Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.200 Biomarker disease 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: 55526
Gene Symbol: DHTKD1
DHTKD1
0.200 Biomarker disease MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920 2018
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
0.200 Biomarker disease 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: 54332
Gene Symbol: GDAP1
GDAP1
0.200 Biomarker disease MGD Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy. 25860513 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.200 Biomarker disease 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: 1337
Gene Symbol: COX6A1
COX6A1
0.200 Biomarker disease 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
0.200 Biomarker disease 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: 121512
Gene Symbol: FGD4
FGD4
0.200 Biomarker disease MGD Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. 23171661 2012
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.200 Biomarker disease MGD MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. 22689911 2012
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
0.200 Biomarker disease MGD Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. 22581779 2012
Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
0.200 Biomarker disease MGD Ndrg1 in development and maintenance of the myelin sheath. 21303696 2011
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
0.200 Biomarker disease 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
0.200 Biomarker disease MGD Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation. 19244508 2009
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
0.200 Biomarker disease 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
0.200 Biomarker disease 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: 4359
Gene Symbol: MPZ
MPZ
0.200 Biomarker disease MGD Monocyte chemoattractant protein-1 is a pathogenic component in a model for a hereditary peripheral neuropathy. 18326085 2008
Entrez Id: 81846
Gene Symbol: SBF2
SBF2
0.200 Biomarker disease 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: 5376
Gene Symbol: PMP22
PMP22
0.200 Biomarker disease 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: 9896
Gene Symbol: FIG4
FIG4
0.200 Biomarker disease MGD Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665 2007
Entrez Id: 81846
Gene Symbol: SBF2
SBF2
0.200 Biomarker disease MGD Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 17855448 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.200 Biomarker disease MGD Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. 17701891 2007
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
0.200 Biomarker disease MGD An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. 16982418 2006
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.200 Biomarker disease MGD Nab proteins are essential for peripheral nervous system myelination. 16136673 2005
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.200 Biomarker disease MGD Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA. 15703401 2005
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
0.200 Biomarker disease MGD Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination. 15695336 2005