PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Presenile dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750231
rs63750231
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0011265
Disease:
Presenile dementia 		0.030 GeneticVariation BEFREE This study aimed to determine Consortium to Establish a Registry for Alzheimer's Disease (CERAD) Neuropsychological Assessment Battery total score diagnostic accuracy in the diagnosis of mild cognitive impairment (MCI) and dementia in familial Alzheimer's disease (FAD) with E280A mutation on presenilin-1 gene (PSEN1). 26478578 2016
dbSNP: rs63750231
rs63750231
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0011265
Disease:
Presenile dementia 		0.030 GeneticVariation BEFREE Clinical deterioration can be detected as measurable cognitive impairment around two decades before dementia onset in PSEN1 E280A carriers. 21296022 2011
dbSNP: rs63750231
rs63750231
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0011265
Disease:
Presenile dementia 		0.030 GeneticVariation BEFREE Individuals designated as FAD met the criteria for dementia and were positive for the E280A presenilin 1 mutation. 10923058 2000