 1.000 0 0 1999 2014
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
gamma-aminobutyric acid type A receptor beta3 subunit 0.572 0.517 0.96
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.440 1.000 0 0 1998 2016
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
myocyte enhancer factor 2C 0.570 0.483 1.6E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.430 1.000 0 0 2011 2017
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
solute carrier family 1 member 2 0.572 0.517 0.62
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.430 1.000 0 0 2000 2015
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.456 0.793 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.430 1.000 0 0 2002 2016
Entrez Id: 207
Gene Symbol: AKT1
AKT1
AKT serine/threonine kinase 1 0.355 0.862 0.98
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.420 1.000 0 0 2010 2017
Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1
potassium voltage-gated channel subfamily H member 1 0.607 0.655 0.62
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.420 1.000 0 0 2015 2017
Entrez Id: 8514
Gene Symbol: KCNAB2
KCNAB2
potassium voltage-gated channel subfamily A regulatory beta subunit 2 0.676 0.448 0.73
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.410 1.000 0 0 2001 2001
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3
solute carrier family 1 member 3 0.619 0.552 0.99
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.410 < 0.001 0 0 1995 2010
Entrez Id: 116442
Gene Symbol: RAB39B
RAB39B
RAB39B, member RAS oncogene family 0.676 0.276 0.83
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.410 1.000 0 0 2010 2015
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
L-2-hydroxyglutarate dehydrogenase 0.656 0.414 4.8E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 0 0 2006 2006
Entrez Id: 10617
Gene Symbol: STAMBP
STAMBP
STAM binding protein 0.667 0.448 5.3E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 0 0 2013 2013
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
folate receptor 1 0.557 0.724 9.8E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 0 0 2009 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.463 0.862 0.78
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.200 0.722 0 0 2005 2015