rs1553259566, MPZ

N. diseases: 1
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 A small direct tandem duplication of the myelin protein zero gene in a patient with Dejerine-Sottas disease phenotype. 9588852 1998
Hereditary Motor and Sensory Neuropathy Type I
CUI: C0751036
Disease: Hereditary Motor and Sensory Neuropathy Type I
0.700 CausalMutation CLINVAR Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype. 7530550 1994