MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750959
rs63750959
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0497327
Disease:
Dementia
0.010 GeneticVariation BEFREE Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the patient's tau pathology and late-onset dementia. 11921059 2002