rs63750756, MAPT

N. diseases: 23
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation UNIPROT Accelerated filament formation from tau protein with specific FTDP-17 missense mutations. 10214944 1999
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation UNIPROT The N279K mutation is a causative genetic defect for pallidopontonigral degeneration in an American kindred that presents with frontotemporal dementia (FTD) and parkinsonism. 10802785 2000
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation BEFREE Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation. 17319286 2007
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation BEFREE [<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT. 30773680 2019
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 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
0.900 GeneticVariation BEFREE Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17. 21681797 2011
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation BEFREE Increased exon 10 inclusion in FTDP mutant ENH (N279K) may arise from abolishing SRp30c binding. 15695522 2005
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation UNIPROT Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. 11921059 2002
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.800 GeneticVariation BEFREE Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells. 26373282 2015
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.800 GeneticVariation BEFREE The objective of this clinical-pathologic study was to identify biomarkers for a pallidopontonigral degeneration (PPND) kindred of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) harboring the N279K tau mutation. 17196872 2007
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.800 GeneticVariation BEFREE Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment. 30050413 2018
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.800 GeneticVariation BEFREE [<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT. 30773680 2019
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.800 GeneticVariation BEFREE Increased exon 10 inclusion in FTDP mutant ENH (N279K) may arise from abolishing SRp30c binding. 15695522 2005
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.800 GeneticVariation BEFREE Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17. 21681797 2011
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.800 GeneticVariation BEFREE Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation. 17319286 2007
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.800 GeneticVariation BEFREE Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. 10802785 2000
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.800 GeneticVariation BEFREE Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17. 12492138 2002
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.800 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
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.800 GeneticVariation BEFREE Here we show that Lrrk2 is closely associated with the tau-positive inclusions in eight members of a family with frontotemporal dementia of the pallido-ponto-nigral degeneration type linked to the chromosome 17 N279K tau mutation (N279K/FTDP-17/PPND). 17639429 2007
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.100 GeneticVariation BEFREE Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17. 21681797 2011
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.100 GeneticVariation BEFREE [<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT. 30773680 2019
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.100 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
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.100 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
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.100 GeneticVariation BEFREE A mutation in exon 10 of the tau gene, N279K, causes a particular kindred of FTDP-17, which is predominant for parkinsonism. 22169201 2012
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.100 GeneticVariation BEFREE Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17. 12492138 2002