Source: INFERRED

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: 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 2 2 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 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: 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: 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: 23271
Gene Symbol: CAMSAP2
CAMSAP2
calmodulin regulated spectrin associated protein family member 2 0.792 0.231 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.120 None 1.000 1 1 2012 2013
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: 1131
Gene Symbol: CHRM3
CHRM3
cholinergic receptor muscarinic 3 0.464 0.885 0.99
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.110 None 1.000 1 1 2011 2012
Entrez Id: 9734
Gene Symbol: HDAC9
HDAC9
histone deacetylase 9 0.439 0.846 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.110 None 1.000 1 1 2015 2017
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: 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: 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: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 0.636 0.346
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 1.000 2 2 2014 2018
Entrez Id: 57585
Gene Symbol: CRAMP1
CRAMP1
cramped chromatin regulator homolog 1 0.805 0.308 5.0E-02
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 101929660
Gene Symbol: LINC02109
LINC02109
long intergenic non-protein coding RNA 2109 0.821 0.115
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 1.000 1 1 2015 2015
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: 5789
Gene Symbol: PTPRD
PTPRD
protein tyrosine phosphatase receptor type D 0.584 0.731 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 1.000 1 1 2014 2014
Entrez Id: 56944
Gene Symbol: OLFML3
OLFML3
olfactomedin like 3 0.890 0.154 5.6E-08
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 100861552
Gene Symbol: LINC00558
LINC00558
long intergenic non-protein coding RNA 558 0.931 0.077
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 100129385
Gene Symbol: C9orf92
C9orf92
chromosome 9 open reading frame 92 0.890 0.115 4.1E-08
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 375449
Gene Symbol: MAST4
MAST4
microtubule associated serine/threonine kinase family member 4 0.805 0.346 1.2E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.100 None 1.000 1 1 2012 2012