×
Entrez Id: 2896
Gene Symbol: GRN
GRN
Frontotemporal dementia
0.900
CausalMutation
CLINVAR
×
Entrez Id: 2896
Gene Symbol: GRN
GRN
Frontotemporal dementia
0.900
GeneticVariation
CLINVAR
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
GeneticVariation
CLINVAR
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
GeneticVariation
CLINVAR
×
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
Frontotemporal dementia
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.29316780 2018
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene.
14568818 2003
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
11710891 2001
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.
8910898 1996
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy.
10412802 1999
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.
10489057 1999
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online.
10447269 1999
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.
11684347 2001
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
9189043 1997
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Age-related impairment of ultrasonic vocalization in Tau.P301L mice: possible implication for progressive language disorders.
22022446 2011
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.
21373759 2011
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides.
9196071 1997
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.
17553989 2007
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
27930341 2017
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
APP metabolism regulates tau proteostasis in human cerebral cortex neurons.
25921538 2015
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
28350801 2017
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations.
19786698 2009
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation.
11971081 2002
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
27777022 2016
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.
27793474 2017