×
Entrez Id:
10397
Gene Symbol:
NDRG1
NDRG1
Roussy-Levy Syndrome (disorder)
0.200
Biomarker
MGD
Ndrg1 in development and maintenance of the myelin sheath.
21303696
2011
×
Entrez Id:
1337
Gene Symbol:
COX6A1
COX6A1
Roussy-Levy Syndrome (disorder)
0.200
Biomarker
MGD
A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
25152455
2014
×
Entrez Id:
9990
Gene Symbol:
SLC12A6
SLC12A6
Roussy-Levy Syndrome (disorder)
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:
1959
Gene Symbol:
EGR2
EGR2
Roussy-Levy Syndrome (disorder)
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:
81846
Gene Symbol:
SBF2
SBF2
Roussy-Levy Syndrome (disorder)
0.200
Biomarker
MGD
Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
18349142
2008
×
Entrez Id:
1778
Gene Symbol:
DYNC1H1
DYNC1H1
Roussy-Levy Syndrome (disorder)
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:
8898
Gene Symbol:
MTMR2
MTMR2
Roussy-Levy Syndrome (disorder)
0.200
Biomarker
MGD
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.
15557122
2004
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Roussy-Levy Syndrome (disorder)
0.200
Biomarker
MGD
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
11799477
2002
×
Entrez Id:
10397
Gene Symbol:
NDRG1
NDRG1
Roussy-Levy Syndrome (disorder)
0.200
Biomarker
MGD
Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves.
15082788
2004
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Roussy-Levy Syndrome (disorder)
0.200
Biomarker
MGD
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy.
10579712
1999
×
Entrez Id:
2617
Gene Symbol:
GARS1
GARS1
Roussy-Levy Syndrome (disorder)
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:
2705
Gene Symbol:
GJB1
GJB1
Roussy-Levy Syndrome (disorder)
0.200
Biomarker
MGD
Connexin32-null mice develop demyelinating peripheral neuropathy.
9700485
1998
×
Entrez Id:
2705
Gene Symbol:
GJB1
GJB1
Roussy-Levy Syndrome (disorder)
0.200
Biomarker
MGD
Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice.
8790370
1996
×
Entrez Id:
54332
Gene Symbol:
GDAP1
GDAP1
Roussy-Levy Syndrome (disorder)
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:
9927
Gene Symbol:
MFN2
MFN2
Roussy-Levy Syndrome (disorder)
0.200
Biomarker
MGD
×
Entrez Id:
8898
Gene Symbol:
MTMR2
MTMR2
Roussy-Levy Syndrome (disorder)
0.200
Biomarker
MGD
An animal model for Charcot-Marie-Tooth disease type 4B1.
16249189
2005
×
Entrez Id:
2617
Gene Symbol:
GARS1
GARS1
Roussy-Levy Syndrome (disorder)
0.200
Biomarker
MGD
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
22144914
2011