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: 59341
Gene Symbol: TRPV4
TRPV4
Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.020 None 1.000 2 0 2012 2014
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
O60333 kinesin family member 1B Cellular structure 213 0.516 0.808 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 3035
Gene Symbol: HARS1
HARS1
P12081 histidyl-tRNA synthetase 1 Enzyme 127 0.569 0.808 2.4E-06 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
P55084 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta Enzyme 101 0.619 0.692 1.5E-11 0.010 None 1.000 1 0 2019 2019
Entrez Id: 22930
Gene Symbol: RAB3GAP1
RAB3GAP1
Q15042 RAB3 GTPase activating protein catalytic subunit 1 138 0.566 0.692 1.5E-07 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.010 None 1.000 1 0 2006 2006
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
Q12840 kinesin family member 5A Cellular structure 112 0.593 0.731 1.00 0.110 None 1.000 1 0 2011 2011
Entrez Id: 23438
Gene Symbol: HARS2
HARS2
P49590 histidyl-tRNA synthetase 2, mitochondrial Enzyme 25 0.705 0.462 2.8E-05 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.010 None 1.000 1 0 2015 2015
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
P49773 histidine triad nucleotide binding protein 1 Enzyme 105 0.619 0.577 1.8E-03 0.010 None 1.000 1 0 2016 2016
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.110 None 1.000 1 0 2016 2016
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
Q13509 tubulin beta 3 class III Cellular structure 259 0.486 0.808 2.6E-10 0.010 None 1.000 1 0 2015 2015
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
O95140 mitofusin 2 Enzyme 334 0.471 0.846 0.99 0.110 None 1.000 1 1 2015 2015
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
Q15013 MAD2L1 binding protein 61 0.623 0.577 1.4E-08 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
P02545 lamin A/C 824 0.384 0.885 1.00 0.010 None 1.000 1 0 2010 2010
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
P12036 neurofilament heavy 120 0.588 0.769 2.7E-12 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.010 None 1.000 1 0 2016 2016
Entrez Id: 81857
Gene Symbol: MED25
MED25
Q71SY5 mediator complex subunit 25 Transcription factor 114 0.582 0.654 8.4E-07 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9
Q16795 NADH:ubiquinone oxidoreductase subunit A9 Enzyme 56 0.653 0.385 4.8E-03 0.010 None 1.000 1 0 2018 2018
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
Q9NUW8 tyrosyl-DNA phosphodiesterase 1 Enzyme 70 0.612 0.538 1.3E-17 0.100 None 0 0
Entrez Id: 55958
Gene Symbol: KLHL9
KLHL9
Q9P2J3 kelch like family member 9 18 0.839 0.154 0.82 0.100 None 0 0
Entrez Id: 55187
Gene Symbol: VPS13D
VPS13D
Q5THJ4 vacuolar protein sorting 13 homolog D 33 0.769 0.346 1.1E-06 0.100 None 0 0
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
Q9NVI7 ATPase family AAA domain containing 3A Enzyme 81 0.628 0.692 4.1E-09 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 0 8