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: 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 1 0 2007 2020
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: 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 1 0 2012 2019
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
solute carrier family 35 member A2 0.525 0.808 0.72
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.340 strong 1.000 1 0 2010 2019
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C
lysine demethylase 5C 0.581 0.538 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.330 None 1.000 2 0 2007 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.320 moderate 1.000 1 0 2007 2017
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
protocadherin 12 0.722 0.346 2.9E-13
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.310 None 1.000 4 0 2008 2019
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3
eukaryotic translation initiation factor 2 subunit gamma 0.604 0.731 0.96
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.310 strong 1.000 1 0 2016 2017
Entrez Id: 81562
Gene Symbol: LMAN2L
LMAN2L
lectin, mannose binding 2 like 0.641 0.385 2.0E-11
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.310 None 1.000 1 0 2016 2016
Entrez Id: 27133
Gene Symbol: KCNH5
KCNH5
potassium voltage-gated channel subfamily H member 5 0.821 0.077 2.0E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.310 limited 1.000 1 0 2013 2013
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
arginyl-tRNA synthetase 2, mitochondrial 0.663 0.462 7.7E-14
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.310 None 1.000 1 0 2010 2019
Entrez Id: 5283
Gene Symbol: PIGH
PIGH
phosphatidylinositol glycan anchor biosynthesis class H 0.760 0.231 0.23
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.310 strong 1.000 1 0 2018 2018
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
glutamate dehydrogenase 1 0.584 0.731 7.0E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.310 strong 1.000 1 0 2001 2009
Entrez Id: 51114
Gene Symbol: ZDHHC9
ZDHHC9
zinc finger DHHC-type palmitoyltransferase 9 0.670 0.577 0.74
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.310 strong 1.000 1 0 2018 2019
Entrez Id: 3751
Gene Symbol: KCND2
KCND2
potassium voltage-gated channel subfamily D member 2 0.751 0.308 1.2E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.310 limited 1.000 1 0 2014 2018
Entrez Id: 392636
Gene Symbol: AGMO
AGMO
alkylglycerol monooxygenase 0.780 0.423 6.8E-26
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.300 None 1.000 2 0 2016 2019
Entrez Id: 124454
Gene Symbol: EARS2
EARS2
glutamyl-tRNA synthetase 2, mitochondrial 0.666 0.538 1.1E-08
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.300 strong 1.000 1 0 2012 2012
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q 0.610 0.577 1.4E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6
solute carrier family 5 member 6 0.674 0.577 6.1E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 343450
Gene Symbol: KCNT2
KCNT2
potassium sodium-activated channel subfamily T member 2 0.711 0.308 4.2E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 83939
Gene Symbol: EIF2A
EIF2A
eukaryotic translation initiation factor 2A 0.780 0.346 6.0E-09
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 26115
Gene Symbol: TANC2
TANC2
tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 0.861 0.154 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.300 strong 1.000 1 0 1996 1996
Entrez Id: 460
Gene Symbol: ASTN1
ASTN1
astrotactin 1 0.736 0.308 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 9739
Gene Symbol: SETD1A
SETD1A
SET domain containing 1A, histone lysine methyltransferase 0.619 0.615 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.300 None 1.000 1 0 2019 2019