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: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.200 None 1.000 15 2 2000 2018
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
Q06413 myocyte enhancer factor 2C Transcription factor 206 0.517 0.769 1.7E-02 0.180 None 1.000 9 1 2009 2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
P15884 transcription factor 4 Transcription factor 378 0.464 0.846 1.00 0.180 None 1.000 8 1 2007 2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.070 None 1.000 7 1 2003 2019
Entrez Id: 8573
Gene Symbol: CASK
CASK
O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.050 None 1.000 5 1 2008 2018
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
P36021 solute carrier family 16 member 2 Transporter 108 0.592 0.577 0.99 0.150 None 1.000 5 0 2006 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 1368 0.303 0.885 1.00 0.110 None 1.000 4 1 1989 2019
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.040 None 1.000 4 0 2008 2016
Entrez Id: 545
Gene Symbol: ATR
ATR
Q13535 ATR serine/threonine kinase Kinase 321 0.456 0.923 3.5E-09 0.040 None 1.000 4 0 2001 2011
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.140 None 1.000 4 1 2005 2019
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.130 None 1.000 3 1 2000 2012
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
P32004 L1 cell adhesion molecule 289 0.475 0.769 1.00 0.130 None 1.000 3 0 2006 2016
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A
P49459 ubiquitin conjugating enzyme E2 A 96 0.623 0.692 0.81 0.130 None 1.000 3 0 2010 2019
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
O60315 zinc finger E-box binding homeobox 2 Transcription factor 292 0.471 0.808 1.00 0.130 None 1.000 3 0 2004 2015
Entrez Id: 5053
Gene Symbol: PAH
PAH
P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.130 None 1.000 3 0 1993 2015
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
P58400 Q9ULB1 neurexin 1 139 0.581 0.692 1.00 0.130 None 1.000 3 0 2009 2013
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.130 None 1.000 3 0 1994 2002
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.030 None 1.000 3 0 2005 2015
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
Q9BUB7 transmembrane protein 70 83 0.636 0.654 2.9E-02 0.100 None 1.000 3 1 2008 2014
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
Q8IZF0 sodium leak channel, non-selective Ion channel 143 0.587 0.615 8.5E-14 0.120 None 1.000 3 1 2015 2019
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
Q5JU85 IQ motif and Sec7 domain ArfGEF 2 155 0.573 0.577 1.00 0.130 None 1.000 3 1 2014 2016
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 136 0.593 0.654 1.00 0.120 None 1.000 2 0 2013 2019
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 371 0.460 0.808 1.00 0.120 None 1.000 2 0 2016 2017
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6
Q9HCJ5 zinc finger SWIM-type containing 6 95 0.626 0.577 1.00 0.120 None 1.000 2 1 2017 2017
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.120 None 1.000 2 0 2005 2008