Source: GENOMICS_ENGLAND

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: 4359
Gene Symbol: MPZ
MPZ
myelin protein zero 0.535 0.793 0.23
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 1.000 strong 0.992 0 0 1988 2018
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1
leucine rich repeat and sterile alpha motif containing 1 0.681 0.276 1.1E-12
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.850 strong 1.000 0 0 1993 2017
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.561 0.655 3.3E-34
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.800 strong 1.000 0 0 2007 2017
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
peripheral myelin protein 22 0.506 0.690 0.92
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.800 strong 0.964 0 0 1990 2018
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
kinesin family member 1B 0.548 0.586 1.00
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.700 limited 0.981 1 0 1993 2017
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
ganglioside induced differentiation associated protein 1 0.645 0.310 4.6E-08
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.700 strong 0.978 0 0 1993 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.406 0.724 1.00
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.680 strong 1.000 0 0 1993 2007
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
SH3 domain and tetratricopeptide repeats 2 0.672 0.414 4.7E-15
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.680 strong 1.000 0 0 2004 2015
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
transient receptor potential cation channel subfamily V member 4 0.519 0.759 2.6E-16
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.650 strong 1.000 2 0 1993 2016
Entrez Id: 2617
Gene Symbol: GARS
GARS
glycyl-tRNA synthetase 0.656 0.276 0.18
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.600 strong 1.000 0 0 1997 2018
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
neurofilament light 0.577 0.483
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.600 strong 0.955 0 0 2001 2017
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
early growth response 2 0.579 0.621 0.55
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.600 strong 1.000 0 0 1998 2016
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
gap junction protein beta 1 0.527 0.621 0.84
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.600 strong 0.970 0 0 1994 2018
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
myotubularin related protein 2 0.685 0.345 1.4E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.600 strong 1.000 0 0 1997 2018
Entrez Id: 81846
Gene Symbol: SBF2
SBF2
SET binding factor 2 0.672 0.379 1.4E-09
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.580 strong 1.000 0 0 2003 2008
Entrez Id: 22880
Gene Symbol: MORC2
MORC2
MORC family CW-type zinc finger 2 0.762 0.207 1.00
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.540 strong 1.000 2 0 2016 2018
Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
N-myc downstream regulated 1 0.521 0.655 7.7E-03
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.540 strong 1.000 0 0 2004 2015
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10
homeobox D10 0.639 0.414 5.6E-02
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.520 limited 1.000 0 0 2004 2006
Entrez Id: 121512
Gene Symbol: FGD4
FGD4
FYVE, RhoGEF and PH domain containing 4 0.735 0.276 1.4E-02
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.520 strong 1.000 0 0 2007 2012
Entrez Id: 1337
Gene Symbol: COX6A1
COX6A1
cytochrome c oxidase subunit 6A1 0.762 0.138 2.6E-03
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.510 strong 1.000 0 0 2014 2014
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
mitofusin 2 0.541 0.759 0.99
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.500 strong 1.000 0 0 1997 2018
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
dynamin 2 0.540 0.655 1.00
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.500 strong 0.950 0 0 2005 2017
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
heat shock protein family B (small) member 1 0.468 0.690 1.8E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.490 strong 1.000 1 0 2004 2017
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
heat shock protein family B (small) member 8 0.639 0.414 4.2E-02
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.480 strong 1.000 0 0 1993 2017
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
dynein cytoplasmic 1 heavy chain 1 0.596 0.552 1.00
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
disease 0.470 strong 1.000 2 0 1993 2016