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: 19
Gene Symbol: ABCA1
ABCA1
O95477 ATP binding cassette subfamily A member 1 Transporter 291 0.467 0.846 1.5E-13 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
P33527 ATP binding cassette subfamily C member 1 Transporter 333 0.445 0.808 1.2E-03 0.010 None 1.000 1 1 2019 2019
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
P51648 aldehyde dehydrogenase 3 family member A2 78 0.619 0.769 9.4E-06 0.300 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX
Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.300 None 1.000 1 0 2001 2001
Entrez Id: 472
Gene Symbol: ATM
ATM
Q13315 ATM serine/threonine kinase Kinase 684 0.374 0.885 5.6E-47 0.300 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.300 strong 1.000 1 0 2010 2010
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.020 None 1.000 2 0 2000 2016
Entrez Id: 8896
Gene Symbol: BUD31
BUD31
P41223 BUD31 homolog Transcription factor 26 0.711 0.500 0.23 0.010 None 1.000 1 0 1999 1999
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4
O00305 calcium voltage-gated channel auxiliary subunit beta 4 Ion channel 54 0.653 0.231 3.1E-02 0.300 None 0 0
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
P13500 C-C motif chemokine ligand 2 Signaling 1157 0.321 0.962 0.61 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1254
Gene Symbol: CMTX3
CMTX3
Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) 8 0.821 0.154 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1270
Gene Symbol: CNTF
CNTF
P26441 ciliary neurotrophic factor 114 0.561 0.615 2.3E-05 0.010 None 1.000 1 0 2009 2009
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
P78357 contactin associated protein 1 166 0.554 0.577 3.4E-05 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A
Q8NI60 coenzyme Q8A Kinase 64 0.674 0.385 9.3E-11 0.300 None 0 0
Entrez Id: 1435
Gene Symbol: CSF1
CSF1
P09603 colony stimulating factor 1 259 0.473 0.808 1.00 0.010 None 1.000 1 0 2012 2012
Entrez Id: 1621
Gene Symbol: DBH
DBH
P09172 dopamine beta-hydroxylase 202 0.511 0.846 3.3E-10 0.010 None 1.000 1 0 2015 2015
Entrez Id: 10540
Gene Symbol: DCTN2
DCTN2
Q13561 dynactin subunit 2 Cellular structure 8 0.805 0.154 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 3300
Gene Symbol: DNAJB2
DNAJB2
P25686 DnaJ heat shock protein family (Hsp40) member B2 25 0.743 0.192 5.4E-05 0.320 strong 1.000 2 0 2014 2017
Entrez Id: 667
Gene Symbol: DST
DST
Q03001 dystonin Cellular structure 147 0.552 0.846 1.00 0.010 None 1.000 1 0 2011 2011
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
P11161 early growth response 2 Nucleic acid binding 133 0.547 0.769 0.50 0.040 None 1.000 4 0 1999 2018
Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5
Q9UBX5 fibulin 5 Calcium-binding protein 150 0.546 0.692 1.00 0.010 None 1.000 1 0 2011 2011
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
Q92915 fibroblast growth factor 14 Signaling 90 0.619 0.692 0.91 0.300 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
Q92562 FIG4 phosphoinositide 5-phosphatase 223 0.551 0.731 2.3E-34 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2395
Gene Symbol: FXN
FXN
Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.300 None 0 0
Entrez Id: 8139
Gene Symbol: GAN
GAN
Q9H2C0 gigaxonin 71 0.674 0.500 2.5E-02 0.020 None 1.000 2 0 2012 2014