Source: CLINVAR

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 0 1 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 0 1 2004 2018
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 1 1 2003 2019
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2
ATPase Na+/K+ transporting subunit alpha 2 0.597 0.615 1.8E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.200 None 1.000 1 2 2005 2020
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.200 None 0.962 0 1 2003 2019
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5
solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.150 None 1.000 0 1 2015 2018
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3 0.544 0.615 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.130 None 1.000 0 1 2015 2019
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.130 None 1.000 0 1 2008 2018
Entrez Id: 57094
Gene Symbol: CPA6
CPA6
carboxypeptidase A6 0.716 0.346 4.4E-17
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.120 None 1.000 0 1 2012 2015
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
TBC1 domain containing kinase 0.650 0.654 2.1E-15
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.110 None 1.000 0 1 2018 2018
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
thyroid stimulating hormone receptor 0.486 0.808 3.0E-15
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 22884
Gene Symbol: WDR37
WDR37
WD repeat domain 37 0.751 0.231 0.57
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.110 None 1.000 0 1 2019 2019
Entrez Id: 4514
Gene Symbol: COX3
COX3
cytochrome c oxidase III 0.546 0.808
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
peroxisomal biogenesis factor 5 0.561 0.731 5.6E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Bardet-Biedl syndrome 1 0.593 0.692 3.4E-12
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 0 1
Entrez Id: 8785
Gene Symbol: MATN4
MATN4
matrilin 4 0.769 0.308 1.1E-08
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 0 1
Entrez Id: 9354
Gene Symbol: UBE4A
UBE4A
ubiquitination factor E4A 0.729 0.308 0.11
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 0 1
Entrez Id: 56131
Gene Symbol: PCDHB4
PCDHB4
protocadherin beta 4 0.931 0.077 7.0E-12
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 0 1
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 0 1
Entrez Id: 54617
Gene Symbol: INO80
INO80
INO80 complex ATPase subunit 0.751 0.385 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 0 2
Entrez Id: 112714
Gene Symbol: TUBA3E
TUBA3E
tubulin alpha 3e 0.861 0.115 2.0E-08
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 0 1
Entrez Id: 113246
Gene Symbol: C12orf57
C12orf57
chromosome 12 open reading frame 57 0.641 0.500 5.2E-05
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 0 1
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15
tRNA splicing endonuclease subunit 15 0.769 0.115 0.28
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 0 1
Entrez Id: 127343
Gene Symbol: DMBX1
DMBX1
diencephalon/mesencephalon homeobox 1 0.780 0.115 0.93
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 0 1
Entrez Id: 145508
Gene Symbol: CEP128
CEP128
centrosomal protein 128 0.780 0.423 4.7E-23
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 0 1