Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. 8797476 1996
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po. 8844219 1996
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Mutations in the MPZ gene are associated with the demyelinating peripheral neuropathies Charcot-Marie-Tooth disease type 1B (CMT1B), and the more severe Dejerine-Sottas syndrome (DSS). 8664899 1996
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. 8816708 1996
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene. 8835320 1995
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B. 7550231 1995
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. 7530774 1994
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. 7527371 1994
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. 7693130 1993
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. 7693129 1993
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT The same MPZ locus cosegregates with the CMT1B disease gene in a second CMT1B family [total multipoint logarithm of odds (lod) = 11.4 at theta = 0.00] with a splice junction mutation. 7504284 1993
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1. 7688964 1993
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1. 7505151 1993
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. 7694726 1993
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 Biomarker disease CTD_human
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 22880
Gene Symbol: MORC2
MORC2 		0.300 Biomarker disease CTD_human Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2. 28581500 2017
Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46 		0.300 Biomarker disease CTD_human Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. 26168012 2015
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4 		0.300 Biomarker disease CTD_human Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth. 22187434 2012
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.300 Biomarker disease CTD_human Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. 20865121 2010
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.300 Biomarker disease CTD_human Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. 19427269 2009
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		0.300 Biomarker disease CTD_human Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.300 Biomarker disease CTD_human Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. 17303424 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.300 Biomarker disease CTD_human Myoclonic seizures in a patient with Charcot-Marie-tooth disease. 17275665 2007
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10 		0.300 Biomarker disease CTD_human A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. 15146389 2004