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: rs63751399
rs63751399
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
dbSNP: rs63751399
rs63751399
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		0.810 GeneticVariation BEFREE Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associated with familial FTD albeit without neuropathological confirmation. 15122701 2004
dbSNP: rs63751399
rs63751399
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		C 0.810 CausalMutation CLINVAR
dbSNP: rs63751287
rs63751287
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		G 0.710 CausalMutation CLINVAR PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 29316780 2018
dbSNP: rs63751287
rs63751287
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		G 0.710 CausalMutation CLINVAR Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD. 27014058 2016
dbSNP: rs63751287
rs63751287
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		0.710 GeneticVariation BEFREE The authors describe a PS-1 (M233L) mutation with the features of frontotemporal dementia (FTD) and review the literature. 16948293 2006
dbSNP: rs63751287
rs63751287
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		G 0.710 CausalMutation CLINVAR A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies. 11684347 2001
dbSNP: rs1566650594
rs1566650594
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		T 0.700 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801 2017
dbSNP: rs63750053
rs63750053
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		T 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: rs63750082
rs63750082
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: 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: 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: rs63750450
rs63750450
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		G 0.700 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: 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: rs63750900
rs63750900
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		A 0.700 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801 2017
dbSNP: rs63751278
rs63751278
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		G 0.700 CausalMutation CLINVAR Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease. 27793474 2017
dbSNP: rs661
rs661
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: rs63750053
rs63750053
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		T 0.700 CausalMutation CLINVAR Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484 2016
dbSNP: rs63750053
rs63750053
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		T 0.700 CausalMutation CLINVAR Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. 26923592 2016
dbSNP: rs63750082
rs63750082
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		C 0.700 CausalMutation CLINVAR The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. 27073747 2016
dbSNP: rs63750450
rs63750450
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		G 0.700 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: C0338451
Disease:
Frontotemporal dementia 		A 0.700 CausalMutation CLINVAR Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. 27777022 2016
dbSNP: rs661
rs661
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		A 0.700 CausalMutation CLINVAR Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds. 27100199 2016
dbSNP: rs661
rs661
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		A 0.700 CausalMutation CLINVAR Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain. 27100200 2016
dbSNP: rs1566650594
rs1566650594
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		T 0.700 CausalMutation CLINVAR De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. 26194182 2015