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: 6904
Gene Symbol: TBCD
TBCD
Q9BTW9 tubulin folding cofactor D Cellular structure 129 0.599 0.615 1.0E-07 0.400 None 1.000 1 0 2016 2016
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.110 None 1.000 1 0 2009 2009
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
P63162 Q9Y675 small nuclear ribonucleoprotein polypeptide N Nucleic acid binding 183 0.538 0.731 4.3E-02 0.010 None 1.000 1 0 2013 2013
Entrez Id: 6607
Gene Symbol: SMN2
SMN2
Q16637 survival of motor neuron 2, centromeric 299 0.459 0.769 0.10 0.010 None 1.000 1 0 2013 2013
Entrez Id: 6606
Gene Symbol: SMN1
SMN1
Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 317 0.454 0.769 1.6E-02 0.010 None 1.000 1 0 2013 2013
Entrez Id: 25821
Gene Symbol: MTO1
MTO1
Q9Y2Z2 mitochondrial tRNA translation optimization 1 48 0.670 0.462 7.4E-06 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7296
Gene Symbol: TXNRD1
TXNRD1
Q16881 thioredoxin reductase 1 Enzyme 136 0.529 0.692 1.6E-06 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1
P09936 ubiquitin C-terminal hydrolase L1 Enzyme 260 0.482 0.885 0.99 0.110 None 1.000 1 0 2015 2015
Entrez Id: 2232
Gene Symbol: FDXR
FDXR
P22570 ferredoxin reductase Enzyme 103 0.566 0.808 1.1E-06 0.110 None 1.000 1 0 2017 2017
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2
Q9HAB3 solute carrier family 52 member 2 Transporter 261 0.483 0.808 2.5E-03 0.110 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: 2026
Gene Symbol: ENO2
ENO2
P09104 enolase 2 Enzyme 239 0.475 0.846 0.38 0.010 None 1.000 1 0 2000 2000
Entrez Id: 7884
Gene Symbol: SLBP
SLBP
Q14493 stem-loop binding protein Nucleic acid binding 45 0.653 0.654 6.8E-02 0.300 None 1.000 1 0 2019 2019
Entrez Id: 22974
Gene Symbol: TPX2
TPX2
Q9ULW0 TPX2 microtubule nucleation factor Cellular structure 122 0.541 0.692 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
O60840 calcium voltage-gated channel subunit alpha1 F Ion channel 81 0.595 0.500 1.2E-05 0.010 None 1.000 1 0 2003 2003
Entrez Id: 777778
Gene Symbol: OPA6
OPA6
optic atrophy 6 (autosomal recessive) 2 0.931 0.115 0.010 None 1.000 1 0 2012 2012
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Q9NRG9 aladin WD repeat nucleoporin 92 0.601 0.654 2.4E-13 0.110 None 1.000 1 0 2018 2018
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.110 None 1.000 1 0 2016 2016
Entrez Id: 23411
Gene Symbol: SIRT1
SIRT1
Q96EB6 sirtuin 1 Epigenetic regulator 675 0.378 0.885 8.7E-02 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 0.110 None 1.000 1 0 2009 2009
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
P55055 nuclear receptor subfamily 1 group H member 2 Nuclear receptor 134 0.533 0.769 0.38 0.010 None 1.000 1 0 2019 2019
Entrez Id: 28962
Gene Symbol: OSTM1
OSTM1
Q86WC4 osteoclastogenesis associated transmembrane protein 1 66 0.644 0.577 1.1E-02 0.110 None 1.000 1 0 2006 2006
Entrez Id: 6490
Gene Symbol: PMEL
PMEL
P40967 premelanosome protein Signaling 138 0.531 0.769 3.1E-18 0.010 None 1.000 1 0 2018 2018
Entrez Id: 596
Gene Symbol: BCL2
BCL2
P10415 BCL2 apoptosis regulator Signaling 1456 0.291 0.885 0.56 0.010 None 1.000 1 0 2000 2000
Entrez Id: 58156
Gene Symbol: OPA4
OPA4
optic atrophy 4 (autosomal dominant) 4 0.861 0.154 0.010 None 1.000 1 0 2004 2004