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 GeneticVariation UNIPROT Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. 18337304

2008

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation 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
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 UNIPROT Phenotypic clustering in MPZ mutations. 14711881

2004

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation UNIPROT Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 12497641

2003

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 UNIPROT Clinical and genetic analysis of CMT1B in a Nigerian family. 12707985

2003

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation 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
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation 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
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation UNIPROT Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation. 12221176

2002

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation 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
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002

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 GeneticVariation 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
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation 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
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation UNIPROT Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. 10737979

2000

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation UNIPROT Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. 10965800

2000

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 GeneticVariation UNIPROT Peripheral myelin modification in CMT1B correlates with MPZ gene mutations. 10545037

1999

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation UNIPROT Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). 9452099

1998

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation UNIPROT Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. 9633821

1998

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation UNIPROT Mutations of the same sequence of the myelin P0 gene causing two different phenotypes. 9452091

1998

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation UNIPROT Novel mutation of the myelin P0 gene in a CMT1B family. 8990016

1997

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation UNIPROT Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. 9187667

1997

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
Charcot-Marie-Tooth Disease, Type Ib
1.000 GeneticVariation UNIPROT Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B. 9217235

1997