rs63750756, MAPT

N. diseases: 23
Disease: Pick Disease of the Brain ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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 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 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 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
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 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 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 CausalMutation CLINVAR