rs121434508, TMEM126A

N. diseases: 3
Disease: Peripheral Neuropathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
0.010 GeneticVariation BEFREE Our results confirm genetic heterogeneity in arOA, illustrate clinical variability between families with the p.Arg55X mutation including the description of a mild phenotype in a heterozygote, and underscore the implication of mitochondrial proteins in optic and peripheral neuropathy. 22815638 2012