Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.900 Biomarker CTD_human Suberoylanilide hydroxamic acid (vorinostat) up-regulates progranulin transcription: rational therapeutic approach to frontotemporal dementia. 21454553

2011
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.900 Biomarker CTD_human Progranulin, a glycoprotein deficient in frontotemporal dementia, is a novel substrate of several protein disulfide isomerase family proteins. 22028881

2011
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 Biomarker CTD_human Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene. 11912108

2002
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 Biomarker CTD_human For these reasons, we investigated the possibility that PPND and other FTDP-17 syndromes might be caused by mutations in the tau gene. 9789048

1998
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 Biomarker CTD_human Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. 10802785

2000
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 Biomarker CTD_human The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia. 11094121

2000
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 Biomarker CTD_human Mutations in microtubule associated protein tau (MAPT) are detected in approximately 30% of familial FTD kindreds. 16495328

2006
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 Biomarker CTD_human Recently, mutations within the tau gene have been associated with some familial forms of frontotemporal dementia. 11117542

2000
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 Biomarker CTD_human 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
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.700 Biomarker CTD_human Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. 16041373

2005
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism. 9736786

1998
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT Effects of FTDP-17 mutations on the in vitro phosphorylation of tau by glycogen synthase kinase 3beta identified by mass spectrometry demonstrate certain mutations exert long-range conformational changes. 11278002

2001
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe. 14517953

2003
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT Frontotemporal dementia with parkinsonism is often linked to chromosome 17 and is related to mutations in the MAPT gene. 15883319

2005
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT We report a Japanese family with early onset hereditary frontotemporal dementia and a novel missense mutation (Ser305Asn) in the tau gene. 10208578

1999
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology. 12509859

2003
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT An autosomal-dominantly form of frontotemporal dementia and parkinsonism linked to chromosome 17q21.2 (FTDP-17) was defined in 1996. 26086902

2015
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation. 11921059

2002
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutation. 11071507

2000
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT These findings suggest that tau proteins are not always assembled in abnormal filaments such as twisted ribbons, paired helical filaments and straight tubules in neurons and glial cells, which have been shown in previous cases with frontotemporal dementia and parkinsonism linked to chromosome 17. 11585254

2001
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT Recently, mutations in the tau gene on chromosome 17 were found causative for autosomal dominantly inherited frontotemporal dementia and parkinsonism (FTDP-17). 10553987

1999
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT We report on a 55-year old woman with frontotemporal dementia and a family history of FTDP-17 in whom we found a novel E12 (Glu342Val) tau gene mutation, prominent frontotemporal neuron loss, intracytoplasmic tau aggregates, paired helical tau filaments, increased 4R tau messenger RNA, increased 4R tau without E2 or E3 inserts, decreased 4R tau with these inserts, and a 4R:3R tau ratio greater than 1 in gray and white matter. 11117541

2000
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia. 11094121

2000
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT For these reasons, we investigated the possibility that PPND and other FTDP-17 syndromes might be caused by mutations in the tau gene. 9789048

1998
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding the microtubule-associated protein tau (MAPT) cause frontotemporal dementia and parkinsonism linked to chromosome 17. 16240366

2005