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: 9488
Gene Symbol: PIGB
PIGB
Q92521 phosphatidylinositol glycan anchor biosynthesis class B Enzyme 12 0.839 0.038 3.9E-11 0.010 None 1.000 1 0 2019 2019
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: 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: 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: 116228
Gene Symbol: COX20
COX20
Q5RI15 cytochrome c oxidase assembly factor COX20 44 0.705 0.538 2.0E-02 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: 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: 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: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
Q15013 MAD2L1 binding protein 61 0.623 0.577 1.4E-08 0.080 None 1.000 8 1 1994 2014
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: 55775
Gene Symbol: TDP1
TDP1
Q9NUW8 tyrosyl-DNA phosphodiesterase 1 Enzyme 70 0.612 0.538 1.3E-17 0.100 None 1.000 11 1 2002 2020
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
P41250 glycyl-tRNA synthetase 1 Enzyme 73 0.623 0.500 0.31 0.010 None 1.000 1 0 1996 1996
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: 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: 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: 7879
Gene Symbol: RAB7A
RAB7A
P51149 RAB7A, member RAS oncogene family 95 0.597 0.692 0.97 0.020 None 1.000 2 0 2008 2009
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
Q8TB36 ganglioside induced differentiation associated protein 1 96 0.612 0.538 3.2E-08 0.020 None 1.000 2 1 2016 2017
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
P49773 histidine triad nucleotide binding protein 1 Enzyme 105 0.619 0.577 1.8E-03 0.060 None 1.000 6 0 2012 2018
Entrez Id: 124583
Gene Symbol: CANT1
CANT1
Q8WVQ1 calcium activated nucleotidase 1 111 0.619 0.731 2.5E-06 0.010 None 1.000 1 0 2010 2010
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
Q12840 kinesin family member 5A Cellular structure 112 0.593 0.731 1.00 0.020 None 1.000 2 0 2011 2014
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
Q8WXF7 atlastin GTPase 1 Enzyme modulator 112 0.593 0.654 0.98 0.020 None 1.000 2 0 2005 2010
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
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: 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: 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