rs63750424, MAPT

N. diseases: 30
Disease: Progressive supranuclear palsy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
0.020 GeneticVariation BEFREE Interestingly, FTLD-tau cases with MAPT mutations had similar patterns and severity of neuropathological features to sporadic FTLD-tau subtypes and could be classified into: Pick's disease (K257T), corticobasal degeneration (S305S, IVS10‰+‰16, R406W), progressive supranuclear palsy (S305S) or globular glial tauopathy (P301L, IVS10‰+‰16). 29253099 2018
Progressive supranuclear palsy
CUI: C0038868
Disease: Progressive supranuclear palsy
0.020 GeneticVariation BEFREE The authors report that the R406W mutation is lacking in 25 unrelated individuals with PSP and in six unrelated individuals with another tauopathy-corticobasal degeneration. 9932968 1999