Gene: MPZ ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913590
rs121913590
MPZ
0.820 GeneticVariation UNIPROT Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. 8816708

1996
dbSNP: rs121913590
rs121913590
MPZ
A 0.820 CausalMutation CLINVAR High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients. 8644725

1996
dbSNP: rs121913590
rs121913590
MPZ
0.820 GeneticVariation UNIPROT Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po. 8844219

1996
dbSNP: rs121913590
rs121913590
MPZ
A 0.820 CausalMutation CLINVAR Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. 8816708

1996
dbSNP: rs121913590
rs121913590
MPZ
0.820 GeneticVariation UNIPROT Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. 7530774

1994
dbSNP: rs121913590
rs121913590
MPZ
0.820 GeneticVariation UNIPROT Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. 7693129

1993
dbSNP: rs121913590
rs121913590
MPZ
0.820 GeneticVariation UNIPROT New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1. 7505151

1993
dbSNP: rs121913590
rs121913590
MPZ
0.820 GeneticVariation UNIPROT Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients. 7504284

1993
dbSNP: rs121913590
rs121913590
MPZ
0.820 GeneticVariation UNIPROT Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. 7694726

1993
dbSNP: rs121913601
rs121913601
MPZ
0.810 GeneticVariation UNIPROT Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. 18337304

2008
dbSNP: rs121913601
rs121913601
MPZ
A 0.810 CausalMutation CLINVAR Charcot-Marie-Tooth disease type 1B: marked phenotypic variation of the Ser78Leu mutation in five Italian families. 18422810

2008
dbSNP: rs121913601
rs121913601
MPZ
0.810 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
dbSNP: rs121913601
rs121913601
MPZ
0.810 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
dbSNP: rs121913601
rs121913601
MPZ
A 0.810 CausalMutation CLINVAR Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 12497641

2003
dbSNP: rs121913601
rs121913601
MPZ
0.810 GeneticVariation UNIPROT Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 12402337

2002
dbSNP: rs121913601
rs121913601
MPZ
0.810 GeneticVariation UNIPROT Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. 12207932

2002
dbSNP: rs121913601
rs121913601
MPZ
A 0.810 CausalMutation CLINVAR Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002
dbSNP: rs121913601
rs121913601
MPZ
A 0.810 CausalMutation CLINVAR 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
dbSNP: rs121913601
rs121913601
MPZ
0.810 GeneticVariation UNIPROT The report adds Ser49Leu to the mutations of P0ex associated with focally folded myelin and provides strong evidence that such a structural alteration of the myelin sheath reflects a distinct pathogenetic mechanism in a subgroup of CMT1B. 10965800

2000
dbSNP: rs121913601
rs121913601
MPZ
A 0.810 CausalMutation CLINVAR The report adds Ser49Leu to the mutations of P0ex associated with focally folded myelin and provides strong evidence that such a structural alteration of the myelin sheath reflects a distinct pathogenetic mechanism in a subgroup of CMT1B. 10965800

2000
dbSNP: rs121913601
rs121913601
MPZ
0.810 GeneticVariation UNIPROT Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. 10737979

2000
dbSNP: rs121913601
rs121913601
MPZ
0.810 GeneticVariation UNIPROT Peripheral myelin modification in CMT1B correlates with MPZ gene mutations. 10545037

1999
dbSNP: rs121913601
rs121913601
MPZ
0.810 GeneticVariation UNIPROT Mutations of the same sequence of the myelin P0 gene causing two different phenotypes. 9452091

1998
dbSNP: rs121913601
rs121913601
MPZ
A 0.810 CausalMutation CLINVAR Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. 9633821

1998
dbSNP: rs121913601
rs121913601
MPZ
A 0.810 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