MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Motor symptoms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2435207
rs2435207
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0426980
Disease:
Motor symptoms 		0.010 GeneticVariation BEFREE Recently, it was reported that a variation (rs2435207) in the MAPT gene region influenced the age of motor symptoms onset (AO) in 44 PD patients from 19 families, carriers of leucine-rich repeat kinase 2 (LRRK2) mutations, all of European and North American origin. 21898123 2012
dbSNP: rs63751273
rs63751273
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0426980
Disease:
Motor symptoms 		0.010 GeneticVariation BEFREE We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17) (T-279, P301L or P301L-nitric oxide synthase 2 (NOS2)(-/-) mice) and that demonstrate motor symptoms. 17764851 2007