rs63750756, MAPT

N. diseases: 23
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 CausalMutation CLINVAR
Supranuclear Palsy, Progressive, 1
CUI: C4551863
Disease: Supranuclear Palsy, Progressive, 1
0.700 CausalMutation CLINVAR
Supranuclear Palsy, Progressive, 1, Atypical
CUI: C1850077
Disease: Supranuclear Palsy, Progressive, 1, Atypical
0.700 CausalMutation CLINVAR
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.700 CausalMutation CLINVAR
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
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 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 Frontotemporal Dementia-Associated N279K Tau Mutation Localizes at the Nuclear Compartment. 30050413 2018
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 CausalMutation CLINVAR A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene. 14568818 2003
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 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
0.900 GeneticVariation UNIPROT A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation. 11071507 2000
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
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
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 CausalMutation CLINVAR A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. 10412802 1999
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
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation UNIPROT A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. 10489057 1999
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 CausalMutation CLINVAR A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. 10489057 1999
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 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
0.900 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
0.900 GeneticVariation UNIPROT Accelerated filament formation from tau protein with specific FTDP-17 missense mutations. 10214944 1999
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
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