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: 2775
Gene Symbol: GNAO1
GNAO1
G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.450 strong 1.000 0 1 2013 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.430 moderate 1.000 1 3 2015 2018
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
dynamin 1 0.595 0.692 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.430 None 1.000 0 1 2014 2018
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.410 moderate 1.000 0 1 2013 2019
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
heterogeneous nuclear ribonucleoprotein U 0.575 0.654 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.400 None 1.000 1 4 2013 2017
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.400 None 1.000 0 1 2012 2012
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.200 None 1.000 0 6 2011 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.537 0.654 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.200 None 1.000 0 7 2003 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.477 0.808 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.200 None 1.000 0 5 2011 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.200 None 1.000 0 5 2012 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.522 0.692 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.200 None 0.966 0 5 2007 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.180 None 1.000 0 9 2013 2019
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.170 None 1.000 0 2 2015 2019
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
gamma-aminobutyric acid type A receptor subunit beta3 0.546 0.615 0.95
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.150 None 1.000 0 2 2013 2019
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
potassium voltage-gated channel subfamily B member 1 0.650 0.462 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.150 None 1.000 0 19 2014 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.140 None 1.000 0 1 2013 2019
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
spectrin alpha, non-erythrocytic 1 0.601 0.615 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.130 None 1.000 0 1 2015 2018
Entrez Id: 348980
Gene Symbol: HCN1
HCN1
hyperpolarization activated cyclic nucleotide gated potassium channel 1 0.564 0.654 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.130 None 1.000 0 2 2014 2018
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2
calcium voltage-gated channel auxiliary subunit alpha2delta 2 0.626 0.615 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.120 None 0.500 0 1 2013 2019
Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10
solute carrier family 25 member 10 0.666 0.500 5.9E-10
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.110 None 1.000 1 1 2018 2018
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2
adaptor related protein complex 3 subunit beta 2 0.691 0.346 0.77
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.110 None 1.000 0 2 2016 2016
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
protein phosphatase 3 catalytic subunit alpha 0.568 0.769 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 7407
Gene Symbol: VARS1
VARS1
valyl-tRNA synthetase 1 0.711 0.500 1.8E-08
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.110 None 1.000 0 2 2019 2019
Entrez Id: 7358
Gene Symbol: UGDH
UGDH
UDP-glucose 6-dehydrogenase 0.678 0.615 6.8E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.100 None 1.000 1 1 2020 2020
Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1
cyclin dependent kinase 2 associated protein 1 0.656 0.538 0.45
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.100 None 0 1