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: 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 3
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.110 None 1.000 1 2 2011 2011
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
Q6ICL3 transport and golgi organization 2 homolog 83 0.666 0.615 1.5E-04 0.100 None 1.000 1 1 2016 2016
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 1
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
P07333 colony stimulating factor 1 receptor Kinase 356 0.448 0.808 0.13 0.100 None 0 1
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.100 None 0 1
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
P17480 upstream binding transcription factor 44 0.705 0.462 1.00 0.100 None 0 1
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
Q99797 mitochondrial intermediate peptidase Enzyme 69 0.666 0.615 1.6E-15 0.100 None 0 1
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 175 0.551 0.885 2.8E-15 0.100 None 0 1
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 1
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
P38606 ATPase H+ transporting V1 subunit A Transporter 147 0.579 0.615 0.87 0.100 None 0 1
Entrez Id: 51102
Gene Symbol: MECR
MECR
Q9BV79 mitochondrial trans-2-enoyl-CoA reductase 29 0.736 0.385 2.2E-05 0.100 None 0 1
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.140 None 1.000 4 0 2007 2019
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.020 None 1.000 2 0 2005 2013
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
Q13620 cullin 4B Enzyme 162 0.556 0.769 1.00 0.120 None 1.000 2 0 2010 2019
Entrez Id: 23064
Gene Symbol: SETX
SETX
Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.110 None 1.000 1 0 2004 2004
Entrez Id: 869
Gene Symbol: CBLN1
CBLN1
P23435 cerebellin 1 precursor 5 1.000 0.038 0.18 0.010 None 1.000 1 0 2018 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 0.110 None 1.000 1 0 2011 2011
Entrez Id: 56681
Gene Symbol: SAR1A
SAR1A
Q9NR31 secretion associated Ras related GTPase 1A 25 0.743 0.538 0.37 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7200
Gene Symbol: TRH
TRH
P20396 thyrotropin releasing hormone 230 0.519 0.846 8.9E-04 0.010 None 1.000 1 0 2008 2008
Entrez Id: 2395
Gene Symbol: FXN
FXN
Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.110 None 1.000 1 0 2011 2011
Entrez Id: 2571
Gene Symbol: GAD1
GAD1
Q99259 glutamate decarboxylase 1 Enzyme 245 0.486 0.885 4.6E-02 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
O15265 ataxin 7 162 0.581 0.654 0.96 0.300 None 1.000 1 0 2014 2014
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1
Q96KG9 SCY1 like pseudokinase 1 Kinase 104 0.582 0.769 2.5E-08 0.110 None 1.000 1 0 2015 2015