rs63751273, MAPT

N. diseases: 42
Disease: Cerebral atrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
0.010 GeneticVariation BEFREE P301L is the tau mutation most frequently observed in patients with frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and this mouse model recapitulates the progressive development of glial and neurofibrillary tangles, and associated cerebral atrophy observed in patients. 29568692 2018