MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Hyperphosphorylation and accumulation of tau in neurons (and glial cells) is one of the main pathologic hallmarks in Alzheimer's disease (AD) and other tauopathies, including Pick's disease (PiD), progressive supranuclear palsy, corticobasal degeneration, argyrophilic grain disease and familial frontotemporal dementia and parkinsonism linked to chromosome 17 due to mutations in the tau gene (FTDP-17-tau). 15658002 2004
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE That Tau dysfunction can cause neurodegeneration is indicated by pathogenic tau mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 11749044 2001
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE The discovery of multiple tau gene mutations that are pathogenic for hereditary frontotemporal dementia and parkinsonism linked to chromosome 17 in many kindreds, as well as the demonstration that tau polymorphisms are genetic risk factors for sporadic tauopathies, directly implicate tau abnormalities in the onset/progression of neurodegenerative disease. 11207421 2000
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE The role of tau in neurodegeneration has been clarified by the identification of genetic mutations in the tau gene in cases with familial frontotemporal dementia and parkinsonism linked to chromosome 17. 14528051 2003
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17. 12111297 2002
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Recently intronic and exonic mutations in the Tau gene have been found to be associated with familial neurodegenerative syndromes characterized not only by a predominantly frontotemporal dementia but also by the presence of neurological signs consistent with the dysfunction of multiple subcortical neuronal circuitries. 10412802 1999
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Soluble amyloid beta-protein is increased in frontotemporal dementia with tau gene mutations. 15004327 2004
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE We used microtubule-associated protein tau (MAPT) exon 10, whose missplicing causes frontotemporal dementia, to test the reporter in screening libraries of known bioactive compounds. 18678901 2008
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		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
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. 10802785 2000
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is a family of inherited dementias caused by tauopathy. 22169201 2012
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE The review begins with a discussion about similarities and differences in tau alteration in paradigmatic tauopathies such as frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease (AD). 15615650 2005
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Hereditary frontotemporal dementia associated with mutations in the microtubule-associated protein tau gene (MAPT) is a protean disorder. 25556536 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease UNIPROT Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. 10604746 1999
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Mutations in the microtubule-associated tau (MAPT) gene are associated clinically with frontotemporal dementia with or without supranuclear palsy, corticobasal syndrome or parkinsonism. 21176711 2011
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Generation of an isogenic, gene-corrected iPSC line from a symptomatic 59-year-old female patient with frontotemporal dementia caused by an R406W mutation in the microtubule associated protein tau (MAPT) gene. 27934586 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE We present a case of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K mutation in the MAPT gene from the family known as pallido-ponto-nigral degeneration (PPND). 17319286 2007
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Members of families with mutations in the tau gene are known to be heterogeneous in their clinical presentation, ranging from frontotemporal dementia to a clinical picture more resembling corticobasal degeneration or progressive supranuclear palsy. 18093153 2008
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE The H2 MAPT haplotype is associated with familial frontotemporal dementia. 16410051 2006
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE To identify mechanisms possibly involved in disease pathology or progression, a proteomic analysis of proteins isolated from human frontal cortex with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) was performed. 16890190 2006
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Aggregation of the microtubule associated protein Tau is associated with several neurodegenerative disorders, including Alzheimer disease and frontotemporal dementia. 22461630 2012
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. 11912108 2002
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia. 12615641 2003
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation disease BEFREE Here, we describe a new mutation of the tau gene, a T --> C transition at position +11 of the intron following exon 10 (T --> C 3'E10 +11) in the family showing frontotemporal dementia with very early age of onset (the first decade of proband's life). 12441638 2002