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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 AlteredExpression disease BEFREE Mechanistic investigations identified several interstitial genes, including Ets2 and Bace2, whose reduced expression correlated in the gene homologs in human prostate cancer with biochemical relapse and lethal disease. 26880803 2016
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.010 Biomarker disease BEFREE Mice with functionally inactive Bace2 and insulin-resistant mice treated with a newly identified Bace2 inhibitor both display augmented β cell mass and improved control of glucose homeostasis due to increased insulin levels. 21907142 2011
CUI: C0751791
Disease: Reflex Epilepsy, Audiogenic
Reflex Epilepsy, Audiogenic 		0.020 GeneticVariation disease BEFREE Nonallelism for the audiogenic seizure prone (Asp1) and the aryl hydrocarbon receptor (Ahr) loci in mice. 10656108 1998
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE Northern hybridization indicated that the expression of ALP56 is associated with growth and metastasis of MDA-MB-435 tumors in immunodeficient mice. 10838186 2000
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.010 AlteredExpression group BEFREE Northern hybridization indicated that the expression of ALP56 is associated with growth and metastasis of MDA-MB-435 tumors in immunodeficient mice. 10838186 2000
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		0.020 Biomarker disease BEFREE Our data argue against BACE2 being involved in the formation of neuritic plaques in AD. 15857888 2005
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 Biomarker disease BEFREE Our results suggest that BACE2 is not involved in the amyloidogenic pathway, cognitive dysfunction or cholinergic degeneration. 19840121 2010
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		0.010 AlteredExpression disease BEFREE Our studies demonstrate that BACE1 and BACE2 (a) are expressed in normal adult muscle at the postsynaptic domain of neuromuscular junctions, and in cultured human muscle; (b) are accumulated in the form of plaque-like inclusions in both s-IBM and h-IBM vacuolated muscle fibers; and (c) are immunoreactive in necrotizing muscle fibers. 12618121 2003
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		0.010 AlteredExpression disease BEFREE Our studies demonstrate that BACE1 and BACE2 (a) are expressed in normal adult muscle at the postsynaptic domain of neuromuscular junctions, and in cultured human muscle; (b) are accumulated in the form of plaque-like inclusions in both s-IBM and h-IBM vacuolated muscle fibers; and (c) are immunoreactive in necrotizing muscle fibers. 12618121 2003
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Particularly, a subtle structural difference around the DTG/DSG active site between the two structures has been observed that is useful for the in-depth selectivity study of BACE1 and BACE2 inhibitors, stimulating new therapeutic strategies for the treatment of Alzheimer's disease and Down syndrome as well. 15473697 2005
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.050 Biomarker disease BEFREE Particularly, a subtle structural difference around the DTG/DSG active site between the two structures has been observed that is useful for the in-depth selectivity study of BACE1 and BACE2 inhibitors, stimulating new therapeutic strategies for the treatment of Alzheimer's disease and Down syndrome as well. 15473697 2005
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.050 Biomarker disease BEFREE Particularly, a subtle structural difference around the DTG/DSG active site between the two structures has been observed that is useful for the in-depth selectivity study of BACE1 and BACE2 inhibitors, stimulating new therapeutic strategies for the treatment of Alzheimer's disease and Down syndrome as well. 15473697 2005
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.050 GeneticVariation disease BEFREE Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. 24462566 2014
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.050 GeneticVariation disease BEFREE Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome. 24462566 2014
CUI: C0021400
Disease: Influenza
Influenza 		0.010 Biomarker disease BEFREE Previously we showed that the protein adjuvant rOv-ASP-1 augments influenza-specific antibody titers and survival after virus challenge in both young adult and old-age mice when administered with the trivalent inactivated influenza vaccine (IIV3). 29764680 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 Biomarker disease BEFREE Since BACE2 is located on chromosome 21, it is speculated that BACE2 may play a role in AD pathogenesis in DS. 16816112 2006
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 Biomarker disease BEFREE The aim of the present study was to investigate the effect of BACE2 modulation on β-cell alterations in a mouse model of T2D induced by IAPP overexpression. 28337562 2017
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
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: 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: 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: 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