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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease LHGDN Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study. 16023140 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Common BACE2 Polymorphisms are Associated with Altered Risk for Alzheimer's Disease and CSF Amyloid Biomarkers in APOE ε4 Non-Carriers. 31270419 2019
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.050 AlteredExpression disease BEFREE Despite an extra copy of the BACE2 gene in DS and the increase of its transcription, BACE2 protein levels are unchanged. 16816112 2006
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.050 AlteredExpression disease BEFREE Despite an extra copy of the BACE2 gene in DS and the increase of its transcription, BACE2 protein levels are unchanged. 16816112 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Effects of Zn2+ binding on the structural and dynamic properties of amyloid β peptide associated with Alzheimer's disease: Asp1 or Glu11? 23947440 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 Biomarker disease BEFREE Elucidation of the mechanism underlying BACE2 degradation is important for defining its biological features and its potential role in Alzheimer's disease drug development. 23773066 2013
CUI: C0751791
Disease: Reflex Epilepsy, Audiogenic
Reflex Epilepsy, Audiogenic
0.020 GeneticVariation disease BEFREE Furthermore, we detect hCoch-5B2 on three overlapping YACs, two of which also contain one of the markers linked to DFNA9. mCoch-5B2 was genetically mapped in the mouse to chromosome 12, in a region of homologous synteny with human 14q11.2-q13, which contains the asp1 (audiogenic seizure prone) locus in the mouse. 9441737 1997
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.010 Biomarker disease BEFREE Identification of BACE2 as an avid ß-amyloid-degrading protease. 22986058 2012
CUI: C0202100
Disease: Insulin C-peptide measurement
Insulin C-peptide measurement
0.100 GeneticVariation phenotype GWASCAT Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. 23903356 2013
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.010 GeneticVariation disease BEFREE In addition, in ε4 non-carriers diagnosed with AD or mild cognitive impairment (MCI), SNPs within the BACE2 locus are associated with cerebrospinal fluid (CSF) levels of Aβ1-42. 31270419 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 AlteredExpression disease BEFREE In particular, our system links the expression of the Alzheimer's disease hallmark gene APP (amyloid-beta precursor protein) to the beta-site-cleaving enzymes BACE and BACE2, the gamma-site-cleaving enzymes presenilin 1 and 2, apolipoprotein E, and other Alzheimer's disease-related genes. 15492223 2004
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 AlteredExpression disease BEFREE In situ hybridization of biopsies from breast cancer and colon cancer patients indicated that ALP56 is upregulated in human primary tumors and liver metastasis. 10838186 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 AlteredExpression disease BEFREE In situ hybridization of biopsies from breast cancer and colon cancer patients indicated that ALP56 is upregulated in human primary tumors and liver metastasis. 10838186 2000
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 AlteredExpression disease BEFREE In situ hybridization of biopsies from breast cancer and colon cancer patients indicated that ALP56 is upregulated in human primary tumors and liver metastasis. 10838186 2000
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 AlteredExpression disease BEFREE In situ hybridization of biopsies from breast cancer and colon cancer patients indicated that ALP56 is upregulated in human primary tumors and liver metastasis. 10838186 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 AlteredExpression group BEFREE In situ hybridization of biopsies from breast cancer and colon cancer patients indicated that ALP56 is upregulated in human primary tumors and liver metastasis. 10838186 2000
Secondary malignant neoplasm of liver
0.010 AlteredExpression disease BEFREE In situ hybridization of biopsies from breast cancer and colon cancer patients indicated that ALP56 is upregulated in human primary tumors and liver metastasis. 10838186 2000
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 Biomarker disease BEFREE Knockdown of BACE2 or ING2 and linifanib treatment may improve the prognosis of patients with osteosarcoma. 30604867 2019
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 Biomarker disease BEFREE Knockdown of BACE2 or ING2 and linifanib treatment may improve the prognosis of patients with osteosarcoma. 30604867 2019
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 Biomarker disease BEFREE Knockdown of BACE2 or ING2 and linifanib treatment may improve the prognosis of patients with osteosarcoma. 30604867 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.100 GeneticVariation disease BEFREE Lack of association between the polymorphisms of beta-site APP-cleaving enzyme 2 (BACE2) 5'-flanking region and sporadic Alzheimer's disease. 19124009 2009
CUI: C1305855
Disease: Body mass index
Body mass index
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1860787
Disease: DOWN SYNDROME CRITICAL REGION
DOWN SYNDROME CRITICAL REGION
0.020 Biomarker disease BEFREE Mapping to the Down syndrome critical region (chromosome 21) and identified as a homologue of BACE1, BACE2 also cleaves amyloid precursor protein at the beta-site. 15473697 2005
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
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