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: 11284
Gene Symbol: PNKP
PNKP 		Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.100 None 0 0
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		Q9BZR9 tripartite motif containing 8 121 0.588 0.731 0.99 0.100 None 0 0
Entrez Id: 1394
Gene Symbol: CRHR1
CRHR1 		P34998 corticotropin releasing hormone receptor 1 183 0.517 0.769 3.8E-05 0.030 None 0.667 3 1 2013 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.030 None 0.667 3 0 2006 2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.500 None 0.967 30 6 2004 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC 		P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.400 None 1.000 49 0 1980 2020
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.500 None 1.000 26 1 2002 2019
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.490 None 1.000 10 0 2010 2019
Entrez Id: 6709
Gene Symbol: SPTAN1
SPTAN1 		Q13813 spectrin alpha, non-erythrocytic 1 82 0.601 0.615 1.00 0.460 None 1.000 8 0 2008 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		P49815 TSC complex subunit 2 Enzyme modulator 410 0.439 0.808 1.00 0.470 None 1.000 8 0 2001 2014
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.460 None 1.000 7 3 2013 2019
Entrez Id: 9863
Gene Symbol: MAGI2
MAGI2 		Q86UL8 membrane associated guanylate kinase, WW and PDZ domain containing 2 97 0.579 0.654 1.00 0.340 None 1.000 5 0 2008 2017
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		Q92574 TSC complex subunit 1 391 0.440 0.808 1.00 0.330 None 1.000 4 0 2001 2014
Entrez Id: 1392
Gene Symbol: CRH
CRH 		P06850 corticotropin releasing hormone Signaling 402 0.439 0.808 0.72 0.320 None 1.000 3 0 2001 2017
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 139 0.546 0.615 0.95 0.030 None 1.000 3 0 2014 2019
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 2 2016 2018
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.030 None 1.000 3 0 2011 2015
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 287 0.477 0.808 1.00 0.020 None 1.000 2 1 2003 2014
Entrez Id: 4158
Gene Symbol: MC2R
MC2R 		Q01718 melanocortin 2 receptor G-protein coupled receptor 109 0.582 0.654 3.1E-04 0.020 None 1.000 2 0 2008 2010
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		Q00839 heterogeneous nuclear ribonucleoprotein U 116 0.575 0.654 1.00 0.020 None 1.000 2 0 2014 2018
Entrez Id: 6487
Gene Symbol: ST3GAL3
ST3GAL3 		Q11203 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 95 0.606 0.654 2.6E-03 0.420 None 1.000 2 0 2013 2018
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		P48051 potassium inwardly rectifying channel subfamily J member 6 Ion channel 104 0.615 0.692 0.54 0.020 None 1.000 2 0 2016 2018
Entrez Id: 2908
Gene Symbol: NR3C1
NR3C1 		P04150 nuclear receptor subfamily 3 group C member 1 Nuclear receptor 590 0.393 0.885 0.97 0.020 None 1.000 2 4 2011 2012
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 249 0.510 0.692 1.00 0.420 None 1.000 2 0 2014 2017
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 0.020 None 1.000 2 0 2013 2014