Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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
|
0.800 | GeneticVariation | UNIPROT | Preventing Alzheimer's disease and cognitive decline. | 21500874 | 2010 | |||||
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
|
0.800 | GeneticVariation | UNIPROT | EFNS guidelines for the diagnosis and management of Alzheimer's disease. | 20831773 | 2010 | |||||
Alzheimer disease, familial, type 3
|
0.800 | CausalMutation | CLINVAR | ||||||||
Pick Disease of the Brain
|
0.700 | CausalMutation | CLINVAR | ||||||||
ACNE INVERSA, FAMILIAL, 3
|
0.700 | CausalMutation | CLINVAR | ||||||||
Frontotemporal dementia
|
0.700 | CausalMutation | CLINVAR | ||||||||
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
|
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
|
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
|
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
|
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
|
0.020 | GeneticVariation | BEFREE | The A79V mutation in PS1 can be associated with very late onset of dementia. | 17615170 | 2007 | |||||
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)
|
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 |