Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 12497641

2003
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE Mutations in P0, the major protein of the myelin sheath in peripheral nerves, cause the inherited peripheral neuropathies Charcot-Marie-Tooth disease type 1B (CMT1B), Dejerine-Sottas syndrome (DSS) and congenital hypomyelination (CH). 12450416

2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation UNIPROT Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. 12402337

2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		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: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		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: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation UNIPROT Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. 11438991

2001
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		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: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		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: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE Mutations in the gene for the peripheral myelin protein zero (P0, MPZ) cause type 1B of Charcot-Marie-Tooth sensorimotor neuropathy (CMT1B). 11701152

2001
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. 11438991

2001
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation UNIPROT Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. 10737979

2000
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation BEFREE Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. 10965800

2000
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 Biomarker BEFREE Mutations in the gene for the major protein component of peripheral nerve myelin, myelin protein zero (MPZ, P0), cause hereditary disorders of Schwann cell myelin such as Charcot-Marie-Tooth neuropathy type 1B (CMT1B), Dejerine-Sottas syndrome (DSS), and congenital hypomyelinating neuropathy (CHN). 10764043

2000
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. 10737979

2000
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. 10965800

2000
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation UNIPROT Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero. 10965800

2000
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation UNIPROT A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths. 10214757

1999
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR A novel mutation of the myelin P(o) gene segregating Charcot-Marie-Toothdisease type 1B manifesting as trigeminal nerve thickening. 10475757

1999
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation UNIPROT Peripheral myelin modification in CMT1B correlates with MPZ gene mutations. 10545037

1999
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation UNIPROT Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). 9452099

1998
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation UNIPROT Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. 9633821

1998