MPZ, myelin protein zero, 4359

N. diseases: 249; N. variants: 88
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913590
rs121913590
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		0.820 GeneticVariation UNIPROT Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. 8797476 1996
dbSNP: rs121913590
rs121913590
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		0.820 GeneticVariation UNIPROT Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients. 7504284 1993
dbSNP: rs121913590
rs121913590
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		0.820 GeneticVariation UNIPROT Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. 7530774 1994
dbSNP: rs121913590
rs121913590
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		0.820 GeneticVariation UNIPROT Peripheral myelin modification in CMT1B correlates with MPZ gene mutations. 10545037 1999
dbSNP: rs121913590
rs121913590
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		0.820 GeneticVariation UNIPROT Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. 7694726 1993
dbSNP: rs121913590
rs121913590
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		0.820 GeneticVariation UNIPROT Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. 18337304 2008
dbSNP: rs121913590
rs121913590
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		0.820 GeneticVariation UNIPROT Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). 9452099 1998
dbSNP: rs121913590
rs121913590
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		0.820 GeneticVariation BEFREE 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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		0.820 GeneticVariation UNIPROT Mutations of the same sequence of the myelin P0 gene causing two different phenotypes. 9452091 1998
dbSNP: rs121913590
rs121913590
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		0.820 GeneticVariation UNIPROT Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. 7693129 1993
dbSNP: rs121913590
rs121913590
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		0.820 GeneticVariation BEFREE Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ. 30785048 2019
dbSNP: rs121913590
rs121913590
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0270912
Disease:
Charcot-Marie-Tooth Disease, Type Ib 		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: rs121913586
rs121913586
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		0.810 GeneticVariation UNIPROT Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. 8816708 1996
dbSNP: rs121913586
rs121913586
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		0.810 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. 11438991 2001
dbSNP: rs121913586
rs121913586
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0011195
Disease:
Dejerine-Sottas Disease (disorder) 		0.810 GeneticVariation UNIPROT De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). 7506095 1993