×
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
Frontotemporal dementia
0.500
Biomarker
GENOMICS_ENGLAND
Parkinsonism, movement disorders and genetics in frontotemporal dementia.
26891767 2016
×
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: 203228
Gene Symbol: C9orf72
C9orf72
Frontotemporal dementia
0.500
Biomarker
GENOMICS_ENGLAND
Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.
23597494 2013
×
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
Frontotemporal dementia
0.500
Biomarker
GENOMICS_ENGLAND
×
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: 23435
Gene Symbol: TARDBP
TARDBP
Frontotemporal dementia
0.700
Biomarker
GENOMICS_ENGLAND
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
18372902 2008
×
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: 25978
Gene Symbol: CHMP2B
CHMP2B
Frontotemporal dementia
0.700
Biomarker
CTD_human
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia .
16041373 2005
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
Biomarker
GENOMICS_ENGLAND
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
28664294 2017
×
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: 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: 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: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
Biomarker
GENOMICS_ENGLAND
The genetics of Alzheimer disease.
23028126 2012
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
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
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
Mutations in the gene encoding the microtubule-associated protein tau (MAPT ) cause frontotemporal dementia and parkinsonism linked to chromosome 17.
16240366 2005
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
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
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
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
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
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
Mutations in the tau gene cause frontotemporal dementia and parkinsonism linked to chromosome-17 (FTDP-17 ).
11906000 2002
×
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
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
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