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 0.200 None 1.000 22 2 2004 2019
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		P49815 TSC complex subunit 2 Enzyme modulator 276 0.439 0.808 1.00 0.160 None 1.000 6 0 2001 2014
Entrez Id: 6509
Gene Symbol: SLC1A4
SLC1A4 		P43007 solute carrier family 1 member 4 Transporter 23 0.700 0.385 6.6E-02 0.110 None 1.000 1 0 2016 2016
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: 11152
Gene Symbol: WDR45
WDR45 		Q9Y484 WD repeat domain 45 36 0.647 0.423 0.99 0.110 None 1.000 1 0 2017 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 765 0.343 0.885 1.00 0.110 None 1.000 1 0 2015 2015
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 66 0.532 0.692 1.00 0.110 None 1.000 1 0 2011 2016
Entrez Id: 5443
Gene Symbol: POMC
POMC 		P01189 proopiomelanocortin 665 0.356 0.846 1.2E-04 0.100 None 1.000 18 0 2003 2020
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 76 0.516 0.654 0.91 0.100 None 1.000 14 0 2002 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 101 0.518 0.731 1.00 0.040 None 1.000 4 3 2013 2018
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 0.040 None 1.000 4 0 2008 2015
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 76 0.546 0.615 0.95 0.030 None 1.000 3 0 2014 2019
Entrez Id: 1394
Gene Symbol: CRHR1
CRHR1 		P34998 corticotropin releasing hormone receptor 1 148 0.517 0.769 3.8E-05 0.030 None 0.667 3 1 2013 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 187 0.477 0.808 1.00 0.020 None 1.000 2 1 2003 2014
Entrez Id: 2908
Gene Symbol: NR3C1
NR3C1 		P04150 nuclear receptor subfamily 3 group C member 1 Nuclear receptor 534 0.393 0.885 0.97 0.020 None 1.000 2 4 2011 2012
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		Q00839 heterogeneous nuclear ribonucleoprotein U 69 0.575 0.654 1.00 0.020 None 1.000 2 0 2014 2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		Q92574 TSC complex subunit 1 248 0.440 0.808 1.00 0.020 None 1.000 2 0 2001 2014
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2011 2015
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		P48051 potassium inwardly rectifying channel subfamily J member 6 Ion channel 54 0.615 0.692 0.54 0.020 None 1.000 2 0 2016 2018
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1 		Q13813 spectrin alpha, non-erythrocytic 1 59 0.601 0.615 1.00 0.020 None 1.000 2 0 2011 2012
Entrez Id: 4158
Gene Symbol: MC2R
MC2R 		Q01718 melanocortin 2 receptor G-protein coupled receptor 63 0.582 0.654 3.1E-04 0.020 None 1.000 2 0 2008 2010
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 171 0.504 0.769 1.00 0.020 None 1.000 2 0 2002 2006
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 0.020 None 1.000 2 2 2016 2017
Entrez Id: 1392
Gene Symbol: CRH
CRH 		P06850 corticotropin releasing hormone Signaling 303 0.439 0.808 0.72 0.020 None 1.000 2 0 2015 2017
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		P55316 forkhead box G1 88 0.522 0.692 0.94 0.020 None 1.000 2 0 2011 2014