PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Mitochondrial abnormalities ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750800
rs63750800
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C4020732
Disease:
Mitochondrial abnormalities 		0.010 GeneticVariation BEFREE PS1-E120K iPSC-derived neurons also exhibited high levels of phosphorylated tau, as well as mitochondrial abnormalities and defective autophagy. 30429645 2018