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 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 Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011

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 Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. 19293842

2009

dbSNP: rs121913590
rs121913590
MPZ
0.820 GeneticVariation UNIPROT Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. 18337304

2008

dbSNP: rs121913590
rs121913590
MPZ
0.820 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: 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
0.820 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: 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
0.820 GeneticVariation UNIPROT Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 12402337

2002

dbSNP: rs121913590
rs121913590
MPZ
0.820 GeneticVariation UNIPROT Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. 12207932

2002

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
0.820 GeneticVariation UNIPROT Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. 10965800

2000

dbSNP: rs121913590
rs121913590
MPZ
0.820 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: rs121913590
rs121913590
MPZ
0.820 GeneticVariation UNIPROT Peripheral myelin modification in CMT1B correlates with MPZ gene mutations. 10545037

1999

dbSNP: rs121913590
rs121913590
MPZ
0.820 GeneticVariation UNIPROT Mutations of the same sequence of the myelin P0 gene causing two different phenotypes. 9452091

1998

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
0.820 GeneticVariation UNIPROT Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). 9452099

1998

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
0.820 GeneticVariation UNIPROT Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B. 9217235

1997

dbSNP: rs121913590
rs121913590
MPZ
0.820 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

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
0.820 GeneticVariation UNIPROT Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. 8797476

1996