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: 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: 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: 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: 23095
Gene Symbol: KIF1B
KIF1B 		O60333 kinesin family member 1B Cellular structure 213 0.516 0.808 1.00 0.100 None 1.000 11 0 1994 2015
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: 3981
Gene Symbol: LIG4
LIG4 		P49917 DNA ligase 4 293 0.478 0.846 4.2E-06 0.010 None 1.000 1 0 2020 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		P02545 lamin A/C 824 0.384 0.885 1.00 0.020 None 1.000 2 0 2009 2015
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: 9927
Gene Symbol: MFN2
MFN2 		O95140 mitofusin 2 Enzyme 334 0.471 0.846 0.99 0.100 None 1.000 11 2 2005 2019
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: 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: 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: 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: 4747
Gene Symbol: NEFL
NEFL 		P07196 neurofilament light 247 0.488 0.769 0.020 None 0.500 2 0 2004 2006
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: 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: 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: 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: 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: 11284
Gene Symbol: PNKP
PNKP 		Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.020 None 1.000 2 0 2004 2016
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: 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: 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: 23064
Gene Symbol: SETX
SETX 		Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.010 None 1.000 1 0 2013 2013