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: 6329
Gene Symbol: SCN4A
SCN4A
P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 202 0.554 0.731 1.3E-02 0.100 None 1.000 2 2 2004 2008
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
Q14004 cyclin dependent kinase 13 Kinase 141 0.606 0.692 0.91 0.100 None 1.000 1 1 2017 2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
Q9C0F0 ASXL transcriptional regulator 3 149 0.590 0.577 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 6608
Gene Symbol: SMO
SMO
Q99835 smoothened, frizzled class receptor G-protein coupled receptor 215 0.489 0.731 4.3E-07 0.100 None 0 1
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.100 None 0 2
Entrez Id: 6786
Gene Symbol: STIM1
STIM1
Q13586 stromal interaction molecule 1 247 0.501 0.808 0.78 0.100 None 0 1
Entrez Id: 6909
Gene Symbol: TBX2
TBX2
Q13207 T-box transcription factor 2 Transcription factor 152 0.544 0.769 0.99 0.100 None 0 1
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 0 1
Entrez Id: 7874
Gene Symbol: USP7
USP7
Q93009 ubiquitin specific peptidase 7 Enzyme 153 0.538 0.808 1.00 0.100 None 0 1
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
Q7L5A8 fatty acid 2-hydroxylase Enzyme 131 0.573 0.654 0.15 0.100 None 0 1
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 2
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
Q9BZR9 tripartite motif containing 8 121 0.588 0.731 0.99 0.100 None 0 1
Entrez Id: 8726
Gene Symbol: EED
EED
O75530 embryonic ectoderm development 123 0.588 0.615 1.00 0.100 None 0 1
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 116 0.610 0.577 1.4E-06 0.100 None 0 1
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11
Q15643 thyroid hormone receptor interactor 11 148 0.595 0.654 1.7E-12 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: 64207
Gene Symbol: IRF2BPL
IRF2BPL
Q9H1B7 interferon regulatory factor 2 binding protein like 120 0.631 0.462 0.84 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: 166378
Gene Symbol: SPATA5
SPATA5
Q8NB90 spermatogenesis associated 5 75 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 182
Gene Symbol: JAG1
JAG1
P78504 jagged canonical Notch ligand 1 420 0.429 0.808 1.00 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 0 1
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: 3190
Gene Symbol: HNRNPK
HNRNPK
P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 185 0.539 0.846 1.00 0.100 None 0 1
Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
Q00872 myosin binding protein C1 51 0.666 0.462 4.8E-05 0.100 None 0 1
Entrez Id: 51322
Gene Symbol: WAC
WAC
Q9BTA9 WW domain containing adaptor with coiled-coil 68 0.686 0.615 1.00 0.100 None 0 1