PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875357
rs281875357
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs63751068
rs63751068
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease:
Pick Disease of the Brain 		T 0.810 CausalMutation CLINVAR
dbSNP: rs63749824
rs63749824
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs63749885
rs63749885
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs63749891
rs63749891
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs63750053
rs63750053
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 11524469 2001
dbSNP: rs63750053
rs63750053
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21. 24773620 2014
dbSNP: rs63750053
rs63750053
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism. 17197420 2007
dbSNP: rs63750053
rs63750053
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors. 10468510 1999
dbSNP: rs63750053
rs63750053
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 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: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR Presenilin mutations in Alzheimer's disease. 9521418 1998
dbSNP: rs63750053
rs63750053
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online. 10447269 1999
dbSNP: rs63750053
rs63750053
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. 26923592 2016
dbSNP: rs63750053
rs63750053
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 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: rs63750577
rs63750577
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs63750687
rs63750687
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 GeneticVariation CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014
dbSNP: rs63751229
rs63751229
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs63751272
rs63751272
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1566630791
rs1566630791
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.700 GeneticVariation CLINVAR A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease. 31153663 2020
dbSNP: rs1566650594
rs1566650594
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		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
dbSNP: rs1566650594
rs1566650594
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		T 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: rs1566650594
rs1566650594
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease:
Pick Disease of the Brain 		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: rs1566650594
rs1566650594
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease:
Pick Disease of the Brain 		T 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: rs1566650594
rs1566650594
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3151038
Disease:
ACNE INVERSA, FAMILIAL, 3 		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: rs1566650594
rs1566650594
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		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