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: rs63751032
rs63751032
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0011265
Disease:
Presenile dementia 		0.010 GeneticVariation BEFREE We describe here clinical and neuropathological features of a patient with dementia-parkinsonism from a family with a PSEN1 mutation (L420R). 22882713 2013