rs63750590, PSEN1

N. diseases: 10
Disease: Myoclonus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myoclonus
CUI: C0027066
Disease: Myoclonus
0.010 GeneticVariation BEFREE Associated features also segregated with specific mutations: early epileptic activity (E120G), spastic paraparesis (V261L), subcortical dementia and parkinsonism (V272A), early language impairment, frontal signs, and myoclonus (L226F), and late myoclonus and seizures (H163R, L282R). 20157243 2010