rs63749824, PSEN1

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer disease, familial, type 3
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
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.800 GeneticVariation UNIPROT Preventing Alzheimer's disease and cognitive decline. 21500874 2010
Alzheimer disease, familial, type 3
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
Alzheimer disease, familial, type 3
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
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.800 CausalMutation CLINVAR
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.700 CausalMutation CLINVAR
ACNE INVERSA, FAMILIAL, 3
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
0.700 CausalMutation CLINVAR
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.700 CausalMutation CLINVAR
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.030 GeneticVariation BEFREE Generation of induced pluripotent stem cells (iPSCs) from an Alzheimer's disease patient carrying an A79V mutation in PSEN1. 27345973 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.030 GeneticVariation BEFREE Three of 12 noncarriers (25%) from the PSEN1 A79V family are potential phenocopies as they also developed AD dementia (median age at onset, 76.0 years). 27454811 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.030 GeneticVariation BEFREE We previously generated an induced pluripotent stem cell (iPSC) line from an AD patient carrying an A79V mutation in PSEN1 as an in vitro disease model. 27879212 2016
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.020 GeneticVariation BEFREE Three of 12 noncarriers (25%) from the PSEN1 A79V family are potential phenocopies as they also developed AD dementia (median age at onset, 76.0 years). 27454811 2016
Dementia
CUI: C0497327
Disease: Dementia
0.020 GeneticVariation BEFREE Three of 12 noncarriers (25%) from the PSEN1 A79V family are potential phenocopies as they also developed AD dementia (median age at onset, 76.0 years). 27454811 2016
Dementia
CUI: C0497327
Disease: Dementia
0.020 GeneticVariation BEFREE The A79V mutation in PS1 can be associated with very late onset of dementia. 17615170 2007
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.020 GeneticVariation BEFREE The A79V mutation in PS1 can be associated with very late onset of dementia. 17615170 2007
Familial Alzheimer Disease (FAD)
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
0.010 GeneticVariation BEFREE In contrast, A79V FAD mutation or FTD-associated mutations (L113P, G183V, and Rins352) did not appear to affect ER Ca(2+) leak function of PS1 in our experiments. 17431506 2007