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: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 kinase; transferase 170 0.551 0.448 1.00 0.500 0.964 29 1 2003 2018
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
P61764 syntaxin binding protein 1 membrane traffic protein; transporter 120 0.596 0.483 1.00 0.480 1.000 8 0 2010 2014
Entrez Id: 5443
Gene Symbol: POMC
POMC
P01189 proopiomelanocortin 557 0.382 0.862 9.4E-05 0.400 1.000 32 0 1981 2018
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 201 0.541 0.448 0.91 0.400 1.000 23 2 2002 2016
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
P49815 TSC complex subunit 2 enzyme modulator 290 0.463 0.690 1.00 0.370 1.000 8 0 2001 2015
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1
Q13813 spectrin alpha, non-erythrocytic 1 68 0.611 0.552 1.00 0.360 1.000 6 0 2010 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
Q92574 TSC complex subunit 1 457 0.403 0.759 1.00 0.330 1.000 4 0 2001 2015
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
Q99250 sodium voltage-gated channel alpha subunit 2 transporter 101 0.586 0.276 1.00 0.330 0.667 3 2 2014 2016
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
Q05193 dynamin 1 cytoskeletal protein; enzyme modulator; hydrolase 64 0.667 0.345 1.00 0.310 definitive 1.000 10 1 1993 2016
Entrez Id: 1392
Gene Symbol: CRH
CRH
P06850 corticotropin releasing hormone 274 0.456 0.759 0.72 0.310 1.000 2 0 2001 2016
Entrez Id: 150094
Gene Symbol: SIK1
SIK1
P57059 salt inducible kinase 1 kinase; transferase 71 0.636 0.552 0.98 0.310 1.000 1 0 2015 2015
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
P51659 hydroxysteroid 17-beta dehydrogenase 4 151 0.550 0.621 6.7E-09 0.310 1.000 1 0 2007 2007
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
Q13224 glutamate ionotropic receptor NMDA type subunit 2B 132 0.561 0.483 1.00 0.310 1.000 1 0 2014 2014
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1
Q9NQ66 phospholipase C beta 1 calcium-binding protein; enzyme modulator; hydrolase; signaling molecule 69 0.652 0.448 0.97 0.310 1.000 1 0 2010 2010
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3
Q11203 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 38 0.701 0.345 2.0E-03 0.310 1.000 1 0 2013 2013
Entrez Id: 51733
Gene Symbol: UPB1
UPB1
Q9UBR1 beta-ureidopropionase 1 hydrolase 22 0.735 0.276 4.9E-12 0.300 1 0 2009 2009
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 transporter 168 0.557 0.552 1.00 0.300 1 0 2014 2014
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2
Q16620 neurotrophic receptor tyrosine kinase 2 165 0.514 0.586 1.00 0.300 0 0
Entrez Id: 60558
Gene Symbol: GUF1
GUF1
Q8N442 GUF1 homolog, GTPase enzyme modulator; hydrolase; nucleic acid binding 25 0.762 0.138 2.5E-17 0.300 0 0
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
P37287 phosphatidylinositol glycan anchor biosynthesis class A 149 0.590 0.552 0.96 0.300 0 0
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
O43526 potassium voltage-gated channel subfamily Q member 2 127 0.557 0.483 1.00 0.110 < 0.001 1 1 2016 2016
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
Q9H9B1 euchromatic histone lysine methyltransferase 1 132 0.579 0.586 1.00 0.100 0 0
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
P51531 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 nucleic acid binding 147 0.559 0.690 1.00 0.100 0 0
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 194 0.577 0.655 0.100 0 0
Entrez Id: 4535
Gene Symbol: ND1
ND1
P03886 NADH dehydrogenase, subunit 1 (complex I) oxidoreductase 148 0.557 0.655 0.020 1.000 2 0 2014 2014