BACE2, beta-secretase 2, 25825

N. diseases: 54; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation disease BEFREE Parkinson's disease (n = 86) and control (n = 161) DNA were genotyped for 19 regulatory region tagging single-nucleotide polymorphisms (SNPs) within nine genes (APP, ADAM10, BACE1, BACE2, PSEN1, PSEN2, PEN2, NCSTN, and APH1B) involved in the cleavage of APP. 25808939 2015
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.050 Biomarker disease BEFREE BACE2 could be involved in the Alzheimer-like neuropathology of Down syndrome, as well as in Alzheimer's disease linked to chromosome 21 but not showing mutations in APP. 10965118 2000
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.050 Biomarker disease BEFREE BACE2 could be involved in the Alzheimer-like neuropathology of Down syndrome, as well as in Alzheimer's disease linked to chromosome 21 but not showing mutations in APP. 10965118 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE BACE2 could be involved in the Alzheimer-like neuropathology of Down syndrome, as well as in Alzheimer's disease linked to chromosome 21 but not showing mutations in APP. 10965118 2000
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
0.010 Biomarker disease BEFREE ALP56 may contribute to colorectal adenoma formation and to an exophytic growth pattern in these adenomas. 12802606 2004
CUI: C0001430
Disease: Adenoma
Adenoma
0.010 Biomarker group BEFREE ALP56 may contribute to colorectal adenoma formation and to an exophytic growth pattern in these adenomas. 12802606 2004
CUI: C1860787
Disease: DOWN SYNDROME CRITICAL REGION
DOWN SYNDROME CRITICAL REGION
0.020 Biomarker disease BEFREE BACE2 is homologous to BACE1, a beta-secretase that is involved in the amyloidogenic pathway of amyloid precursor protein (APP), and maps to the Down syndrome critical region of chromosome 21. 19840121 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 AlteredExpression disease BEFREE BACE2 activity did not change significantly in the AD brain, and was not related to Abeta concentration. 19968762 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE BACE2 (β-site APP-cleaving enzyme 2) is a protease localized in the brain, where it appears to play a role in the development of Alzheimer disease (AD). 25342134 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Beta-site APP-cleaving enzyme 2, BACE2, is an aspartyl protease commonly associated with BACE1, a related homolog responsible for amyloid processing in the brain and strongly implicated in Alzheimer's disease. 26840340 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 AlteredExpression disease BEFREE ASP-1 at a concentration of 128 µg/mL did not show haemolytic activity, and no cytotoxicity was observed against hepatic carcinoma and breast carcinoma cell lines at the same concentration. 28887200 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 AlteredExpression disease BEFREE ASP-1 at a concentration of 128 µg/mL did not show haemolytic activity, and no cytotoxicity was observed against hepatic carcinoma and breast carcinoma cell lines at the same concentration. 28887200 2018
CUI: C0333463
Disease: Senile Plaques
Senile Plaques
0.020 Biomarker disease BEFREE BACE2 is an aspartyl protease to cleave APP to prevent the generation of Aβ, a central component of neuritic plaques in Alzheimer's brain. 29703946 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 Biomarker disease BEFREE BACE2 has been recognized as an exciting new target for type 2 diabetes. 30637955 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE BACE2 has been recognized as an exciting new target for type 2 diabetes. 30637955 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE A major challenge in the development of β-site amyloid precursor protein cleaving enzyme 1 (BACE1) inhibitors for the treatment of Alzheimer's disease is the alignment of potency, drug-like properties, and selectivity over related aspartyl proteases such as Cathepsin D (CatD) and BACE2. 29613789 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 AlteredExpression group LHGDN A novel aspartic protease gene, ALP56, is up-regulated in human breast cancer independently from the cathepsin D gene. 12611455 2003
MRSA - Methicillin resistant Staphylococcus aureus infection
0.010 Biomarker disease BEFREE A strong antistaphylococcal peptide (ASP-1) from Bacillus subtilis URID 12.1 strain that is active against cefoxitin- and methicillin-resistant Staphylococcus aureus clinical isolates was purified to homogeneity by solvent extraction, silica gel-based adsorption chromatography and reversed-phase high-performance liquid chromatography. 28887200 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Additionally, we found increased expression levels of genes that are considered to be associated with AD (BACE2, RCAN1, ETS2, TMED10), as compared to healthy controls. 28059787 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE APP and BACE2 are 2 genes located in chromosome 21 and related to AD. 24462566 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE As glia are 10 times more abundant in brain compared with neurons, our data indicate that BACE2 could indeed contribute to Abeta generation in the brains of Alzheimer disease and, in particular, Down syndrome patients. 15987683 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Based on its high catalytic efficiency, its ability to degrade Aß intracellularly, and other characteristics, BACE2 represents a particulary strong therapeutic candidate for the treatment or prevention of AD. 22986058 2012
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
AICARDI-GOUTIERES SYNDROME
0.010 GeneticVariation disease BEFREE Both strains are genetically identical to the AGS susceptible DBA/2 (D2) strain except for a small amount of C57BL/6N (B6N) genome surrounding the Ahr locus and encompassing the Asp1 locus. 10656108 1998
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study. 16023140 2005