Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
0.200 Biomarker disease MGD
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 Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. 7581451 1995
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: 5376
Gene Symbol: PMP22
PMP22
0.200 Biomarker disease MGD Abnormal Schwann cell/axon interactions in the Trembler-J mouse. 9147228 1997
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 Connexin32-null mice develop demyelinating peripheral neuropathy. 9700485 1998
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: 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 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: 9990
Gene Symbol: SLC12A6
SLC12A6
0.200 Biomarker disease MGD The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. 12368912 2002
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
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: 5376
Gene Symbol: PMP22
PMP22
0.200 Biomarker disease MGD Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A? 15363066 2004
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: 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: 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: 5376
Gene Symbol: PMP22
PMP22
0.200 Biomarker disease MGD Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model. 15748170 2005
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: 8898
Gene Symbol: MTMR2
MTMR2
0.200 Biomarker disease MGD An animal model for Charcot-Marie-Tooth disease type 4B1. 16249189 2005
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: 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: 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: 81846
Gene Symbol: SBF2
SBF2
0.200 Biomarker disease MGD Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 17855448 2007