rs63751273, MAPT

N. diseases: 42
Disease: Frontotemporal dementia ×
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
0.900 GeneticVariation BEFREE Neurofibrillary pathology was produced in the brains of adult rats after localized gene transfer of human tau carrying the P301L mutation, which is associated with frontotemporal dementia with parkinsonism. 14695347 2004
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation BEFREE Frontotemporal dementia: impact of P301L tau mutation on a healthy carrier. 15489396 2004
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation BEFREE Twenty-six patients with FTD (9 with tau mutations 7 P301L and 2 G272V), 18 patients with Alzheimer disease (AD), and 13 nondemented controls. 12975285 2003
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 CausalMutation CLINVAR Functional characterization of FTDP-17 tau gene mutations through their effects on Xenopus oocyte maturation. 11756436 2002
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation BEFREE Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17. 12111297 2002
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation BEFREE Mutations in the microtubule-associated protein tau, including P301L, are genetically coupled to hereditary frontotemporal dementia with parkinsonism linked to chromosome 17. 11013246 2001
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation BEFREE We identified 2 missense mutations in exon 10: N279K and P301L in 2 Japanese patients with familial FTD. 11598310 2001
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation BEFREE Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients. 11115852 2000
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation BEFREE A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) 10219785 1999
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 CausalMutation CLINVAR Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683 1998
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.900 GeneticVariation BEFREE The Pro301Leu mutation was not observed in either 50 unrelated French controls or in 11 patients with sporadic frontotemporal dementia. 9736786 1998