×
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: 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
×
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
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy.
17701891 2007
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
Biomarker
MGD
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
22689911 2012
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
Biomarker
MGD
Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A?
15363066 2004
×
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: 4359
Gene Symbol: MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
Biomarker
MGD
Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies.
7581451 1995
×
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Dejerine-Sottas Disease (disorder)
1.000
Biomarker
MGD
Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.
1384988 1992
×
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Dejerine-Sottas Disease (disorder)
1.000
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: 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: 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: 1959
Gene Symbol: EGR2
EGR2
Dejerine-Sottas Disease (disorder)
0.940
Biomarker
MGD
Nab proteins are essential for peripheral nervous system myelination.
16136673 2005
×
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
Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32.
9169515 1997
×
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: 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: 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
An animal model for Charcot-Marie-Tooth disease type 4B1.
16249189 2005
×
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: 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: 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: 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: 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