MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Semantic Dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751273
rs63751273
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338462
Disease:
Semantic Dementia 		0.010 GeneticVariation BEFREE We diagnosed all cases as pure SD and identified a P301L mutation in the MAPT gene of the proband. 21555888 2011