rs63750424, MAPT

N. diseases: 30
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Behavioral Symptoms
CUI: C0004941
Disease: Behavioral Symptoms
0.010 GeneticVariation BEFREE R406W homozygotes had an earlier age at onset and a higher frequency of behavioral symptoms and Parkinsonism than heterozygotes. 29370822 2018
Memory Loss
CUI: C0751295
Disease: Memory Loss
0.010 GeneticVariation BEFREE MAPT p.R406W carriers present clinically with progressive memory loss and neuropathologically with neuronal and glial tauopathy. 30546007 2018
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
0.010 GeneticVariation BEFREE Ten FTLD-tau cases with a MAPT mutation (K257T, S305S, P301L, IVS10+16, R406W) were screened for the core differentiating neuropathological features used to diagnose the different sporadic FTLD-tau subtypes to determine whether the categorical separation of MAPT mutations from sporadic FTLD-tau is valid. 29253099 2018
Amnesia
CUI: C0002622
Disease: Amnesia
0.010 GeneticVariation BEFREE MAPT p.R406W carriers present clinically with progressive memory loss and neuropathologically with neuronal and glial tauopathy. 30546007 2018
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE The MAPT R406W mutation is associated with EOAD-like symptoms and parkinsonism without FTD, as well as distinct cognitive courses. 23727082 2014
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
0.010 GeneticVariation BEFREE Our results prove that combination of the V337M and R406W mutations of tau accelerates human tau phosphorylation and induces tau pathology as well as cognitive deficits, making this model a suitable tool for basic research on tau as well as in vivo drug testing. 22797329 2013
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.010 GeneticVariation BEFREE Our results prove that combination of the V337M and R406W mutations of tau accelerates human tau phosphorylation and induces tau pathology as well as cognitive deficits, making this model a suitable tool for basic research on tau as well as in vivo drug testing. 22797329 2013
Familial Alzheimer's disease of early onset
CUI: C0338445
Disease: Familial Alzheimer's disease of early onset
0.010 GeneticVariation BEFREE These observations suggest that although PSEN1 mutations are the most frequent cause, the MAPT R406W mutation is an important cause of early-onset familial dementia clinically diagnosed as AD. 18587238 2008
Language Problems
CUI: C1405458
Disease: Language Problems
0.010 GeneticVariation BEFREE The mean age at onset of the patients carrying the R406W mutation was 52 years, and they presented with the peculiar AD-like phenotype without apparent behavioral or language problems. 18587238 2008
Familial Dementia
CUI: C0751071
Disease: Familial Dementia
0.010 GeneticVariation BEFREE These observations suggest that although PSEN1 mutations are the most frequent cause, the MAPT R406W mutation is an important cause of early-onset familial dementia clinically diagnosed as AD. 18587238 2008
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
Mental Depression
CUI: C0011570
Disease: Mental Depression
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
Depressed mood
CUI: C0344315
Disease: Depressed mood
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
Anxiety Disorders
CUI: C0003469
Disease: Anxiety Disorders
0.010 GeneticVariation BEFREE In contrast, the motor function and anxiety-related emotional response of R406W Tg mice were normal. 16182262 2005
Anxiety
CUI: C0003467
Disease: Anxiety
0.010 GeneticVariation BEFREE In contrast, the motor function and anxiety-related emotional response of R406W Tg mice were normal. 16182262 2005
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
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
0.020 GeneticVariation 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
Memory impairment
CUI: C0233794
Disease: Memory impairment
0.020 GeneticVariation BEFREE R406W patients often show a long course of disease with marked memory deficits. 29370822 2018
Senile Plaques
CUI: C0333463
Disease: Senile Plaques
0.020 GeneticVariation BEFREE Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPT R406W mutation presenting with a broad distribution of abundant senile plaques. 25377499 2015
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
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
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
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.030 GeneticVariation 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
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.030 GeneticVariation BEFREE R406W homozygotes had an earlier age at onset and a higher frequency of behavioral symptoms and Parkinsonism than heterozygotes. 29370822 2018