BIN1, bridging integrator 1, 274

N. diseases: 163; N. variants: 24
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
0.500 GeneticVariation disease BEFREE Differential Methylation Levels in CpGs of the BIN1 Gene in Individuals With Alzheimer Disease. 31335457 2020
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE In this case-control study, we aimed to investigate whether single nucleotide polymorphisms in the BIN1 (rs744373) and IL-6 (rs1800795) genes are associated with AD. 26733302 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Altogether, five loci (rs6656401 at CR1, rs983392within MS4A6A, rs11218343 at SORL1, rs6733839 at BIN1, and APOE ε4) have been detected to be associated with one or a few established AD-related neuroimaging measures. 26732597 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE The bridging integrator 1 Gene rs7561528 polymorphism contributes to Alzheimer's disease susceptibility in East Asian and Caucasian populations. 28302384 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Our study verified the association between PICALM, BIN1, CLU, and MS4A4E variants and AD susceptibility in Han Chinese populations. 25452228 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE In a subsequent promoter analysis, we found the single nucleotide polymorphism rs744373 C-allele to be associated with high mRNA levels of bridging integrator 1 (BIN1)/Amphiphysin 2, i.e. a major component of the endocytotic machinery and located in a crucial genetic AD risk locus. 26631617 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE We hypothesized that the Bin1 monoclonal antibody (mAb) could be used in the treatment of AD by lowering the levels of Tau in cell culture and animal models. 31211444 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE We propose that BIN1 mediates AD risk by modulating Tau pathology. 23399914 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Genetic variation in BIN1 gene and Alzheimer's disease risk in Han Chinese individuals. 24582639 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE In the present study, nsSNPs in CLU, PICALM and BIN1 genes were screened for their functional impact on concerned proteins and their plausible role in Alzheimer disease (AD) susceptibility. 22960267 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE The increased proteome depth afforded by our TMT pipeline allowed us to identify and quantify a large number of alternatively spliced protein isoforms in brain, including AD risk factors such as BIN1, PICALM, PTK2B, and FERMT2. 30286791 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASCAT Genome-wide association study of Alzheimer's disease with psychotic symptoms. 22005930 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE As a consequence, how BIN1 through its interaction with Tau affects AD risk is also still not determined. 28755476 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE Correlation of gene expression with well-established AD-related factors, such as α-, β-, and γ-secretase activities, brain amyloid-β42 levels, and cerebrospinal fluid biomarkers, revealed a positive correlation between β-secretase activity and the expression of TREM2 and BIN1. 25281018 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE Replication of BIN1 association with Alzheimer's disease and evaluation of genetic interactions. 21321396 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE By contrast, genetic risk for Alzheimer disease (AD) was associated with worse item and associative memory, indicating adverse effects of APOE ε4 and a genetic risk score for AD (PICALM, BIN1, CLU) on episodic memory in general. 27647283 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Post-mortem and in vitro studies suggest that BIN1-associated AD risk is mediated by increased tau pathology but whether rs744373 is associated with increased tau pathology in vivo is unknown. 30992433 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 AlteredExpression disease BEFREE Predominant expression of Alzheimer's disease-associated BIN1 in mature oligodendrocytes and localization to white matter tracts. 27488240 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Our findings demonstrate that rs744373 itself or a variation in linkage disequilibrium may provide a neurogenetic mechanism for BIN1 while further validating the possibility of combining genetic and neuroimaging strategies to monitor individuals at risk for AD. 25630570 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease CTD_human Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE The direction of association at APOE, CLU, and BIN1 loci was the same for participants with PCA and posterior AD. 24670887 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASCAT GWAS on family history of Alzheimer's disease. 29777097 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE Bridging integrator 1 (BIN1): form, function, and Alzheimer's disease. 23871436 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE Bridging integrator 1 (BIN1) is considered as common genetic risk factors for AD, whereas different studies have provided various conclusions regarding its role in AD. 26768592 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Common variants at Bin1 are associated with sporadic Alzheimer's disease in the Han Chinese population. 25461955 2015