MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 CausalMutation disease CLINVAR
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene. 14568818 2003
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil. 27082848 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing. 19498037 2009
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells. 26373282 2015
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. 19786698 2009
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's disease. 9641683 1998
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. 17715352 2007
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. 19365643 2009
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR The Human Tau Interactome: Binding to the Ribonucleoproteome, and Impaired Binding of the Proline-to-Leucine Mutant at Position 301 (P301L) to Chaperones and the Proteasome. 26269332 2015
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations. 26220942 2015
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Investigating degeneration of the retina in young and aged tau P301L mice. 25592136 2015
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Genotype-specific differences between mouse CNS stem cell lines expressing frontotemporal dementia mutant or wild type human tau. 22723997 2012
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. 10412802 1999
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 CausalMutation disease CLINVAR The genetic and pathological classification of familial frontotemporal dementia. 11708988 2001
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. 10489057 1999
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Transgenic mice expressing mutant (N279K) human tau show mutation dependent cognitive deficits without neurofibrillary tangle formation. 16219306 2005
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Functional characterization of FTDP-17 tau gene mutations through their effects on Xenopus oocyte maturation. 11756436 2002
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 CausalMutation disease CLINVAR Neurodegenerative disorder FTDP-17-related tau intron 10 +16C → T mutation increases tau exon 10 splicing and causes tauopathy in transgenic mice. 23680655 2013
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. 11912108 2002
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Intrafamilial clinical phenotypic heterogeneity with MAPT gene splice site IVS10+16C>T mutation. 19766248 2009
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations. 20045477 2010
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 CausalMutation disease CLINVAR Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation. 11971081 2002