Source: GENOMICS_ENGLAND

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: 6323
Gene Symbol: SCN1A
SCN1A
sodium voltage-gated channel alpha subunit 1 0.506 0.517 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.500 strong 1.000 0 0 2008 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
sodium voltage-gated channel alpha subunit 8 0.557 0.552 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.500 strong 1.000 0 0 2012 2018
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
cyclin dependent kinase like 5 0.551 0.448 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.500 strong 0.958 0 0 2007 2018
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.596 0.483 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.500 strong 1.000 0 0 2010 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
potassium voltage-gated channel subfamily Q member 2 0.557 0.483 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.500 strong 1.000 0 0 2003 2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
G protein subunit alpha o1 0.611 0.586 0.99
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.450 strong 1.000 0 0 2013 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.586 0.276 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.450 strong 1.000 0 0 2013 2018
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
potassium sodium-activated channel subfamily T member 1 0.621 0.172 2.9E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.440 strong 1.000 0 0 2016 2016
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1
phospholipase C beta 1 0.652 0.448 0.97
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.430 strong 1.000 0 0 2010 2016
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
chromodomain helicase DNA binding protein 2 0.624 0.310 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.430 strong 1.000 0 0 2013 2015
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5
solute carrier family 13 member 5 0.659 0.414 5.4E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.430 strong 1.000 0 0 2014 2017
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
gamma-aminobutyric acid type A receptor beta3 subunit 0.572 0.517 0.96
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.430 strong 1.000 0 0 2013 2018
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
potassium voltage-gated channel subfamily B member 1 0.773 0.241 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.430 strong 1.000 0 0 2014 2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
potassium voltage-gated channel subfamily A member 2 0.656 0.276 0.87
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.430 strong 1.000 0 0 2015 2018
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
SZT2, KICSTOR complex subunit 0.799 0.069 1.1E-15
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.420 strong 1.000 2 0 2013 2018
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.636 0.448 0.66
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.420 strong 1.000 2 0 2014 2017
Entrez Id: 16
Gene Symbol: AARS
AARS
alanyl-tRNA synthetase 0.667 0.345 8.1E-09
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.420 strong 1.000 0 0 2015 2018
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
dynamin 1 0.667 0.345 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.420 strong 1.000 0 0 2014 2016
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
phosphatidylinositol glycan anchor biosynthesis class A 0.590 0.552 0.96
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.420 strong 1.000 0 0 2015 2017
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
solute carrier family 25 member 22 0.701 0.207 4.1E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.420 strong 1.000 0 0 2009 2017
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
spectrin alpha, non-erythrocytic 1 0.611 0.552 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.410 strong 1.000 0 0 2015 2015
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
eukaryotic translation elongation factor 1 alpha 2 0.510 0.690 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.410 strong 1.000 0 0 2017 2017
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
sodium voltage-gated channel beta subunit 1 0.598 0.276 0.12
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.410 strong 1.000 0 0 2018 2018
Entrez Id: 85440
Gene Symbol: DOCK7
DOCK7
dedicator of cytokinesis 7 0.727 0.345 1.0E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.410 strong 1.000 0 0 2014 2014
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1
NECAP endocytosis associated 1 0.886 0.034 9.9E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.410 strong 1.000 0 0 2014 2014