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: rs63751068
rs63751068
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease:
Pick Disease of the Brain 		0.810 GeneticVariation BEFREE The G183V mutation possibly causing Pick disease causes production of aberrant transcripts truncating the open reading frame after exon 5 sequence. 24101600 2014
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: rs63751068
rs63751068
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease:
Pick Disease of the Brain 		0.810 GeneticVariation UNIPROT
dbSNP: rs63751068
rs63751068
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease:
Pick Disease of the Brain 		T 0.810 CausalMutation CLINVAR
dbSNP: rs63751399
rs63751399
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		C 0.810 CausalMutation CLINVAR
dbSNP: rs121917808
rs121917808
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63749891
rs63749891
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63750053
rs63750053
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63750082
rs63750082
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63750083
rs63750083
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63750231
rs63750231
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63750265
rs63750265
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63750306
rs63750306
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63750391
rs63750391
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63750450
rs63750450
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63750526
rs63750526
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63750577
rs63750577
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63750590
rs63750590
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63750687
rs63750687
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
dbSNP: rs63751287
rs63751287
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		G 0.800 CausalMutation CLINVAR PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 29316780 2018
dbSNP: rs121917808
rs121917808
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341 2017
dbSNP: rs121917809
rs121917809
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3160720
Disease:
Cardiomyopathy, Dilated, 1u 		0.800 GeneticVariation UNIPROT Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341 2017
dbSNP: rs63749891
rs63749891
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT 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: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341 2017