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: 5376
Gene Symbol: PMP22
PMP22
Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.100 None 1.000 28 0 1995 2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
P25189 myelin protein zero 249 0.503 0.846 0.27 0.100 None 1.000 20 0 1999 2018
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.090 None 1.000 9 1 1994 2018
Entrez Id: 8731
Gene Symbol: RNMT
RNMT
O43148 RNA guanine-7 methyltransferase 46 0.647 0.500 5.7E-05 0.080 None 1.000 8 0 2002 2017
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP
Q15013 MAD2L1 binding protein 61 0.623 0.577 1.4E-08 0.060 None 1.000 6 0 2002 2017
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
O60333 kinesin family member 1B Cellular structure 213 0.516 0.808 1.00 0.060 None 1.000 6 0 2002 2017
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
P04792 heat shock protein family B (small) member 1 395 0.436 0.808 2.8E-07 0.050 None 1.000 5 0 2011 2020
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
P11161 early growth response 2 Nucleic acid binding 133 0.547 0.769 0.50 0.040 None 1.000 4 0 1999 2018
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
P41250 glycyl-tRNA synthetase 1 Enzyme 73 0.623 0.500 0.31 0.040 None 1.000 4 0 2000 2018
Entrez Id: 7276
Gene Symbol: TTR
TTR
P02766 transthyretin Transporter 461 0.423 0.885 0.52 0.040 None 1.000 4 0 1996 2009
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 0.040 None 1.000 4 0 2011 2018
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
Q8TF17 SH3 domain and tetratricopeptide repeats 2 55 0.666 0.385 8.3E-16 0.040 None 1.000 4 1 2009 2018
Entrez Id: 3094
Gene Symbol: HINT1
HINT1
P49773 histidine triad nucleotide binding protein 1 Enzyme 105 0.619 0.577 1.8E-03 0.030 None 0.667 3 0 2015 2017
Entrez Id: 5827
Gene Symbol: PXMP2
PXMP2
Q9NR77 peroxisomal membrane protein 2 Receptor 16 0.743 0.192 9.2E-03 0.020 None 1.000 2 0 1995 2005
Entrez Id: 57716
Gene Symbol: PRX
PRX
Q9BXM0 periaxin 75 0.650 0.577 2.1E-14 0.020 None 1.000 2 0 2010 2016
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.020 None 1.000 2 0 2000 2016
Entrez Id: 2618
Gene Symbol: GART
GART
P22102 phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Enzyme 48 0.631 0.615 2.8E-04 0.020 None 1.000 2 0 2006 2015
Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
Q92597 N-myc downstream regulated 1 Enzyme 225 0.488 0.731 1.1E-02 0.020 None 1.000 2 0 2013 2016
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
O15269 serine palmitoyltransferase long chain base subunit 1 Enzyme 63 0.650 0.538 4.2E-11 0.020 None 1.000 2 0 2010 2012
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1
Q7RTP0 NIPA magnesium transporter 1 Transporter 50 0.682 0.462 5.9E-03 0.300 None 1.000 2 0 2003 2005
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
Q13614 myotubularin related protein 2 Enzyme 50 0.659 0.538 3.0E-07 0.020 None 1.000 2 0 2001 2001
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 2008 2013
Entrez Id: 8139
Gene Symbol: GAN
GAN
Q9H2C0 gigaxonin 71 0.674 0.500 2.5E-02 0.020 None 1.000 2 0 2012 2014
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
O95140 mitofusin 2 Enzyme 334 0.471 0.846 0.99 0.020 None 1.000 2 0 2008 2018
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
Q9GZV3 solute carrier family 5 member 7 Transporter 127 0.597 0.654 1.5E-02 0.010 None 1.000 1 1 2019 2019