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 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 Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy. 31059154 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 Biomarker disease BEFREE Accumulation of microtubule associated protein tau in the substantia nigra is associated with several tauopathies including progressive supranuclear palsy (PSP). 31689387 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 Biomarker disease BEFREE Progressive supranuclear palsy (PSP) is a four-repeat tau proteinopathy. 31695675 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 Biomarker disease BEFREE Progressive supranuclear palsy is a rare neurodegenerative disease associated with dysfunctional tau protein. 31122495 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 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
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 GeneticVariation disease GWASCAT Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy. 31059154 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 GeneticVariation disease BEFREE Pathogenic mutations in the tau gene (microtubule associated protein tau, MAPT) are linked to the onset of tauopathy, but the A152T variant is unique in acting as a risk factor for a range of disorders including Alzheimer's disease (AD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), and dementia with Lewy bodies (DLB). 30674342 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 GeneticVariation disease BEFREE A case-control study was used to investigate the associations between MAPT haplotypes and the risk of PSP, and a case series was conducted for examination of associations of MAPT haplotypes with the severity of tau pathology. 30882841 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 Biomarker disease BEFREE The microtubule-associated protein tau undergoes aberrant modification resulting in insoluble brain deposits in various neurodegenerative diseases, including frontotemporal dementia (FTD), progressive supranuclear palsy, and corticobasal degeneration. 31366728 2019
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 Biomarker disease BEFREE We determined the frequency of beta-amyloid deposition in PSP, and whether beta-amyloid deposition in PSP is associated with PHF-tau deposition pattern, or clinical features. 29254665 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 Biomarker disease BEFREE Tau protein accumulation is the most common pathology among degenerative brain diseases, including Alzheimer's disease (AD), progressive supranuclear palsy (PSP), traumatic brain injury (TBI), and over twenty others. 30126037 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 Biomarker disease BEFREE Clinical value of CSF amyloid-beta-42 and tau proteins in Progressive Supranuclear Palsy. 29948175 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 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
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 Biomarker disease BEFREE Alzheimer's disease and several variants of frontotemporal degeneration including progressive supranuclear palsy and corticobasal degeneration are characterized by the accumulation of abnormal tau protein into aggregates. 29232559 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 GeneticVariation disease BEFREE While PSP is largely considered to be a sporadic disorder, cases with suspected familial inheritance have been identified and the common MAPT H1haplotype is a major genetic risk factor. 29986742 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 Biomarker disease BEFREE In conclusion, the present study indicates that CBD with severe TDP-43 pathology is a distinct clinicopathologic subtype of CBD, characterized by PSP-like clinical presentations, severe tau pathology in the olivopontocerebellar system, and low frequency of MAPT H1 haplotype. 29926172 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 AlteredExpression disease BEFREE Beyond MAPT, we show dysregulation of CXCR4 expression in PSP, PD, and FTD brains, and mouse models of tau pathology. 29636460 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 GeneticVariation disease BEFREE Missense mutations in the microtubule associated protein tau (MAPT) gene have been found to cause familial FTD and PSP, while the P301S mutation in MAPT has been associated with early-onset fast progressive dementia and the presence of seizures. 29621183 2018
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 GeneticVariation disease BEFREE Significant genetic overlap was also found between ALS and PSP at rs7224296, which tags the MAPT H1 haplotype (nearest gene, NSF; P = .045). 29630712 2018
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 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 Biomarker disease BEFREE Progressive supranuclear palsy (PSP) is characterized by the deposition of tau proteins in some specific area such as the basal ganglia and brainstem. 27797445 2017
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.700 GeneticVariation disease BEFREE Neuropathological examination confirmed the PSP diagnosis in the first two subjects; the MAPT P301L mutation carrier had an atypical tauopathy characterized by grain-like tau-containing neurites in gray and white matter with heaviest burden in basal ganglia. 27997036 2017