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 0.510 0.731 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.900 None 0.971 35 8 2007 2020
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.650 None 0.875 8 1 2004 2018
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.600 None 0.908 76 7 1995 2019
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
protocadherin 19 0.599 0.462 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.600 definitive 0.981 54 1 2008 2019
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
solute carrier family 12 member 5 0.570 0.654 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.600 None 1.000 23 0 2002 2019
Entrez Id: 6529
Gene Symbol: SLC6A1
SLC6A1
solute carrier family 6 member 1 0.592 0.538 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.560 None 1.000 8 0 2002 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.500 None 0.977 175 14 2001 2020
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.500 None 0.942 52 8 2003 2019
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.500 strong 1.000 1 0 2004 2004
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 1.000 50 4 1998 2020
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 0.975 40 2 2004 2019
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 0.974 38 5 1993 2020
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2 0.548 0.654 0.74
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 definitive 0.844 32 5 2001 2019
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 0.931 29 1 2009 2019
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A 0.522 0.808 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 0.960 25 2 1999 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
TSC complex subunit 1 0.440 0.808 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 0.958 24 0 1998 2019
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 moderate 0.955 22 0 2012 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 0.818 22 9 2005 2020
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
TSC complex subunit 2 0.439 0.808 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 1.000 17 0 1998 2019
Entrez Id: 4852
Gene Symbol: NPY
NPY
neuropeptide Y 0.447 0.846 0.14
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 1.000 14 0 1996 2019
Entrez Id: 348980
Gene Symbol: HCN1
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1 0.564 0.654 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 1.000 12 0 2003 2020
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 1.000 12 4 2008 2018
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
chromodomain helicase DNA binding protein 2 0.585 0.577 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 1.000 11 0 2012 2019
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
contactin associated protein 2 0.530 0.846 2.9E-09
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 1.000 11 0 2008 2020
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.400 None 1.000 11 0 1999 2020