Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751068
rs63751068
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.810 GeneticVariation UNIPROT

dbSNP: rs63751068
rs63751068
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		T 0.810 CausalMutation CLINVAR

dbSNP: rs1566650594
rs1566650594
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
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
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
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: rs63749824
rs63749824
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		T 0.700 CausalMutation CLINVAR

dbSNP: rs63749836
rs63749836
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs63750053
rs63750053
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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: rs63750053
rs63750053
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		T 0.700 CausalMutation CLINVAR Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. 26923592

2016
dbSNP: rs63750053
rs63750053
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		T 0.700 CausalMutation CLINVAR Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484

2016
dbSNP: rs63750053
rs63750053
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		T 0.700 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
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		T 0.700 CausalMutation CLINVAR The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism. 17197420

2007
dbSNP: rs63750053
rs63750053
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		T 0.700 CausalMutation CLINVAR Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 11524469

2001
dbSNP: rs63750053
rs63750053
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		T 0.700 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
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		T 0.700 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
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		T 0.700 CausalMutation CLINVAR Presenilin mutations in Alzheimer's disease. 9521418

1998
dbSNP: rs63750082
rs63750082
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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: rs63750082
rs63750082
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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: rs63750082
rs63750082
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		C 0.700 CausalMutation CLINVAR Disease-related mutations among Caribbean Hispanics with familial dementia. 25333068

2014
dbSNP: rs63750082
rs63750082
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		C 0.700 CausalMutation CLINVAR Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia. 23114514

2013
dbSNP: rs63750082
rs63750082
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		C 0.700 CausalMutation CLINVAR Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. 22312439

2012
dbSNP: rs63750082
rs63750082
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		C 0.700 CausalMutation CLINVAR Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation. 18797263

2008
dbSNP: rs63750082
rs63750082
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		C 0.700 CausalMutation CLINVAR A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. 11710891

2001
dbSNP: rs63750082
rs63750082
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		C 0.700 CausalMutation CLINVAR Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 11524469

2001
dbSNP: rs63750083
rs63750083
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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