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 0.400 None 0.989 177 0 1992 2020
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.500 None 0.963 82 11 2000 2020
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: 10084
Gene Symbol: PQBP1
PQBP1 		O60828 polyglutamine binding protein 1 Transcription factor 118 0.570 0.654 0.79 0.500 None 1.000 18 2 1998 2019
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1 		Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 103 0.617 0.692 1.00 0.100 None 1.000 18 0 2000 2019
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.100 None 1.000 18 0 1997 2019
Entrez Id: 2334
Gene Symbol: AFF2
AFF2 		P51816 AF4/FMR2 family member 2 Transcription factor 66 0.636 0.538 1.00 0.200 None 0.889 18 0 1996 2014
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1 		O60890 oligophrenin 1 Enzyme modulator 81 0.633 0.538 1.00 0.200 None 0.941 17 0 1999 2018
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: 51185
Gene Symbol: CRBN
CRBN 		Q96SW2 cereblon Enzyme 130 0.551 0.654 2.9E-04 0.100 None 1.000 16 1 2004 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: 60
Gene Symbol: ACTB
ACTB 		P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.200 None 1.000 15 0 1999 2019
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.200 None 1.000 15 1 2003 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: 5063
Gene Symbol: PAK3
PAK3 		O75914 p21 (RAC1) activated kinase 3 Kinase 134 0.569 0.731 0.99 0.200 None 1.000 14 3 1999 2020