PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: Presenile dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750215
rs63750215
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0011265
Disease:
Presenile dementia 		0.020 GeneticVariation BEFREE We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) </span>of the PSEN2 gene. 19073399 2008
dbSNP: rs63750215
rs63750215
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0011265
Disease:
Presenile dementia 		0.020 GeneticVariation BEFREE The study provides support for the potential pharmacogenomic identification of N141I PS2 FAD cases that might preferentially benefit from inhibition of COX-2 during the progression of clinical dementia. 16331303 2006
dbSNP: rs28936380
rs28936380
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0011265
Disease:
Presenile dementia 		0.020 GeneticVariation BEFREE Reduction of Ca2+ stores and capacitative Ca2+ entry is associated with the familial Alzheimer's disease presenilin-2 T122R mutation and anticipates the onset of dementia. 15755689 2005
dbSNP: rs28936380
rs28936380
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0011265
Disease:
Presenile dementia 		0.020 GeneticVariation BEFREE We describe an Italian pedigree with hereditary dementia associated with a novel T122R mutation in the presenilin-2 gene (PSEN2). 14681895 2003
dbSNP: rs142690225
rs142690225
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0011265
Disease:
Presenile dementia 		0.010 GeneticVariation BEFREE A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment. 18727676 2008