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: rs63750424
rs63750424
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0497327
Disease:
Dementia 		0.030 GeneticVariation BEFREE Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation. 23727082 2014
dbSNP: rs63750424
rs63750424
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0497327
Disease:
Dementia 		0.030 GeneticVariation BEFREE We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene. 18284428 2008
dbSNP: rs63750424
rs63750424
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0497327
Disease:
Dementia 		0.030 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