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: 2904
Gene Symbol: GRIN2B
GRIN2B 		Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 249 0.510 0.692 1.00 0.110 None 1.000 1 2 2019 2019
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.100 None 1.000 1 2 2015 2015
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: 23394
Gene Symbol: ADNP
ADNP 		Q9H2P0 activity dependent neuroprotector homeobox 171 0.561 0.808 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: 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: 80816
Gene Symbol: ASXL3
ASXL3 		Q9C0F0 ASXL transcriptional regulator 3 149 0.590 0.577 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: 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: 4208
Gene Symbol: MEF2C
MEF2C 		Q06413 myocyte enhancer factor 2C Transcription factor 206 0.517 0.769 1.7E-02 0.030 None 1.000 3 0 2013 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2013 2014
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2 		Q7Z417 nuclear FMR1 interacting protein 2 58 0.641 0.577 1.00 0.020 None 1.000 2 0 2017 2019
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: 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: 383
Gene Symbol: ARG1
ARG1 		P05089 arginase 1 Enzyme 273 0.476 0.846 3.6E-04 0.020 None 1.000 2 0 2008 2015
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: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.020 None 1.000 2 0 2012 2018
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: 5309
Gene Symbol: PITX3
PITX3 		O75364 paired like homeodomain 3 93 0.585 0.692 0.81 0.010 None 1.000 1 0 2012 2012
Entrez Id: 8925
Gene Symbol: HERC1
HERC1 		Q15751 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 Enzyme modulator 57 0.674 0.500 1.00 0.010 None 1.000 1 0 2018 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: 80311
Gene Symbol: KLHL15
KLHL15 		Q96M94 kelch like family member 15 16 0.805 0.192 0.99 0.010 None 1.000 1 0 2014 2014