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: 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: 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: 2705
Gene Symbol: GJB1
GJB1
P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.010 None 1.000 1 0 1998 1998
Entrez Id: 942
Gene Symbol: CD86
CD86
P42081 CD86 molecule 219 0.483 0.769 0.95 0.010 None 1.000 1 0 2000 2000
Entrez Id: 940
Gene Symbol: CD28
CD28
P10747 CD28 molecule 364 0.436 0.885 0.36 0.010 None 1.000 1 0 2000 2000
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
P16410 cytotoxic T-lymphocyte associated protein 4 722 0.369 0.923 0.94 0.010 None 1.000 1 0 2000 2000
Entrez Id: 941
Gene Symbol: CD80
CD80
P33681 CD80 molecule 233 0.475 0.769 1.1E-02 0.010 None 1.000 1 0 2000 2000
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: 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: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.020 None 0.500 2 0 2004 2006
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: 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: 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: 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: 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: 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: 4359
Gene Symbol: MPZ
MPZ
P25189 myelin protein zero 249 0.503 0.846 0.27 0.040 None 1.000 4 1 2006 2012
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.020 None 1.000 2 0 2012 2012
Entrez Id: 5071
Gene Symbol: PRKN
PRKN
O60260 parkin RBR E3 ubiquitin protein ligase Enzyme 409 0.431 0.846 6.9E-07 0.020 None 1.000 2 0 2005 2013
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: 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: 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: 158506
Gene Symbol: CBLL2
CBLL2
Q8N7E2 Cbl proto-oncogene like 2 Enzyme 235 0.476 0.808 0.010 None 1.000 1 0 2013 2013
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: 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