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: 3785
Gene Symbol: KCNQ2
KCNQ2
O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 175 0.537 0.654 1.00 0.500 None 1.000 40 22 1984 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 287 0.477 0.808 1.00 0.200 None 0.932 59 20 2002 2020
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 58 0.636 0.346 0.100 None 0 20
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.120 None 1.000 3 16 2014 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.430 None 1.000 79 11 2001 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.500 None 0.923 26 11 2000 2019
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
P06865 hexosaminidase subunit alpha Enzyme 79 0.633 0.615 1.3E-11 0.100 None 1.000 5 11 1992 2014
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
O14773 tripeptidyl peptidase 1 Enzyme 151 0.551 0.808 6.3E-07 0.130 None 1.000 7 10 1998 2013
Entrez Id: 5813
Gene Symbol: PURA
PURA
Q00577 purine rich element binding protein A Nucleic acid binding 83 0.644 0.500 0.94 0.100 None 0 9
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.200 None 1.000 13 8 2000 2018
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 0.180 None 1.000 9 8 2014 2019
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
P62873 G protein subunit beta 1 Enzyme 83 0.617 0.731 1.00 0.410 strong 1.000 2 8 2015 2016
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.200 None 0.944 18 7 2004 2019
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.200 None 1.000 15 7 2007 2019
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 141 0.551 0.769 1.4E-22 0.140 None 1.000 11 6 2006 2018
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 174 0.544 0.615 1.00 0.110 None 1.000 2 5 2014 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.700 strong 1.000 22 4 1998 2018
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
P18507 gamma-aminobutyric acid type A receptor subunit gamma2 Ion channel 169 0.548 0.654 0.74 0.100 None 0.909 11 4 2001 2019
Entrez Id: 9681
Gene Symbol: DEPDC5
DEPDC5
O75140 DEP domain containing 5, GATOR1 subcomplex subunit Nucleic acid binding 59 0.631 0.538 0.12 0.150 None 1.000 9 4 2013 2020
Entrez Id: 11019
Gene Symbol: LIAS
LIAS
O43766 lipoic acid synthetase 43 0.695 0.538 2.3E-05 0.130 None 1.000 3 4 2014 2018
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
Q06413 myocyte enhancer factor 2C Transcription factor 206 0.517 0.769 1.7E-02 0.120 None 1.000 3 4 2010 2018
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.100 None 1.000 2 4 2017 2017
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
Q9P0K9 ferric chelate reductase 1 like 60 0.666 0.231 1.5E-03 0.100 None 1.000 1 4 2016 2016
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
Q8N6M0 OTU deubiquitinase 6B Enzyme 76 0.659 0.538 1.3E-07 0.110 None 1.000 1 4 2017 2017
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 198 0.534 0.769 1.00 0.100 None 0 4