×
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
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
GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil.
27082848 2017
×
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
Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.
27793474 2017
×
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: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.
27206484 2016
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.
27073747 2016
×
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: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
[18 F]AV-1451 PET in behavioral variant frontotemporal dementia due to MAPT mutation.
28097206 2016
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Frontotemporal dementia-related gene mutations in clinical dementia patients from a Chinese population.
27439681 2016
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
27014058 2016
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.
27100200 2016
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.
26923592 2016
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Hyperactivity with Agitative-Like Behavior in a Mouse Tauopathy Model.
26519432 2016
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.
27100199 2016
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Mutation analysis of patients with neurodegenerative disorders using NeuroX array.
25174650 2015
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells.
26373282 2015
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
26194182 2015
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
The Human Tau Interactome: Binding to the Ribonucleoproteome, and Impaired Binding of the Proline-to-Leucine Mutant at Position 301 (P301L) to Chaperones and the Proteasome.
26269332 2015
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.
26220942 2015
×
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Investigating degeneration of the retina in young and aged tau P301L mice.
25592136 2015
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Frontotemporal dementia
0.800
CausalMutation
CLINVAR
Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.
25741723 2015
×
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