PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer disease, familial, type 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750900
rs63750900
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		A 0.800 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: rs63750900
rs63750900
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		A 0.800 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801 2017
dbSNP: rs63750900
rs63750900
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		A 0.800 CausalMutation CLINVAR Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. 27777022 2016
dbSNP: rs63750900
rs63750900
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. 24829003 2014
dbSNP: rs63750900
rs63750900
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT EFNS guidelines for the diagnosis and management of Alzheimer's disease. 20831773 2010
dbSNP: rs63750900
rs63750900
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Preventing Alzheimer's disease and cognitive decline. 21500874 2010
dbSNP: rs63750900
rs63750900
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
dbSNP: rs63750900
rs63750900
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		A 0.800 CausalMutation CLINVAR Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation. 15205973 2004
dbSNP: rs63750900
rs63750900
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		A 0.800 CausalMutation CLINVAR A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes. 9189043 1997
dbSNP: rs63750900
rs63750900
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		A 0.800 CausalMutation CLINVAR A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. 8910898 1996