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: 5376
Gene Symbol: PMP22
PMP22
Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.100 None 0 0
Entrez Id: 54344
Gene Symbol: DPM3
DPM3
Q9P2X0 dolichyl-phosphate mannosyltransferase subunit 3, regulatory 32 0.839 0.308 0.23 0.100 None 0 0
Entrez Id: 54681
Gene Symbol: P4HTM
P4HTM
Q9NXG6 prolyl 4-hydroxylase, transmembrane 59 0.666 0.500 3.9E-09 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.100 None 0 0
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
Q9NVS9 pyridoxamine 5'-phosphate oxidase Enzyme 60 0.659 0.500 1.1E-08 0.100 None 0 0
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B
Q00005 protein phosphatase 2 regulatory subunit Bbeta Enzyme 86 0.601 0.577 0.98 0.100 None 0 0
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
Q69YN2 CWF19 like cell cycle control factor 1 51 0.691 0.346 1.4E-15 0.100 None 0 0
Entrez Id: 6611
Gene Symbol: SMS
SMS
P52788 spermine synthase 263 0.491 0.846 0.97 0.100 None 0 0
Entrez Id: 6664
Gene Symbol: SOX11
SOX11
P35716 SRY-box transcription factor 11 Transcription factor 246 0.494 0.808 0.86 0.100 None 0 1
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.100 None 0 0
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA
O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 113 0.579 0.615 0.42 0.100 None 0 0
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
P53597 succinate-CoA ligase GDP/ADP-forming subunit alpha 47 0.666 0.423 4.8E-04 0.100 None 0 0
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 145 0.584 0.577 1.00 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
O43426 synaptojanin 1 Enzyme 128 0.576 0.577 0.43 0.100 None 0 0
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP
O60318 minichromosome maintenance complex component 3 associated protein 58 0.647 0.654 5.2E-09 0.100 None 0 0
Entrez Id: 8890
Gene Symbol: EIF2B4
EIF2B4
Q9UI10 eukaryotic translation initiation factor 2B subunit delta 63 0.659 0.538 0.96 0.100 None 0 0
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
Q9NR50 eukaryotic translation initiation factor 2B subunit gamma 36 0.729 0.346 0.57 0.100 None 0 0
Entrez Id: 8892
Gene Symbol: EIF2B2
EIF2B2
P49770 eukaryotic translation initiation factor 2B subunit beta 72 0.647 0.538 2.1E-10 0.100 None 0 0
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
Q13144 eukaryotic translation initiation factor 2B subunit epsilon 84 0.615 0.769 6.4E-02 0.100 None 0 0
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 111 0.590 0.577 1.00 0.100 None 0 0
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 143 0.568 0.692 1.00 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 205 0.527 0.769 1.00 0.100 None 0 0
Entrez Id: 9230
Gene Symbol: RAB11B
RAB11B
Q15907 RAB11B, member RAS oncogene family 55 0.691 0.538 0.44 0.100 None 0 0