Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 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: 5376
Gene Symbol: PMP22
PMP22
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.800 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: 2705
Gene Symbol: GJB1
GJB1
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. 9169515

1997
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker 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: 4359
Gene Symbol: MPZ
MPZ
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.900 Biomarker MGD Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. 7581451

1995
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.800 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: 9896
Gene Symbol: FIG4
FIG4
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.500 Biomarker MGD Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. 22581779

2012
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker 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: 5376
Gene Symbol: PMP22
PMP22
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.800 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: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Ndrg1-deficient mice exhibit a progressive demyelinating disorder of peripheral nerves. 15082788

2004
Entrez Id: 10397
Gene Symbol: NDRG1
NDRG1
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Ndrg1 in development and maintenance of the myelin sheath. 21303696

2011
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Nab proteins are essential for peripheral nervous system myelination. 16136673

2005
Entrez Id: 121512
Gene Symbol: FGD4
FGD4
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. 23171661

2012
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.500 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: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 17855448

2007
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.900 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
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.900 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: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.900 Biomarker MGD Monocyte chemoattractant protein-1 is a pathogenic component in a model for a hereditary peripheral neuropathy. 18326085

2008
Entrez Id: 81846
Gene Symbol: SBF2
SBF2
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker 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: 90678
Gene Symbol: LRSAM1
LRSAM1
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.500 Biomarker 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: 9990
Gene Symbol: SLC12A6
SLC12A6
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. 14532115

2003
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. 10579712

1999
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy. 25860513

2015
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.800 Biomarker MGD Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model. 15748170

2005
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		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