Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 8898
Gene Symbol: MTMR2
MTMR2
0.200 Biomarker disease MGD An animal model for Charcot-Marie-Tooth disease type 4B1. 16249189 2005
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: 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: 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 Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels. 22144914 2011
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: 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: 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 Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. 7581451 1995
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: 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: 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