rs63750424, MAPT

N. diseases: 30
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 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
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
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 GeneticVariation BEFREE Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation. 18284428 2008
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 GeneticVariation BEFREE Among different MAPT mutations, the R406W mutation has been reported with a phenotype resembling Alzheimer's disease. 26086902 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 GeneticVariation BEFREE The MAPT c.1216C > T (p.Arg406Trp; R406W) mutation is a known cause of frontotemporal dementia with Parkinsonism linked to chromosome 17 tau with Alzheimer's disease-like clinical features. 29370822 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.080 GeneticVariation BEFREE The R406W tau mutation is a unique missense mutation whose patients have been reported to exhibit Alzheimer's disease (AD)-like phenotypes rather than the more typical FTD phenotypes. 31543469 2019
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
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
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
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
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
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
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
Dementia
CUI: C0497327
Disease: Dementia
0.030 GeneticVariation BEFREE Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation. 23727082 2014
Dementia
CUI: C0497327
Disease: Dementia
0.030 GeneticVariation BEFREE We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene. 18284428 2008
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
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
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
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
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
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.800 GeneticVariation BEFREE Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia. 27345791 2016
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.800 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
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