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
0.020 GeneticVariation BEFREE Gain-of-toxic mutations in the N-glycosylation motif of the seipin/BSCL2 gene (namely, the N88S and S90L mutations) cause autosomal dominant motor neuron diseases, termed 'seipinopathy'. 22045697 2012
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
0.020 GeneticVariation BEFREE Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in the seipin gene have been identified in autosomal dominant motor neuron diseases such as Silver syndrome/spastic paraplegia 17 (SPG17) (OMIM #270685) and distal hereditary motor neuropathy type V (dHMN-V) (OMIM #182960). 18790819 2009