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: 4359
Gene Symbol: MPZ
MPZ 		P25189 myelin protein zero 249 0.503 0.846 0.27 0.360 None 0.500 6 1 1992 2006
Entrez Id: 65125
Gene Symbol: WNK1
WNK1 		Q9H4A3 WNK lysine deficient protein kinase 1 Kinase 460 0.416 0.846 1.00 0.340 strong 1.000 4 0 2004 2016
Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46 		Q96AG3 solute carrier family 25 member 46 Transporter 46 0.695 0.308 1.3E-05 0.320 None 1.000 3 0 2015 2019
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 0.320 None 1.000 3 0 1997 2020
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.310 None 0.750 4 0 2004 2009
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1 		O15269 serine palmitoyltransferase long chain base subunit 1 Enzyme 63 0.650 0.538 4.2E-11 0.310 strong 1.000 3 0 1997 2010
Entrez Id: 22880
Gene Symbol: MORC2
MORC2 		Q9Y6X9 MORC family CW-type zinc finger 2 83 0.626 0.462 1.00 0.310 None 1.000 2 1 2016 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.300 None 1.000 2 0 2011 2015
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 213 0.543 0.615 4.8E-19 0.300 None 1.000 1 0 2013 2013
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		Q92562 FIG4 phosphoinositide 5-phosphatase 223 0.551 0.731 2.3E-34 0.300 None 1.000 1 0 2007 2007
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10 		P28358 homeobox D10 83 0.590 0.538 6.3E-02 0.300 None 1.000 1 0 2004 2004
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1 		Q9H6L5 reticulophagy regulator 1 89 0.623 0.538 6.4E-06 0.300 strong 1.000 1 0 2009 2009
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		Q6UWE0 leucine rich repeat and sterile alpha motif containing 1 63 0.638 0.500 3.1E-13 0.300 None 1.000 1 0 2010 2010
Entrez Id: 9927
Gene Symbol: MFN2
MFN2 		O95140 mitofusin 2 Enzyme 334 0.471 0.846 0.99 0.200 None 1.000 83 37 1976 2019
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		P41250 glycyl-tRNA synthetase 1 Enzyme 73 0.623 0.500 0.31 0.140 None 1.000 15 7 1997 2016
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.120 None 1.000 19 6 2004 2016
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 84 0.647 0.462 1.8E-08 0.110 None 1.000 4 2 2010 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		P02545 lamin A/C 824 0.384 0.885 1.00 0.100 None 1.000 154 87 1990 2018
Entrez Id: 100534595
Gene Symbol: HNRNPUL2-BSCL2
HNRNPUL2-BSCL2 		HNRNPUL2-BSCL2 readthrough (NMD candidate) 10 0.780 0.192 0.100 None 1.000 18 6 2004 2016
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 1992 1999
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 2018
Entrez Id: 8731
Gene Symbol: RNMT
RNMT 		O43148 RNA guanine-7 methyltransferase 46 0.647 0.500 5.7E-05 0.040 None 0.500 4 0 1992 2006
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 205 0.527 0.769 1.00 0.040 None 1.000 4 0 1997 1999
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A 		P51149 RAB7A, member RAS oncogene family 95 0.597 0.692 0.97 0.040 None 1.000 4 0 1997 1999
Entrez Id: 8988
Gene Symbol: HSPB3
HSPB3 		Q12988 heat shock protein family B (small) member 3 327 0.448 0.769 6.1E-05 0.030 None 1.000 3 1 2015 2018