Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.200 None 0 0
Entrez Id: 1759
Gene Symbol: DNM1
DNM1 		Q05193 dynamin 1 Enzyme modulator 114 0.595 0.692 1.00 0.300 definitive 1.000 10 0 1993 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		P09471 G protein subunit alpha o1 Enzyme modulator 188 0.523 0.808 0.99 0.510 definitive 1.000 13 0 1997 2019
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA 		P67775 protein phosphatase 2 catalytic subunit alpha 87 0.608 0.769 0.99 0.010 None 1.000 1 0 2001 2001
Entrez Id: 3381
Gene Symbol: IBSP
IBSP 		P21815 integrin binding sialoprotein Extracellular structure 47 0.653 0.538 1.4E-11 0.010 None 1.000 1 0 2002 2002
Entrez Id: 10664
Gene Symbol: CTCF
CTCF 		P49711 CCCTC-binding factor Transcription factor 186 0.504 0.769 1.00 0.010 None 1.000 1 0 2003 2003
Entrez Id: 3481
Gene Symbol: IGF2
IGF2 		P01344 insulin like growth factor 2 604 0.390 0.885 4.4E-02 0.010 None 1.000 1 0 2003 2003
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.780 definitive 0.944 18 1 2007 2018
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.400 None 0.947 19 0 2008 2018
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22 		Q9H936 solute carrier family 25 member 22 Transporter 106 0.595 0.577 6.6E-03 0.300 None 1.000 1 0 2009 2009
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.300 None 1.000 1 0 2010 2010
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.010 None 1.000 1 0 2010 2010
Entrez Id: 4281
Gene Symbol: MID1
MID1 		O15344 midline 1 77 0.621 0.654 0.98 0.010 None 1.000 1 0 2011 2011
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		P31749 AKT serine/threonine kinase 1 Kinase 1250 0.311 0.962 0.98 0.020 None 1.000 2 0 2012 2018
Entrez Id: 8573
Gene Symbol: CASK
CASK 		O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.310 None 1.000 1 0 2012 2012
Entrez Id: 406993
Gene Symbol: MIR211
MIR211 		microRNA 211 106 0.552 0.577 0.010 None 1.000 1 0 2012 2012
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.500 None 1.000 1 0 2012 2012
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.360 None 1.000 6 0 2013 2019
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 175 0.537 0.654 1.00 0.040 None 1.000 4 1 2013 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		P04637 tumor protein p53 Transcription factor 2494 0.236 0.962 0.53 0.020 None 1.000 2 0 2014 2018
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1 		Q6PJG6 BRCA1 associated ATM activator 1 61 0.695 0.231 7.4E-13 0.010 None 1.000 1 0 2014 2014
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 116 0.610 0.577 1.4E-06 0.310 None 1.000 1 0 2014 2014
Entrez Id: 150094
Gene Symbol: SIK1
SIK1 		A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 157 0.544 0.731 0.94 0.500 limited 1.000 2 0 2015 2017
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 72 0.610 0.308 2.8E-05 0.020 None 1.000 2 0 2015 2015
Entrez Id: 80381
Gene Symbol: CD276
CD276 		Q5ZPR3 CD276 molecule Enzyme modulator 169 0.505 0.731 2.5E-09 0.010 None 1.000 1 0 2016 2016