MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Progressive supranuclear palsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 AlteredExpression disease BEFREE In addition to FTDP-17, altered tau isoform levels are also pathogenically associated with other FTD disorders such as progressive supranuclear palsy (PSP), corticobasal degeneration and Pick's disease; however, the mechanisms remain undefined and mutations in tau have not been detected. 15615630 2005
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE Extensive polymorphic variability at the MAPT gene has also been shown to be a risk factor in progressive supranuclear palsy (PSP). 12826737 2003
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 Biomarker disease BEFREE Neurofibrillary tangles (NFT), one of the histopathological hallmarks of Alzheimer's disease (AD) and progressive supranuclear palsy (PSP), and Pick bodies in Pick's disease (PiD) are composed of microtubule-associated protein tau, which is the product of alternative splicing of a gene on chromosome 17. 10965792 2000
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE A significant association between the tau gene A0/A0 genotype and progressive supranuclear palsy has been reported recently. 10665497 2000
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 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: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE The mechanism by which this common variability in the tau gene influences the development of PSP is unclear; however, it further suggests a central role for tau in the pathogenesis of several neurodegenerative conditions including Alzheimer's disease (AD). 11193178 2000
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 Biomarker disease CTD_human MAPT, the gene encoding tau, was screened for mutations in 96 progressive supranuclear palsy subjects. 12325083 2002
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE Tauopathies, characterized by the dysfunction and aggregation of the microtubule-associated protein tau (MAPT), represent some of the most devastating neurodegenerative disorders afflicting the elderly, including Alzheimer's disease and progressive supranuclear palsy. 17590238 2009
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE Progressive supranuclear palsy (PSP) is associated with microtubule-associated protein tau dysfunction. 29902389 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE They include the largely sporadic Alzheimer's disease, progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), Pick's disease (PiD), argyrophilic grain disease, as well as the inherited frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 15036206 2004
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE Tauopathies are a class of neurodegenerative diseases, including Alzheimer's disease, frontotemporal dementia and progressive supranuclear palsy, which are associated with the pathological aggregation of tau protein into neurofibrillary tangles (NFT). 28610892 2017
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 Biomarker disease BEFREE Recently, an extended haplotype (H1E) of 787.6 kb that comprises several genes including MAPT showed increased association with PSP. 15293277 2004
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 AlteredExpression disease BEFREE High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. 16195395 2005
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 Biomarker disease BEFREE Pick's disease (PiD) is characterized by the deposition of tau protein as three-repeat tau Pick bodies, whereas progressive supranuclear palsy (PSP) involves the deposition of four-repeat tau neurofibrillary tangles. 12177383 2002
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 Biomarker disease BEFREE Progressive supranuclear palsy (PSP) is a neurodegenerative disorder pathologically characterized by intracellular tangles of hyperphosphorylated tau protein distributed throughout the neocortex, basal ganglia, and brainstem. 24252572 2013
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE Common and rare variants in the MAPT gene increase the risk for sporadic FTLD-Tau, including progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). 31631020 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE This study demonstrates that 22 unrelated progressive supranuclear palsy (PSP) patients have four identical sequence variants within the tau gene that are not present in 24 age-matched controls. 10534245 1999
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 Biomarker disease BEFREE The microtubule-associated protein tau is another protein that self-aggregates in specific neurodegenerative diseases that also involve loss of dopamine neurons such as frontotemporal dementia with parkinsonism linked to chromosome 17, progressive supranuclear palsy and corticobasal degeneration. 16554120 2006
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE However, we found a strong association of two H1 sub-haplotypes with PSP and CBD (H1E'C and H1Q), which include MAPT and CRHR1 genes where the risk variant for PSP/CBD could lie. 19022385 2009
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE Characteristic tau isoform composition of the insoluble fibrillar tau inclusions define tauopathies, including Alzheimer's disease (AD), progressive supranuclear palsy (PSP) and frontotemporal dementia with parkinsonism linked to chromosome 17/frontotemporal lobar degeneration-tau (FTDP-17/FTLD-tau). 22862741 2012
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE A PSP syndrome is only a rare finding associated with MAPT mutations and many of these cases have atypical clinical features. 20838030 2011
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 AlteredExpression disease LHGDN Tau aggregation is one of the major features in Alzheimer's disease and in several other tauopathies, including frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), and progressive supranuclear palsy (PSP). 19090983 2008
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 AlteredExpression disease BEFREE Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer's disease and progressive supranuclear palsy brains. 28974731 2017
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease LHGDN Strong genetic evidences for the involvement of the tau gene variability in the pathogenesis of PSP have been demonstrated in several Caucasian populations. 15266787 2004
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		0.700 GeneticVariation disease BEFREE These results are consistent with the hypothesis that a change either in the 5' or in the 3' flanking regions of the tau gene, or even other genes contained in the H1E haplotype, could increase the genetic susceptibility to PSP. 12112206 2002