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: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.200 None 0.957 47 10 2000 2013
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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