Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.471 0.885 0.91
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.700 None 0.984 1 1 1990 2020
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
ganglioside induced differentiation associated protein 1 0.612 0.538 3.2E-08
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.700 moderate 0.987 1 3 1993 2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.503 0.846 0.27
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.700 None 1.000 1 6 1988 2020
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1
leucine rich repeat and sterile alpha motif containing 1 0.638 0.500 3.1E-13
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.680 None 0.875 0 2 2010 2019
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.457 0.808 2.2E-16
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.430 None 1.000 0 4 2003 2015
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
SH3 domain and tetratricopeptide repeats 2 0.666 0.385 8.3E-16
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.400 None 1.000 6 4 2003 2019
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.471 0.846 0.99
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.400 None 0.986 5 2 1996 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.400 None 0.938 2 5 1999 2016
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.514 0.731 0.85
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.400 None 0.992 0 1 1994 2019
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
kinesin family member 1B 0.516 0.808 1.00
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.400 None 1.000 0 1 1986 2018
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.547 0.769 1.00
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.390 None 1.000 2 2 2011 2018
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
heat shock protein family B (small) member 1 0.436 0.808 2.8E-07
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.200 None 0.957 5 1 2004 2019
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
dynamin 2 0.542 0.769 1.00
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.200 None 0.964 1 1 2005 2019
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
heat shock protein family B (small) member 8 0.570 0.577 4.3E-02
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.200 None 1.000 0 2 2005 2018
Entrez Id: 16
Gene Symbol: AARS1
AARS1
alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.160 None 1.000 0 2 2010 2018
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
ATP synthase F0 subunit 6 0.541 0.731
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.140 None 1.000 1 1 2007 2017
Entrez Id: 6305
Gene Symbol: SBF1
SBF1
SET binding factor 1 0.700 0.500 1.00
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.140 None 1.000 0 1 2000 2018
Entrez Id: 9639
Gene Symbol: ARHGEF10
ARHGEF10
Rho guanine nucleotide exchange factor 10 0.729 0.577 6.8E-30
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.130 None 1.000 1 1 2014 2017
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
immunoglobulin mu DNA binding protein 2 0.636 0.615 3.0E-16
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.130 None 1.000 0 6 2017 2019
Entrez Id: 81857
Gene Symbol: MED25
MED25
mediator complex subunit 25 0.582 0.654 8.4E-07
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.130 None 0.667 0 1 2007 2018
Entrez Id: 4141
Gene Symbol: MARS1
MARS1
methionyl-tRNA synthetase 1 0.638 0.654 2.1E-15
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.120 None 1.000 0 1 2016 2018
Entrez Id: 9531
Gene Symbol: BAG3
BAG3
BAG cochaperone 3 0.498 0.846 0.62
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.110 None 1.000 0 1 2018 2018
Entrez Id: 3300
Gene Symbol: DNAJB2
DNAJB2
DnaJ heat shock protein family (Hsp40) member B2 0.743 0.192 5.4E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.110 None 1.000 0 2 2017 2017
Entrez Id: 9150
Gene Symbol: CTDP1
CTDP1
CTD phosphatase subunit 1 0.641 0.577 6.0E-04
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.100 None 1.000 1 1 2005 2005