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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.050 AlteredExpression disease LHGDN Western blot analysis revealed no difference between DS and control in BACE-2 protein levels in the intracellular compartment. 12895444 2003
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.050 AlteredExpression disease BEFREE Western blot analysis revealed no difference between DS and control in BACE-2 protein levels in the intracellular compartment. 12895444 2003
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.050 AlteredExpression disease BEFREE Western blot analysis revealed no difference between DS and control in BACE-2 protein levels in the intracellular compartment. 12895444 2003
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 GeneticVariation disease BEFREE We looked into our cohort of 67 DS cases with dementia for the effect of BACE2 variants in age of onset of dementia. 24462566 2014
CUI: C0497327
Disease: Dementia
Dementia 		0.010 GeneticVariation disease BEFREE We looked into our cohort of 67 DS cases with dementia for the effect of BACE2 variants in age of onset of dementia. 24462566 2014
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.020 GeneticVariation disease BEFREE We have tested, in a two-stage association study, whether allelic or haplotype variation of the beta-amyloid cleaving enzyme-2 (BACE2) locus on chromosome 21q affects the risk of late-onset AD. 16023140 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease BEFREE We conclude that sequence variation in the BACE1 or BACE 2 gene is not a significant risk factor for AD; however, a combination of a specific BACE1 allele and APOE epsilon 4 may increase the risk for Alzheimer disease over and above that attributed to APOE epsilon 4 alone. 12707937 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE Up-regulation of ALP56 gene transcription was observed in both adenomas and cancers compared to normal mucosa. 12802606 2004
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE To elucidate the involvement of BACE2 in AD pathogenesis, we compared BACE2 and BACE1 gene regulation and their functions in Abeta generation. 15857888 2005
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 Biomarker disease BEFREE Thus, BACE2 inhibition may be useful to recover insulin secretion in hIAPP-INS1E defective cells and may be proposed as a therapeutic target for T2D. 25342134 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 Biomarker disease BEFREE Thus ALP56 as well as cathepsin D may be a useful target molecule in breast cancer treatment. 12611455 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 Biomarker disease BEFREE Thus ALP56 as well as cathepsin D may be a useful target molecule in breast cancer treatment. 12611455 2003
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.010 Biomarker phenotype BEFREE This study aims to define possible longitudinal predictive mRNA markers involved in the main pathogenic pathways of PE: inflammation [macrophage migration inhibitory factor (MIF)], hypoxia and oxidative stress [hypoxia inducible factor 1-α subunit (HIF1A) and β-site APP-cleaving enzyme-2 (BACE2)] and endothelial dysfunction [endoglin (ENG), fms-related tyrosine kinase-1 (FLT1) and vascular endothelial growth factor (VEGF)]. 25460285 2015
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.010 GeneticVariation disease BEFREE This activity appears highly increased by the presence (N-terminally to Asp-1) of a double-mutation (KM-->NL) found in several Swedish families affected by early onset Alzheimer's disease. 9098524 1997
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 Biomarker disease BEFREE These results suggest a potential therapeutic role for BACE2 in type 2 diabetes-associated hyperamylinaemia. 26840340 2016
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.020 GeneticVariation disease BEFREE These findings suggest that genetic variation at the BACE2 locus modifies AD risk for those individuals who don't carry the ε4 variant of APOE. 31270419 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Therefore, BACE2 contributes to AD pathogenesis as a conditional β-secretase and could be a preventive and therapeutic target for AD without the side effects of BACE1 inhibition. 30626751 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE The β-amyloid cleaving enzymes 1 and 2 (BACE1 and BACE2) have been regarded as the prospective targets for clinically treating Alzheimer's disease (AD) in the last two decades. 31545898 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 AlteredExpression disease BEFREE The proteins BACE1 and BACE2 and beta-secretase activity in normal and Alzheimer's disease brain. 17511655 2007
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		0.010 GeneticVariation disease BEFREE The potential liabilities of inhibiting BACE2 chronically have only recently begun to emerge as BACE2 impacts the processing of the premelanosome protein (PMEL17) and disrupts melanosome morphology resulting in a depigmentation phenotype. 29613789 2018
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.010 GeneticVariation disease BEFREE The patients had a significant excess of rare protein-altering variants in genes previously associated with Hirschsprung disease and in the β-secretase 2 gene (BACE2) (P = 2.9 × 10<sup>-6</sup>). 30217742 2018
CUI: C0042345
Disease: Varicosity
Varicosity 		0.010 Biomarker disease BEFREE The odds ratios in subjects CCSVI were 0.6 (0.2-2.2) for CEAP 1, 0.9 (0.2-4.5) for CEAP 2, and 1.0 (0.6-1.9) for family history of varicose veins. 25081746 2015
CUI: C4511608
Disease: Chronic cerebrospinal venous insufficiency
Chronic cerebrospinal venous insufficiency 		0.010 Biomarker disease BEFREE The odds ratios in subjects CCSVI were 0.6 (0.2-2.2) for CEAP 1, 0.9 (0.2-4.5) for CEAP 2, and 1.0 (0.6-1.9) for family history of varicose veins. 25081746 2015
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 Biomarker phenotype BEFREE The function for this gene, designated ALP56 (aspartic-like protease 56 kDa), in tumor progression is suggested by the homology of the encoded protein to aspartic proteases, such as cathepsin D. The amino acid residues in two catalytic domains of this family are highly conserved in those domains of ALP56. 10838186 2000
CUI: C1853666
Disease: Anemia, Diamond-Blackfan, 2
Anemia, Diamond-Blackfan, 2 		0.010 GeneticVariation disease BEFREE The D2N.B6N-Ahrb1 expresses B6 alleles for all markers within the critical region, whereas the D2.B6N-Asp1b expresses the B6 allele only at the Asp1 locus. 10656108 1998