Gene: MAPT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751273
rs63751273
MAPT
0.040 GeneticVariation BEFREE While tau modification and associated neuronal loss and hypometabolism start in the entorhinal cortex (EC) in early AD patients, the mechanism by which mutant P301L hTau leads to dementia is not fully elucidated. 28634382

2017
dbSNP: rs63751273
rs63751273
MAPT
0.040 GeneticVariation BEFREE Altogether, these results suggest a sex dependent neuroprotective effect of LFPD in P301L-tg mice, suggesting that lifestyle intervention strategies may be clinically relevant for delaying the onset of cognitive impairment and dementia, especially in females. 28456717

2017
dbSNP: rs63750424
rs63750424
MAPT
0.040 GeneticVariation BEFREE Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation. 23727082

2014
dbSNP: rs63750424
rs63750424
MAPT
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
dbSNP: rs63750424
rs63750424
MAPT
0.040 GeneticVariation BEFREE The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy. 15178940

2004
dbSNP: rs63750424
rs63750424
MAPT
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
dbSNP: rs63751273
rs63751273
MAPT
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
dbSNP: rs63751273
rs63751273
MAPT
0.040 GeneticVariation BEFREE Tau pathology in a family with dementia and a P301L mutation in tau. 10218629

1999
dbSNP: rs63750756
rs63750756
MAPT
0.030 GeneticVariation BEFREE However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia. 26295349

2015
dbSNP: rs63750376
rs63750376
MAPT
0.030 GeneticVariation BEFREE Single point mutations are sufficient to control this conformational switch with disease mutants G272V and DeltaK280 (found in familial forms of dementia) inducing a folded state. 17023423

2006
dbSNP: rs63750376
rs63750376
MAPT
0.030 GeneticVariation BEFREE Further clinical-genetic investigation showed a positive family history of FTD-like dementia and suggested that Gly183Val is associated with a phenotypically heterogeneous neurodegenerative disorder. 15122701

2004
dbSNP: rs63750376
rs63750376
MAPT
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
dbSNP: rs63750756
rs63750756
MAPT
0.030 GeneticVariation BEFREE An N279K missense mutation in exon 10 of the tau gene reported in an American family with pallidopontonigral degeneration (PPND family) was recently found in members of a French kindred with dementia and supranuclear palsy. 12056930

2002
dbSNP: rs63750756
rs63750756
MAPT
0.030 GeneticVariation BEFREE A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. 10412802

1999
dbSNP: rs63750635
rs63750635
MAPT
0.020 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
dbSNP: rs63750635
rs63750635
MAPT
0.020 GeneticVariation BEFREE In this article, we describe a novel missense mutation, S320F, in the tau gene in a family with presenile dementia. 11891833

2002
dbSNP: rs242557
rs242557
MAPT
0.010 GeneticVariation BEFREE The microtubule-associated protein tau gene (<i>MAPT</i>) rs242557 variant is associated with multiple tauopathies and dementia. 30708351

2019
dbSNP: rs767543900
rs767543900
MAPT
0.010 GeneticVariation BEFREE Moreover, cerebrospinal fluid (CSF) levels of tau, p-tau and amyloid Aβ42 were measured in these patients and in an additional cohort of 5 symptomatic and 2 asymptomatic p.A53T carriers without an initial manifestation of dementia. 28012952

2017
dbSNP: rs63751438
rs63751438
MAPT
0.010 GeneticVariation BEFREE P301S mutant human tau transgenic mice manifest early symptoms of human tauopathies with dementia and altered sensorimotor gating. 21698260

2011
dbSNP: rs63749855
rs63749855
MAPT
0.010 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
dbSNP: rs63750959
rs63750959
MAPT
0.010 GeneticVariation BEFREE Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the patient's tau pathology and late-onset dementia. 11921059

2002
dbSNP: rs63750512
rs63750512
MAPT
0.010 GeneticVariation BEFREE The present findings indicate that the G389R mutation in Tau can cause a dementia similar to that in Pick's disease. 11193177

2000