Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913590
rs121913590
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
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
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		A 0.820 CausalMutation CLINVAR 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
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
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
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
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
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
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
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
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
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
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
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
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
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		A 0.820 CausalMutation CLINVAR To evaluate sural nerve biopsy samples from a patient with early-onset Charcot-Marie-Tooth disease type 1B caused by an arg69-to-cys (R69C) mutation. 17172621

2006
dbSNP: rs121913590
rs121913590
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
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
MPZ
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		A 0.820 CausalMutation CLINVAR Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. 8797476

1996