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: 10075
Gene Symbol: HUWE1
HUWE1
Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 198 0.534 0.769 1.00 0.110 None 1.000 1 11 2016 2016
Entrez Id: 285175
Gene Symbol: UNC80
UNC80
Q8N2C7 unc-80 homolog, NALCN channel complex subunit 111 0.626 0.462 5.2E-02 0.100 None 0 4
Entrez Id: 81857
Gene Symbol: MED25
MED25
Q71SY5 mediator complex subunit 25 Transcription factor 114 0.582 0.654 8.4E-07 0.110 None 1.000 1 3 2015 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.200 None 1.000 15 2 2000 2018
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 174 0.547 0.769 1.00 0.010 None 1.000 1 2 2012 2012
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
P54802 N-acetyl-alpha-glucosaminidase 152 0.546 0.769 1.4E-08 0.110 None 1.000 1 2 2011 2011
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 2
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI
Q9GZN7 rogdi atypical leucine zipper 61 0.663 0.462 2.6E-09 0.100 None 0 2
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
Q13608 peroxisomal biogenesis factor 6 232 0.547 0.731 6.3E-06 0.100 None 0 2
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 65 0.674 0.538 5.5E-15 0.100 None 0 2
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
Q06413 myocyte enhancer factor 2C Transcription factor 206 0.517 0.769 1.7E-02 0.180 None 1.000 9 1 2009 2016
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
P15884 transcription factor 4 Transcription factor 378 0.464 0.846 1.00 0.180 None 1.000 8 1 2007 2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.070 None 1.000 7 1 2003 2019
Entrez Id: 8573
Gene Symbol: CASK
CASK
O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.050 None 1.000 5 1 2008 2018
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.140 None 1.000 4 1 2005 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 1368 0.303 0.885 1.00 0.110 None 1.000 4 1 1989 2019
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.130 None 1.000 3 1 2000 2012
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
Q5JU85 IQ motif and Sec7 domain ArfGEF 2 155 0.573 0.577 1.00 0.130 None 1.000 3 1 2014 2016
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
Q8IZF0 sodium leak channel, non-selective Ion channel 143 0.587 0.615 8.5E-14 0.120 None 1.000 3 1 2015 2019
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70
Q9BUB7 transmembrane protein 70 83 0.636 0.654 2.9E-02 0.100 None 1.000 3 1 2008 2014
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
P49815 TSC complex subunit 2 Enzyme modulator 410 0.439 0.808 1.00 0.120 None 0.500 2 1 1999 2018
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
Q9H334 forkhead box P1 317 0.460 0.808 1.00 0.120 None 1.000 2 1 2018 2019
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.110 None 1.000 2 1 2008 2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 150 0.561 0.692 0.98 0.120 None 1.000 2 1 2016 2017
Entrez Id: 57688
Gene Symbol: ZSWIM6
ZSWIM6
Q9HCJ5 zinc finger SWIM-type containing 6 95 0.626 0.577 1.00 0.120 None 1.000 2 1 2017 2017