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: 84059
Gene Symbol: ADGRV1
ADGRV1
Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 125 0.572 0.731 3.2E-39 0.020 None 1.000 2 0 2011 2018
Entrez Id: 410
Gene Symbol: ARSA
ARSA
P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.010 None 1.000 1 0 1994 1994
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.040 None 1.000 4 1 2002 2009
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 176 0.526 0.808 1.3E-12 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
P54259 atrophin 1 499 0.409 0.885 1.00 0.010 None 1.000 1 0 2004 2004
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
P25440 bromodomain containing 2 Epigenetic regulator 303 0.450 0.808 1.00 0.010 None 1.000 1 0 2006 2006
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.020 None 1.000 2 0 2008 2018
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4
O00305 calcium voltage-gated channel auxiliary subunit beta 4 Ion channel 54 0.653 0.231 3.1E-02 0.010 None 1.000 1 0 2008 2008
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.030 None 1.000 3 0 2006 2011
Entrez Id: 10715
Gene Symbol: CERS1
CERS1
P27544 ceramide synthase 1 49 0.638 0.385 9.7E-02 0.010 None 1.000 1 0 2016 2016
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
O14647 chromodomain helicase DNA binding protein 2 99 0.585 0.577 1.00 0.030 None 1.000 3 0 2015 2018
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
Q96H96 coenzyme Q2, polyprenyltransferase Enzyme 139 0.590 0.731 1.3E-03 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4513
Gene Symbol: COX2
COX2
P00403 cytochrome c oxidase subunit II Enzyme 875 0.352 0.962 0.010 None 1.000 1 0 2005 2005
Entrez Id: 10815
Gene Symbol: CPLX1
CPLX1
O14810 complexin 1 138 0.576 0.654 0.82 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1460
Gene Symbol: CSNK2B
CSNK2B
P67870 casein kinase 2 beta Kinase 34 0.686 0.538 0.92 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
P04080 cystatin B Enzyme modulator 155 0.530 0.692 6.6E-03 0.080 None 1.000 8 0 1994 2019
Entrez Id: 148252
Gene Symbol: DIRAS1
DIRAS1
O95057 DIRAS family GTPase 1 Enzyme modulator 20 0.722 0.231 0.39 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 166 0.554 0.808 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 80258
Gene Symbol: EFHC2
EFHC2
Q5JST6 EF-hand domain containing 2 8 0.792 0.538 1.00 0.010 None 1.000 1 0 2007 2007
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
O95278 EPM2A glucan phosphatase, laforin 87 0.608 0.577 8.7E-06 0.020 None 1.000 2 0 2002 2016
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
P15328 folate receptor alpha 174 0.522 0.885 0.13 0.010 None 1.000 1 0 2010 2010
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2629
Gene Symbol: GBA
GBA
P04062 glucosylceramidase beta 319 0.500 0.808 1.4E-06 0.010 None 1.000 1 0 2005 2005
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1
P23415 glycine receptor alpha 1 Ion channel 75 0.628 0.500 1.6E-04 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2746
Gene Symbol: GLUD1
GLUD1
P00367 glutamate dehydrogenase 1 Enzyme 86 0.584 0.731 7.0E-03 0.010 None 1.000 1 0 2008 2008