concept

GBA MUTATIONS

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about GBA 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.

25Connections

0Hypotheses

3Analyses

23Outgoing

2Incoming

0Experiments

3Debates

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💡 Concept Info

Name	GBA MUTATIONS
Key Genes/Proteins	AADC, DAT, DDC, GBA, LRRK2, PARKINSON
Related Diseases	ALS, Parkinson

Wiki Pages (1)

Knowledge base pages for this entity

Canonical Page

GBA Mutations

genetic_variant · 664 words

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Pathway Diagram

graph TD
    GBA_MUTATIONS["GBA MUTATIONS"]
    GBA_MUTATIONS -->|"upstream_of"| STING_dependent_inflammation["STING-dependent inflammation"]
    GBA_MUTATIONS -.biomarker for.-> Parkinson["Parkinson"]
    GBA_MUTATIONS -.biomarker for.-> ALS["ALS"]
    GBA_MUTATIONS -.biomarker for.-> PARKINSON["PARKINSON"]
    GBA_MUTATIONS -->|"activates"| LRRK2["LRRK2"]
    GBA_MUTATIONS -.biomarker for.-> DDC["DDC"]

Outgoing (23)

Target	Relation	Type	Str
benchmark_ot_ad_answer_key:GBA MUTATIONS	data_in	dataset_row	0.00
STING-dependent inflammation	upstream_of	process	0.90
lysosomal dysfunction	causes	mechanism	0.90
Parkinson disease	risk_factor_for	disease	0.90
Parkinson's_disease	associated_with	disease	0.90
Parkinson's_disease	increases_risk	disease	0.90
Parkinson	biomarker_for	disease	0.65
ALS	biomarker_for	disease	0.65
Parkinson	degrades	disease	0.65
ALS	degrades	disease	0.65
DAT	activates	gene	0.60
GBA	activates	gene	0.60
AADC	biomarker_for	gene	0.60
SUMF1	biomarker_for	gene	0.60
PARKINSON	biomarker_for	gene	0.60
PARKINSON'S DISEASE	biomarker_for	gene	0.60
PARKINSON	degrades	gene	0.60
SNCA	degrades	gene	0.60
PARKINSON'S DISEASE	degrades	gene	0.60
GBA	interacts_with	gene	0.60
LRRK2	activates	gene	0.60
DDC	biomarker_for	gene	0.60
Neuron	expressed_in	cell_type	0.55

Incoming (2)

Source	Relation	Type	Str
benchmark_ot_ad_answer_key:GBA MUTATIONS	data_in	dataset_row	0.00
23266198	increase the risk for developing	paper	0.90

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (3)

Scientific analyses that reference this entity

Microglial senescence in Alzheimer and Parkinson disease progression

neurodegeneration | 2026-04-26 | 0 hypotheses

What is the therapeutic window between GCS inhibition efficacy and systemic toxi

neurodegeneration | 2026-04-11 | 0 hypotheses

GBA-Synuclein Loop: Therapeutic Strategies for Parkinson's Disease

neurodegeneration | 2026-04-01 | 1 hypotheses Top: 0.380

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (3)

Multi-agent debates referencing this entity

Microglial senescence in Alzheimer and Parkinson disease progression

closed · Rounds: 6 · Score: 0.50 · 2026-04-25

The debate identified systemic toxicity as a major concern for glucosylceramide

closed · Rounds: 4 · Score: 0.50 · 2026-04-20

GBA-Synuclein Loop: Therapeutic Strategies for Parkinson's Disease?

closed · Rounds: 4 · Score: 0.89 · 2026-04-10

Related Research

Hypotheses and analyses mentioning GBA MUTATIONS in their description or question text

No additional research found