Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913595
rs121913595
MPZ
A 0.700 CausalMutation CLINVAR Parasympathetic Dominant Autonomic Dysfunction in Charcot-Marie-Tooth Disease Type 2J with the MPZ Thr124Met Mutation. 26234237

2015
dbSNP: rs121913595
rs121913595
MPZ
A 0.700 CausalMutation CLINVAR Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes. 20461396

2010
dbSNP: rs121913595
rs121913595
MPZ
A 0.700 CausalMutation CLINVAR Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. 18337304

2008
dbSNP: rs121913595
rs121913595
MPZ
A 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth disease due to the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis. 16279991

2005
dbSNP: rs121913595
rs121913595
MPZ
A 0.700 CausalMutation CLINVAR An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan. 12207153

2002
dbSNP: rs121913595
rs121913595
MPZ
A 0.700 CausalMutation CLINVAR Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease. 10923043

2000
dbSNP: rs121913595
rs121913595
MPZ
A 0.700 CausalMutation CLINVAR Mutations of the same sequence of the myelin P0 gene causing two different phenotypes. 9452091

1998