Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. 18337304 2008
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B. 16488608 2006
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin. 15036333 2004
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Phenotypic clustering in MPZ mutations. 14711881 2004
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 12497641 2003
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease type 1B (CMT 1B) is caused by mutations in the gene coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion and compaction of peripheral myelin. 12845552 2003
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Clinical and genetic analysis of CMT1B in a Nigerian family. 12707985 2003
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. 12477701 2003
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 12402337 2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation. 12221176 2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. 12207932 2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375 2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B. 11445635 2001
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity. 11437164 2001
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. 11438991 2001
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. 10737979 2000