Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 1959
Gene Symbol: EGR2
EGR2 		0.200 Biomarker disease MGD Nab proteins are essential for peripheral nervous system myelination. 16136673 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
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: 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: 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: 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: 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: 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: 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: 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: 2705
Gene Symbol: GJB1
GJB1 		0.200 Biomarker disease MGD Connexin32-null mice develop demyelinating peripheral neuropathy. 9700485 1998
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		0.200 Biomarker disease 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 		0.200 Biomarker disease 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 		0.200 Biomarker disease MGD Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. 11389829 2001
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.200 Biomarker disease MGD Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. 10579712 1999
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.200 Biomarker disease 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: 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: 9927
Gene Symbol: MFN2
MFN2 		0.200 Biomarker disease MGD
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: 4359
Gene Symbol: MPZ
MPZ 		0.200 Biomarker disease MGD Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. 1384988 1992
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: 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