rs63751273, MAPT

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.040 GeneticVariation BEFREE While tau modification and associated neuronal loss and hypometabolism start in the entorhinal cortex (EC) in early AD patients, the mechanism by which mutant P301L hTau leads to dementia is not fully elucidated. 28634382 2017
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.040 GeneticVariation BEFREE Altogether, these results suggest a sex dependent neuroprotective effect of LFPD in P301L-tg mice, suggesting that lifestyle intervention strategies may be clinically relevant for delaying the onset of cognitive impairment and dementia, especially in females. 28456717 2017
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.040 GeneticVariation BEFREE Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history). 12876142 2003
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.040 GeneticVariation BEFREE Tau pathology in a family with dementia and a P301L mutation in tau. 10218629 1999