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: 6263
Gene Symbol: RYR3
RYR3
ryanodine receptor 3 0.666 0.462 0.71
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 limited 1.000 2 0 2014 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 1.000 2 0 2004 2017
Entrez Id: 9863
Gene Symbol: MAGI2
MAGI2
membrane associated guanylate kinase, WW and PDZ domain containing 2 0.579 0.654 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 23327
Gene Symbol: NEDD4L
NEDD4L
NEDD4 like E3 ubiquitin protein ligase 0.573 0.731 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 limited 1.000 1 0 2013 2013
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
aminoacyl tRNA synthetase complex interacting multifunctional protein 2 0.393 0.923 8.0E-03
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 8021
Gene Symbol: NUP214
NUP214
nucleoporin 214 0.638 0.385 5.5E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 None 1.000 1 0 2019 2019
Entrez Id: 158
Gene Symbol: ADSL
ADSL
adenylosuccinate lyase 0.631 0.654 8.9E-12
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
structural maintenance of chromosomes 1A 0.509 0.808 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.310 strong 1.000 2 0 2006 2015
Entrez Id: 9373
Gene Symbol: PLAA
PLAA
phospholipase A2 activating protein 0.597 0.692 0.47
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.310 strong 1.000 1 0 2017 2017
Entrez Id: 5602
Gene Symbol: MAPK10
MAPK10
mitogen-activated protein kinase 10 0.606 0.692 0.28
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.310 limited 1.000 1 0 2006 2013
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
actin like 6B 0.656 0.462 2.8E-04
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.310 strong 1.000 1 0 2019 2019
Entrez Id: 51133
Gene Symbol: KCTD3
KCTD3
potassium channel tetramerization domain containing 3 0.931 0.115 0.10
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.310 strong 1.000 1 0 2015 2018
Entrez Id: 10243
Gene Symbol: GPHN
GPHN
gephyrin 0.608 0.538 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.310 strong 1.000 1 0 2015 2016
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
ALG13 UDP-N-acetylglucosaminyltransferase subunit 0.631 0.577 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.320 moderate 1.000 2 0 2012 2017
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.330 strong 1.000 1 0 2007 2016
Entrez Id: 23258
Gene Symbol: DENND5A
DENND5A
DENN domain containing 5A 0.821 0.115 5.8E-02
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.400 moderate 1.000 2 0 2016 2017
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
heterogeneous nuclear ribonucleoprotein U 0.575 0.654 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.400 None 1.000 2 4 2013 2017
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.400 None 1.000 1 1 2012 2012
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
gamma-aminobutyric acid type B receptor subunit 2 0.650 0.538 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.410 None 1.000 3 0 2014 2018
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
gamma-aminobutyric acid type A receptor subunit alpha1 0.563 0.577 0.91
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.410 moderate 1.000 1 1 2013 2019
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
solute carrier family 1 member 2 0.511 0.731 0.71
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.410 moderate 1.000 1 0 2016 2019
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.410 strong 1.000 1 0 2013 2016
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
chromodomain helicase DNA binding protein 2 0.585 0.577 1.00
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.430 None 1.000 1 0 2013 2015
Entrez Id: 2257
Gene Symbol: FGF12
FGF12
fibroblast growth factor 12 0.619 0.615 0.62
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease 0.430 None 1.000 1 0 2016 2018