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: 4747
Gene Symbol: NEFL
NEFL 		P07196 neurofilament light 247 0.488 0.769 0.220 None 1.000 3 0 2001 2015
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: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.010 None 1.000 1 0 2016 2016
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		Q92562 FIG4 phosphoinositide 5-phosphatase 223 0.551 0.731 2.3E-34 0.210 None 1.000 2 0 2007 2012
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1 		Q96HY7 dehydrogenase E1 and transketolase domain containing 1 28 0.711 0.385 2.8E-30 0.200 None 1.000 1 0 2018 2018
Entrez Id: 26278
Gene Symbol: SACS
SACS 		Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.010 None 1.000 1 0 2018 2018
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26 		Q68DK2 zinc finger FYVE-type containing 26 79 0.636 0.615 4.7E-23 0.010 None 1.000 1 0 2016 2016
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: 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 2001 2012
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		Q8TF17 SH3 domain and tetratricopeptide repeats 2 55 0.666 0.385 8.3E-16 0.210 None 1.000 2 1 2009 2013
Entrez Id: 57716
Gene Symbol: PRX
PRX 		Q9BXM0 periaxin 75 0.650 0.577 2.1E-14 0.300 None 0 0
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 0.200 None 1.000 1 0 2013 2013
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: 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: 81846
Gene Symbol: SBF2
SBF2 		Q86WG5 SET binding factor 2 Enzyme 77 0.619 0.577 6.4E-10 0.200 None 1.000 2 0 2007 2008
Entrez Id: 51540
Gene Symbol: SCLY
SCLY 		Q96I15 selenocysteine lyase Enzyme 161 0.530 0.731 2.3E-09 0.010 None 1.000 1 0 2012 2012
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		Q9NQ11 ATPase cation transporting 13A2 160 0.566 0.577 9.0E-09 0.010 None 1.000 1 0 2016 2016
Entrez Id: 9587
Gene Symbol: MAD2L1BP
MAD2L1BP 		Q15013 MAD2L1 binding protein 61 0.623 0.577 1.4E-08 0.030 None 1.000 3 0 1992 2009
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1 		Q8TB36 ganglioside induced differentiation associated protein 1 96 0.612 0.538 3.2E-08 0.220 None 1.000 3 0 2000 2015
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2 		Q13614 myotubularin related protein 2 Enzyme 50 0.659 0.538 3.0E-07 0.230 None 1.000 5 0 1996 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: 6445
Gene Symbol: SGCG
SGCG 		Q13326 sarcoglycan gamma Cellular structure 93 0.621 0.615 4.8E-05 0.010 None 1.000 1 0 2014 2014
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: 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: 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