rs281865127, MPZ

N. diseases: 5
Disease: Hereditary Motor and Sensory Neuropathy Type I ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
0.700 CausalMutation CLINVAR Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity. 29670817 2018
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
0.700 CausalMutation CLINVAR Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease. 26454100 2015
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
0.700 CausalMutation CLINVAR Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. 12090401 2002
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
0.700 CausalMutation CLINVAR Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B. 11182278 2001
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
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
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
0.700 CausalMutation CLINVAR A new mutation of the Po gene in patients with Charcot-Marie-Tooth disease type 1B: screening of the Po gene by heteroduplex analysis. 8938258 1996