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: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.100 None 0 0
Entrez Id: 4556
Gene Symbol: TRNE
TRNE
tRNA 83 0.647 0.692 0.100 None 0 0
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
Q8NF91 spectrin repeat containing nuclear envelope protein 1 237 0.511 0.846 3.2E-52 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 0.110 None 1.000 1 0 2016 2016
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
O76024 wolframin ER transmembrane glycoprotein 185 0.528 0.846 1.6E-38 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 0.010 None 1.000 1 0 2016 2016
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.100 None 0 0
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
Q68DK2 zinc finger FYVE-type containing 26 79 0.636 0.615 4.7E-23 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.100 None 0 0
Entrez Id: 4311
Gene Symbol: MME
MME
P08473 membrane metalloendopeptidase Enzyme 470 0.407 0.808 1.5E-18 0.100 None 0 0
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
Q9NUW8 tyrosyl-DNA phosphodiesterase 1 Enzyme 70 0.612 0.538 1.3E-17 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.020 None 1.000 2 0 2012 2014
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
Q8TF17 SH3 domain and tetratricopeptide repeats 2 55 0.666 0.385 8.3E-16 0.100 None 0 0
Entrez Id: 4141
Gene Symbol: MARS1
MARS1
P56192 methionyl-tRNA synthetase 1 66 0.638 0.654 2.1E-15 0.100 None 0 0
Entrez Id: 51008
Gene Symbol: ASCC1
ASCC1
Q8N9N2 activating signal cointegrator 1 complex subunit 1 209 0.495 0.846 2.6E-14 0.100 None 0 0
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
O95477 ATP binding cassette subfamily A member 1 Transporter 291 0.467 0.846 1.5E-13 0.100 None 0 0
Entrez Id: 10367
Gene Symbol: MICU1
MICU1
Q9BPX6 mitochondrial calcium uptake 1 Calcium-binding protein 76 0.638 0.654 1.9E-13 0.100 None 0 0
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6
Q8IY17 patatin like phospholipase domain containing 6 Enzyme 167 0.533 0.769 1.9E-13 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.100 None 0 0
Entrez Id: 2632
Gene Symbol: GBE1
GBE1
Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 102 0.612 0.654 1.1E-12 0.100 None 0 0
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
P12036 neurofilament heavy 120 0.588 0.769 2.7E-12 0.010 None 1.000 1 0 2017 2017
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.100 None 0 2
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
P55084 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta Enzyme 101 0.619 0.692 1.5E-11 0.010 None 1.000 1 0 2019 2019