Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about GENE MUTATIONS: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.
GENE MUTATIONS is a concept in neurodegeneration research. Key relationships include: therapeutic target, activates, associated with. Associated with ALS, Aging, Als. Connected to 339 entities in the SciDEX knowledge graph.
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GENE_MUTATIONS["GENE MUTATIONS"]
GENE_MUTATIONS -->|"causes"| dysregulated_pathways["dysregulated pathways"]
GENE_MUTATIONS -->|"causes"| ALS["ALS"]
GENE_MUTATIONS -->|"target for"| Cancer["Cancer"]
GENE_MUTATIONS -->|"activates"| Parkinson["Parkinson"]
GENE_MUTATIONS -->|"activates"| Ms["Ms"]
GENE_MUTATIONS -->|"activates"| Als["Als"]
GENE_MUTATIONS -->|"activates"| Autoimmune["Autoimmune"]
GENE_MUTATIONS -->|"target for"| Amyotrophic_Lateral_Sclerosis["Amyotrophic Lateral Sclerosis"]
TP53["TP53"] -->|"target for"| GENE_MUTATIONS
CANCER["CANCER"] -->|"target for"| GENE_MUTATIONS
RB1["RB1"] -->|"target for"| GENE_MUTATIONS
PARKINSON_S_DISEASE["PARKINSON'S DISEASE"] -->|"activates"| GENE_MUTATIONS
MITOPHAGY["MITOPHAGY"] -->|"activates"| GENE_MUTATIONS
PARKIN["PARKIN"] -->|"activates"| GENE_MUTATIONS
PTEN["PTEN"] -->|"activates"| GENE_MUTATIONS
AUTOPHAGY["AUTOPHAGY"] -->|"activates"| GENE_MUTATIONS
CGAS["CGAS"] -->|"activates"| GENE_MUTATIONS
PI3K["PI3K"] -->|"activates"| GENE_MUTATIONS| Target | Relation | Type | Str |
|---|---|---|---|
| benchmark_ot_ad_answer_key:GENE MUTATIONS | data_in | dataset_row | 0.00 |
| Cancer | therapeutic_target | disease | 1.00 |
| Als | therapeutic_target | disease | 1.00 |
| Als | treats | disease | 0.85 |
| Parkinson's Disease | risk_factor_for | disease | 0.85 |
| Amyotrophic Lateral Sclerosis | therapeutic_target | disease | 0.85 |
| Parkinson | therapeutic_target | disease | 0.85 |
| Alzheimer's Disease | risk_factor_for | disease | 0.85 |
| Angiogenesis | therapeutic_target | pathway | 0.80 |
| Als | activates | disease | 0.75 |
| Cancer | associated_with | disease | 0.75 |
| Parkinson | activates | disease | 0.75 |
| Als | associated_with | disease | 0.75 |
| Colorectal Cancer | therapeutic_target | disease | 0.75 |
| Alzheimer | therapeutic_target | disease | 0.75 |
| Tumor | therapeutic_target | disease | 0.75 |
| Epigenetic | therapeutic_target | pathway | 0.70 |
| Histone Modification | therapeutic_target | pathway | 0.70 |
| Mitochondrial Function | activates | pathway | 0.70 |
| Mitophagy | activates | pathway | 0.70 |
| Autophagy | activates | pathway | 0.70 |
| CANCER | activates | gene | 0.70 |
| ALS | causes | disease | 0.70 |
| dysregulated pathways | causes | pathway | 0.70 |
| MITOPHAGY | activates | gene | 0.70 |
| Immunotherapy | therapeutic_target | pathway | 0.70 |
| Gastric Cancer | therapeutic_target | disease | 0.65 |
| Cancer | causes | disease | 0.65 |
| Parkinson | associated_with | disease | 0.65 |
| Parkinson | interacts_with | disease | 0.65 |
| Glaucoma | associated_with | disease | 0.65 |
| ALS | interacts_with | disease | 0.65 |
| Inflammation | interacts_with | disease | 0.65 |
| Ms | associated_with | disease | 0.65 |
| ALS | causes | disease | 0.65 |
| Tumor | causes | disease | 0.65 |
| Amyotrophic Lateral Sclerosis | activates | disease | 0.65 |
| Neuroinflammation | interacts_with | disease | 0.65 |
| Amyotrophic Lateral Sclerosis | associated_with | disease | 0.65 |
| Als | causes | disease | 0.65 |
| Amyotrophic Lateral Sclerosis | causes | disease | 0.65 |
| Cancer | activates | disease | 0.65 |
| Ataxia | activates | disease | 0.65 |
| Alzheimer | activates | disease | 0.65 |
| Neuropathy | activates | disease | 0.65 |
| Atherosclerosis | expressed_in | disease | 0.65 |
| Pain | activates | disease | 0.65 |
| Retinitis Pigmentosa | activates | disease | 0.65 |
| Obesity | activates | disease | 0.65 |
| Diabetes | activates | disease | 0.65 |
| Source | Relation | Type | Str |
|---|---|---|---|
| benchmark_ot_ad_answer_key:GENE MUTATIONS | data_in | dataset_row | 0.00 |
| CANCER | therapeutic_target | gene | 1.00 |
| Alzheimer'S Disease | associated_with | disease | 0.95 |
| DNA | associated_with | gene | 0.80 |
| DNA | therapeutic_target | gene | 0.80 |
| PARKINSON'S DISEASE | therapeutic_target | gene | 0.80 |
| PARKINSON | therapeutic_target | gene | 0.80 |
| ALS | associated_with | gene | 0.70 |
| ALZHEIMER'S DISEASE | therapeutic_target | gene | 0.70 |
| GENES | therapeutic_target | gene | 0.70 |
| AMYOTROPHIC LATERAL SCLEROSIS | therapeutic_target | gene | 0.70 |
| SOD1 | therapeutic_target | gene | 0.70 |
| ALZHEIMER | therapeutic_target | gene | 0.70 |
| GENES | associated_with | gene | 0.70 |
| AUTOPHAGY | activates | gene | 0.70 |
| ALS | treats | gene | 0.70 |
| TP53 | associated_with | gene | 0.70 |
| P53 | associated_with | gene | 0.70 |
| CANCER | associated_with | gene | 0.70 |
| EGFR | activates | gene | 0.70 |
| MLH1 | therapeutic_target | gene | 0.60 |
| BRCA1 | therapeutic_target | gene | 0.60 |
| PALB2 | therapeutic_target | gene | 0.60 |
| TCF3 | activates | gene | 0.60 |
| LRP1 | activates | gene | 0.60 |
| RRM1 | activates | gene | 0.60 |
| YBX1 | activates | gene | 0.60 |
| HUNTINGTON | therapeutic_target | gene | 0.60 |
| NEURODEGENERATIVE DISORDERS | therapeutic_target | gene | 0.60 |
| MITOCHONDRIAL DNA | associated_with | gene | 0.60 |
| MITOCHONDRIA | associated_with | gene | 0.60 |
| HUNTINGTON'S DISEASE | therapeutic_target | gene | 0.60 |
| NRF2 | therapeutic_target | gene | 0.60 |
| MITOCHONDRIAL DYSFUNCTION | associated_with | gene | 0.60 |
| DNA | implicated_in | gene | 0.60 |
| MDM2 | implicated_in | gene | 0.60 |
| GENES | implicated_in | gene | 0.60 |
| RAS | activates | gene | 0.60 |
| ALS | causes | gene | 0.60 |
| MOTOR NEURONS | causes | gene | 0.60 |
| AMYOTROPHIC LATERAL SCLEROSIS | causes | gene | 0.60 |
| NEURON | causes | gene | 0.60 |
| AND | therapeutic_target | gene | 0.60 |
| MAPK | therapeutic_target | gene | 0.60 |
| BRAF | activates | gene | 0.60 |
| KRAS | activates | gene | 0.60 |
| OXIDATIVE STRESS | interacts_with | gene | 0.60 |
| FERROPTOSIS | interacts_with | gene | 0.60 |
| TP53 | therapeutic_target | gene | 0.60 |
| MITOCHONDRIAL DYSFUNCTION | interacts_with | gene | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
No analyses mention this entity
Experimental studies targeting or related to this entity
| Experiment | Type | Disease | Score | Feasibility | Model | Status | Est. Cost |
|---|---|---|---|---|---|---|---|
| No experiments found | |||||||
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||
Multi-agent debates referencing this entity
No debates reference this entity