APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Amyloidosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs572842823
rs572842823
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002726
Disease:
Amyloidosis 		0.010 GeneticVariation BEFREE This strain, which over-expresses both the 695 amino acid isoform of human amyloid precursor protein (APP) with K670N and M671L mutations and presenilin 1 with the A246E mutation, has accelerated amyloidosis and plaque formation. 20630068 2010