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
A 0.820 CausalMutation CLINVAR MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. 22689911

2012
dbSNP: rs121913590
rs121913590
MPZ
A 0.820 CausalMutation CLINVAR Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. 8797476

1996
dbSNP: rs121913590
rs121913590
MPZ
A 0.820 CausalMutation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011
dbSNP: rs121913590
rs121913590
MPZ
A 0.820 CausalMutation CLINVAR De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B. 9168174

1997
dbSNP: rs121913590
rs121913590
MPZ
A 0.820 CausalMutation CLINVAR 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
dbSNP: rs121913590
rs121913590
MPZ
A 0.820 CausalMutation CLINVAR Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes. 20461396

2010
dbSNP: rs121913590
rs121913590
MPZ
A 0.820 CausalMutation CLINVAR Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. 11438991

2001
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
A 0.820 CausalMutation CLINVAR R98C mice, an authentic model of early onset Charcot-Marie-Tooth disease type 1B, develop neuropathy in part because the misfolded mutant myelin protein zero is retained in the endoplasmic reticulum where it activates the unfolded protein response. 23250879

2012
dbSNP: rs121913590
rs121913590
MPZ
A 0.820 CausalMutation CLINVAR 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: rs121913590
rs121913590
MPZ
A 0.820 CausalMutation CLINVAR To evaluate sural nerve biopsy samples from a patient with early-onset Charcot-Marie-Tooth disease type 1B caused by an arg69-to-cys (R69C) mutation. 17172621

2006
dbSNP: rs121913590
rs121913590
MPZ
A 0.820 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
dbSNP: rs121913590
rs121913590
MPZ
A 0.820 CausalMutation CLINVAR Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. 19293842

2009
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: 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
A 0.810 CausalMutation CLINVAR Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. 7527371

1994
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
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 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
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
dbSNP: rs121913601
rs121913601
MPZ
A 0.810 CausalMutation CLINVAR 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
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: rs121913583
rs121913583
MPZ
C 0.800 CausalMutation CLINVAR

dbSNP: rs121913584
rs121913584
MPZ
T 0.800 CausalMutation CLINVAR Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. 7693129

1993