MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Frontotemporal dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Microtubule-associated protein tau (MAPT) gene is compelling among the susceptibility genes of neurodegenerative diseases which include Alzheimer's disease (AD), Parkinson's disease (PD), progressive supranuclear palsy (PSP), corticobasal degeneration (CBD), frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). 28402959 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 Biomarker disease BEFREE In addition, MAPT and CHCHD10 might be more important genes affecting Chinese with FTD. 28462717 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Rapidly Progressive Frontotemporal Dementia Associated with MAPT Mutation G389R. 27802239 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Mutations in microtubule-associated protein tau gene (MAPT) cause frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). 27529406 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Mutations in the tau gene are associated with familial forms of frontotemporal dementia with Parkinsonism linked to chromosome-17 (FTDP-17). 26852117 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 Biomarker disease BEFREE Healthy, at-risk, first-degree relatives of patients with FTD who had a MAPT (n = 13) or GRN mutation (n = 30) and healthy controls (n = 39) underwent neuropsychological assessment at baseline and 2-year follow-up. 27358337 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Mutations of VCP, GRN and MAPT genes are present in Chinese FTD cases. 27439681 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 AlteredExpression disease BEFREE Surprisingly, we found that most of the FTLD-TDP-GRN brains are characterized by a huge reduction of Tau protein expression without any decrease in Tau mRNA levels. 27435172 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a P301L mutation in microtubule-associated protein tau (MAPT). 27345788 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene. 27789409 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE We investigated the volumetry of the cerebellum and its subregions in a cohort of 44 patients with genetic FTD (20 MAPT, 7 GRN, and 17 C9orf72 mutation carriers) compared with 18 cognitively normal controls. 26977398 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE We evaluated olfactory dysfunction in 28 carriers of two MAPT mutations (p.N279K, p.P301L), which cause frontotemporal dementia with parkinsonism, using the University of Pennsylvania Smell Identification Test. 27855167 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR [18F]AV-1451 PET in behavioral variant frontotemporal dementia due to MAPT mutation. 28097206 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Mutations in the tau-encoding MAPT gene identified in familial cases of FTD have been used to generate transgenic mouse models of the human condition. 27521751 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE 'Microtubule-associated protein tau' (MAPT), 'granulin' (GRN) and 'chromosome 9 open reading frame72' (C9ORF72) gene mutations are the major known genetic causes of frontotemporal dementia (FTD). 27632209 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Abnormal tau accumulations were observed and documented in post-mortem brains of patients affected by Alzheimer's disease (AD) long before the identification of mutations in the Microtubule-associated protein tau (MAPT) gene, encoding the tau protein, in a different neurodegenerative disease called Frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17). 26756400 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Generation of an isogenic, gene-corrected iPSC line from a symptomatic 59-year-old female patient with frontotemporal dementia caused by an R406W mutation in the microtubule associated protein tau (MAPT) gene. 27934586 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE These findings provide insights into the molecular pathogenesis of FTD and suggest a potential therapeutic target for FTD with MAPT mutations. 27594586 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population. 27439681 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Almost 80 disease-causing exonic missense and intronic silent mutations in the tau gene have been found in familial cases of frontotemporal dementia but, to date, no such mutation has been found in AD. 26635213 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 Biomarker disease BEFREE MAPT H1 was also associated with risk for PD (OR = 1.30; p = 0.0003) and PSP (OR = 3.18; p = 8.59 × 10-8) but not FTD. 26444794 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia. 27345791 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE Induced pluripotent stem cells (iPSCs) derived from a symptomatic carrier of a S305I mutation in the microtubule-associated protein tau (MAPT)-gene causing frontotemporal dementia. 27789411 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Hyperactivity with Agitative-Like Behavior in a Mouse Tauopathy Model. 26519432 2016
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation disease BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648 2016