rs63750416, MAPT

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
0.010 GeneticVariation BEFREE Furthermore, N296H animals displayed behavioural anomalies such as hyperactivity, increased time in the open arms of the elevated plus maze and increased immobility during the tail suspension test. 28233851 2017
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.010 GeneticVariation BEFREE Increased 4R tau expression and behavioural changes in a novel MAPT-N296H genomic mouse model of tauopathy. 28233851 2017
Dementia in Parkinson's disease
CUI: C0349081
Disease: Dementia in Parkinson's disease
0.010 GeneticVariation BEFREE Two of these mutations, N296N and N296H, lead to a clinical syndrome similar to autosomal dominant fronto-temporal dementia with Parkinsonism linked to chromosome 17. 11911984 2002
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
0.010 GeneticVariation BEFREE We report a 62-year-old Japanese man with familial frontotemporal dementia and a novel missense mutation (N296H) in exon 10 of the tau gene. 11585254 2001
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.010 GeneticVariation BEFREE Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells. 11585254 2001
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.020 GeneticVariation BEFREE In contrast, Aβ<sub>42</sub> did not reduce LTP in slices in two independently generated transgenic lines expressing tau protein with the mutation N296H associated with frontotemporal dementia (FTD). 28484365 2017
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.020 GeneticVariation BEFREE Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells. 11585254 2001
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation BEFREE In contrast, Aβ<sub>42</sub> did not reduce LTP in slices in two independently generated transgenic lines expressing tau protein with the mutation N296H associated with frontotemporal dementia (FTD). 28484365 2017
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Phenotypic heterogeneity within a new family with the MAPT p301s mutation. 16240366 2005
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease. 15883319 2005
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. 12509859 2003
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe. 14517953 2003
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Functional effects of tau gene mutations deltaN296 and N296H. 11906000 2002
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Early-onset, rapidly progressive familial tauopathy with R406W mutation. 11889249 2002
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). 12473774 2002
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. 11921059 2002
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Effects of FTDP-17 mutations on the in vitro phosphorylation of tau by glycogen synthase kinase 3beta identified by mass spectrometry demonstrate certain mutations exert long-range conformational changes. 11278002 2001
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation BEFREE Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells. 11585254 2001
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells. 11585254 2001
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation. 11071507 2000
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation. 11117541 2000
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. 10802785 2000
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Accelerated filament formation from tau protein with specific FTDP-17 missense mutations. 10214944 1999
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT A distinct familial presenile dementia with a novel missense mutation in the tau gene. 10208578 1999
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. 10489057 1999