Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 Biomarker disease MGD A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function. 30239779 2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity. 29670817 2018
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing. 27639257 2017
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene? 27088055 2016
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 GeneticVariation disease BEFREE MPZ mutations are the second leading cause of Charcot-Marie-Tooth disease type 1. 26310628 2015
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation. 25694466 2015
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 GeneticVariation disease CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628 2015
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628 2015
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease. 26454100 2015
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation. 26234237 2015
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 GeneticVariation disease CLINVAR Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 25429913 2014
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874 2014
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients. 23649551 2014
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease. 24819634 2014
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. 25429913 2014
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Two novel MPZ mutations in Chinese CMT patients. 24028194 2013
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene. 23290023 2013
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 Biomarker disease 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 		0.700 CausalMutation disease CLINVAR 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 		0.700 CausalMutation disease CLINVAR Myelin protein zero Arg36Gly mutation with very late onset and rapidly progressive painful neuropathy. 23279346 2012
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Gain of glycosylation: a new pathomechanism of myelin protein zero mutations. 22451207 2012
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene. 21504504 2011
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 GeneticVariation disease CLINVAR [Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene]. 22433810 2011
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 GeneticVariation disease CLINVAR Congenital hypomyelinating neuropathy due to a novel MPZ mutation. 22176150 2011
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		0.700 CausalMutation disease CLINVAR [Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene]. 22433810 2011