rs63751273, MAPT

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.030 GeneticVariation BEFREE Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset Parkinsonism; (2) late parkinsonism associated with FTD; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS. 28268100 2017
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.030 GeneticVariation BEFREE Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon? 23121543 2014
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
0.030 GeneticVariation BEFREE Secondly, either of the two less prevalent genotypes observed in patient 2 may be the factor to modify the phenotype of P301L mutation into those unusual clinical features with prominent parkinsonism. 12111297 2002