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: rs63751438
rs63751438
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0497327
Disease:
Dementia 		0.020 GeneticVariation BEFREE Missense mutations in the microtubule associated protein tau (MAPT) gene have been found to cause familial FTD and PSP, while the P301S mutation in MAPT has been associated with early-onset fast progressive dementia and the presence of seizures. 29621183 2018
dbSNP: rs63751438
rs63751438
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0497327
Disease:
Dementia 		0.020 GeneticVariation BEFREE P301S mutant human tau transgenic mice manifest early symptoms of human tauopathies with dementia and altered sensorimotor gating. 21698260 2011