Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750756
rs63750756
MAPT
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
dbSNP: rs63750756
rs63750756
MAPT
0.800 GeneticVariation BEFREE Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment. 30050413

2018
dbSNP: rs63750756
rs63750756
MAPT
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
dbSNP: rs63750756
rs63750756
MAPT
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
dbSNP: rs63750756
rs63750756
MAPT
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
dbSNP: rs63750756
rs63750756
MAPT
0.800 GeneticVariation BEFREE Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation. 17319286

2007
dbSNP: rs63750756
rs63750756
MAPT
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
dbSNP: rs63750756
rs63750756
MAPT
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
dbSNP: rs63750756
rs63750756
MAPT
0.800 GeneticVariation BEFREE Increased exon 10 inclusion in FTDP mutant ENH (N279K) may arise from abolishing SRp30c binding. 15695522

2005
dbSNP: rs63750756
rs63750756
MAPT
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
dbSNP: rs63750756
rs63750756
MAPT
0.800 GeneticVariation BEFREE Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. 10802785

2000
dbSNP: rs63750756
rs63750756
MAPT
G 0.800 CausalMutation CLINVAR