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 960 0.343 0.885 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: 55869
Gene Symbol: HDAC8
HDAC8
Q9BY41 histone deacetylase 8 Epigenetic regulator 236 0.511 0.885 0.98 0.100 None 0 1
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
O60216 RAD21 cohesin complex component 192 0.528 0.846 1.00 0.100 None 1.000 1 1 2019 2019
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
Q8WXX7 activator of transcription and developmental regulator AUTS2 149 0.569 0.846 1.00 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 1
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.100 None 0 1
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
Q12824 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 Nucleic acid binding 448 0.434 0.846 1.00 0.100 None 0 1
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.100 None 0 2
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
P78381 solute carrier family 35 member A2 Transporter 197 0.525 0.808 0.72 0.100 None 1.000 1 1 2019 2019
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 2
Entrez Id: 1103
Gene Symbol: CHAT
CHAT
P28329 choline O-acetyltransferase Enzyme 230 0.520 0.808 5.6E-11 0.100 None 0 2
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 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: 284217
Gene Symbol: LAMA1
LAMA1
P25391 laminin subunit alpha 1 107 0.582 0.808 3.2E-32 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
Q6UB99 ankyrin repeat domain 11 177 0.556 0.808 1.00 0.100 None 0 1
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
Q04721 notch receptor 2 384 0.441 0.808 1.00 0.100 None 0 1
Entrez Id: 56052
Gene Symbol: ALG1
ALG1
Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 95 0.610 0.808 3.6E-19 0.100 None 0 3
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.100 None 0 1
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
P20908 collagen type V alpha 1 chain 199 0.536 0.769 1.00 0.100 None 0 1
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 121 0.595 0.769 1.00 0.100 None 0 4
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
Q08209 protein phosphatase 3 catalytic subunit alpha 149 0.568 0.769 1.00 0.100 None 0 1
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Q6ZRS2 Snf2 related CREBBP activator protein 118 0.610 0.731 1.00 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.100 None 0 1