rs1553259648, MPZ

N. diseases: 8
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 GeneticVariation CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628 2015
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
0.700 CausalMutation CLINVAR Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene. 26310628 2015
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
0.700 GeneticVariation CLINVAR [Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene]. 22433810 2011
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
0.700 CausalMutation CLINVAR [Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene]. 22433810 2011