PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.120 Biomarker disease BEFREE Mutations in genes encoding amyloid precursor protein (APP) and presenilin 1 and 2 (PSEN1, PSEN2) are associated with increased accumulation of Abeta in neuritic plaques or in the walls of cerebral vessels. 15277614 2004
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.120 Biomarker disease BEFREE Screening of familial cases has so far linked four genes to Alzheimer's disease: amyloid precursor protein, presenilin 1, presenilin 2 and apolipoprotein E. Mutations in the amyloid precursor protein, presenilin 1 and presenilin 2 genes cause the enhanced production of b amyloid that is found in neuritic plaques. 12582468 2002
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.120 Biomarker disease HPO