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: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 0
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1
P10809 heat shock protein family D (Hsp60) member 1 398 0.432 0.808 0.99 0.100 None 0 0
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 0 0
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
Q7Z6L0 proline rich transmembrane protein 2 353 0.448 0.808 0.58 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.100 None 0 0
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
P49959 MRE11 homolog, double strand break repair nuclease 171 0.527 0.808 1.3E-12 0.100 None 0 1
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
P07384 calpain 1 Enzyme 165 0.539 0.808 5.9E-10 0.100 None 0 0
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.100 None 0 0
Entrez Id: 10273
Gene Symbol: STUB1
STUB1
Q9UNE7 STIP1 homology and U-box containing protein 1 155 0.544 0.692 1.9E-02 0.100 None 0 0
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 206 0.551 0.769 8.1E-04 0.100 None 0 0
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13
Q9P0J0 NADH:ubiquinone oxidoreductase subunit A13 Enzyme 131 0.556 0.692 3.8E-06 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 0 0
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
O75881 cytochrome P450 family 7 subfamily B member 1 Enzyme 141 0.563 0.692 3.3E-06 0.100 None 0 0
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
Q12768 WASH complex subunit 5 Transporter 129 0.572 0.615 8.3E-18 0.100 None 0 0
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
Q7L5A8 fatty acid 2-hydroxylase Enzyme 131 0.573 0.654 0.15 0.100 None 0 0
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
P37287 phosphatidylinositol glycan anchor biosynthesis class A 140 0.575 0.654 0.96 0.100 None 0 0
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.100 None 1.000 1 3 2009 2009
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
Q9UBP0 spastin Cellular structure 138 0.579 0.577 1.00 0.100 None 0 1
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
P51793 chloride voltage-gated channel 4 Ion channel 114 0.587 0.654 1.00 0.100 None 0 0
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
Q12840 kinesin family member 5A Cellular structure 112 0.593 0.731 1.00 0.100 None 0 0
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
Q8WXF7 atlastin GTPase 1 Enzyme modulator 112 0.593 0.654 0.98 0.100 None 0 0
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.100 None 0 0
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 136 0.593 0.654 1.00 0.100 None 0 0