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: 1254
Gene Symbol: CMTX3
CMTX3 		Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant) 8 0.821 0.154 0.010 None 1.000 1 0 2018 2018
Entrez Id: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 684 0.374 0.885 5.6E-47 0.300 None 0 0
Entrez Id: 4640
Gene Symbol: MYO1A
MYO1A 		Q9UBC5 myosin IA Cellular structure 16 0.769 0.269 8.9E-46 0.010 None 1.000 1 0 2016 2016
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.300 moderate 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		Q92562 FIG4 phosphoinositide 5-phosphatase 223 0.551 0.731 2.3E-34 0.010 None 1.000 1 0 2013 2013
Entrez Id: 26278
Gene Symbol: SACS
SACS 		Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.300 None 0 0
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26 		Q68DK2 zinc finger FYVE-type containing 26 79 0.636 0.615 4.7E-23 0.300 None 0 0
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 strong 1.000 1 0 2015 2015
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5 		Q12768 WASH complex subunit 5 Transporter 129 0.572 0.615 8.3E-18 0.300 None 1.000 1 0 2016 2016
Entrez Id: 55775
Gene Symbol: TDP1
TDP1 		Q9NUW8 tyrosyl-DNA phosphodiesterase 1 Enzyme 70 0.612 0.538 1.3E-17 0.300 limited 1.000 1 0 2002 2002
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: 3508
Gene Symbol: IGHMBP2
IGHMBP2 		P38935 immunoglobulin mu DNA binding protein 2 102 0.636 0.615 3.0E-16 0.010 None 1.000 1 0 2018 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: 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: 19
Gene Symbol: ABCA1
ABCA1 		O95477 ATP binding cassette subfamily A member 1 Transporter 291 0.467 0.846 1.5E-13 0.010 None 1.000 1 0 2019 2019
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		Q8IY17 patatin like phospholipase domain containing 6 Enzyme 167 0.533 0.769 1.9E-13 0.300 moderate 1.000 1 0 2014 2014
Entrez Id: 5191
Gene Symbol: PEX7
PEX7 		O00628 peroxisomal biogenesis factor 7 100 0.603 0.615 8.2E-13 0.300 None 0 0
Entrez Id: 4361
Gene Symbol: MRE11
MRE11 		P49959 MRE11 homolog, double strand break repair nuclease 171 0.527 0.808 1.3E-12 0.300 None 0 0
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: 3483
Gene Symbol: IGFALS
IGFALS 		P35858 insulin like growth factor binding protein acid labile subunit Receptor 203 0.511 0.846 5.4E-11 0.010 None 1.000 1 0 2010 2010
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		Q8NI60 coenzyme Q8A Kinase 64 0.674 0.385 9.3E-11 0.300 None 0 0
Entrez Id: 1621
Gene Symbol: DBH
DBH 		P09172 dopamine beta-hydroxylase 202 0.511 0.846 3.3E-10 0.010 None 1.000 1 0 2015 2015
Entrez Id: 6717
Gene Symbol: SRI
SRI 		P30626 sorcin 80 0.587 0.769 3.5E-10 0.010 None 1.000 1 0 1999 1999
Entrez Id: 54840
Gene Symbol: APTX
APTX 		Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.300 None 1.000 1 0 2001 2001