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 UNIPROT FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. 10553987 1999
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. 10374757 1999
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. 9736786 1998
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.720 GeneticVariation UNIPROT Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683 1998