×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
Frontotemporal dementia
0.500
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
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
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Frontotemporal dementia with parkinsonism , chromosome 17 type (FTDP-17 ), a recently defined disease entity, is clinically characterized by personality changes sometimes associated with psychosis, hyperorality, and diminished speech output, disturbed executive function and nonfluent aphasia, bradykinesia, and rigidity.9629852 1998
×
Entrez Id: 2896
Gene Symbol: GRN
GRN
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
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
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
A mutation in the tau gene was found in 17.8% of the group of patients with FTD and in 43% of patients with FTD who also had a positive family history of FTD .
9973279 1999
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
10489057 1999
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
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
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Accelerated filament formation from tau protein with specific FTDP-17 missense mutations.
10214944 1999
×
Entrez Id: 2896
Gene Symbol: GRN
GRN
Frontotemporal dementia
0.900
Biomarker
GENOMICS_ENGLAND
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.
17923627 2007
×
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
Frontotemporal dementia
0.700
Biomarker
GENOMICS_ENGLAND
Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.
20697052 2010
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
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: 25978
Gene Symbol: CHMP2B
CHMP2B
Frontotemporal dementia
0.700
Biomarker
GENOMICS_ENGLAND
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
17956895 2008
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).
12473774 2002
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Early-onset, rapidly progressive familial tauopathy with R406W mutation.
11889249 2002
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
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
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
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
Frontotemporal dementia
0.800
GeneticVariation
UNIPROT
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.
10374757 1999
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
Biomarker
GENOMICS_ENGLAND
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
26539891 2015
×
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
Frontotemporal dementia
0.500
Biomarker
GENOMICS_ENGLAND
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.
25326098 2014
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
Biomarker
GENOMICS_ENGLAND
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
22503161 2012
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
Biomarker
CTD_human
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.
11912108 2002