rs63750416, MAPT

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation BEFREE In contrast, Aβ<sub>42</sub> did not reduce LTP in slices in two independently generated transgenic lines expressing tau protein with the mutation N296H associated with frontotemporal dementia (FTD). 28484365 2017
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.020 GeneticVariation BEFREE In contrast, Aβ<sub>42</sub> did not reduce LTP in slices in two independently generated transgenic lines expressing tau protein with the mutation N296H associated with frontotemporal dementia (FTD). 28484365 2017
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
0.010 GeneticVariation BEFREE Furthermore, N296H animals displayed behavioural anomalies such as hyperactivity, increased time in the open arms of the elevated plus maze and increased immobility during the tail suspension test. 28233851 2017
Tauopathies
CUI: C0949664
Disease: Tauopathies
0.010 GeneticVariation BEFREE Increased 4R tau expression and behavioural changes in a novel MAPT-N296H genomic mouse model of tauopathy. 28233851 2017