rs63750756, MAPT

N. diseases: 23
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.020 GeneticVariation BEFREE We previously established a transgenic mouse with human N279K mutant tau as a model for FTDP-17, which showed cognitive dysfunctions caused by the mutant. 22169201 2012
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.020 GeneticVariation BEFREE The behavioral phenotype of N279K mice mimics features of human FTDP-17 and provides a basic model for elucidating mechanisms underlying cognitive deficits in not only FTDP-17, but also diverse tauopathies. 16219306 2005