Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Mutations in the gene MPZ, encoding myelin protein zero (MPZ), cause inherited neuropathies collectively called Charcot-Marie-Tooth type 1B (CMT1B). 18337304

2008

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Charcot-Marie-Tooth type 1B disease is a demyelinating neuropathy caused by mutations in the Myelin Protein Zero gene. 15036333

2004

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Phenotypic clustering in MPZ mutations. 14711881

2004

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family. 12845552

2003

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT We constructed denaturing gradient gel electrophoresis (DGGE) analysis as a screening method for PMP22, MPZ, and Cx32 mutations and studied 161 CMT patients without CMT1A duplication. 12402337

2003

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Furthermore sequence variations of PMP22, myelin protein zero (MPZ) and the gap junction protein b 1 gene (GJB1 or Connexin 32) may cause a variety of distinct CMT phenotypes. 12497641

2003

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT DGGE analysis was sensitive for screening for those gene mutations, but causative gene mutation was not identified in many of the Japanese patients with CMT, especially with CMT1. 12402337

2003

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Three genes commonly causing Charcot-Marie-Tooth disease (CMT) encode myelin-related proteins: peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin 32 (Cx32). 12477701

2003

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Charcot-Marie-Tooth disease (CMT) is a heterogeneous disorder and is traditionally classified into two major types, CMT type 1 (CMT1) and CMT type 2 (CMT2). 12402337

2003

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Clinical and genetic analysis of CMT1B in a Nigerian family. 12707985

2003

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 12402337

2003

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT In the process of screening the above cohort of patients as well as other patients for CMT-causative mutations, we identified several previously unreported mutant alleles: two for connexin 32, three for myelin protein zero, and two for peripheral myelin protein 22. 11835375

2002

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disorder that has been associated with alterations of several proteins: peripheral myelin protein 22, myelin protein zero, connexin 32, early growth response factor 2, periaxin, myotubularin related protein 2, N-myc downstream regulated gene 1 product, neurofilament light chain, and kinesin 1B. 11835375

2002

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation. 12221176

2002

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT To determine the frequency of mutations in these genes among patients with CMT or a related peripheral neuropathy, we identified 153 unrelated patients who enrolled prior to the availability of clinical testing, 79 had a 17p12 duplication (CMT1A duplication), 11 a connexin 32 mutation, 5 a myelin protein zero mutation, 5 a peripheral myelin protein 22 mutation, 1 an early growth response factor 2 mutation, 1 a periaxin mutation, 0 a myotubularin related protein 2 mutation, 1 a neurofilament light chain mutation, and 50 had no identifiable mutation; the N-myc downstream regulated gene 1 and the kinesin 1B gene were not screened for mutations. 11835375

2002

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Charcot-Marie-Tooth neuropathy type 1 (CMT1), the most common hereditary neurological disorder in humans, is characterized by clinical and genetic heterogeneity. 11438991

2001

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. 10965800

2001

Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
1.000 GeneticVariation UNIPROT The unrelated CMT patients included 108 clinically and electrophysiologically diagnosed CMT1 cases, 32 CMT2 cases, and 34 cases with unspecified CMT. 10737979

2000