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: 2481
Gene Symbol: FRAXE
FRAXE 		fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.100 None 0.974 39 0 1993 2014
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA 		fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 50 0.641 0.462 0.100 None 0.879 33 0 1992 2009
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		Q8TAB3 protocadherin 19 93 0.599 0.462 1.00 0.200 None 0.964 28 1 2008 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: 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: 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: 1741
Gene Symbol: DLG3
DLG3 		Q92796 discs large MAGUK scaffold protein 3 144 0.544 0.615 1.00 0.200 None 0.867 15 1 1999 2018
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: 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: 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: 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: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 484 0.423 0.923 1.00 0.100 None 0.917 12 0 1991 2019
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		Q9H2P0 activity dependent neuroprotector homeobox 171 0.561 0.808 1.00 0.200 None 1.000 12 0 2007 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 11 2 2006 2017
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: 340533
Gene Symbol: NEXMIF
NEXMIF 		Q5QGS0 neurite extension and migration factor 66 0.659 0.385 1.00 0.200 None 1.000 10 0 2004 2020
Entrez Id: 57502
Gene Symbol: NLGN4X
NLGN4X 		Q8N0W4 neuroligin 4 X-linked 45 0.686 0.423 0.99 0.200 None 0.800 10 1 2004 2016
Entrez Id: 83696
Gene Symbol: TRAPPC9
TRAPPC9 		Q96Q05 trafficking protein particle complex 9 111 0.603 0.577 2.3E-14 0.200 None 1.000 10 0 2009 2018
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