PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Lewy Body Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1446915570
rs1446915570
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0752347
Disease:
Lewy Body Disease 		0.010 GeneticVariation BEFREE Neuropathologic and molecular studies in brains of carriers of the PSEN1 p.A396T mutation or other PSEN1 or PSEN2 mutations associated with the coexistence of DLBD and AD are needed to clarify whether tau and α-synuclein proteinopathies occur independently or whether a relationship exists between α-synuclein and tau that might explain the mechanisms of coaggregation. 31165862 2019