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: 9048
Gene Symbol: ARTN
ARTN
Q5T4W7 artemin Signaling 248 0.480 0.846 0.36 0.210 None 1.000 3 0 2005 2010
Entrez Id: 7098
Gene Symbol: TLR3
TLR3
O15455 toll like receptor 3 Receptor 393 0.427 0.885 1.6E-07 0.200 None 1.000 1 0 2011 2011
Entrez Id: 4056
Gene Symbol: LTC4S
LTC4S
Q16873 leukotriene C4 synthase Enzyme 50 0.647 0.731 8.5E-04 0.200 None 1.000 1 0 2010 2010
Entrez Id: 5375
Gene Symbol: PMP2
PMP2
P02689 peripheral myelin protein 2 20 0.769 0.231 8.5E-03 0.120 None 1.000 3 2 2015 2019
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.120 None 1.000 2 1 2014 2016
Entrez Id: 1890
Gene Symbol: TYMP
TYMP
P19971 thymidine phosphorylase Enzyme 246 0.495 0.769 1.2E-04 0.120 None 1.000 2 2 2009 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
P02545 lamin A/C 824 0.384 0.885 1.00 0.120 None 1.000 2 1 2005 2005
Entrez Id: 7276
Gene Symbol: TTR
TTR
P02766 transthyretin Transporter 461 0.423 0.885 0.52 0.100 None 1.000 20 8 1990 2019
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.100 None 1.000 15 1 1996 2018
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.100 None 1.000 13 1 1998 2018
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
P50542 peroxisomal biogenesis factor 5 Transporter 174 0.561 0.731 5.6E-05 0.100 None 1.000 1 1 2015 2015
Entrez Id: 25822
Gene Symbol: DNAJB5
DNAJB5
O75953 DnaJ heat shock protein family (Hsp40) member B5 4 0.931 0.115 0.21 0.100 None 1.000 1 1 2015 2015
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
Q9NVI7 ATPase family AAA domain containing 3A Enzyme 81 0.628 0.692 4.1E-09 0.100 None 1.000 1 1 2016 2016
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 1.000 1 1 2015 2015
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 1.000 1 1 2016 2016
Entrez Id: 55699
Gene Symbol: IARS2
IARS2
Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 95 0.590 0.654 8.1E-02 0.100 None 1.000 1 1 2014 2014
Entrez Id: 55304
Gene Symbol: SPTLC3
SPTLC3
Q9NUV7 serine palmitoyltransferase long chain base subunit 3 Enzyme 10 0.821 0.192 3.2E-07 0.100 None 1.000 1 1 2015 2015
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B
O96011 peroxisomal biogenesis factor 11 beta 120 0.612 0.654 1.3E-04 0.100 None 0 2
Entrez Id: 1337
Gene Symbol: COX6A1
COX6A1
P12074 cytochrome c oxidase subunit 6A1 Enzyme 18 0.780 0.154 2.3E-03 0.100 None 0 1
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
Q2TAL8 glutamine rich 1 Enzyme modulator 60 0.716 0.423 1.00 0.100 None 0 1
Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
O95255 ATP binding cassette subfamily C member 6 Transporter 181 0.540 0.654 5.6E-35 0.100 None 0 2
Entrez Id: 7167
Gene Symbol: TPI1
TPI1
P60174 triosephosphate isomerase 1 Enzyme 184 0.517 0.846 3.0E-02 0.100 None 0 1
Entrez Id: 673
Gene Symbol: BRAF
BRAF
P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1228 0.319 0.846 1.00 0.100 None 0 1
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
P07510 cholinergic receptor nicotinic gamma subunit Ion channel 124 0.573 0.692 3.3E-19 0.100 None 0 1
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
O95140 mitofusin 2 Enzyme 334 0.471 0.846 0.99 0.070 None 1.000 7 1 2008 2019