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 40 0 2003 2014
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.100 None 1.000 21 1 1992 2011
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		P26367 paired box 6 340 0.450 0.769 1.00 0.100 None 1.000 20 0 1989 2019
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.200 None 1.000 15 1 1996 2017
Entrez Id: 7490
Gene Symbol: WT1
WT1 		P19544 WT1 transcription factor Nucleic acid binding 446 0.422 0.808 1.00 0.100 None 1.000 13 0 1989 2011
Entrez Id: 545
Gene Symbol: ATR
ATR 		Q13535 ATR serine/threonine kinase Kinase 321 0.456 0.923 3.5E-09 0.100 None 1.000 12 2 1995 2017
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		P32004 L1 cell adhesion molecule 289 0.475 0.769 1.00 0.100 None 1.000 11 0 1995 2020
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 11 0 2001 2017
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.200 None 1.000 11 2 1997 2019
Entrez Id: 54862
Gene Symbol: CC2D1A
CC2D1A 		Q6P1N0 coiled-coil and C2 domain containing 1A 72 0.628 0.462 8.5E-03 0.100 None 1.000 10 2 2006 2016
Entrez Id: 100528024
Gene Symbol: DEL11P13
DEL11P13 		Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome 24 0.716 0.538 0.100 None 1.000 10 0 1989 2011
Entrez Id: 412
Gene Symbol: STS
STS 		P08842 steroid sulfatase Enzyme 382 0.431 0.846 0.81 0.090 None 1.000 9 0 1985 2013
Entrez Id: 106478973
Gene Symbol: FMR1-IT1
FMR1-IT1 		FMR1 intronic transcript 1 29 0.716 0.385 0.090 None 1.000 9 0 1992 2008
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 103 0.617 0.692 1.00 0.180 None 1.000 8 1 2000 2013
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		O60828 polyglutamine binding protein 1 Transcription factor 118 0.570 0.654 0.79 0.180 None 1.000 8 1 1992 2011
Entrez Id: 51481
Gene Symbol: VCX3A
VCX3A 		Q9NNX9 variable charge X-linked 3A 16 0.736 0.308 0.31 0.070 None 1.000 7 0 2000 2013
Entrez Id: 9901
Gene Symbol: SRGAP3
SRGAP3 		O43295 SLIT-ROBO Rho GTPase activating protein 3 Enzyme modulator 30 0.711 0.346 1.00 0.070 None 1.000 7 0 2002 2018
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 0 2003 2013
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		O60315 zinc finger E-box binding homeobox 2 Transcription factor 292 0.471 0.808 1.00 0.070 None 1.000 7 0 2001 2012
Entrez Id: 51185
Gene Symbol: CRBN
CRBN 		Q96SW2 cereblon Enzyme 130 0.551 0.654 2.9E-04 0.070 None 1.000 7 1 2004 2018
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.060 None 1.000 6 0 2006 2016
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		O75072 fukutin 211 0.511 0.692 8.7E-07 0.060 None 1.000 6 0 2005 2013
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		P41225 SRY-box transcription factor 3 Transcription factor 151 0.535 0.731 0.45 0.060 None 1.000 6 0 2002 2014
Entrez Id: 5063
Gene Symbol: PAK3
PAK3 		O75914 p21 (RAC1) activated kinase 3 Kinase 134 0.569 0.731 0.99 0.060 None 1.000 6 2 1999 2008
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 127 0.566 0.692 1.00 0.050 None 1.000 5 0 1999 2015