rs63750756, MAPT

N. diseases: 23
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary Progressive Nonfluent Aphasia
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
0.010 GeneticVariation BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648 2016
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.010 GeneticVariation BEFREE Pallido-ponto-nigral degeneration (PPND), a major subtype of frontotemporal dementia with parkinsonism related to chromosome 17 (FTDP-17), is a progressive and terminal neurodegenerative disease caused by c.837 T > G mutation in the MAPT gene encoding microtubule-associated protein tau (rs63750756; N279K). 26373282 2015
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE The Swedish mutation (K595N/M596L) of amyloid precursor protein (APP-swe) has been known to increase abnormal cleavage of cellular APP by Beta-secretase (BACE), which causes tau protein hyperphosphorylation and early-onset Alzheimer's disease (AD). 21034535 2010
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
0.010 GeneticVariation BEFREE Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice site mutations showed tau pathology characterised by neuronal neurofibrillary tangles (NFT) and glial cell tangles that contained only 4R-tau isoforms, as did the NFT in P301L MAPT mutation. 16552612 2006
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
0.010 GeneticVariation BEFREE The behavioral phenotype of N279K mice mimics features of human FTDP-17 and provides a basic model for elucidating mechanisms underlying cognitive deficits in not only FTDP-17, but also diverse tauopathies. 16219306 2005
Myoclonus
CUI: C0027066
Disease: Myoclonus
0.010 GeneticVariation BEFREE Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation. 12573870 2003
Tremor
CUI: C0040822
Disease: Tremor
0.010 GeneticVariation BEFREE Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation. 12573870 2003
Hyperkinesia
CUI: C3887506
Disease: Hyperkinesia
0.010 GeneticVariation BEFREE We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation.Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiology can detect abnormalities in asymptomatic cases. 12573870 2003
Autonomic nervous system disorders
CUI: C1145628
Disease: Autonomic nervous system disorders
0.010 GeneticVariation BEFREE Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17. 12492138 2002
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
0.010 GeneticVariation BEFREE Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17. 12492138 2002
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.020 GeneticVariation BEFREE We previously established a transgenic mouse with human N279K mutant tau as a model for FTDP-17, which showed cognitive dysfunctions caused by the mutant. 22169201 2012
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.020 GeneticVariation BEFREE The behavioral phenotype of N279K mice mimics features of human FTDP-17 and provides a basic model for elucidating mechanisms underlying cognitive deficits in not only FTDP-17, but also diverse tauopathies. 16219306 2005
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
0.020 GeneticVariation BEFREE In open field test, N279K mice showed hyperactivity in locomotion and rearing. 16219306 2005
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
0.020 GeneticVariation BEFREE We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation.Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiology can detect abnormalities in asymptomatic cases. 12573870 2003
Supranuclear paralysis
CUI: C0270920
Disease: Supranuclear paralysis
0.020 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
Supranuclear paralysis
CUI: C0270920
Disease: Supranuclear paralysis
0.020 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
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
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
Dementia
CUI: C0497327
Disease: Dementia
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.030 GeneticVariation BEFREE The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. 17715352 2007
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.030 GeneticVariation BEFREE The behavioral phenotype of N279K mice mimics features of human FTDP-17 and provides a basic model for elucidating mechanisms underlying cognitive deficits in not only FTDP-17, but also diverse tauopathies. 16219306 2005
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
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
Dementia
CUI: C0497327
Disease: Dementia
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
Tauopathies
CUI: C0949664
Disease: Tauopathies
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
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
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
Dementia
CUI: C0497327
Disease: Dementia
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