Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. 7693130 1993
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 Biomarker disease CTD_human
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. 7693129 1993
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin. 15036333 2004
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths. 10214757 1999
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Novel mutation of the myelin P0 gene in a CMT1B family. 8990016 1997
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. 8797476 1996
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth type 1B neuropathy: third mutation of serine 63 codon in the major peripheral myelin glycoprotein PO gene. 8835320 1995
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1. 12497641 2003
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease type 1B (CMT 1B) is caused by mutations in the gene coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion and compaction of peripheral myelin. 12845552 2003
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1). 9452099 1998
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Clinical and genetic analysis of CMT1B in a Nigerian family. 12707985 2003
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Charcot-Marie-Tooth type 1B neuropathy: a mutation at the single glycosylation site in the major peripheral myelin glycoprotein Po. 8844219 1996
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. 7530774 1994
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease 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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease 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
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. 18337304 2008
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Phenotypic clustering in MPZ mutations. 14711881 2004
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation. 12221176 2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT The same MPZ locus cosegregates with the CMT1B disease gene in a second CMT1B family [total multipoint logarithm of odds (lod) = 11.4 at theta = 0.00] with a splice junction mutation. 7504284 1993
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		1.000 GeneticVariation disease UNIPROT Novel mutation of the myelin Po gene in a pedigree with Charcot-Marie-Tooth disease type 1B. 9217235 1997