PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Frontotemporal dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566650594
rs1566650594
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		T 0.700 CausalMutation CLINVAR Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes. 20634584 2010
dbSNP: rs1566650594
rs1566650594
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		T 0.700 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801 2017
dbSNP: rs1566650594
rs1566650594
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease:
Frontotemporal dementia 		T 0.700 CausalMutation CLINVAR De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. 26194182 2015