rs121913597, MPZ

N. diseases: 5
Disease: Charcot-Marie-Tooth disease, Type 2J ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Charcot-Marie-Tooth disease, Type 2J
CUI: C1843153
Disease: Charcot-Marie-Tooth disease, Type 2J
0.800 GeneticVariation UNIPROT Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs. 16775239 2006
Charcot-Marie-Tooth disease, Type 2J
CUI: C1843153
Disease: Charcot-Marie-Tooth disease, Type 2J
0.800 GeneticVariation UNIPROT Hearing loss as the first feature of late-onset axonal CMT disease due to a novel P0 mutation. 15326256 2004
Charcot-Marie-Tooth disease, Type 2J
CUI: C1843153
Disease: Charcot-Marie-Tooth disease, Type 2J
0.800 GeneticVariation UNIPROT An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). 11080237 2000
Charcot-Marie-Tooth disease, Type 2J
CUI: C1843153
Disease: Charcot-Marie-Tooth disease, Type 2J
0.800 GeneticVariation UNIPROT The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. 10071056 1999
Charcot-Marie-Tooth disease, Type 2J
CUI: C1843153
Disease: Charcot-Marie-Tooth disease, Type 2J
0.800 CausalMutation CLINVAR