×
Entrez Id:
55526
Gene Symbol:
DHTKD1
DHTKD1
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice.
29661920
2018
×
Entrez Id:
1778
Gene Symbol:
DYNC1H1
DYNC1H1
Dejerine-Sottas Disease (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:
4747
Gene Symbol:
NEFL
NEFL
Dejerine-Sottas Disease (disorder)
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
×
Entrez Id:
54332
Gene Symbol:
GDAP1
GDAP1
Dejerine-Sottas Disease (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:
1337
Gene Symbol:
COX6A1
COX6A1
Dejerine-Sottas Disease (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:
90678
Gene Symbol:
LRSAM1
LRSAM1
Dejerine-Sottas Disease (disorder)
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:
9896
Gene Symbol:
FIG4
FIG4
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.
22581779
2012
×
Entrez Id:
121512
Gene Symbol:
FGD4
FGD4
Dejerine-Sottas Disease (disorder)
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:
10397
Gene Symbol:
NDRG1
NDRG1
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
Ndrg1 in development and maintenance of the myelin sheath.
21303696
2011
×
Entrez Id:
2617
Gene Symbol:
GARS1
GARS1
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
22144914
2011
×
Entrez Id:
2617
Gene Symbol:
GARS1
GARS1
Dejerine-Sottas Disease (disorder)
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:
79628
Gene Symbol:
SH3TC2
SH3TC2
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
19805030
2009
×
Entrez Id:
81846
Gene Symbol:
SBF2
SBF2
Dejerine-Sottas Disease (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:
81846
Gene Symbol:
SBF2
SBF2
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2.
17855448
2007
×
Entrez Id:
9896
Gene Symbol:
FIG4
FIG4
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
17572665
2007
×
Entrez Id:
2617
Gene Symbol:
GARS1
GARS1
Dejerine-Sottas Disease (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:
8898
Gene Symbol:
MTMR2
MTMR2
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
An animal model for Charcot-Marie-Tooth disease type 4B1.
16249189
2005
×
Entrez Id:
10397
Gene Symbol:
NDRG1
NDRG1
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves.
15082788
2004
×
Entrez Id:
8898
Gene Symbol:
MTMR2
MTMR2
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.
15557122
2004
×
Entrez Id:
9990
Gene Symbol:
SLC12A6
SLC12A6
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold.
14532115
2003
×
Entrez Id:
9990
Gene Symbol:
SLC12A6
SLC12A6
Dejerine-Sottas Disease (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:
4000
Gene Symbol:
LMNA
LMNA
Dejerine-Sottas Disease (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:
4000
Gene Symbol:
LMNA
LMNA
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy.
10579712
1999
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
×
Entrez Id:
23095
Gene Symbol:
KIF1B
KIF1B
Dejerine-Sottas Disease (disorder)
0.230
Biomarker
MGD
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.
11389829
2001