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: 2332
Gene Symbol: FMR1
FMR1 		Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.100 None 0.990 104 0 1992 2017
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: 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: 2334
Gene Symbol: AFF2
AFF2 		P51816 AF4/FMR2 family member 2 Transcription factor 66 0.636 0.538 1.00 0.100 None 0.929 14 0 1992 2011
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: 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: 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: 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: 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: 4983
Gene Symbol: OPHN1
OPHN1 		O60890 oligophrenin 1 Enzyme modulator 81 0.633 0.538 1.00 0.090 None 0.889 9 0 1999 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 9429
Gene Symbol: ABCG2
ABCG2 		Q9UNQ0 ATP binding cassette subfamily G member 2 (Junior blood group) Transporter 420 0.419 0.885 2.1E-32 0.050 None 1.000 5 0 1999 2011