PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Psychotic symptom ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0871189
Disease: Psychotic symptom
Psychotic symptom 		0.010 GeneticVariation phenotype BEFREE We describe a case of presenile dementia who presented with peudo-psychotic symptoms carrying a PSEN1 mutation (P355 S), which was not known to be pathogenic. 31177233 2019