PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: Dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936380
rs28936380
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0497327
Disease:
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: C0497327
Disease:
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