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: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.100 None 1.000 60 0 2003 2019
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.200 None 1.000 40 1 2002 2019
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.200 None 1.000 26 0 1996 2019
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2 		Q7Z417 nuclear FMR1 interacting protein 2 58 0.641 0.577 1.00 0.100 None 1.000 26 0 2001 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		P26367 paired box 6 340 0.450 0.769 1.00 0.500 None 1.000 23 0 1989 2019
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		O60828 polyglutamine binding protein 1 Transcription factor 118 0.570 0.654 0.79 0.500 None 1.000 18 2 1998 2019
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 103 0.617 0.692 1.00 0.100 None 1.000 18 0 2000 2019
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.100 None 1.000 18 0 1997 2019
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.200 None 1.000 17 0 2012 2019
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.500 None 1.000 17 0 2006 2019
Entrez Id: 51185
Gene Symbol: CRBN
CRBN 		Q96SW2 cereblon Enzyme 130 0.551 0.654 2.9E-04 0.100 None 1.000 16 1 2004 2019
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8 		P48029 solute carrier family 6 member 8 Transporter 274 0.476 0.846 1.00 0.500 strong 1.000 16 0 2006 2019
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		P41229 lysine demethylase 5C 119 0.581 0.538 1.00 0.600 None 1.000 16 1 2006 2020
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		Q5JU85 IQ motif and Sec7 domain ArfGEF 2 155 0.573 0.577 1.00 0.200 None 1.000 15 0 2010 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.200 None 1.000 15 0 1999 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.200 None 1.000 15 1 2003 2019
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		Q71F56 mediator complex subunit 13L 94 0.617 0.538 1.00 0.600 None 1.000 14 0 2003 2019
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		O75914 p21 (RAC1) activated kinase 3 Kinase 134 0.569 0.731 0.99 0.200 None 1.000 14 3 1999 2020
Entrez Id: 545
Gene Symbol: ATR
ATR 		Q13535 ATR serine/threonine kinase Kinase 321 0.456 0.923 3.5E-09 0.200 None 1.000 14 2 1995 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		P49815 TSC complex subunit 2 Enzyme modulator 410 0.439 0.808 1.00 0.200 None 1.000 14 2 1996 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		P58400 Q9ULB1 neurexin 1 139 0.581 0.692 1.00 0.400 None 1.000 14 0 2008 2017
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 198 0.534 0.769 1.00 0.200 None 1.000 13 0 2008 2018
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		Q9H334 forkhead box P1 317 0.460 0.808 1.00 0.200 None 1.000 13 2 2010 2019
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		P32004 L1 cell adhesion molecule 289 0.475 0.769 1.00 0.200 None 1.000 13 0 1995 2020
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		P15884 transcription factor 4 Transcription factor 378 0.464 0.846 1.00 0.100 None 1.000 13 0 2007 2019