Source: ALL
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: 6834
Gene Symbol: SURF1
SURF1 		Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 150 0.578 0.654 1.6E-13 0.010 None 1.000 1 0 2016 2016
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 1 2008 2008
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.010 None 1.000 1 1 2011 2011
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: 5165
Gene Symbol: PDK3
PDK3 		Q15120 pyruvate dehydrogenase kinase 3 Kinase 51 0.678 0.500 0.45 0.010 None 1.000 1 1 2016 2016
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3 		Q12988 heat shock protein family B (small) member 3 327 0.448 0.769 6.1E-05 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4771
Gene Symbol: NF2
NF2 		P35240 neurofibromin 2 312 0.468 0.885 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.010 None 1.000 1 0 2004 2004
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 205 0.527 0.769 1.00 0.010 None 1.000 1 0 1996 1996
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.010 None 1.000 1 0 2016 2016
Entrez Id: 79594
Gene Symbol: MUL1
MUL1 		Q969V5 mitochondrial E3 ubiquitin protein ligase 1 241 0.473 0.808 1.9E-06 0.010 None 1.000 1 0 2013 2013
Entrez Id: 6305
Gene Symbol: SBF1
SBF1 		O95248 SET binding factor 1 Enzyme 34 0.700 0.500 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7150
Gene Symbol: TOP1
TOP1 		P11387 DNA topoisomerase I Enzyme 143 0.542 0.692 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 56704
Gene Symbol: JPH1
JPH1 		Q9HDC5 junctophilin 1 29 0.705 0.269 0.77 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7347
Gene Symbol: UCHL3
UCHL3 		P15374 ubiquitin C-terminal hydrolase L3 Enzyme 24 0.705 0.385 3.3E-08 0.010 None 1.000 1 0 2018 2018
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 65 0.678 0.346 0.21 0.010 None 1.000 1 0 2014 2014
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		Q9NVI7 ATPase family AAA domain containing 3A Enzyme 81 0.628 0.692 4.1E-09 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54840
Gene Symbol: APTX
APTX 		Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.010 None 1.000 1 0 2017 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.010 None 1.000 1 1 2017 2017
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2 		Q13614 myotubularin related protein 2 Enzyme 50 0.659 0.538 3.0E-07 0.010 None 1.000 1 0 2003 2003
Entrez Id: 4358
Gene Symbol: MPV17
MPV17 		P39210 mitochondrial inner membrane protein MPV17 Receptor 134 0.595 0.577 9.7E-11 0.010 None 1.000 1 0 2019 2019
Entrez Id: 23321
Gene Symbol: TRIM2
TRIM2 		Q9C040 tripartite motif containing 2 Enzyme 44 0.686 0.538 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 23064
Gene Symbol: SETX
SETX 		Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.010 None 1.000 1 0 2013 2013
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8 		Q9UJY1 heat shock protein family B (small) member 8 122 0.570 0.577 4.3E-02 0.010 None 1.000 1 0 2017 2017