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: 26278
Gene Symbol: SACS
SACS
Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.150 None 1.000 5 1 2000 2019
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 0 2011 2011
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
P23763 vesicle associated membrane protein 1 124 0.628 0.538 3.9E-03 0.110 None 1.000 1 0 2012 2012
Entrez Id: 92935
Gene Symbol: MARS2
MARS2
Q96GW9 methionyl-tRNA synthetase 2, mitochondrial Enzyme 46 0.682 0.538 5.4E-05 0.100 None 0 0
Entrez Id: 55149
Gene Symbol: MTPAP
MTPAP
Q9NVV4 mitochondrial poly(A) polymerase Enzyme 104 0.581 0.769 1.00 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: 56978
Gene Symbol: PRDM8
PRDM8
Q9NQV8 PR/SET domain 8 39 0.678 0.462 0.78 0.100 None 0 0
Entrez Id: 6905
Gene Symbol: TBCE
TBCE
Q15813 tubulin folding cofactor E Chaperone 146 0.575 0.692 1.7E-08 0.100 None 0 0
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 111 0.590 0.577 1.00 0.100 None 0 0
Entrez Id: 51218
Gene Symbol: GLRX5
GLRX5
Q86SX6 glutaredoxin 5 Enzyme 70 0.659 0.538 0.75 0.100 None 0 0
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
Q9H3L0 metabolism of cobalamin associated D 36 0.751 0.385 2.1E-05 0.100 None 0 0
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
Q13509 tubulin beta 3 class III Cellular structure 259 0.486 0.808 2.6E-10 0.100 None 0 0
Entrez Id: 10749
Gene Symbol: KIF1C
KIF1C
O43896 kinesin family member 1C Cellular structure 49 0.700 0.500 0.72 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 0.020 None 1.000 2 1 2014 2015
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.020 None 1.000 2 1 2014 2019
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-23 0.020 None 1.000 2 0 2017 2020
Entrez Id: 7280
Gene Symbol: TUBB2A
TUBB2A
Q13885 tubulin beta 2A class IIa Cellular structure 37 0.678 0.538 0.93 0.010 None 1.000 1 0 2018 2018
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
P07384 calpain 1 Enzyme 165 0.539 0.808 5.9E-10 0.010 None 1.000 1 0 2019 2019
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2
Q9C056 NK6 homeobox 2 Transcription factor 47 0.695 0.500 2.9E-02 0.010 None 1.000 1 0 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 0 2018 2018
Entrez Id: 351
Gene Symbol: APP
APP
P05067 amyloid beta precursor protein Enzyme modulator 485 0.422 0.846 4.7E-02 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
P12272 parathyroid hormone like hormone 321 0.453 0.846 0.81 0.010 None 1.000 1 0 2000 2000
Entrez Id: 57026
Gene Symbol: PDXP
PDXP
Q96GD0 pyridoxal phosphatase Enzyme 149 0.533 0.731 0.26 0.010 None 1.000 1 0 2000 2000
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2
O94830 DDHD domain containing 2 Enzyme 37 0.695 0.577 1.4E-10 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2395
Gene Symbol: FXN
FXN
Q16595 frataxin Enzyme 220 0.510 0.654 0.34 0.010 None 1.000 1 0 1996 1996