MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750635
rs63750635
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0497327
Disease:
Dementia 		0.010 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