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: 9254
Gene Symbol: CACNA2D2
CACNA2D2
Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 78 0.626 0.615 1.00 0.300 None 1.000 1 0 2004 2004
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
P43699 NK2 homeobox 1 Transcription factor 319 0.457 0.808 0.36 0.300 None 0 0
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
Q7Z6L0 proline rich transmembrane protein 2 353 0.448 0.808 0.58 0.200 None 1.000 16 0 1999 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.140 None 1.000 4 0 2013 2019
Entrez Id: 25953
Gene Symbol: PNKD
PNKD
Q8N490 PNKD metallo-beta-lactamase domain containing 96 0.615 0.615 4.1E-08 0.130 None 1.000 3 1 1997 2015
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 205 0.518 0.846 1.00 0.130 None 1.000 3 0 2017 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
Q9UMN6 lysine methyltransferase 2B 193 0.529 0.808 1.00 0.100 None 0 1
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
Q92915 fibroblast growth factor 14 Signaling 90 0.619 0.692 0.91 0.020 None 1.000 2 0 2003 2009
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 173 0.558 0.615 2.3E-21 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
P36021 solute carrier family 16 member 2 Transporter 108 0.592 0.577 0.99 0.010 None 1.000 1 0 2005 2005
Entrez Id: 6872
Gene Symbol: TAF1
TAF1
P21675 TATA-box binding protein associated factor 1 Kinase 139 0.581 0.808 1.00 0.010 None 1.000 1 0 2011 2011
Entrez Id: 8181
Gene Symbol: BFIS1
BFIS1
benign familial infantile convulsions 7 0.805 0.115 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
P30084 enoyl-CoA hydratase, short chain 1 Enzyme 93 0.601 0.654 8.8E-04 0.010 None 1.000 1 0 2016 2016