rs63750424, MAPT

N. diseases: 30
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.040 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 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
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
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
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.800 GeneticVariation BEFREE The MAPT R406W mutation is associated with EOAD-like symptoms and parkinsonism without FTD, as well as distinct cognitive courses. 23727082 2014
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.040 GeneticVariation BEFREE Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation. 23727082 2014
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.030 GeneticVariation BEFREE The MAPT R406W mutation is associated with EOAD-like symptoms and parkinsonism without FTD, as well as distinct cognitive courses. 23727082 2014
Dementia
CUI: C0497327
Disease: Dementia
0.030 GeneticVariation BEFREE Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation. 23727082 2014
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
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.800 GeneticVariation BEFREE The R406W amino acid substitution in Tau is associated with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) characterized by Tau-positive filamentous inclusions. 25794683 2015
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.800 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
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.070 GeneticVariation BEFREE To gain more insights into the pathomechanism of tauopathies, we performed an RNAi-based large-scale screen in Drosophila melanogaster to identify genetic modifiers of Tau[R406W]-induced toxicity. 25794683 2015
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
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
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.760 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
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.070 GeneticVariation BEFREE To evaluate whether tauopathies alter the GABAergic SHP, we analyzed transgenic mice expressing human mutated Tau (mutations G272V, P301L, and R406W, VLW transgenic strain). 27743524 2017