Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2896
Gene Symbol: GRN
GRN 		0.900 CausalMutation disease CLINVAR
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease. 20145736 2010
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase. 22461631 2012
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling. 20484632 2010
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins. 17545141 2007
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		0.800 CausalMutation disease CLINVAR GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil. 27082848 2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Mutation analysis of patients with neurodegenerative disorders using NeuroX array. 25174650 2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease 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: 4137
Gene Symbol: MAPT
MAPT 		0.800 CausalMutation disease CLINVAR Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing. 19498037 2009
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR Presenilin/γ-secretase regulates neurexin processing at synapses. 21559374 2011
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Novel mutations and repeated findings of mutations in familial Alzheimer disease. 15776278 2005
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. 8634712 1995
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		0.800 CausalMutation disease CLINVAR Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. 19786698 2009
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Disease-related mutations among Caribbean Hispanics with familial dementia. 25333068 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease 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 		0.800 CausalMutation disease CLINVAR Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's disease. 9641683 1998
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21. 24773620 2014
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production. 23843529 2013
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		0.800 CausalMutation disease CLINVAR The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model. 17715352 2007
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		0.800 CausalMutation disease CLINVAR Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. 19365643 2009
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		0.800 CausalMutation disease CLINVAR Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. 9680315 1997