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: 2481
Gene Symbol: FRAXE
FRAXE 		fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.100 None 0.970 33 0 1993 2011
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 0.875 32 0 1992 2009
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		Q8TAB3 protocadherin 19 93 0.599 0.462 1.00 0.100 None 0.957 23 1 2008 2019
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: 1741
Gene Symbol: DLG3
DLG3 		Q92796 discs large MAGUK scaffold protein 3 144 0.544 0.615 1.00 0.100 None 0.818 11 1 1999 2011
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: 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: 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: 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: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 484 0.423 0.923 1.00 0.080 None 0.875 8 0 1991 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: 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: 57502
Gene Symbol: NLGN4X
NLGN4X 		Q8N0W4 neuroligin 4 X-linked 45 0.686 0.423 0.99 0.060 None 0.667 6 0 2004 2009
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		Q92574 TSC complex subunit 1 391 0.440 0.808 1.00 0.060 None 0.833 6 0 1997 2018
Entrez Id: 348
Gene Symbol: APOE
APOE 		P02649 apolipoprotein E 1049 0.338 0.962 1.9E-03 0.050 None 0.800 5 0 1995 2014
Entrez Id: 83696
Gene Symbol: TRAPPC9
TRAPPC9 		Q96Q05 trafficking protein particle complex 9 111 0.603 0.577 2.3E-14 0.050 None 1.000 5 0 2009 2018
Entrez Id: 1641
Gene Symbol: DCX
DCX 		O43602 doublecortin 175 0.511 0.769 0.30 0.040 None 1.000 4 0 1998 2009
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 0.040 None 1.000 4 0 2007 2014
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1 		P51610 host cell factor C1 100 0.601 0.692 1.00 0.140 None 0.750 4 1 1992 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.040 None 1.000 4 5 1998 2011