Source: ALL
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: 5443
Gene Symbol: POMC
POMC 		P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.300 None 1.000 1 0 1984 1984
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.300 None 1.000 1 0 2007 2007
Entrez Id: 50715
Gene Symbol: EJM2
EJM2 		epilepsy, juvenile myoclonic 2 14 0.751 0.192 0.010 None < 0.001 1 0 2008 2008
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		P04080 cystatin B Enzyme modulator 155 0.530 0.692 6.6E-03 0.010 None 1.000 1 0 2008 2008
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.010 None < 0.001 1 0 2008 2008
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: 7957
Gene Symbol: EPM2A
EPM2A 		O95278 EPM2A glucan phosphatase, laforin 87 0.608 0.577 8.7E-06 0.010 None 1.000 1 0 2008 2008
Entrez Id: 3786
Gene Symbol: KCNQ3
KCNQ3 		O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 84 0.604 0.462 0.80 0.020 None 1.000 2 0 2006 2009
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.010 None < 0.001 1 0 2009 2009
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.010 None 1.000 1 0 2009 2009
Entrez Id: 146
Gene Symbol: ADRA1D
ADRA1D 		P25100 adrenoceptor alpha 1D G-protein coupled receptor 48 0.636 0.731 4.0E-05 0.030 None 1.000 3 0 2004 2010
Entrez Id: 2563
Gene Symbol: GABRD
GABRD 		O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 154 0.558 0.692 0.99 0.010 None 1.000 1 0 2010 2010
Entrez Id: 146712
Gene Symbol: B3GNTL1
B3GNTL1 		Q67FW5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 Enzyme 12 0.760 0.346 4.1E-28 0.010 None 1.000 1 0 2012 2012
Entrez Id: 10678
Gene Symbol: B3GNT2
B3GNT2 		Q9NY97 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 Enzyme 20 0.705 0.500 0.89 0.010 None 1.000 1 1 2012 2012
Entrez Id: 23270
Gene Symbol: TSPYL4
TSPYL4 		Q9UJ04 TSPY like 4 Enzyme modulator 4 0.861 0.115 1.2E-05 0.010 None 1.000 1 0 2012 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.020 None 1.000 2 0 2009 2013
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		O14647 chromodomain helicase DNA binding protein 2 99 0.585 0.577 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2044
Gene Symbol: EPHA5
EPHA5 		P54756 EPH receptor A5 Kinase 61 0.626 0.615 7.3E-05 0.010 None 1.000 1 0 2013 2013
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		Q7Z6L0 proline rich transmembrane protein 2 353 0.448 0.808 0.58 0.010 None 1.000 1 0 2014 2014
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1 		P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 141 0.551 0.769 1.4E-22 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2597
Gene Symbol: GAPDH
GAPDH 		P04406 glyceraldehyde-3-phosphate dehydrogenase Enzyme 305 0.447 0.808 0.11 0.010 None 1.000 1 0 2014 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 175 0.537 0.654 1.00 0.030 None 1.000 3 0 2006 2015
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		Q9NQX3 gephyrin 104 0.608 0.538 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6332
Gene Symbol: SCN7A
SCN7A 		Q01118 sodium voltage-gated channel alpha subunit 7 Ion channel 78 0.585 0.692 2.2E-17 0.010 None 1.000 1 0 2015 2015