Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.240 Biomarker MGD

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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: 4359
Gene Symbol: MPZ
MPZ
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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: 2705
Gene Symbol: GJB1
GJB1
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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: 5376
Gene Symbol: PMP22
PMP22
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.600 Biomarker MGD Abnormal Schwann cell/axon interactions in the Trembler-J mouse. 9147228

1997
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.270 Biomarker MGD Connexin32-null mice develop demyelinating peripheral neuropathy. 9700485

1998
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.200 Biomarker MGD Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. 10579712

1999
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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: 9990
Gene Symbol: SLC12A6
SLC12A6
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.220 Biomarker MGD The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. 12368912

2002
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.200 Biomarker 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
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.220 Biomarker MGD Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. 14532115

2003
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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: 10397
Gene Symbol: NDRG1
NDRG1
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.250 Biomarker MGD Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves. 15082788

2004
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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: 5376
Gene Symbol: PMP22
PMP22
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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: 1959
Gene Symbol: EGR2
EGR2
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.500 Biomarker MGD Nab proteins are essential for peripheral nervous system myelination. 16136673

2005
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.230 Biomarker MGD An animal model for Charcot-Marie-Tooth disease type 4B1. 16249189

2005
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.210 Biomarker 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
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
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: 9896
Gene Symbol: FIG4
FIG4
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.210 Biomarker MGD Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665

2007
Entrez Id: 81846
Gene Symbol: SBF2
SBF2
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		0.200 Biomarker MGD Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 17855448

2007