PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Frontotemporal dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750083
rs63750083
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		A 0.700 CausalMutation CLINVAR Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341 2017
dbSNP: rs63750083
rs63750083
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		A 0.700 CausalMutation CLINVAR Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro. 21373759 2011
dbSNP: rs63750083
rs63750083
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		A 0.700 CausalMutation CLINVAR Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes. 20634584 2010
dbSNP: rs63750083
rs63750083
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		A 0.700 CausalMutation CLINVAR Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease. 20145736 2010
dbSNP: rs63750083
rs63750083
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		A 0.700 CausalMutation CLINVAR Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families. 16628450 2006
dbSNP: rs63750083
rs63750083
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		A 0.700 CausalMutation CLINVAR The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families. 16897084 2006