MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Parkinsonian Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 Biomarker group HPO
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 Biomarker group BEFREE The MAPT gene, located on 17q21 and coding for the human microtubule-associated protein tau, is a strong candidate gene, since tau-positive neuronal inclusions have been observed in brains from some FTDP patients. 9736786 1998
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE These hereditary disorders are known collectively as frontotemporal dementia (FTD) and parkinsonism linked to chromosome 17 (FTDP-17). 9789048 1998
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Different mutations in the microtubule-associated tau protein gene have recently been identified in several families with hereditary frontotemporal dementia and Parkinsonism (FTDP-17) linked to chromosome 17q21-22. 9811325 1998
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE In addition, the recent identification of mutations in the tau gene associated with a similar neurodegenerative condition (frontotemporal dementia and parkinsonism linked to chromosome 17) has further strengthened the argument that tau dysfunction is somehow involved in the pathogenesis of PSP. 9877531 1998
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Missense and splice site mutations in the microtubule-associated protein tau gene were recently found associated with fronto-temporal dementia and parkinsonism linked to chromosome 17 (Poorkaj et al.(1998) Ann.Neurol.43, 815-825; Hutton et al. 10329720 1999
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 Biomarker group BEFREE In addition, the tau gene has been shown to be the disease gene for familial frontotemporal dementia and parkinsonism linked to chromosome 17. 10349506 1999
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Coding region and intronic mutations in the tau gene cause frontotemporal dementia and parkinsonism linked to chromosome 17. 10393977 1999
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Among families, the symptomatology appears to vary in quality and severity in relation to the specific Tau gene mutation and often may include parkinsonism, supranuclear palsies, and/or myoclonus, in addition to dementia. 10412802 1999
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 Biomarker group BEFREE The tau gene is not a primary cause of the parkinsonism dementia complex of Guam. 10430438 1999
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 Biomarker group BEFREE Neurofibrillary tangle parkinsonian disorders--tau pathology and tau genetics. 10495033 1999
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Mutations in coding exons or exon 10 5'-splice-site of the gene for microtubule-associated protein tau can cause chromosome 17-linked frontotemporal dementia and parkinsonism (FTDP-17). 10530520 1999
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Recently, mutations in the tau gene on chromosome 17 were found causative for autosomal dominantly inherited frontotemporal dementia and parkinsonism (FTDP-17). 10553987 1999
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Mutations in the human tau gene cause frontotemporal dementia and parkinsonism linked to chromosome 17. 10595944 1999
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE To date the tau gene located on chromosome 17 has been shown to be implicated in the pathogenesis of several FTD families with parkinsonism, the so called FTDP-17 families. 10683298 2000
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Exonic and intronic mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. 10762152 2000
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 Biomarker group CTD_human Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. 10802785 2000
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. 10802785 2000
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Coding region and intronic mutations in the tau gene cause frontotemporal dementia and parkinsonism linked to chromosome 17. 10805089 2000
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE A new case of frontotemporal dementia and parkinsonism resulting from an intron 10 +3-splice site mutation in the tau gene: clinical and pathological features. 10931371 2000
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Recently a group of frontotemporal dementias with parkinsonism linked to chromosome 17 has been shown to be caused by mutations in the tau gene. 10940231 2000
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Tau is not only a basic component of neurofibrillary degeneration, but is also an aetiological factor, as demonstrated by mutations on the tau gene responsible for frontotemporal dementias with parkinsonism linked to chromosome 17. 10970052 2000
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Reduced binding of protein phosphatase 2A to tau protein with frontotemporal dementia and parkinsonism linked to chromosome 17 mutations. 11032905 2000
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE It is unclear how tau gene mutations cause frontotemporal dementia (FTD) with parkinsonism linked to chromosome 17 (FTDP-17), but those in exon 10 (E10) or the following intron may be pathogenic by altering E10 splicing, perturbing the normal 1:1 ratio of four versus three microtubule-binding repeat tau (4R:3R tau ratio) and forming tau inclusions. 11117541 2000
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Missense and splice-site mutations in the human tau gene are now known to be causes of inherited frontotemporal dementia and parkinsonism linked to chromosome 17, a cognitive disorder of aging. 11163132 2001