Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Hereditary Motor and Sensory Neuropathies
0.600 Biomarker 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: 4359
Gene Symbol: MPZ
MPZ
Hereditary Motor and Sensory Neuropathies
0.600 Biomarker 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
Hereditary Motor and Sensory Neuropathies
0.600 Biomarker 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
Hereditary Motor and Sensory Neuropathies
0.600 Biomarker MGD Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. 17701891

2007

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathies
0.600 Biomarker 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: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathies
0.600 Biomarker MGD Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model. 15748170

2005

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathies
0.600 Biomarker MGD Altered ion channels in an animal model of Charcot-Marie-Tooth disease type IA. 15703401

2005

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathies
0.600 Biomarker MGD Nerve conduction abnormalities in the trembler-j mouse: a model for Charcot-Marie-Tooth disease type 1A? 15363066

2004

Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Hereditary Motor and Sensory Neuropathies
0.600 Biomarker MGD Abnormal Schwann cell/axon interactions in the Trembler-J mouse. 9147228

1997

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Hereditary Motor and Sensory Neuropathies
0.600 Biomarker 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
Hereditary Motor and Sensory Neuropathies
0.600 Biomarker MGD Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. 1384988

1992

Entrez Id: 1959
Gene Symbol: EGR2
EGR2
Hereditary Motor and Sensory Neuropathies
0.500 Biomarker MGD Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation. 19244508

2009

Entrez Id: 1959
Gene Symbol: EGR2
EGR2
Hereditary Motor and Sensory Neuropathies
0.500 Biomarker 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
Hereditary Motor and Sensory Neuropathies
0.500 Biomarker MGD Nab proteins are essential for peripheral nervous system myelination. 16136673

2005

Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Hereditary Motor and Sensory Neuropathies
0.310 Biomarker 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: 2705
Gene Symbol: GJB1
GJB1
Hereditary Motor and Sensory Neuropathies
0.270 Biomarker MGD Connexin32-null mice develop demyelinating peripheral neuropathy. 9700485

1998

Entrez Id: 2705
Gene Symbol: GJB1
GJB1
Hereditary Motor and Sensory Neuropathies
0.270 Biomarker 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
Hereditary Motor and Sensory Neuropathies
0.270 Biomarker MGD Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice. 8790370

1996

Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
Hereditary Motor and Sensory Neuropathies
0.250 Biomarker MGD Ndrg1 in development and maintenance of the myelin sheath. 21303696

2011

Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
Hereditary Motor and Sensory Neuropathies
0.250 Biomarker MGD Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves. 15082788

2004

Entrez Id: 9927
Gene Symbol: MFN2
MFN2
Hereditary Motor and Sensory Neuropathies
0.240 Biomarker MGD

Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
Hereditary Motor and Sensory Neuropathies
0.230 Biomarker MGD An animal model for Charcot-Marie-Tooth disease type 4B1. 16249189

2005

Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
Hereditary Motor and Sensory Neuropathies
0.230 Biomarker MGD Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. 15557122

2004

Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
Hereditary Motor and Sensory Neuropathies
0.230 Biomarker MGD Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. 11389829

2001

Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
Hereditary Motor and Sensory Neuropathies
0.220 Biomarker MGD Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy. 25860513

2015