rs63750424, MAPT

N. diseases: 30
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.800 CausalMutation CLINVAR
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.760 CausalMutation CLINVAR
Supranuclear Palsy, Progressive, 1, Atypical
CUI: C1850077
Disease: Supranuclear Palsy, Progressive, 1, Atypical
0.700 CausalMutation CLINVAR
Supranuclear Palsy, Progressive, 1
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
0.700 CausalMutation CLINVAR
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.700 CausalMutation CLINVAR
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
0.020 GeneticVariation BEFREE The authors report that the R406W mutation is lacking in 25 unrelated individuals with PSP and in six unrelated individuals with another tauopathy-corticobasal degeneration. 9932968 1999
Corticobasal degeneration
CUI: C0393570
Disease: Corticobasal degeneration
0.010 GeneticVariation BEFREE The authors report that the R406W mutation is lacking in 25 unrelated individuals with PSP and in six unrelated individuals with another tauopathy-corticobasal degeneration. 9932968 1999
Mutism
CUI: C0026884
Disease: Mutism
0.010 GeneticVariation BEFREE Mutism developed significantly later in the R406W family than in the other families. 10514099 1999
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.800 GeneticVariation BEFREE We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 10995239 2000
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.760 GeneticVariation BEFREE We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). 10995239 2000
Senile Plaques
CUI: C0333463
Disease: Senile Plaques
0.020 GeneticVariation BEFREE The first R406W</span> brain showed many NFT in affected regions with only a few diffuse amyloid plaques. 11193139 2000
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.800 GeneticVariation BEFREE The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease. 12368474 2002
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.760 GeneticVariation BEFREE The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease. 12368474 2002
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 GeneticVariation BEFREE Therefore, these mice that exhibit a phenotype mimicking R406W FTDP-17 provide an animal model for investigating the adverse properties associated with this mutation, which might potentially recapitulate some etiological events in Alzheimer's disease. 12368474 2002
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.070 GeneticVariation BEFREE The R406W tau mutation found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) causes a hereditary tauopathy clinically resembling Alzheimer's disease. 12368474 2002
Memory impairment
CUI: C0233794
Disease: Memory impairment
0.020 GeneticVariation BEFREE Tau filament formation and associative memory deficit in aged mice expressing mutant (R406W) human tau. 12368474 2002
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.800 GeneticVariation BEFREE Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M and R406W were established in human neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau, and to develop a cellular model for the formation of filamentous tau characteristic of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease. 12414518 2002
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 GeneticVariation BEFREE Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M and R406W were established in human neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau, and to develop a cellular model for the formation of filamentous tau characteristic of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease. 12414518 2002
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.040 GeneticVariation BEFREE Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history). 12876142 2003
Dementia
CUI: C0497327
Disease: Dementia
0.030 GeneticVariation BEFREE Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history). 12876142 2003
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.070 GeneticVariation BEFREE To examine the effects of tau gene mutations and the role of tau abnormalities in neurodegenerative tauopathies, transgenic (Tg) mice were engineered to express the longest human tau isoform (T40) with or without the R406W mutation (RW and hWT Tg mice, respectively) that is pathogenic for FTDP-17 in several kindreds. 15140937 2004
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.040 GeneticVariation BEFREE The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy. 15178940 2004
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 GeneticVariation BEFREE These results suggest that R406W Tg mice exhibit changes in depression-related behavior involving serotonergic neurons and provide an animal model for investigating AD with depression. 16182262 2005
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.070 GeneticVariation BEFREE Mutant R406W human tau was originally identified in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) and causes a hereditary tauopathy that clinically resembles Alzheimer's disease (AD). 16182262 2005
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
0.010 GeneticVariation BEFREE These results suggest that R406W Tg mice exhibit changes in depression-related behavior involving serotonergic neurons and provide an animal model for investigating AD with depression. 16182262 2005