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: 26999
Gene Symbol: CYFIP2
CYFIP2
Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 95 0.633 0.731 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.010 None 1.000 1 0 2019 2019
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1
Q8NC96 NECAP endocytosis associated 1 55 0.691 0.346 0.13 0.110 None 1.000 1 1 2019 2019
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2
Q8TDJ6 Dmx like 2 37 0.695 0.538 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4761
Gene Symbol: NEUROD2
NEUROD2
Q15784 neuronal differentiation 2 Enzyme 86 0.619 0.538 0.94 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4905
Gene Symbol: NSF
NSF
P46459 N-ethylmaleimide sensitive factor, vesicle fusing ATPase Enzyme 40 0.659 0.577 1.8E-02 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7204
Gene Symbol: TRIO
TRIO
O75962 trio Rho guanine nucleotide exchange factor Kinase 143 0.556 0.731 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 116 0.610 0.577 1.4E-06 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB
P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.010 None 1.000 1 0 2019 2019
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
Q07699 sodium voltage-gated channel beta subunit 1 Ion channel 114 0.575 0.538 0.10 0.010 None 1.000 1 0 2019 2019
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1
Q9Y234 lipoyltransferase 1 Enzyme 55 0.674 0.462 3.8E-08 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
Q9NY46 sodium voltage-gated channel alpha subunit 3 Ion channel 88 0.617 0.538 1.00 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
Q53HV7 single-strand-selective monofunctional uracil-DNA glycosylase 1 1034 0.322 0.923 4.5E-04 0.010 None 1.000 1 0 2017 2017
Entrez Id: 51227
Gene Symbol: PIGP
PIGP
P57054 phosphatidylinositol glycan anchor biosynthesis class P 85 0.633 0.462 1.9E-03 0.010 None 1.000 1 0 2017 2017
Entrez Id: 818
Gene Symbol: CAMK2G
CAMK2G
Q13555 calcium/calmodulin dependent protein kinase II gamma Kinase 51 0.670 0.462 1.00 0.300 limited 1.000 1 0 2017 2017
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
Q00839 heterogeneous nuclear ribonucleoprotein U 116 0.575 0.654 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 1.000 4 1 2016 2017
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 1.000 4 1 2016 2017
Entrez Id: 55704
Gene Symbol: CCDC88A
CCDC88A
Q3V6T2 coiled-coil domain containing 88A Enzyme modulator 85 0.610 0.615 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 139 0.546 0.615 0.95 0.010 None 1.000 1 0 2016 2016
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
O60315 zinc finger E-box binding homeobox 2 Transcription factor 292 0.471 0.808 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 9326
Gene Symbol: ZNHIT3
ZNHIT3
Q15649 zinc finger HIT-type containing 3 72 0.666 0.462 5.5E-07 0.010 None 1.000 1 0 2016 2016
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
Q9NZC7 WW domain containing oxidoreductase Enzyme 356 0.453 0.808 1.2E-15 0.060 None 1.000 6 0 2015 2019
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
Q8TAB3 protocadherin 19 93 0.599 0.462 1.00 0.050 None 1.000 5 0 2015 2019