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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 2
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
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: 23036
Gene Symbol: ZNF292
ZNF292
O60281 zinc finger protein 292 Enzyme 53 0.695 0.423 1.00 0.100 None 0 1
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.100 None 1.000 2 2 2017 2017
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A
O96019 actin like 6A Cellular structure 46 0.678 0.346 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: 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: 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: 7703
Gene Symbol: PCGF2
PCGF2
P35227 polycomb group ring finger 2 114 0.579 0.615 0.86 0.100 None 0 1
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: 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: 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: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.100 None 0 1
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: 3020
Gene Symbol: H3-3A
H3-3A
P84243 H3.3 histone A 134 0.559 0.692 0.12 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: 4853
Gene Symbol: NOTCH2
NOTCH2
Q04721 notch receptor 2 384 0.441 0.808 1.00 0.100 None 0 1
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: 6575
Gene Symbol: SLC20A2
SLC20A2
Q08357 solute carrier family 20 member 2 Transporter 104 0.638 0.577 0.97 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: 9772
Gene Symbol: TMEM94
TMEM94
Q12767 transmembrane protein 94 103 0.628 0.654 2.8E-14 0.100 None 0 2
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: 2904
Gene Symbol: GRIN2B
GRIN2B
Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 249 0.510 0.692 1.00 0.100 None 0 1
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