MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Presenile dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 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 2014
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an inherited dementia caused by tauopathy. 20178834 2010
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Among families, the symptomatology appears to vary in quality and severity in relation to the specific Tau gene mutation and often may include parkinsonism, supranuclear palsies, and/or myoclonus, in addition to dementia. 10412802 1999
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Frontotemporal dementia with parkinsonism (FTDP-17) is an autosomal dominant disorder that presents clinically with dementia, extrapyramidal signs, and behavioral disturbances in mid-life and progresses to death within 5 to 10 years. 10446810 1999
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the patient's tau pathology and late-onset dementia. 11921059 2002
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE One group of neurodegenerative dementias known as FTDP-17 (fronto-temporal dementia with Parkinsonism linked to chromosome 17) is directly linked genetically to mutations in the tau gene, demonstrating that Tau misfunction can cause neuronal cell death and dementia. 16495230 2006
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Our results suggest that both MAPT H1/H1 genotype and APOE ε4 allele lead to a more rapid progression to dementia among MCI subjects, probably mediating an increased rate of amyloid-β and tau brain deposition. 20930301 2010
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE The tau gene has been found to be the locus of dementia with rigidity linked to chromosome 17. 10374757 1999
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE They show that dysfunction of Tau protein is sufficient to cause neurodegeneration and dementia. 29497399 2018
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE MAPT H1/H1 genotype was an independent predictor of dementia risk (odds ratio = 12.1) and the H1 versus H2 haplotype was associated with a 20% increase in transcription of 4-repeat tau in Lewy body disease brains. 19812213 2009
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683 1998
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE In this article, we describe a novel missense mutation, S320F, in the tau gene in a family with presenile dementia. 11891833 2002
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Dementia caused by Alzheimer's disease (AD) is mainly characterized by accumulation in the brain of extra- and intraneuronal amyloid-β (Aβ) and tau proteins, respectively, which selectively affect specific regions, particularly the neocortex and the hippocampus. 27792010 2017
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE We have assessed whether apolipoprotein E (ApoE) genotype influences the age of onset of dementia in a series of families with frontal temporal dementia with defined mutations in the tau gene. 10076900 1999
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Alzheimer's Disease (AD) is an age-dependent neurodegenerative disorder, the most common type of dementia that is clinically characterized by the presence of beta-amyloid (Aβ) extracellularly and intraneuronal tau protein tangles that eventually leads to the onset of memory and cognition impairment, development of psychiatric symptoms and behavioral disorders that affect basic daily activities. 31642777 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Beta-amlyoid 1-42 and tau-protein in cerebrospinal fluid of patients with Parkinson's disease dementia. 16899997 2006
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE This study is a reappraisal of the strong association of APOE variability with AD in southern India when compared to other dementia groups, while the transcriptional differences between MAPT haplotypes have a limited role in Indian dementia patients. 27705964 2016
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Then we performed neuroimaging and genetic analysis of MAPT and other dementia-related genes in the proband. 21555888 2011
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 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
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE P10636 (microtubule-associated protein tau, that is involved in diseases like dementia etc.) was found to be the commonly screened target by about seventy percent of these phytochemicals. 29320554 2018
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 GeneticVariation disease BEFREE Mutations in the MAPT gene, which encodes the tau protein, are associated with several neurodegenerative diseases, including frontotemporal dementia (FTD), dementia with epilepsy, and other types of dementia. 30696811 2019
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Alzheimer's disease (AD) is the most common form of dementia and is distinguished from other dementias by observation of extracellular Amyloid-β (Aβ) plaques and intracellular neurofibrillary tangles, comprised of fibrils of Aβ and tau protein, respectively. 30123109 2018
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.400 Biomarker disease BEFREE Although it is believed that tau protein abnormalities and/or the loss of its functions results in neurodegeneration and dementia, the mechanism of tauopathy remains obscure. 29973863 2018