PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Familial Alzheimer Disease (FAD) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750590
rs63750590
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD) 		0.020 GeneticVariation BEFREE We established cell lines that stably express either wild-type (WT) PS1 or the FAD-linked PS1 H163R, E280A, deltaE9, and PS1 deltaT440 mutants and now demonstrate that the expression of the PS1 deltaT440 mutant led to a marked elevation in the ratio of beta-amyloid (Abeta) 42/40 peptides in a conditioned medium. 18045903 2007
dbSNP: rs63750590
rs63750590
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD) 		0.020 GeneticVariation BEFREE We found the mutations, G384A, E280A in two FAD and H163R in one sporadic AD patient, and no N1411 or M239V mutation in PS-2 gene, and no mutation in exons 16 and 17 in amyloid precursor protein (APP) gene. 8945747 1996