Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 Biomarker 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
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ. 30785048

2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 Biomarker BEFREE Here, we used a mouse model of Charcot-Marie-Tooth neuropathy type 1B (CMT1B), the P0S63del mouse characterized by ER stress and the activation of the unfolded protein response, to show that adult Schwann cells are in a partial differentiation state because they overexpress transcription factors that are normally expressed only before myelination. 29610440

2018
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B. 29687021

2018
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B). 29034895

2017
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b. 27344971

2016
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE Genetic testing was performed in all patients and/or in first- or second-degree relatives to document mutation in MPZ gene indicating diagnosis of Charcot-Marie-Tooth disease type 1B. 26310628

2015
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation 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
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation 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
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations. 24444136

2014
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. 24053775

2013
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE Charcot-Marie-Tooth disease, type 1B (CMT1B, OMIM 118200) is an autosomal dominant neuropathy caused by mutations in myelin protein zero (MPZ, OMIM 159440), a structural protein of peripheral myelin. 23811036

2013
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies. 21940171

2012
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE Charcot-Marie-Tooth disease type 1B is caused by mutations in myelin protein zero. 23250879

2012
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE This study expanded the spectrum of the MPZ mutations and revealed two disparate mechanisms of MPZ mutations associated with a typical CMT1B phenotype. 22018721

2012
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Mutations in myelin protein zero (MPZ) cause Charcot-Marie-Tooth disease type 1B. 22689911

2012
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 Biomarker MGD Mutations in myelin protein zero (MPZ) cause Charcot-Marie-Tooth disease type 1B. 22689911

2012
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. 23250879

2012
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE Charcot-Marie-Tooth disease type 1B (CMT1B) and Déjerine-Sottas syndrome type B (DSSB) are caused by missense or frameshift mutations of myelin protein zero (MPZ) gene. 21504504

2011
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE MPZ mutation in an early-onset Charcot-Marie-Tooth disease type 1B family by genome-wide linkage analysis. 21503568

2011
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Asymmetric phenotype associated with rare myelin protein zero mutation. 20215982

2010
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes. 20461396

2010
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. 19293842

2009