PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: Alzheimer's Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749884
rs63749884
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.030 GeneticVariation BEFREE Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of Presenilin 2 gene. 22531416 2012
dbSNP: rs63749884
rs63749884
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.030 GeneticVariation BEFREE Moreover, the over-expression of familial AD-associated presenilin 2 mutations (PS2 M239I and PS2 T122R) resulted in reduced levels of all cystatin C forms (native and glycosylated) and of amyloid-β precursor protein (APP) metabolites within exosomes. 19773092 2011
dbSNP: rs63749884
rs63749884
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.030 GeneticVariation BEFREE In a family with autopsy-confirmed Alzheimer disease, the authors found a mutation in the presenilin 2 (PS2) gene (PSEN2) that predicts a methionine-to-isoleucine change at PS2 residue 239 (M239I), at which a change to valine was known in another family. 10822446 2000