rs63750756, MAPT

N. diseases: 23
Disease: Pallidopontonigral degeneration ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pallidopontonigral degeneration
CUI: C0520716
Disease: Pallidopontonigral degeneration
0.040 GeneticVariation BEFREE Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation). 17196872 2007
Pallidopontonigral degeneration
CUI: C0520716
Disease: Pallidopontonigral degeneration
0.040 GeneticVariation BEFREE Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family. 12056930 2002
Pallidopontonigral degeneration
CUI: C0520716
Disease: Pallidopontonigral degeneration
0.040 GeneticVariation BEFREE Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17. 12492138 2002
Pallidopontonigral degeneration
CUI: C0520716
Disease: Pallidopontonigral degeneration
0.040 GeneticVariation BEFREE 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