Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 GeneticVariation disease BEFREE The identification of mutations in MAPT, the gene that encodes tau, causing dementia and parkinsonism established the notion that tau aggregation is responsible for the development of disease. 28789904 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE Participants from five families with early-onset autosomal-dominant mutations (Swedish and Arctic APP, PSEN1 M146V, H163Y, and I143T) included 35 carriers (28 without dementia and 7 with) and 44 non-carriers. 28079014 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE In APOE-ɛ4 adjusted analyses, the relationships between the L and VL alleles and dementia status as well as CSF AD biomarkers were not significant. 26756745 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 Biomarker disease BEFREE Alzheimer disease (AD) is the most common cause of dementia in the elderly, and is characterized by extracellular deposition of β-amyloid and intracellular accumulation of hyperphosphorylated tau protein in the brain. 28379416 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 Biomarker disease BEFREE The aberrant accumulation of tau protein is a pathological hallmark of a class of neurodegenerative diseases known as tauopathies, including Alzheimer's disease and related dementias. 28760828 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 AlteredExpression disease BEFREE 17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression. 27956742 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 GeneticVariation disease BEFREE However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia. 26295349 2016
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE Mutations in Amyloid β Precursor Protein (APP) and in genes that regulate APP processing--such as PSEN1/2 and ITM2b/BRI2--cause familial dementia, such Familial Alzheimer disease (FAD), Familial Danish (FDD) and British (FBD) dementias. 26528887 2016
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 Biomarker disease BEFREE The deposition of tau protein aggregates in the brain is a pathological hallmark of dementia; and the hippocampus, a brain structure known to be critical in processing learning and memory, is one of the first and most heavily affected regions. 26758828 2016
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 GeneticVariation disease BEFREE MAPT H1 Haplotype is Associated with Late-Onset Alzheimer's Disease Risk in APOEɛ4 Noncarriers: Results from the Dementia Genetics Spanish Consortium. 26444794 2016
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE Trisomy 21 and the consequent extra copy of the amyloid precursor protein (APP) gene and increased beta-amyloid (Aβ) peptide production underlie the universal development of Alzheimer's disease (AD) pathology and high risk of AD dementia in people with Down syndrome (DS). 26651340 2016
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 GeneticVariation disease BEFREE Frontotemporal dementia (FTD) is a frequent form of early-onset dementia and can be caused by mutations in MAPT encoding the microtubule-associated protein TAU. 26143746 2016
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE To investigate the effect of age, sex, APOE4 genotype, and lifestyle enrichment (education/occupation, midlife cognitive activity, and midlife physical activity) on Alzheimer disease (AD) biomarker trajectories using longitudinal imaging data (brain β-amyloid load via Pittsburgh compound B PET and neurodegeneration via (18)fluorodeoxyglucose (FDG) PET and structural MRI) in an elderly population without dementia. 26911640 2016
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 Biomarker disease BEFREE Sequencing of MAPT should be considered in patients with GGT and a family history of dementia or movement disorder. 25900293 2016
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE Alzheimer's disease is the common cause of dementia characterized by the accumulation of amyloid-β produced by breakage of amyloid-β precursor protein (APP). 26261684 2016
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE Given the absence of PSEN1, PSEN2 and APP causative variants, we investigated whether these 260 patients might be burdened with protein-modifying variants in 20 genes that were previously shown to cause other types of dementia when mutated. 26242991 2016
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE Cellular functions of the amyloid precursor protein from development to dementia. 25710536 2015
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 Biomarker disease BEFREE Levels of Aβ(42) and PHF-τ in cerebral cortex were correlated more strongly in the Dementia group, and these measures had independent explanatory power for dementia beyond those of standard neuropathologic indices. 25575135 2015
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 GeneticVariation disease BEFREE Alzheimer's disease (AD), the most common form of dementia in the elderly, is characterized by two neuropathological hallmarks: senile plaques, which are composed of Aβ peptides, and neurofibrillary tangles, which are composed of hyperphosphorylated TAU protein. 25025689 2015
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE The cluster-derived normal group had significantly fewer APOE ε4 carriers and fewer who progressed to dementia compared with the other subtypes; they also evidenced cerebrospinal fluid Alzheimer's disease biomarker profiles that did not differ from the normative reference group. 24857234 2015
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE MCI participants diagnosed via neuropsychological criteria yielded dissociable cognitive phenotypes, significant CSF AD biomarker associations, more stable diagnoses, and identified greater percentages of participants who progressed to dementia than conventional MCI diagnostic criteria. 24844687 2015
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.500 Biomarker disease BEFREE It is characterized by the accumulation of amyloid β peptides and abnormally phosphorylated tau proteins that are associated with cognitive decline and dementia. 24905038 2015
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE Abnormal CSF-AD biomarker levels predict subsequent progression to AD dementia in subjects with early-onset MCI. 24577466 2015
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE The levels of miR‑193b, exosomal miR‑193b, Aβ, tau, p‑tau, HCY and APOE in samples from APP/PS1 double‑transgenic mice, mild cognitive impairment (MCI) and dementia of Alzheimer‑type (DAT) patients, were measured. 25119742 2015