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: 6812
Gene Symbol: STXBP1
STXBP1
P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.110 None 1.000 28 6 1998 2016
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
P21579 synaptotagmin 1 Transporter 460 0.412 0.846 0.60 0.100 None 0 5
Entrez Id: 23064
Gene Symbol: SETX
SETX
Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.100 None 1.000 4 4 2004 2009
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.200 None 1.000 33 3 1991 2019
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 174 0.544 0.615 1.00 0.160 None 1.000 31 3 1988 2018
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 1368 0.303 0.885 1.00 0.100 None 1.000 22 3 1991 2017
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 1.000 22 3 1989 2017
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
Q9UBP0 spastin Cellular structure 138 0.579 0.577 1.00 0.110 None 1.000 21 3 1999 2016
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
P09471 G protein subunit alpha o1 Enzyme modulator 188 0.523 0.808 0.99 0.500 definitive 1.000 20 3 1997 2019
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
P02462 collagen type IV alpha 1 chain 277 0.484 0.731 1.00 0.100 None 1.000 18 3 1984 2015
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.110 None 1.000 17 3 1989 2019
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 1.000 15 3 2011 2018
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 185 0.534 0.846 1.00 0.100 None 1.000 14 3 2001 2017
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.100 None 1.000 13 3 2012 2017
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
small nucleolar RNA host gene 14 44 0.656 0.577 0.100 None 1.000 12 3 1990 2015
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
Q05086 ubiquitin protein ligase E3A 155 0.561 0.692 1.00 0.100 None 1.000 12 3 1990 2015
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 1.000 12 3 1997 2017
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
Q9UMN6 lysine methyltransferase 2B 193 0.529 0.808 1.00 0.100 None 1.000 9 3 1999 2017
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
O00754 mannosidase alpha class 2B member 1 66 0.674 0.462 4.8E-22 0.100 None 1.000 6 3 1981 2015
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 172 0.534 0.808 4.7E-13 0.100 None 1.000 5 3 2001 2009
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.150 None 0.967 30 2 1995 2018
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 0.110 None 1.000 29 2 1980 2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 111 0.612 0.577 0.91 0.100 None 1.000 28 2 1991 2017
Entrez Id: 6651
Gene Symbol: SON
SON
P18583 SON DNA binding protein 154 0.565 0.769 1.00 0.100 None 1.000 28 2 1988 2016
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
Q99592 zinc finger and BTB domain containing 18 Transcription factor 57 0.666 0.500 1.00 0.100 None 1.000 26 2 1997 2017