rs879253954, PMP22

N. diseases: 4
Disease: Neuropathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neuropathy
CUI: C0442874
Disease: Neuropathy
0.010 GeneticVariation BEFREE In Trembler mouse a Gly150Asp amino acid exchange in the peripheral myelin protein 22kDa (PMP22) gene was identified as causative reason for this hypertrophic neuropathy. 10959245 1998