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: 23258
Gene Symbol: DENND5A
DENND5A
DENN domain containing 5A 0.886 0.034 3.6E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
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
Entrez Id: 53944
Gene Symbol: CSNK1G1
CSNK1G1
casein kinase 1 gamma 1 1.000 0.034 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 limited 0 0
Entrez Id: 387787
Gene Symbol: LIPT2
LIPT2
lipoyl(octanoyl) transferase 2 0.886 0.034 0.61
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
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: 3746
Gene Symbol: KCNC1
KCNC1
potassium voltage-gated channel subfamily C member 1 0.752 0.069 0.99
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
BRCA1 associated ATM activator 1 0.785 0.069 1.9E-11
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
syntaxin 1B 0.713 0.103 0.98
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 1 0 2015 2015
Entrez Id: 6096
Gene Symbol: RORB
RORB
RAR related orphan receptor B 0.857 0.103 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
calcium voltage-gated channel subunit alpha1 H 0.735 0.103 8.9E-09
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 limited 0 0
Entrez Id: 9853
Gene Symbol: RUSC2
RUSC2
RUN and SH3 domain containing 2 0.928 0.103 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 23067
Gene Symbol: SETD1B
SETD1B
SET domain containing 1B 0.886 0.103 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 50651
Gene Symbol: SLC45A1
SLC45A1
solute carrier family 45 member 1 0.834 0.103 5.9E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 51133
Gene Symbol: KCTD3
KCTD3
potassium channel tetramerization domain containing 3 0.928 0.103 8.8E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 122553
Gene Symbol: TRAPPC6B
TRAPPC6B
trafficking protein particle complex 6B 0.928 0.103 1.5E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 10695
Gene Symbol: CNPY3
CNPY3
canopy FGF signaling regulator 3 0.928 0.138 0.42
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
coenzyme Q4 0.857 0.138 1.6E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 64801
Gene Symbol: ARV1
ARV1
ARV1 homolog, fatty acid homeostasis modulator 0.799 0.138 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.400 strong 0 0
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
tripartite motif containing 8 0.799 0.138 0.99
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
GTP binding protein 3, mitochondrial 0.785 0.138 1.3E-08
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 166336
Gene Symbol: PRICKLE2
PRICKLE2
prickle planar cell polarity protein 2 0.886 0.138 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 limited 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
WD repeat domain 45B 0.834 0.172 0.13
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 2 0 2012 2018
Entrez Id: 22906
Gene Symbol: TRAK1
TRAK1
trafficking kinesin protein 1 0.834 0.172 2.0E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 1 0 2017 2017
Entrez Id: 610
Gene Symbol: HCN2
HCN2
hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 0.713 0.172 0.84
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 0 0
Entrez Id: 6327
Gene Symbol: SCN2B
SCN2B
sodium voltage-gated channel beta subunit 2 0.752 0.172 1.7E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 limited 0 0