×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
0.200
Biomarker
disease
MGD
Nab proteins are essential for peripheral nervous system myelination.
16136673
2005
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
0.200
Biomarker
disease
MGD
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy.
10579712
1999
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
0.200
Biomarker
disease
MGD
Connexin32-null mice develop demyelinating peripheral neuropathy.
9700485
1998
×
Entrez Id:
8898
Gene Symbol:
MTMR2
MTMR2
0.200
Biomarker
disease
MGD
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.
15557122
2004
×
Entrez Id:
121512
Gene Symbol:
FGD4
FGD4
0.200
Biomarker
disease
MGD
Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.
23171661
2012
×
Entrez Id:
54332
Gene Symbol:
GDAP1
GDAP1
0.200
Biomarker
disease
MGD
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy.
25860513
2015
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
0.200
Biomarker
disease
MGD
Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.
15703401
2005
×
Entrez Id:
2617
Gene Symbol:
GARS1
GARS1
0.200
Biomarker
disease
MGD
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.
16982418
2006
×
Entrez Id:
10397
Gene Symbol:
NDRG1
NDRG1
0.200
Biomarker
disease
MGD
Ndrg1 in development and maintenance of the myelin sheath.
21303696
2011
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.200
Biomarker
disease
MGD
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
22689911
2012
×
Entrez Id:
9990
Gene Symbol:
SLC12A6
SLC12A6
0.200
Biomarker
disease
MGD
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
12368912
2002
×
Entrez Id:
5376
Gene Symbol:
PMP22
PMP22
0.200
Biomarker
disease
MGD
The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones.
17174099
2007
×
Entrez Id:
4359
Gene Symbol:
MPZ
MPZ
0.200
Biomarker
disease
MGD
Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.
1384988
1992
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
0.200
Biomarker
disease
MGD
Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination.
15695336
2005
×
Entrez Id:
55526
Gene Symbol:
DHTKD1
DHTKD1
0.200
Biomarker
disease
MGD
DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.
29661920
2018
×
Entrez Id:
23095
Gene Symbol:
KIF1B
KIF1B
0.200
Biomarker
disease
MGD
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.
11389829
2001
×
Entrez Id:
9990
Gene Symbol:
SLC12A6
SLC12A6
0.200
Biomarker
disease
MGD
Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.
14532115
2003
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
0.200
Biomarker
disease
MGD
Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32.
9169515
1997
×
Entrez Id:
1959
Gene Symbol:
EGR2
EGR2
0.200
Biomarker
disease
MGD
Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.
19244508
2009
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
0.200
Biomarker
disease
MGD
×
Entrez Id:
1778
Gene Symbol:
DYNC1H1
DYNC1H1
0.200
Biomarker
disease
MGD
A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease.
29379136
2018
×
Entrez Id:
90678
Gene Symbol:
LRSAM1
LRSAM1
0.200
Biomarker
disease
MGD
Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease.
23519028
2013
×
Entrez Id:
2617
Gene Symbol:
GARS1
GARS1
0.200
Biomarker
disease
MGD
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
19470612
2009
×
Entrez Id:
1337
Gene Symbol:
COX6A1
COX6A1
0.200
Biomarker
disease
MGD
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
25152455
2014
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.200
Biomarker
disease
MGD
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
25552649
2015