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: 5663
Gene Symbol: PSEN1
PSEN1
P49768 presenilin 1 Enzyme 369 0.469 0.846 0.97 0.160 None 1.000 6 5 1997 2019
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
O14656 torsin family 1 member A Chaperone 115 0.566 0.731 5.1E-04 0.020 None 1.000 2 2 2005 2011
Entrez Id: 351
Gene Symbol: APP
APP
P05067 amyloid beta precursor protein Enzyme modulator 485 0.422 0.846 4.7E-02 0.120 None 1.000 2 2 1993 2016
Entrez Id: 10588
Gene Symbol: MTHFS
MTHFS
P49914 methenyltetrahydrofolate synthetase Enzyme 48 0.678 0.500 2.6E-04 0.100 None 0 2
Entrez Id: 100528021
Gene Symbol: ST20-MTHFS
ST20-MTHFS
ST20-MTHFS readthrough 18 0.805 0.115 7.6E-03 0.100 None 0 2
Entrez Id: 7507
Gene Symbol: XPA
XPA
P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 209 0.520 0.846 7.9E-05 0.100 None 0 2
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.120 None 1.000 42 1 2001 2018
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.130 None 1.000 3 1 1994 2018
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1
P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 43 0.711 0.154 0.99 0.120 None 1.000 2 1 2018 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.120 None 1.000 2 1 2013 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
P10636 microtubule associated protein tau 469 0.446 0.923 6.0E-03 0.010 None 1.000 1 1 2003 2003
Entrez Id: 339453
Gene Symbol: TMEM240
TMEM240
Q5SV17 transmembrane protein 240 40 0.760 0.231 0.23 0.010 None 1.000 1 1 2019 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 0.110 None 1.000 1 1 2017 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.110 None 1.000 1 1 2018 2018
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.110 None 1.000 1 1 2015 2015
Entrez Id: 23064
Gene Symbol: SETX
SETX
Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.010 None 1.000 1 1 2015 2015
Entrez Id: 9570
Gene Symbol: GOSR2
GOSR2
O14653 golgi SNAP receptor complex member 2 Transporter 55 0.653 0.423 4.7E-07 0.110 None 1.000 1 1 2014 2014
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 1 1 2017 2017
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Q9NRG9 aladin WD repeat nucleoporin 92 0.601 0.654 2.4E-13 0.010 None 1.000 1 1 2004 2004
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2
Q14108 scavenger receptor class B member 2 Receptor 103 0.606 0.615 8.9E-05 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
Q9H1B7 interferon regulatory factor 2 binding protein like 120 0.631 0.462 0.84 0.100 None 0 1
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: 2776
Gene Symbol: GNAQ
GNAQ
P50148 G protein subunit alpha q Enzyme modulator 219 0.516 0.808 0.98 0.100 None 0 1
Entrez Id: 7874
Gene Symbol: USP7
USP7
Q93009 ubiquitin specific peptidase 7 Enzyme 153 0.538 0.808 1.00 0.100 None 0 1
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
Q9UGU0 transcription factor 20 Transcription factor 78 0.644 0.423 1.00 0.100 None 0 1