BACE1, beta-secretase 1, 23621

N. diseases: 120; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.300 Biomarker disease BEFREE This is because BACE1 catalyses the rate limiting step in the production of amyloid-beta (Abeta) the principal component of plaque pathology in AD, the excessive production of which is believed to be a primary cause of neurodegeneration, and cognitive dysfunction in AD. 18695942 2008
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.300 AlteredExpression disease BEFREE The identification of the cell type-specific expression and activation of NF-kappaB, Sp1 and YY1 transcription factors may provide a basis to specifically interfere with BACE1 expression and, thereby, to lower the concentrations of beta-amyloid peptides, which may prevent neuronal cell loss and cognitive decline in AD patients. 16904810 2006