×
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
Hypertrophic neuropathy of infancy
0.200
Biomarker
MGD
Nab proteins are essential for peripheral nervous system myelination.
16136673 2005
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Hypertrophic neuropathy of infancy
0.200
Biomarker
MGD
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy.
10579712 1999
×
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
Hypertrophic neuropathy of infancy
0.200
Biomarker
MGD
Connexin32-null mice develop demyelinating peripheral neuropathy.
9700485 1998
×
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
Hypertrophic neuropathy of infancy
0.200
Biomarker
MGD
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.
15557122 2004
×
Entrez Id: 121512
Gene Symbol: FGD4
FGD4
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
MGD
Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA.
15703401 2005
×
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
MGD
Ndrg1 in development and maintenance of the myelin sheath.
21303696 2011
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
MGD
DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.
29661920 2018
×
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
Hypertrophic neuropathy of infancy
0.200
Biomarker
MGD
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.
11389829 2001
×
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
Hypertrophic neuropathy of infancy
0.200
Biomarker
MGD
Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.
14532115 2003
×
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
MGD
Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.
19244508 2009
×
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
Hypertrophic neuropathy of infancy
0.200
Biomarker
MGD
×
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
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
Hypertrophic neuropathy of infancy
0.200
Biomarker
MGD
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
25552649 2015