PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: DYSTONIA 16 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677567
Disease: DYSTONIA 16 (disorder)
DYSTONIA 16 (disorder) 		0.010 GeneticVariation disease BEFREE Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. 28664294 2017