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: 57492
Gene Symbol: ARID1B
ARID1B
Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.100 None 0 1
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
Q8IZD2 lysine methyltransferase 2E 65 0.682 0.423 1.00 0.100 None 0 2
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
Q9C0F0 ASXL transcriptional regulator 3 149 0.590 0.577 1.00 0.100 None 0 1
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
Q9H2P0 activity dependent neuroprotector homeobox 171 0.561 0.808 1.00 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.100 None 0 1
Entrez Id: 2033
Gene Symbol: EP300
EP300
Q09472 E1A binding protein p300 345 0.459 0.846 1.00 0.100 None 0 1
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 1993 2019
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 0.030 None 1.000 3 0 1993 2000
Entrez Id: 106478973
Gene Symbol: FMR1-IT1
FMR1-IT1
FMR1 intronic transcript 1 29 0.716 0.385 0.010 None 1.000 1 0 1993 1993
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE
fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.020 None 1.000 2 0 1995 1996
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.020 None 1.000 2 0 2000 2018
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2
P24043 laminin subunit alpha 2 Enzyme modulator 167 0.553 0.692 2.4E-47 0.010 None 1.000 1 0 2001 2001
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
O15120 1-acylglycerol-3-phosphate O-acyltransferase 2 125 0.585 0.654 1.2E-07 0.010 None 1.000 1 0 2002 2002
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.010 None 1.000 1 0 2002 2002
Entrez Id: 10752
Gene Symbol: CHL1
CHL1
O00533 cell adhesion molecule L1 like 73 0.603 0.654 8.9E-12 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
Q92796 discs large MAGUK scaffold protein 3 144 0.544 0.615 1.00 0.010 None 1.000 1 0 2004 2004
Entrez Id: 627
Gene Symbol: BDNF
BDNF
P23560 brain derived neurotrophic factor Signaling 992 0.345 0.923 0.66 0.010 None 1.000 1 0 2004 2004
Entrez Id: 348
Gene Symbol: APOE
APOE
P02649 apolipoprotein E 1049 0.338 0.962 1.9E-03 0.010 None 1.000 1 0 2004 2004
Entrez Id: 338811
Gene Symbol: TAFA2
TAFA2
Q8N3H0 TAFA chemokine like family member 2 15 0.780 0.192 0.34 0.020 None 1.000 2 0 2005 2018
Entrez Id: 4846
Gene Symbol: NOS3
NOS3
P29474 nitric oxide synthase 3 706 0.378 0.885 6.7E-07 0.010 None 1.000 1 0 2005 2005
Entrez Id: 26609
Gene Symbol: VCX
VCX
Q9H320 variable charge X-linked 22 0.716 0.538 0.34 0.010 None 1.000 1 0 2005 2005
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.020 None 1.000 2 0 2006 2008
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 247 0.505 0.769 1.00 0.010 None 1.000 1 0 2007 2007