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 Biomarker CTD_human

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 GENOMICS_ENGLAND

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 GENOMICS_ENGLAND

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 GENOMICS_ENGLAND

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 CLINVAR

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 MGD Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. 1384988

1992
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 The localization of the MPZ gene coincides with the locus for Charcot-Marie-Tooth disease type 1B, determined by linkage analysis. 7503936

1993
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 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
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation 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
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 GeneticVariation UNIPROT New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1. 7505151

1993
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 While mutation in the gene encoding the major myelin protein, P0 has been associated with CMT1B, CMT1A and HNPP have been shown to be associated with reciprocal recombination events leading either to a large submicroscopic duplication in CMT1A, or the corresponding DNA deletion in HNPP. 7515304

1994
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 Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. 7527371

1994
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 Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. 7527371

1994
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 Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B. 7530774

1994
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 Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B. 7550231

1995
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 myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B. 7550231

1995
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 MGD Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. 7581451

1995
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 of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1. 7688964

1993
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 of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1. 7688964

1993
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 neuropathy type 1B is associated with mutations of the myelin P0 gene. 7693129

1993
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 type 1B is associated with mutations of the myelin P0 gene. 7693129

1993
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 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
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 Biomarker BEFREE 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
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		1.000 CausalMutation CLINVAR Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. 7694726

1993
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 of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. 7694726

1993