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: 57492
Gene Symbol: ARID1B
ARID1B
Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.100 None 1.000 2 1 2012 2015
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
Q9Y6X0 SET binding protein 1 257 0.503 0.808 1.00 0.100 None 0 0
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 0.110 None 1.000 1 0 2009 2009
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 247 0.505 0.769 1.00 0.100 None 0 1
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.010 None 1.000 1 0 2010 2010
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
O75072 fukutin 211 0.511 0.692 8.7E-07 0.100 None 0 0
Entrez Id: 6506
Gene Symbol: SLC1A2
SLC1A2
P43004 solute carrier family 1 member 2 Transporter 208 0.511 0.731 0.71 0.100 None 0 0
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
Q9Y243 AKT serine/threonine kinase 3 Kinase 183 0.512 0.808 1.00 0.100 None 0 0
Entrez Id: 23028
Gene Symbol: KDM1A
KDM1A
O60341 lysine demethylase 1A Epigenetic regulator 185 0.512 0.808 1.00 0.100 None 0 0
Entrez Id: 2752
Gene Symbol: GLUL
GLUL
P15104 glutamate-ammonia ligase Enzyme 200 0.513 0.731 1.00 0.100 None 0 0
Entrez Id: 51360
Gene Symbol: MBTPS2
MBTPS2
O43462 membrane bound transcription factor peptidase, site 2 Enzyme 205 0.513 0.769 1.00 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.100 None 0 0
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
Q9BXM7 PTEN induced kinase 1 Kinase 209 0.516 0.769 1.9E-10 0.010 None 1.000 1 0 2010 2010
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.100 None 0 0
Entrez Id: 5053
Gene Symbol: PAH
PAH
P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.100 None 0 0
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
Q9NSU2 three prime repair exonuclease 1 241 0.517 0.808 0.58 0.100 None 0 0
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
Q06413 myocyte enhancer factor 2C Transcription factor 206 0.517 0.769 1.7E-02 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 0
Entrez Id: 9361
Gene Symbol: LONP1
LONP1
P36776 lon peptidase 1, mitochondrial Enzyme 197 0.517 0.808 1.00 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.100 None 0 0
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.120 None 1.000 2 1 2010 2013
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 212 0.522 0.808 1.00 0.100 None 0 0
Entrez Id: 3090
Gene Symbol: HIC1
HIC1
Q14526 HIC ZBTB transcriptional repressor 1 Transcription factor 163 0.522 0.615 0.13 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.100 None 0 0
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
P09471 G protein subunit alpha o1 Enzyme modulator 188 0.523 0.808 0.99 0.100 None 0 0