Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628 2015
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene. 23290023 2013
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889 2011
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. 19293842 2009
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype LHGDN Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family. 17825553 2008
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene. 17663472 2007
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. 15004559 2004
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. 14638973 2003
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375 2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR "Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible ""hotspot"" on Thr124Met." 10764043 2000
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). 11080237 2000
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR The Roussy-Lévy family: from the original description to the gene. 10553995 1999
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. 10406984 1999
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. 10071056 1999
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 GeneticVariation phenotype CLINVAR Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. 9595994 1998
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
0.110 Biomarker phenotype HPO