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: 2903
Gene Symbol: GRIN2A
GRIN2A
Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 212 0.522 0.808 1.00 0.310 None 1.000 1 0 2013 2013
Entrez Id: 84879
Gene Symbol: MFSD2A
MFSD2A
Q8NA29 major facilitator superfamily domain containing 2A Transporter 81 0.626 0.538 1.1E-02 0.300 None 1.000 1 0 2015 2015
Entrez Id: 7274
Gene Symbol: TTPA
TTPA
P49638 alpha tocopherol transfer protein Transporter 147 0.612 0.577 1.4E-03 0.300 None 1.000 1 0 2000 2000
Entrez Id: 3098
Gene Symbol: HK1
HK1
P19367 hexokinase 1 Kinase 161 0.542 0.731 0.91 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.130 None 1.000 3 1 2012 2013
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.120 None 1.000 2 0 2014 2014
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP
Q6ZRS2 Snf2 related CREBBP activator protein 118 0.610 0.731 1.00 0.110 None 1.000 1 0 2015 2015
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 0.110 None 1.000 1 0 2013 2013
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2
O15409 forkhead box P2 165 0.545 0.808 1.00 0.100 None 1.000 15 0 2002 2019
Entrez Id: 4286
Gene Symbol: MITF
MITF
O75030 melanocyte inducing transcription factor 244 0.499 0.808 0.98 0.100 None 1.000 4 1 2011 2016
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
Q9BY12 S-phase cyclin A associated protein in the ER 56 0.653 0.500 8.8E-03 0.100 None 1.000 1 1 2019 2019
Entrez Id: 4621
Gene Symbol: MYH3
MYH3
P11055 myosin heavy chain 3 160 0.563 0.654 6.7E-21 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 0
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 0 0
Entrez Id: 25953
Gene Symbol: PNKD
PNKD
Q8N490 PNKD metallo-beta-lactamase domain containing 96 0.615 0.615 4.1E-08 0.100 None 0 0
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
Q99519 neuraminidase 1 Enzyme 207 0.513 0.769 7.3E-05 0.100 None 0 0
Entrez Id: 4771
Gene Symbol: NF2
NF2
P35240 neurofibromin 2 312 0.468 0.885 1.00 0.100 None 0 0
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.100 None 0 0
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
O60890 oligophrenin 1 Enzyme modulator 81 0.633 0.538 1.00 0.100 None 0 0
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 141 0.551 0.769 1.4E-22 0.100 None 0 0
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 0 0
Entrez Id: 5075
Gene Symbol: PAX1
PAX1
P15863 paired box 1 89 0.593 0.654 0.70 0.100 None 0 0
Entrez Id: 51057
Gene Symbol: WDPCP
WDPCP
O95876 WD repeat containing planar cell polarity effector 105 0.576 0.769 1.1E-10 0.100 None 0 0
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
Q15067 acyl-CoA oxidase 1 Enzyme 95 0.610 0.731 6.2E-02 0.100 None 0 0
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 176 0.526 0.808 1.3E-12 0.100 None 0 0