Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 2617
Gene Symbol: GARS1
GARS1
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model. 16982418

2006
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: 1959
Gene Symbol: EGR2
EGR2
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination. 15695336

2005
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD An animal model for Charcot-Marie-Tooth disease type 4B1. 16249189

2005
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. 15557122

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: 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: 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: 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
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. 11389829

2001
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: 2705
Gene Symbol: GJB1
GJB1
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Connexin32-null mice develop demyelinating peripheral neuropathy. 9700485

1998
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: 2705
Gene Symbol: GJB1
GJB1
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD Defective propagation of signals generated by sympathetic nerve stimulation in the liver of connexin32-deficient mice. 8790370

1996
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		0.200 Biomarker MGD