Source: ALL
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 Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. 1384988 1992
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 An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. 16982418 2006
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: 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: 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: 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: 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: 55526
Gene Symbol: DHTKD1
DHTKD1 		0.200 Biomarker disease MGD DHTKD1 Deficiency Causes Charcot-Marie-Tooth Disease in Mice. 29661920 2018
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: 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: 8898
Gene Symbol: MTMR2
MTMR2 		0.200 Biomarker disease MGD Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. 15557122 2004
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.200 Biomarker disease 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 		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: 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: 10397
Gene Symbol: NDRG1
NDRG1 		0.200 Biomarker disease MGD Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves. 15082788 2004
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: 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: 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: 5376
Gene Symbol: PMP22
PMP22 		0.200 Biomarker disease MGD Abnormal Schwann cell/axon interactions in the Trembler-J mouse. 9147228 1997
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: 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: 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: 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: 9990
Gene Symbol: SLC12A6
SLC12A6 		0.200 Biomarker disease MGD Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. 14532115 2003