PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Primary Progressive Nonfluent Aphasia
0.300 GermlineCausalMutation disease ORPHANET A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. 15122701 2004