rs63751273, MAPT

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
0.030 GeneticVariation BEFREE JNPL3 transgenic mice expressing human P301L-mutant tau display motor disturbances with age- and gene dose-dependent development of neurofibrillary tangles, suggesting that tau pathology causes neurodegeneration associated with motor behavioral abnormalities. 31308799 2019
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
0.030 GeneticVariation BEFREE Frontotemporal lobar degeneration due to P301L tau mutation showing apathy and severe frontal atrophy but lacking other behavioral changes: A case report and literature review. 29105852 2018
Abnormal behavior
CUI: C0233514
Disease: Abnormal behavior
0.030 GeneticVariation BEFREE The aim of this study was to investigate the behavioral changes in olfaction and alterations in metabolites of nitric oxide, nitrate/nitrite concentration, in the brain of human P301L tau transgenic mice. 26493872 2016