rs63750756, MAPT

N. diseases: 23
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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