disease 1,462 words KG: ent-dise-e3888438 2026-03-22
kind:diseasesection:diseasesstate:published
Contents

Parkinson's Disease Genetic Variants

Disease Info
[LRRK2 G2019S](/diseases/lrrk2-g2019s)The most common pathogenic LRRK2 mutation, found in ~5% of familial PD
[GBA N370S](/diseases/gba-n370s)Major risk factor, especially in Ashkenazi Jews (10x increased risk)
[SNCA A53T](/diseases/snca-a53t)Highly penetrant alpha-synuclein mutation causing aggressive PD
[ATP13A9](/diseases/atp13a9-pd)Recessive gene associated with early-onset PD
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (11)

Smartphone-Detected Motor Variability Correction
Score: 0.56
Conditional CRISPR Kill Switches for Aberrant Protein Cleara
Score: 0.45
Microbial Metabolite-Mediated α-Synuclein Disaggregation
Score: 0.45
Enteric Nervous System Prion-Like Propagation Blockade
Score: 0.44
P2RX7-Mediated Exosome Secretion Blockade
Score: 0.51

Related Analyses (17)

Digital biomarkers and AI-driven early detection of neurodeg
neurodegeneration · archived
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · archived
TREM2 agonism vs antagonism in DAM microglia
neurodegeneration · failed
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · completed

Related Experiments (30)

Longitudinal TLR2 reporter gene study in α-synuclein mice
validation · proposed · Score: 0.90
iPSC-derived astrocyte-neuron co-culture mitochondrial trans
exploratory · proposed · Score: 0.90
TLR expression analysis in Parkinson's disease patients
clinical · proposed · Score: 0.85
Dexamethasone treatment study in α-synuclein mice
validation · proposed · Score: 0.85
TLR expression in α-synuclein overexpressing mice
validation · proposed · Score: 0.80