disease 2,234 words KG: ent-dise-e0020cdd
Contents

Alzheimer's Disease Genetic Variants

Disease Info
Causal/MendelianRare mutations that cause autosomal dominant familial AD (APP, PSEN1, PSEN2)
Risk-ModifyingCommon variants that increase or decrease AD risk (APOE, TREM2, BIN1, CLU, PICALM, CR1, CD33, ABCA7)
ProtectiveRare variants that may reduce AD risk
Strong family historyAPOE genotyping may inform risk counseling
Research settingsGWAS loci (BIN1, CLU, PICALM, etc.)
DatabasesOMIMOrphanetClinicalTrialsPubMed

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Related Hypotheses (31)

Gamma entrainment therapy to restore hippocampal-cortical sy
Score: 0.95
ACSL4-Driven Ferroptotic Priming in Disease-Associated Micro
Score: 0.89
Hippocampal CA3-CA1 circuit rescue via neurogenesis and syna
Score: 0.82
Prefrontal sensory gating circuit restoration via PV interne
Score: 0.78
Cell-Type Specific TREM2 Upregulation in DAM Microglia
Score: 0.76
GFAP-Positive Reactive Astrocyte Subtype Delineation
Score: 0.75
APOE Isoform Expression Across Glial Subtypes
Score: 0.74
SIRT3-Mediated Mitochondrial Deacetylation Failure with PINK
Score: 0.74
Complement C1QA Spatial Gradient in Cortical Layers
Score: 0.68
Excitatory Neuron Vulnerability via SLC17A7 Downregulation
Score: 0.67
Astrocyte MCT1/MCT4 Ratio Disruption with Metabolic Uncoupli
Score: 0.67
TREM2-mediated microglial tau clearance enhancement
Score: 0.62
LRP1-Dependent Tau Uptake Disruption
Score: 0.60
VCP-Mediated Autophagy Enhancement
Score: 0.59
Extracellular Vesicle Biogenesis Modulation
Score: 0.58
Synaptic Vesicle Tau Capture Inhibition
Score: 0.58
HSP90-Tau Disaggregation Complex Enhancement
Score: 0.57
Trans-Synaptic Adhesion Molecule Modulation
Score: 0.54
Selective APOE4 Degradation via Proteolysis Targeting Chimer
Score: 0.79
Competitive APOE4 Domain Stabilization Peptides
Score: 0.78
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Related Analyses (22)

SEA-AD Gene Expression Profiling — Allen Brain Cell Atlas
neurodegeneration · completed
Blood-brain barrier transport mechanisms for antibody therap
neurodegeneration · archived
APOE4 structural biology and therapeutic targeting strategie
neurodegeneration · archived
Mechanistic role of APOE in neurodegeneration
neurodegeneration · archived
Synaptic pruning by microglia in early AD
neurodegeneration · archived

Related Experiments (30)

ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
clinical · proposed · Score: 0.40
Meta-analysis of physical activity interventions on cognitiv
clinical · proposed · Score: 0.95
SPP1-mediated microglial synaptic engulfment assay
exploratory · proposed · Score: 0.95
GWAS of plasma NfL in East Asian cohort
exploratory · proposed · Score: 0.95
Meta-analysis of LRP1 C766T polymorphism and Alzheimer's dis
exploratory · proposed · Score: 0.95

See Also (15)

ASL Perfusion Biomarkers for Alzheimer's Disease
biomarker · Pages share 18 hypotheses
Digital Biomarkers for Alzheimer's Disease
biomarker · Pages share 18 hypotheses
Dried Blood Spot Biomarker Test for Alzheimer's Disease
biomarker · Pages share 18 hypotheses
DTI Biomarkers for Alzheimer's Disease
biomarker · Pages share 18 hypotheses
EEG Biomarkers for Alzheimer's Disease
biomarker · Pages share 18 hypotheses

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