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: 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: 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: 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: 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: 6535
Gene Symbol: SLC6A8
SLC6A8
P48029 solute carrier family 6 member 8 Transporter 274 0.476 0.846 1.00 0.500 strong 1.000 16 0 2006 2019
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: 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: 9378
Gene Symbol: NRXN1
NRXN1
P58400 Q9ULB1 neurexin 1 139 0.581 0.692 1.00 0.400 None 1.000 14 0 2008 2017
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 198 0.534 0.769 1.00 0.200 None 1.000 13 0 2008 2018
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
P32004 L1 cell adhesion molecule 289 0.475 0.769 1.00 0.200 None 1.000 13 0 1995 2020
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
P15884 transcription factor 4 Transcription factor 378 0.464 0.846 1.00 0.100 None 1.000 13 0 2007 2019
Entrez Id: 7490
Gene Symbol: WT1
WT1
P19544 WT1 transcription factor Nucleic acid binding 446 0.422 0.808 1.00 0.200 None 1.000 13 0 1989 2011
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.100 None 0.917 12 0 1991 2019
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
Q9H2P0 activity dependent neuroprotector homeobox 171 0.561 0.808 1.00 0.200 None 1.000 12 0 2007 2019
Entrez Id: 414
Gene Symbol: ARSD
ARSD
P51689 arylsulfatase D Enzyme 163 0.535 0.808 1.6E-03 0.100 None 1.000 12 0 2011 2020