DisGeNET - a database of gene-disease associations

Charcot-Marie-Tooth Disease, Type Ib, C0270912

Gene: MPZ ×

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs863225025

MPZ

0.700

CausalMutation

CLINVAR

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.

24444136

2014

dbSNP:

rs863225026

MPZ

0.700

CausalMutation

CLINVAR

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

25614874

2014

dbSNP:

rs863225025

MPZ

0.700

CausalMutation

CLINVAR

Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.

24053775

2013

dbSNP:

rs1060503418

MPZ

0.700

GeneticVariation

UNIPROT

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

18337304

2008

dbSNP:

rs121913596

MPZ

0.700

GeneticVariation

UNIPROT

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

18337304

2008

dbSNP:

rs121913602

MPZ

0.700

GeneticVariation

UNIPROT

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

18337304

2008

dbSNP:

rs1553259647

MPZ

0.700

GeneticVariation

UNIPROT

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

18337304

2008

dbSNP:

rs1553259662

MPZ

0.700

GeneticVariation

UNIPROT

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

18337304

2008

dbSNP:

rs1553259707

MPZ

0.700

GeneticVariation

UNIPROT

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

18337304

2008

dbSNP:

rs1553259760

MPZ

0.700

GeneticVariation

UNIPROT

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

18337304

2008

dbSNP:

rs1553259790

MPZ

0.700

GeneticVariation

UNIPROT

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

18337304

2008

dbSNP:

rs572010627

MPZ

0.700

GeneticVariation

UNIPROT

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

18337304

2008

dbSNP:

rs1060503418

MPZ

0.700

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:

rs121913596

MPZ

0.700

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:

rs121913602

MPZ

0.700

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:

rs1553259647

MPZ

0.700

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:

rs1553259662

MPZ

0.700

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:

rs1553259707

MPZ

0.700

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:

rs1553259760

MPZ

0.700

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:

rs1553259790

MPZ

0.700

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:

rs572010627

MPZ

0.700

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:

rs1060503418

MPZ

0.700

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:

rs121913596

MPZ

0.700

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:

rs121913602

MPZ

0.700

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:

rs1553259647

MPZ

0.700

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