×
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
Dejerine-Sottas Disease (disorder)
0.200
Biomarker
MGD
×
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: 4359
Gene Symbol: MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
Biomarker
MGD
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.
30239779 2019
×
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: 5376
Gene Symbol: PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
Biomarker
MGD
Abnormal Schwann cell/axon interactions in the Trembler-J mouse.
9147228 1997
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
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
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: 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: 1959
Gene Symbol: EGR2
EGR2
Dejerine-Sottas Disease (disorder)
0.940
Biomarker
MGD
Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination.
15695336 2005
×
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
×
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: 1959
Gene Symbol: EGR2
EGR2
Dejerine-Sottas Disease (disorder)
0.940
Biomarker
MGD
Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.
19244508 2009
×
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
Dejerine-Sottas Disease (disorder)
0.630
Biomarker
MGD
Connexin32-null mice develop demyelinating peripheral neuropathy.
9700485 1998
×
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
Dejerine-Sottas Disease (disorder)
0.630
Biomarker
MGD
Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice.
8790370 1996
×
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: 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: 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: 5376
Gene Symbol: PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
Biomarker
MGD
Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model.
15748170 2005
×
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: 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: 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: 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: 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: 4359
Gene Symbol: MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
Biomarker
MGD
Monocyte chemoattractant protein-1 is a pathogenic component in a model for a hereditary peripheral neuropathy.
18326085 2008