concept

GENE MUTATIONS

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

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.

457Connections

0Hypotheses

0Analyses

50Outgoing

50Incoming

0Experiments

0Debates

Summary

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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💡 Concept Info

Name	GENE MUTATIONS
Key Genes/Proteins	AGING, AKT, ALPHA-SYNUCLEIN, ALS, ALS10, ALS2
Related Diseases	Aging, Als
Related Pathways	Akt, Alpha-Synuclein

Pathway Diagram

graph TD
    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

Outgoing (271)

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
Amyotrophic Lateral Sclerosis	therapeutic_target	disease	0.85
Alzheimer's Disease	risk_factor_for	disease	0.85
Parkinson's Disease	risk_factor_for	disease	0.85
Als	treats	disease	0.85
Parkinson	therapeutic_target	disease	0.85
Angiogenesis	therapeutic_target	pathway	0.80
Alzheimer	therapeutic_target	disease	0.75
Als	activates	disease	0.75
Als	associated_with	disease	0.75
Parkinson	activates	disease	0.75
Tumor	therapeutic_target	disease	0.75
Colorectal Cancer	therapeutic_target	disease	0.75
Cancer	associated_with	disease	0.75
dysregulated pathways	causes	pathway	0.70
Immunotherapy	therapeutic_target	pathway	0.70
Mitochondrial Function	activates	pathway	0.70
Mitophagy	activates	pathway	0.70
Histone Modification	therapeutic_target	pathway	0.70
Epigenetic	therapeutic_target	pathway	0.70
Autophagy	activates	pathway	0.70
ALS	causes	disease	0.70
MITOPHAGY	activates	gene	0.70
CANCER	activates	gene	0.70
Parkinson	associated_with	disease	0.65
Amyotrophic Lateral Sclerosis	activates	disease	0.65
Carcinoma	associated_with	disease	0.65
Aging	degrades	disease	0.65
Parkinson	degrades	disease	0.65
Amyotrophic Lateral Sclerosis	degrades	disease	0.65
Neurodegeneration	degrades	disease	0.65
Aging	causes	disease	0.65
Alzheimer	causes	disease	0.65
Aging	therapeutic_target	disease	0.65
Neurodegeneration	therapeutic_target	disease	0.65
Autoimmune	activates	disease	0.65
Ms	associated_with	disease	0.65
Aging	biomarker_for	disease	0.65
Amyotrophic Lateral Sclerosis	biomarker_for	disease	0.65
Tumor	treats	disease	0.65
Alzheimer	degrades	disease	0.65
Medulloblastoma	associated_with	disease	0.65
Ms	expressed_in	disease	0.65
Tumor	expressed_in	disease	0.65
Amyotrophic Lateral Sclerosis	expressed_in	disease	0.65
Amyotrophic Lateral Sclerosis	associated_with	disease	0.65
Pain	activates	disease	0.65
Retinitis Pigmentosa	activates	disease	0.65

Incoming (186)

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	treats	gene	0.70
GENES	associated_with	gene	0.70
EGFR	activates	gene	0.70
ALS	associated_with	gene	0.70
TP53	associated_with	gene	0.70
P53	associated_with	gene	0.70
CANCER	associated_with	gene	0.70
AMYOTROPHIC LATERAL SCLEROSIS	therapeutic_target	gene	0.70
AUTOPHAGY	activates	gene	0.70
GENES	therapeutic_target	gene	0.70
ALZHEIMER	therapeutic_target	gene	0.70
SOD1	therapeutic_target	gene	0.70
ALZHEIMER'S DISEASE	therapeutic_target	gene	0.70
TPM1	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
NEURON	contributes_to	gene	0.60
PSEN2	contributes_to	gene	0.60
ALZHEIMER	causes	gene	0.60
PRESENILIN	contributes_to	gene	0.60
PSEN1	contributes_to	gene	0.60
AMYLOID	contributes_to	gene	0.60
ALZHEIMER'S DISEASE	causes	gene	0.60
APOE4	causes	gene	0.60
APP	contributes_to	gene	0.60
AGING	causes	gene	0.60
APOE	causes	gene	0.60
AUTOPHAGY	therapeutic_target	gene	0.60
NEURODEGENERATION	therapeutic_target	gene	0.60
TAU	therapeutic_target	gene	0.60
NEURODEGENERATIVE DISEASES	therapeutic_target	gene	0.60
AMYLOID	therapeutic_target	gene	0.60
UBIQUITIN	therapeutic_target	gene	0.60
AGING	therapeutic_target	gene	0.60
APOPTOSIS	inhibits	gene	0.60
TLR4	inhibits	gene	0.60
NF-ΚB	inhibits	gene	0.60
INFLAMMATION	inhibits	gene	0.60
APOPTOSIS	therapeutic_target	gene	0.60
JNK	therapeutic_target	gene	0.60
AKT	therapeutic_target	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

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 (0)

Multi-agent debates referencing this entity

No debates reference this entity

Related Research

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

No additional research found