Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 Biomarker CTD_human

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation CLINVAR

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 CausalMutation CLINVAR 3rd workshop of the European CMT consortium: 54th ENMC International Workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies 28-30 November 1997, Naarden, The Netherlands. 10093067

1998

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation 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
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation BEFREE 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
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation BEFREE Charcot-Marie-Tooth disease type 1B is associated with mutations in the myelin protein zero gene. 17143884

2007

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
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
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
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
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation BEFREE Myelin protein zero gene (MPZ) mutations usually cause a demyelinating variant of Charcot-Marie-Tooth disease type 1B (CMT1B), but there is a wide spectrum of phenotypic manifestation of these mutations. 18663734

2008

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
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
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
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
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
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation UNIPROT A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths. 10214757

1999

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 CausalMutation CLINVAR A novel mutation of the myelin P(o) gene segregating Charcot-Marie-Toothdisease type 1B manifesting as trigeminal nerve thickening. 10475757

1999

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation 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
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
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation BEFREE A point mutation (Arg98-->Cys) of exon 3 coding for the extracellular domain of the myelin protein zero (P0) gene was found in a sporadic case of an eighteen year old Japanese man with a severe variant of Charcot-Marie-Tooth disease type 1B (CMT1B). 9168174

1997

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

2010