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: 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: 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: 7276
Gene Symbol: TTR
TTR 		P02766 transthyretin Transporter 461 0.423 0.885 0.52 0.030 None 1.000 3 0 2006 2018
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 0.050 None 1.000 5 0 2010 2020
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 4747
Gene Symbol: NEFL
NEFL 		P07196 neurofilament light 247 0.488 0.769 0.020 None 0.500 2 0 2004 2006
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: 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: 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: 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