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: 2475
Gene Symbol: MTOR
MTOR
P42345 mechanistic target of rapamycin kinase Kinase 86 0.343 0.885 1.00 0.110 None 1.000 0 1 2018 2018
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
P78381 solute carrier family 35 member A2 Transporter 48 0.525 0.808 0.72 0.100 None 1.000 1 1 2019 2019
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Q6ZRS2 Snf2 related CREBBP activator protein 57 0.610 0.731 1.00 0.100 None 0 1
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
Q9UJ55 MAGE family member L2 Cell adhesion 91 0.560 0.654 0.98 0.100 None 0 1
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
Q2TAL8 glutamine rich 1 Enzyme modulator 34 0.716 0.423 1.00 0.100 None 0 1
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
Q76L83 ASXL transcriptional regulator 2 43 0.617 0.692 1.00 0.100 None 0 1
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
Q9NZV5 selenoprotein N 25 0.575 0.692 9.8E-10 0.100 None 0 3
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 83 0.510 0.731 1.00 0.100 None 0 1
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 57 0.489 0.769 1.00 0.100 None 0 1
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
Q04721 notch receptor 2 17 0.441 0.808 1.00 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 61 0.410 0.885 1.00 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 150 0.414 0.846 0.89 0.100 None 0 2
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
P84243 H3.3 histone A 68 0.559 0.692 0.12 0.100 None 0 1
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
Q8N2C7 unc-80 homolog, NALCN channel complex subunit 63 0.626 0.462 5.2E-02 0.100 None 0 1
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
Q8WXX7 activator of transcription and developmental regulator AUTS2 36 0.569 0.846 1.00 0.100 None 0 1
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
Q9UPW5 ATP/GTP binding protein 1 Enzyme 25 0.650 0.538 0.42 0.100 None 0 2
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
P12109 collagen type VI alpha 1 chain Receptor 69 0.587 0.731 1.00 0.100 None 0 1
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 78 0.444 0.846 1.00 0.100 None 0 1
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.100 None 0 1