PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: Memory Loss ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751295
Disease: Memory Loss
Memory Loss 		0.020 GeneticVariation phenotype BEFREE We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss. 22531416 2012
CUI: C0751295
Disease: Memory Loss
Memory Loss 		0.020 Biomarker phenotype BEFREE Recent studies have revealed that forebrain specific conditional knockouts of PS1 and PS2 genes (cPSKO) cause both neuronal degeneration and memory loss without evidence of formation of amyloid plaques. 17981591 2008