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: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.150 None 0.800 0 1 2007 2017
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.150 None 1.000 0 2 2014 2017
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
heterogeneous nuclear ribonucleoprotein U 0.575 0.654 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 0 1 2010 2017
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
pyridoxamine 5'-phosphate oxidase 0.659 0.500 1.1E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 0 1 2006 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
phosphatase and tensin homolog 0.305 0.923 0.26
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 0.750 0 2 2011 2018
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 0.750 0 2 2011 2018
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
syntaxin 1B 0.650 0.308 0.99
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 0 2 2014 2018
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
synaptic Ras GTPase activating protein 1 0.584 0.577 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 0 1 2017 2019
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
glutaminyl-tRNA synthetase 1 0.716 0.231 2.7E-13
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 2 2014 2015
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
solute carrier family 9 member A6 0.516 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 2 2011 2014
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
solute carrier family 6 member 8 0.476 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 1 2002 2019
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5
solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 1 2014 2017
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
phosphatidylinositol glycan anchor biosynthesis class V 0.636 0.615 1.5E-08
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 1 2011 2013
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
dynamin 1 0.595 0.692 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 1 2010 2015
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
arginyl-tRNA synthetase 2, mitochondrial 0.663 0.462 7.7E-14
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.120 None 1.000 0 2 2013 2016
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.434 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2018 2018
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
SATB homeobox 2 0.503 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2018 2018
Entrez Id: 2917
Gene Symbol: GRM7
GRM7
glutamate metabotropic receptor 7 0.628 0.538 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 3 2002 2002
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2014 2014
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
calcium voltage-gated channel subunit alpha1 C 0.510 0.846 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2013 2013
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
adhesion G protein-coupled receptor G1 0.590 0.654 5.3E-10
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2012 2012
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2
cytoplasmic FMR1 interacting protein 2 0.633 0.731 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2019 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
exostosin glycosyltransferase 2 0.576 0.654 1.3E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2015 2015
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
oligophrenin 1 0.633 0.538 1.00
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 1 2008 2008
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
phosphoglycerate dehydrogenase 0.484 0.885 1.3E-04
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.110 None 1.000 0 2 2000 2000