Source: BEFREE ×
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 85 0.522 0.692 1.00 0.500 None 0.967 28 2 2004 2019
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 76 0.516 0.654 0.91 0.500 None 1.000 19 1 2002 2019
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 66 0.532 0.692 1.00 0.490 None 1.000 9 0 2010 2019
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		P49815 TSC complex subunit 2 Enzyme modulator 276 0.439 0.808 1.00 0.470 None 1.000 7 0 2001 2014
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1 		Q13813 spectrin alpha, non-erythrocytic 1 59 0.601 0.615 1.00 0.460 None 1.000 6 0 2008 2017
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 101 0.518 0.731 1.00 0.460 None 1.000 6 3 2013 2019
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 162 0.510 0.692 1.00 0.420 None 1.000 2 0 2014 2017
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3 		Q11203 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 38 0.606 0.654 2.6E-03 0.420 None 1.000 2 0 2013 2018
Entrez Id: 150094
Gene Symbol: SIK1
SIK1 		A0A0B4J2F2 P57059 salt inducible kinase 1 Kinase 72 0.544 0.731 0.94 0.410 None 1.000 1 0 2015 2015
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		Q9NQ66 phospholipase C beta 1 Enzyme 58 0.595 0.654 0.98 0.410 None 1.000 1 0 2010 2012
Entrez Id: 10695
Gene Symbol: CNPY3
CNPY3 		Q9BT09 canopy FGF signaling regulator 3 3 0.805 0.269 0.40 0.410 None 1.000 1 0 2018 2018
Entrez Id: 221692
Gene Symbol: PHACTR1
PHACTR1 		Q9C0D0 phosphatase and actin regulator 1 Enzyme modulator 27 0.663 0.423 0.64 0.410 None 1.000 1 0 2018 2018
Entrez Id: 5443
Gene Symbol: POMC
POMC 		P01189 proopiomelanocortin 665 0.356 0.846 1.2E-04 0.400 None 1.000 29 0 1980 2020
Entrez Id: 9863
Gene Symbol: MAGI2
MAGI2 		Q86UL8 membrane associated guanylate kinase, WW and PDZ domain containing 2 72 0.579 0.654 1.00 0.340 None 1.000 4 0 2008 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		Q92574 TSC complex subunit 1 248 0.440 0.808 1.00 0.330 None 1.000 2 0 2001 2014
Entrez Id: 1392
Gene Symbol: CRH
CRH 		P06850 corticotropin releasing hormone Signaling 303 0.439 0.808 0.72 0.320 None 1.000 2 0 2001 2017
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		Q9Y484 WD repeat domain 45 36 0.647 0.423 0.99 0.320 None 1.000 2 0 2016 2017
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4 		P51659 hydroxysteroid 17-beta dehydrogenase 4 48 0.546 0.654 2.4E-10 0.310 None 1.000 1 0 2007 2007
Entrez Id: 18
Gene Symbol: ABAT
ABAT 		P80404 4-aminobutyrate aminotransferase Enzyme 30 0.628 0.538 6.3E-03 0.210 None 1.000 1 0 2014 2017
Entrez Id: 4535
Gene Symbol: ND1
ND1 		P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 52 0.522 0.769 0.120 None 1.000 2 0 2013 2013
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		P78381 solute carrier family 35 member A2 Transporter 87 0.525 0.808 0.72 0.110 None 1.000 1 0 2018 2018
Entrez Id: 8573
Gene Symbol: CASK
CASK 		O14936 calcium/calmodulin dependent serine protein kinase Kinase 59 0.538 0.808 1.00 0.110 None 1.000 1 0 2018 2018
Entrez Id: 79868
Gene Symbol: ALG13
ALG13 		Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 9 0.631 0.577 1.00 0.110 None 1.000 1 1 2016 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 89 0.537 0.654 1.00 0.030 None 1.000 3 2 2016 2018
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 324 0.414 0.846 0.89 0.030 None 0.667 3 0 2006 2014