PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Aphasia, Expressive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917814
Disease: Aphasia, Expressive
Aphasia, Expressive 		0.010 GeneticVariation disease BEFREE Our findings confirm the role of the PS1 Thr147Ile substitution in Alzheimer's disease and expand the clinical phenotype to include expressive aphasia and very early onset of dementia. 25812849 2015