MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Semantic Dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 GeneticVariation disease BEFREE There are three major associated clinical syndromes, behavioral variant frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA); three principal histologies, involving tau, TDP-43 and FUS proteins; and mutations in three major genes, MAPT, GRN and C9orf72, along with several other less common gene mutations. 28100023 2017
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 SusceptibilityMutation disease ORPHANET Clinic, neuropathology and molecular genetics of frontotemporal dementia: a mini-review. 23597030 2013
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 GeneticVariation disease BEFREE We diagnosed all cases as pure SD and identified a P301L mutation in the MAPT gene of the proband. 21555888 2011
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 GeneticVariation disease BEFREE This is the description of an association between a mutation in the MAPT gene and a case of SD. 20598713 2010
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 GeneticVariation disease BEFREE The presence of signs of lower MND and SD correlated with FTLD-U.A genetic study of MAPT is only recommended when familial history of early onset DFT is present. 18357425 2008
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 Biomarker disease CTD_human Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. 16495328 2006
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 GeneticVariation disease BEFREE However, for FTD with motor neurone disease (FTD+MND), semantic dementia or primary progressive aphasia (PA), the histological profile was either ubiquitin type or DLDH type; Pick-type histology was seen in only 1 case of PA. None of these latter three clinical subtypes was associated with a mutation in tau gene and FTDP-17 type of tau pathology. 16222525 2005
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 Biomarker disease CTD_human Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. 11912108 2002
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 AlteredExpression disease BEFREE These results indicate that semantic dementia is a rather uncommon but clinically distinct condition which shows a moderate increase of CSF tau protein levels and for which the epsilon4 allele is a risk factor. 11072138 2000
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 Biomarker disease CTD_human Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. 10802785 2000
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 Biomarker disease CTD_human Pick's disease is associated with mutations in the tau gene. 11117542 2000
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 Biomarker disease CTD_human Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. 9789048 1998
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.560 Biomarker disease CTD_human Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. 9641683 1998