Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about spinal muscular atrophy: 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.
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| Associated Genes | TNF, CRH, LDL, LDLR, DNA, RNA, CLU, GFAP |
| Therapeutic Agents | dexamethasone, quercetin, statins |
| KG Connections | 210 knowledge graph edges |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
Knowledge base pages for this entity
graph TD
spinal_muscular_atrophy["spinal muscular atrophy"] -->|"disrupts"| endoplasmic_reticulum["endoplasmic reticulum"]
style endoplasmic_reticulum fill:#1a2a3a,stroke:#4fc3f7,stroke-width:1px,color:#fff
spinal_muscular_atrophy["spinal muscular atrophy"] -->|"disrupts"| mitochondria["mitochondria"]
style mitochondria fill:#1a2a3a,stroke:#4fc3f7,stroke-width:1px,color:#fff
spinal_muscular_atrophy["spinal muscular atrophy"] -->|"disrupts"| lysosome["lysosome"]
style lysosome fill:#1a2a3a,stroke:#4fc3f7,stroke-width:1px,color:#fff
spinal_muscular_atrophy["spinal muscular atrophy"] -->|"affects"| neural_stem_cells["neural stem cells"]
style neural_stem_cells fill:#1a2a3a,stroke:#4fc3f7,stroke-width:1px,color:#fff
spinal_muscular_atrophy["spinal muscular atrophy"] -->|"affects"| neurons["neurons"]
style neurons fill:#1a2a3a,stroke:#4fc3f7,stroke-width:1px,color:#fff
spinal_muscular_atrophy["spinal muscular atrophy"] -->|"disrupts"| glutamate["glutamate"]
style glutamate fill:#1a2a3a,stroke:#4fc3f7,stroke-width:1px,color:#fff
spinal_muscular_atrophy["spinal muscular atrophy"] -->|"involves"| unfolded_protein_response["unfolded protein response"]
style unfolded_protein_response fill:#1a2a3a,stroke:#81c784,stroke-width:1px,color:#fff
MAPT["MAPT"] -->|"biomarker for"| spinal_muscular_atrophy["spinal muscular atrophy"]
style MAPT fill:#1a2a3a,stroke:#ce93d8,stroke-width:1px,color:#fff
LDL["LDL"] -->|"associated"| spinal_muscular_atrophy["spinal muscular atrophy"]
style LDL fill:#1a2a3a,stroke:#ce93d8,stroke-width:1px,color:#fff
DNA["DNA"] -->|"associated"| spinal_muscular_atrophy["spinal muscular atrophy"]
style DNA fill:#1a2a3a,stroke:#ce93d8,stroke-width:1px,color:#fff
GFAP["GFAP"] -->|"biomarker for"| spinal_muscular_atrophy["spinal muscular atrophy"]
style GFAP fill:#1a2a3a,stroke:#ce93d8,stroke-width:1px,color:#fff
RNA["RNA"] -->|"activates"| spinal_muscular_atrophy["spinal muscular atrophy"]
style RNA fill:#1a2a3a,stroke:#ce93d8,stroke-width:1px,color:#fff
style spinal_muscular_atrophy fill:#ef5350,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0,font-weight:bold| Target | Relation | Type | Str |
|---|---|---|---|
| neural stem cells | affects | cell_type | 0.90 |
| neurons | affects | cell_type | 0.90 |
| unfolded protein response | involves | pathway | 0.90 |
| macrophages | affects | cell_type | 0.90 |
| lipid metabolism | involves | pathway | 0.90 |
| ferroptosis | involves | pathway | 0.90 |
| endosome | disrupts | organelle | 0.90 |
| B cells | affects | cell_type | 0.80 |
| T cells | affects | cell_type | 0.80 |
| cerebellum | affects | brain_region | 0.80 |
| astrocytes | affects | cell_type | 0.80 |
| TGF-beta signaling | involves | pathway | 0.80 |
| microglia | affects | cell_type | 0.80 |
| necroptosis | involves | pathway | 0.80 |
| pyroptosis | involves | pathway | 0.80 |
| hippocampus | affects | brain_region | 0.80 |
| Golgi apparatus | disrupts | organelle | 0.80 |
| glutamate signaling | involves | pathway | 0.70 |
| oligodendrocytes | affects | cell_type | 0.70 |
| cortex | affects | brain_region | 0.70 |
| spinal cord | affects | brain_region | 0.70 |
| axon | disrupts | organelle | 0.70 |
| blood-brain barrier | affects | brain_region | 0.70 |
| autophagy pathway | involves | pathway | 0.60 |
| substantia nigra | affects | brain_region | 0.60 |
| monocytes | affects | cell_type | 0.60 |
| dendritic cells | affects | cell_type | 0.60 |
| PI3K-AKT-mTOR signaling | involves | pathway | 0.60 |
| Wnt signaling | involves | pathway | 0.60 |
| adenosine | disrupts | neurotransmitter | 0.60 |
| thalamus | affects | brain_region | 0.60 |
| hypothalamus | affects | brain_region | 0.60 |
| nitric oxide | disrupts | neurotransmitter | 0.60 |
| oxidative stress response | involves | pathway | 0.60 |
| epigenetic regulation | involves | pathway | 0.60 |
| temporal lobe | affects | brain_region | 0.60 |
| insulin signaling | involves | pathway | 0.60 |
| insulin receptor | involves | receptor | 0.60 |
| endothelial cells | affects | cell_type | 0.60 |
| mast cells | affects | cell_type | 0.60 |
| synaptic vesicle | disrupts | organelle | 0.60 |
| Purkinje cells | affects | cell_type | 0.60 |
| choroid plexus | affects | brain_region | 0.60 |
| white matter | affects | brain_region | 0.60 |
| synaptic plasticity | involves | pathway | 0.60 |
| Source | Relation | Type | Str |
|---|---|---|---|
| MAPT | biomarker_for | gene | 0.80 |
| LDL | associated_with | gene | 0.80 |
| DNA | associated_with | gene | 0.80 |
| GFAP | biomarker_for | gene | 0.80 |
| RNA | activates | gene | 0.70 |
| TNF | associated_with | gene | 0.70 |
| LDLR | associated_with | gene | 0.70 |
| RNA | associated_with | gene | 0.70 |
| ALS | associated_with | gene | 0.70 |
| RNA | interacts_with | gene | 0.70 |
| DDC | biomarker_for | gene | 0.70 |
| IL6 | regulates | gene | 0.70 |
| TNF | activates | gene | 0.70 |
| SLC16A1 | transported_by | gene | 0.60 |
| FCGRT | activates | gene | 0.60 |
| FCGRT | protects_against | gene | 0.60 |
| TNF | inhibits | gene | 0.60 |
| dexamethasone | treats | compound | 0.60 |
| TNF | suppresses | gene | 0.60 |
| MMP2 | inhibits | gene | 0.60 |
| MMP9 | inhibits | gene | 0.60 |
| ULK1 | activates | gene | 0.60 |
| DNMT1 | activates | gene | 0.60 |
| MAP1LC3 | activates | gene | 0.60 |
| ACTB | activates | gene | 0.60 |
| ATG7 | activates | gene | 0.60 |
| BECN1 | activates | gene | 0.60 |
| HTT | activates | gene | 0.60 |
| LC3 | activates | gene | 0.60 |
| GABA | activates | gene | 0.60 |
| GABARAP | activates | gene | 0.60 |
| SQSTM1 | activates | gene | 0.60 |
| MTORC1 | activates | gene | 0.60 |
| DNA | activates | gene | 0.60 |
| SETX | activates | gene | 0.60 |
| TFEB | activates | gene | 0.60 |
| ULK1 | regulates | gene | 0.60 |
| DNMT1 | regulates | gene | 0.60 |
| MAP1LC3 | regulates | gene | 0.60 |
| ACTB | regulates | gene | 0.60 |
| ATG7 | regulates | gene | 0.60 |
| BECN1 | regulates | gene | 0.60 |
| HTT | regulates | gene | 0.60 |
| LC3 | regulates | gene | 0.60 |
| GABA | regulates | gene | 0.60 |
| GABARAP | regulates | gene | 0.60 |
| SQSTM1 | regulates | gene | 0.60 |
| MTORC1 | regulates | gene | 0.60 |
| RNA | regulates | gene | 0.60 |
| DNA | regulates | 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
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||