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: rs63750231
rs63750231
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		C 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: rs63750231
rs63750231
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		C 0.700 CausalMutation CLINVAR Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. 25471389 2015
dbSNP: rs63750231
rs63750231
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		C 0.700 CausalMutation CLINVAR The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells. 24217025 2014
dbSNP: rs63750231
rs63750231
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		C 0.700 CausalMutation CLINVAR Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation. 22766738 2012
dbSNP: rs63750231
rs63750231
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		C 0.700 CausalMutation CLINVAR Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase. 22461631 2012
dbSNP: rs63750231
rs63750231
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		C 0.700 CausalMutation CLINVAR The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. 7550356 1995