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: 2539
Gene Symbol: G6PD
G6PD 		P11413 glucose-6-phosphate dehydrogenase Enzyme 410 0.424 0.846 0.97 0.020 None < 0.001 2 0 1983 1984
Entrez Id: 412
Gene Symbol: STS
STS 		P08842 steroid sulfatase Enzyme 382 0.431 0.846 0.81 0.010 None < 0.001 1 0 1996 1996
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 0.010 None < 0.001 1 0 2000 2000
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.020 None 0.500 2 0 2004 2010
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		P49459 ubiquitin conjugating enzyme E2 A 96 0.623 0.692 0.81 0.030 None 0.667 3 0 2006 2010
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE 		fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.070 None 0.857 7 0 1993 2006
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		P41229 lysine demethylase 5C 119 0.581 0.538 1.00 0.100 None 0.900 10 0 1992 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0.935 31 2 2000 2019
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.100 None 0.944 18 0 1996 2008
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.400 None 1.000 15 0 1997 2011
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1 		O60828 polyglutamine binding protein 1 Transcription factor 118 0.570 0.654 0.79 0.400 None 1.000 13 0 1994 2013
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		Q9UPP1 PHD finger protein 8 75 0.631 0.577 1.00 0.100 None 1.000 11 1 2005 2017
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		Q92796 discs large MAGUK scaffold protein 3 144 0.544 0.615 1.00 0.400 None 1.000 11 1 1984 2011
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		O60890 oligophrenin 1 Enzyme modulator 81 0.633 0.538 1.00 0.400 None 1.000 11 0 1998 2014
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 103 0.617 0.692 1.00 0.580 strong 1.000 9 0 1992 2013
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.090 None 1.000 9 0 1992 2006
Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8 		P48029 solute carrier family 6 member 8 Transporter 274 0.476 0.846 1.00 0.370 None 1.000 8 2 2002 2012
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		Q13620 cullin 4B Enzyme 162 0.556 0.769 1.00 0.080 None 1.000 8 0 2007 2012
Entrez Id: 8573
Gene Symbol: CASK
CASK 		O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.350 None 1.000 7 0 2008 2017
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.060 None 1.000 6 0 1994 2015
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		P32004 L1 cell adhesion molecule 289 0.475 0.769 1.00 0.050 None 1.000 5 0 1994 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 1996 2002
Entrez Id: 8932
Gene Symbol: MBD2
MBD2 		Q9UBB5 methyl-CpG binding domain protein 2 Epigenetic regulator 256 0.466 0.846 0.35 0.050 None 1.000 5 0 2007 2016
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 93 0.631 0.615 0.87 0.050 None 1.000 5 0 2006 2019
Entrez Id: 6658
Gene Symbol: SOX3
SOX3 		P41225 SRY-box transcription factor 3 Transcription factor 151 0.535 0.731 0.45 0.040 None 1.000 4 0 1993 2018