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disease 1,334 words KG: ent-dise-c92709d0
Contents

Amyotrophic Lateral Sclerosis (ALS) Genetic Variants

Disease Info
Major causal genesC9orf72, SOD1, FUS, TARDBP (accounting for ~70% of familial ALS)
Moderate risk genesUBQLN2, OPTN, TBK1, VCP, ANG
GWAS-identified lociOver 15 risk loci identified through genome-wide studies
DatabasesOMIMOrphanetClinicalTrialsPubMed

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Knowledge Graph

Related Hypotheses (12)

Cross-Seeding Prevention Strategy
Score: 0.69Glycine-Rich Domain Competitive Inhibition
Score: 0.64Cryptic Exon Silencing Restoration
Score: 0.53Multi-Modal Stress Response Harmonization
Score: 0.76Phase-Separated Organelle Targeting
Score: 0.73Stress Granule Phase Separation Modulators
Score: 0.72Axonal RNA Transport Reconstitution
Score: 0.70Chaperone-Mediated APOE4 Refolding Enhancement
Score: 0.68RNA Granule Nucleation Site Modulation
Score: 0.66Heat Shock Protein 70 Disaggregase Amplification
Score: 0.62Microbial Metabolite-Mediated α-Synuclein Disaggregation
Score: 0.51RNA-Binding Competition Therapy for TDP-43 Cross-Seeding
Score: 0.47

Related Analyses (12)

RNA binding protein dysregulation across ALS FTD AD
neurodegeneration · archivedTDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archivedCRISPR-based therapeutic approaches for neurodegenerative di
neurodegeneration · completedHow do non-cell autonomous effects of autophagy dysfunction
neurodegeneration · completedTDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · completed

Related Experiments (30)

ER-Golgi Secretory Pathway Dysfunction in PD - Experiment De
clinical · proposed · Score: 0.40cGAS/STING pathway activation by TDP-43-released mtDNA
exploratory · proposed · Score: 0.95TDP-43 mutant mouse model cGAS/STING pathway analysis
validation · proposed · Score: 0.90TDP-43 mitochondrial invasion and DNA release via mPTP
exploratory · proposed · Score: 0.90TDP-43 mitochondrial invasion and mtDNA release in iPSC moto
exploratory · proposed · Score: 0.90

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