Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE In this international, retrospective cohort study, we collected data on age at symptom onset, age at death, and disease duration for patients with pathogenic mutations in the GRN and MAPT genes and pathological expansions in the C9orf72 gene through the Frontotemporal Dementia Prevention Initiative and from published papers. 31810826 2020
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE Tauopathies such as Alzheimer's disease (AD), Pick's disease (PiD), Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) etc. represent a group of age-related neurodegenerative disorders in which tau protein loses its normal conformation mostly due to hyperphosphorylation and subsequent formation of the aggregates of defined shapes, known as Neurofibrillary Tangles (NFTs). 31715291 2020
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 Biomarker disease BEFREE Of the cohort of 73 participants, eight mutation carriers (three GRN, five MAPT) developed clinical features of frontotemporal dementia ('converters'). 30508042 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE We report the novel p.P397S MAPT variant in eight subjects from five apparently nonrelated families suffering from frontotemporal dementia with autosomal dominant pattern of inheritance. 31402617 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 Biomarker disease BEFREE Computational Investigation of RNA A-Bulges Related to the Microtubule-Associated Protein Tau Causing Frontotemporal Dementia and Parkinsonism. 30517788 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE Four patients with N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT underwent [<sup>11</sup> C]PBB3-PET to estimate regional tau loads. 30773680 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 Biomarker disease BEFREE Here, we examined regional profiles of tau aggregation and neurodegeneration in 40 brain regions in 8 patients with FTLD-tau/MAPT and 7 with Pick's disease (PiD), a sporadic form of FTLD-tau that often presents with bvFTD. 31640778 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 Biomarker disease BEFREE The assembly of tau protein into abnormal filaments and brain cell degeneration are characteristic of a number of human neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia and parkinsonism linked to chromosome 17. 30905766 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 Biomarker disease BEFREE Intracellular tau protein aggregates are a pathological hallmark of neurodegenerative tauopathies, including Alzheimer disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and Pick disease. 30193298 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain). 31537395 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE The microtubule binding protein tau is strongly implicated in multiple neurodegenerative disorders, including frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), which is caused by mutations in tau. 29138281 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE Interestingly, FTLD-tau cases with MAPT mutations had similar patterns and severity of neuropathological features to sporadic FTLD-tau subtypes and could be classified into: Pick's disease (K257T), corticobasal degeneration (S305S, IVS10‰+‰16, R406W), progressive supranuclear palsy (S305S) or globular glial tauopathy (P301L, IVS10‰+‰16). 29253099 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 Biomarker disease BEFREE Structures of filaments from Pick's disease reveal a novel tau protein fold. 30158706 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE P364S MAPT mutation is characterized clinically by a variable combination of frontotemporal dementia, parkinsonism and motor neurone disease of short duration, and neuropathologically by a widespread uniform distribution of all known neuronal tau inclusions in one family member. 29215752 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE Interaction between a MAPT variant causing frontotemporal dementia and mutant APP affects axonal transport. 29729423 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.800 CausalMutation disease CLINVAR PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 29316780 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 AlteredExpression disease BEFREE The pre-mRNA of MAPT is well studied and its aberrant pre-mRNA splicing is associated with frontotemporal dementia. 29729314 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 Biomarker disease BEFREE Tauopathies are neurodegenerative diseases characterized by TAU protein-related pathology, including frontotemporal dementia and Alzheimer's disease among others. 30036493 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation. 29716656 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE A cohort of 120 ALS patients, both sporadic and familial, without cognitive impairment was analyzed by next-generation sequencing with a multiple-gene panel comprising 23 genes, including MAPT, known to be associated with ALS and frontotemporal dementia. 30893702 2018
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 Biomarker disease BEFREE Hyperphosphorylated tau protein is a key pathology in Alzheimer's disease (AD), frontotemporal dementia, chronic traumatic encephalopathy, and Parkinson's disease. 29914030 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.800 CausalMutation disease CLINVAR Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease. 27793474 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy. 27859539 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 AlteredExpression disease BEFREE Expression and purification of tau protein and its frontotemporal dementia variants using a cleavable histidine tag. 27663563 2017
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.800 GeneticVariation disease BEFREE GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil. 27082848 2017