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: rs63750001
rs63750001
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD) 		0.020 GeneticVariation BEFREE Derivation of induced pluripotent stem cells from a familial Alzheimer's disease patient carrying the L282F mutation in presenilin 1. 27789396 2016
dbSNP: rs63750001
rs63750001
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD) 		0.020 GeneticVariation BEFREE Here, we generated Psen1 knockin (KI) mice carrying the FAD mutation L435F or C410Y. 25741723 2015