rs74315431, VAPB

N. diseases: 15
Disease: Motor Neuron Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
0.030 GeneticVariation BEFREE Missense mutations (P56S) in Vapb are associated with autosomal dominant motor neuron diseases: amyotrophic lateral sclerosis and lower motor neuron disease. 26362257 2015
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
0.030 GeneticVariation BEFREE A proline-to-serine substitution at position-56 (P56S) of vesicle-associated membrane protein-associated protein B (VAPB) causes a form of dominantly inherited motor neuron disease (MND), including typical and atypical amyotrophic lateral sclerosis (ALS) and a mild late-onset spinal muscular atrophy (SMA). 23281774 2013
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
0.030 GeneticVariation BEFREE These results shed light on the mechanism by which VAP-B(P56S) aggregates are formed and induce familial motor neuron diseases. 20207736 2010