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: 101059903
Gene Symbol: HMSN5
HMSN5
Hereditary motor and sensory neuropathy V 2 1.000 0.077 0.010 None < 0.001 1 0 1997 1997
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.010 None 1.000 1 0 2005 2005
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
O14773 tripeptidyl peptidase 1 Enzyme 151 0.551 0.808 6.3E-07 0.010 None 1.000 1 0 2016 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 2002 2011
Entrez Id: 8731
Gene Symbol: RNMT
RNMT
O43148 RNA guanine-7 methyltransferase 46 0.647 0.500 5.7E-05 0.070 None 1.000 7 0 1992 2017
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
O60333 kinesin family member 1B Cellular structure 213 0.516 0.808 1.00 0.230 None 1.000 4 0 1992 2009
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
O95140 mitofusin 2 Enzyme 334 0.471 0.846 0.99 0.240 None 1.000 4 0 2001 2009
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 205 0.527 0.769 1.00 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
P00533 epidermal growth factor receptor Kinase 1394 0.295 0.885 0.37 0.010 None 1.000 1 0 2015 2015
Entrez Id: 1950
Gene Symbol: EGF
EGF
P01133 epidermal growth factor 774 0.357 0.923 8.5E-17 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
P02545 lamin A/C 824 0.384 0.885 1.00 0.200 None 1.000 2 0 1999 2002
Entrez Id: 3931
Gene Symbol: LCAT
LCAT
P04180 lecithin-cholesterol acyltransferase Enzyme 94 0.588 0.654 8.1E-02 0.010 None 1.000 1 0 1976 1976
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.220 None 1.000 3 0 2001 2015
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.270 None 1.000 10 0 1995 2019
Entrez Id: 3855
Gene Symbol: KRT7
KRT7
P08729 keratin 7 287 0.463 0.808 3.1E-12 0.010 None 1.000 1 0 2012 2012
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
P11161 early growth response 2 Nucleic acid binding 133 0.547 0.769 0.50 0.500 None 1.000 3 0 2005 2009
Entrez Id: 1337
Gene Symbol: COX6A1
COX6A1
P12074 cytochrome c oxidase subunit 6A1 Enzyme 18 0.780 0.154 2.3E-03 0.200 None 1.000 1 0 2014 2014
Entrez Id: 6886
Gene Symbol: TAL1
TAL1
P17542 TAL bHLH transcription factor 1, erythroid differentiation factor Transcription factor 202 0.505 0.731 0.57 0.010 None 1.000 1 0 2012 2012
Entrez Id: 3098
Gene Symbol: HK1
HK1
P19367 hexokinase 1 Kinase 161 0.542 0.731 0.91 0.030 None 1.000 3 0 2009 2016
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
P25189 myelin protein zero 249 0.503 0.846 0.27 0.600 None 0.905 21 3 1992 2019
Entrez Id: 3300
Gene Symbol: DNAJB2
DNAJB2
P25686 DnaJ heat shock protein family (Hsp40) member B2 25 0.743 0.192 5.4E-05 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
P26358 DNA methyltransferase 1 Epigenetic regulator 496 0.406 0.885 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
P35251 replication factor C subunit 1 144 0.541 0.808 0.97 0.300 None 1.000 1 0 2019 2019
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
P41250 glycyl-tRNA synthetase 1 Enzyme 73 0.623 0.500 0.31 0.210 None 1.000 4 0 2001 2011
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