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: 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: 538
Gene Symbol: ATP7A
ATP7A 		Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 7276
Gene Symbol: TTR
TTR 		P02766 transthyretin Transporter 461 0.423 0.885 0.52 0.010 None 1.000 1 0 1989 1989
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: 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: 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: 4284
Gene Symbol: MIP
MIP 		P30301 major intrinsic protein of lens fiber Ion channel 181 0.507 0.846 3.1E-02 0.010 None 1.000 1 0 2015 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: 1785
Gene Symbol: DNM2
DNM2 		P50570 dynamin 2 Enzyme modulator 178 0.542 0.769 1.00 0.020 None 1.000 2 0 2007 2008
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: 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: 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: 1514
Gene Symbol: CTSL
CTSL 		P07711 cathepsin L Enzyme 225 0.488 0.846 8.0E-03 0.010 None 1.000 1 0 2015 2015
Entrez Id: 3094
Gene Symbol: HINT1
HINT1 		P49773 histidine triad nucleotide binding protein 1 Enzyme 105 0.619 0.577 1.8E-03 0.010 None 1.000 1 0 2020 2020
Entrez Id: 4311
Gene Symbol: MME
MME 		P08473 membrane metalloendopeptidase Enzyme 470 0.407 0.808 1.5E-18 0.010 None 1.000 1 0 2016 2016
Entrez Id: 57486
Gene Symbol: NLN
NLN 		Q9BYT8 neurolysin Enzyme 74 0.597 0.731 3.9E-12 0.010 None 1.000 1 0 2015 2015
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: 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: 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 2014 2018
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: 2705
Gene Symbol: GJB1
GJB1 		P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.010 None < 0.001 1 0 2004 2004
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: 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: 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