rs121912438, SOD1

N. diseases: 58
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
0.020 GeneticVariation BEFREE (ii) The peripheral nerves of SOD1-G93A mice developed progressive neuropathy, which presented as defects in axons and myelin, leading to difficulty in walking and reduced locomotor capacity at a late stage of the disease. 29742495 2018
Neuropathy
CUI: C0442874
Disease: Neuropathy
0.020 GeneticVariation BEFREE Thus, hSOD1-G93A mutation causes both motor and sensory neuropathies, and as such the disease developed in the transgenic mice very closely resembles human ALS. 19293633 2009