MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Primary Progressive Nonfluent Aphasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762104961
rs762104961
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0751706
Disease:
Primary Progressive Nonfluent Aphasia 		0.010 GeneticVariation BEFREE We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. 27439681 2016