Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about GAUCHER DISEASE: 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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| Name | GAUCHER DISEASE |
| Key Genes/Proteins | GBA, TFEB, TMEM106B |
| Related Diseases | ASTROGLIOSIS, DEMENTIA, PARKINSON'S DISEASE |
graph TD
GAUCHER_DISEASE[GAUCHER DISEASE]
GAUCHER_DISEASE -->|causes| ER_stress[ER stress]
GAUCHER_DISEASE -->|activates| TMEM106B[TMEM106B]
GAUCHER_DISEASE -->|interacts| ASTROGLIOSIS[ASTROGLIOSIS]
GAUCHER_DISEASE -->|interacts| DEMENTIA[DEMENTIA]
GAUCHER_DISEASE -->|increases_risk| PARKINSON_S_DISEASE[PARKINSON'S DISEASE]
GBA1[GBA1] -->|causes| GAUCHER_DISEASE
GBA[GBA] -->|causes| GAUCHER_DISEASE
Glucosylceramide[Glucosylceramide] -->|contributes to| GAUCHER_DISEASE
Glucosylsphingosine[Glucosylsphingosine] -->|contributes to| GAUCHER_DISEASE
Glucocerebrosidase_deficiency[Glucocerebrosidase deficiency] -->|causes| GAUCHER_DISEASE
GPNMB[GPNMB] -.biomarker for.-> GAUCHER_DISEASE
Glucocerebrosidase[Glucocerebrosidase] -->|treats| GAUCHER_DISEASE
BI_hTFR1[BI-hTFR1] -->|treats| GAUCHER_DISEASE| Target | Relation | Type | Str |
|---|---|---|---|
| ER stress | causes | process | 0.93 |
| Parkinson disease | associated_with | disease | 0.70 |
| DEMENTIA | increases_risk | disease | 0.65 |
| ASTROGLIOSIS | interacts_with | phenotype | 0.65 |
| TMEM106B | activates | gene | 0.65 |
| PARKINSON'S DISEASE | increases_risk | disease | 0.65 |
| DEMENTIA | interacts_with | disease | 0.65 |
| Source | Relation | Type | Str |
|---|---|---|---|
| GBA1 | associated_with | gene | 0.95 |
| GLUCOCEREBROSIDASE | associated_with | protein | 0.95 |
| GBA1 | causes | gene | 0.95 |
| Glucosylceramide | contributes_to | compound | 0.95 |
| Glucosylsphingosine | contributes_to | compound | 0.95 |
| Glucocerebrosidase deficiency | causes | mechanism | 0.95 |
| GBA | causes | gene | 0.95 |
| GBA1 | associated_with | gene | 0.90 |
| GBA1 | causes | gene | 0.90 |
| GBA | causes | gene | 0.90 |
| GPNMB | biomarker_for | protein | 0.90 |
| Bi-Htfr1 | treats | drug | 0.85 |
| BI-hTFR1 | therapeutic_target | protein | 0.85 |
| Glucocerebrosidase | treats | enzyme | 0.85 |
| BI-hTFR1 | treats | drug | 0.85 |
| NEURONS | exacerbates | cell_type | 0.65 |
| TFEB | regulates | gene | 0.65 |
| GBA | interacts_with | gene | 0.65 |
| TMEM106B | treats | gene | 0.65 |
| TMEM106B | regulates | gene | 0.65 |
| GBA | implicated_in | gene | 0.55 |
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
Hypotheses and analyses mentioning GAUCHER DISEASE in their description or question text
No additional research found