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: rs63750570
rs63750570
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0497327
Disease:
Dementia 		0.010 GeneticVariation BEFREE Because the mutations (V337M, P301L) are associated with genetic tauopathies, these results suggest that a factor in disease etiology of genetic tauopathies and other dementias with altered tau is a greater abundance of tau in the cytoplasm due to decreased binding to microtubules. 11170176 2001