×
Entrez Id:
23682
Gene Symbol:
RAB38
RAB38
0.110
GeneticVariation
disease
GWASDB
Frontotemporal dementia and its subtypes: a genome-wide association study.
24943344
2014
×
Entrez Id:
56244
Gene Symbol:
BTNL2
BTNL2
0.110
GeneticVariation
disease
GWASDB
Frontotemporal dementia and its subtypes: a genome-wide association study.
24943344
2014
HLA-DRB9
0.100
GeneticVariation
disease
GWASDB
Frontotemporal dementia and its subtypes: a genome-wide association study.
24943344
2014
TSBP1-AS1
0.100
GeneticVariation
disease
GWASDB
Frontotemporal dementia and its subtypes: a genome-wide association study.
24943344
2014
×
Entrez Id:
2896
Gene Symbol:
GRN
GRN
0.900
Biomarker
disease
GENOMICS_ENGLAND
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.
17923627
2007
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
Biomarker
disease
GENOMICS_ENGLAND
Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.
22503161
2012
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
Biomarker
disease
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
0.800
Biomarker
disease
GENOMICS_ENGLAND
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation.
28664294
2017
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
Biomarker
disease
GENOMICS_ENGLAND
The genetics of Alzheimer disease.
23028126
2012
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
0.800
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
4137
Gene Symbol:
MAPT
MAPT
0.800
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
23435
Gene Symbol:
TARDBP
TARDBP
0.700
Biomarker
disease
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
0.700
Biomarker
disease
GENOMICS_ENGLAND
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
18372902
2008
×
Entrez Id:
25978
Gene Symbol:
CHMP2B
CHMP2B
0.700
Biomarker
disease
GENOMICS_ENGLAND
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro.
17956895
2008
×
Entrez Id:
203228
Gene Symbol:
C9orf72
C9orf72
0.500
Biomarker
disease
GENOMICS_ENGLAND
Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis.
23597494
2013
×
Entrez Id:
203228
Gene Symbol:
C9orf72
C9orf72
0.500
Biomarker
disease
GENOMICS_ENGLAND
Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease.
25326098
2014
×
Entrez Id:
54209
Gene Symbol:
TREM2
TREM2
0.500
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
54209
Gene Symbol:
TREM2
TREM2
0.500
Biomarker
disease
GENOMICS_ENGLAND
Parkinsonism, movement disorders and genetics in frontotemporal dementia.
26891767
2016
×
Entrez Id:
4137
Gene Symbol:
MAPT
MAPT
0.800
GeneticVariation
disease
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
0.800
GeneticVariation
disease
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
0.800
GeneticVariation
disease
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
0.800
GeneticVariation
disease
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
0.800
GeneticVariation
disease
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
0.800
GeneticVariation
disease
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
0.800
GeneticVariation
disease
UNIPROT
An autosomal-dominantly form of frontotemporal dementia and parkinsonism linked to chromosome 17q21.2 (FTDP-17 ) was defined in 1996.
26086902
2015