Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. 19293842

2009
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. 15004559

2004
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 11835375

2002
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR The Roussy-Lévy family: from the original description to the gene. 10553995

1999
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.110 GeneticVariation CLINVAR Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. 9595994

1998