concept

C9ORF72 REPEAT EXPANSION

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about C9ORF72 REPEAT EXPANSION: 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.

163Connections

0Hypotheses

3Analyses

50Outgoing

49Incoming

0Experiments

3Debates

Summary

C9ORF72 REPEAT EXPANSION is a concept in neurodegeneration research. Key relationships include: expressed in, causes, activates. Associated with Als, Amyotrophic Lateral Sclerosis, Dementia. Connected to 107 entities in the SciDEX knowledge graph.

View on Wiki →

No AI portrait yet

💡 Concept Info

Name	C9ORF72 REPEAT EXPANSION
Key Genes/Proteins	ALS, ALS2, AMYOTROPHIC LATERAL SCLEROSIS, AND, C9ORF72, CHMP2B
Related Diseases	Als, Amyotrophic Lateral Sclerosis, Dementia
Related Pathways	Complement

Pathway Diagram

graph TD
    C9ORF72_REPEAT_EXPANSION["C9ORF72 REPEAT EXPANSION"]
    C9ORF72_REPEAT_EXPANSION -->|"inhibits"| C9ORF72["C9ORF72"]
    C9ORF72_REPEAT_EXPANSION -->|"causes"| NEURODEGENERATION["NEURODEGENERATION"]
    C9ORF72_REPEAT_EXPANSION -->|"regulates"| Neurodegeneration["Neurodegeneration"]
    C9ORF72_REPEAT_EXPANSION -->|"expressed in"| Amyotrophic_Lateral_Sclerosis["Amyotrophic Lateral Sclerosis"]
    C9ORF72_REPEAT_EXPANSION -->|"expressed in"| Dementia["Dementia"]
    C9ORF72_REPEAT_EXPANSION -->|"expressed in"| Als["Als"]
    C9ORF72_REPEAT_EXPANSION -->|"expressed in"| Ms["Ms"]
    SQSTM1["SQSTM1"] -->|"expressed in"| C9ORF72_REPEAT_EXPANSION
    GAIN["GAIN"] -->|"expressed in"| C9ORF72_REPEAT_EXPANSION
    OPTN["OPTN"] -->|"expressed in"| C9ORF72_REPEAT_EXPANSION
    ALS2["ALS2"] -->|"expressed in"| C9ORF72_REPEAT_EXPANSION
    C9ORF72 -->|"regulates"| C9ORF72_REPEAT_EXPANSION
    FIG4["FIG4"] -->|"expressed in"| C9ORF72_REPEAT_EXPANSION
    CHMP2B["CHMP2B"] -->|"expressed in"| C9ORF72_REPEAT_EXPANSION
    RAB5["RAB5"] -->|"expressed in"| C9ORF72_REPEAT_EXPANSION

Outgoing (114)

Target	Relation	Type	Str
benchmark_ot_ad_answer_key:C9ORF72 REPEAT EXPANSION	data_in	dataset_row	0.00
Amyotrophic Lateral Sclerosis	causes	disease	0.95
Methylation	associated_with	process	0.90
C9ORF72	inhibits	gene	0.90
FTD/ALS Combined Phenotype	biomarker_for	phenotype	0.90
TDP-43 aggregation	causes	process	0.90
C9ORF72	downregulates	gene	0.90
Poly(PR) accumulation	causes	process	0.90
Dipeptide Repeat Proteins	causes	protein	0.90
dipeptide repeat proteins	causes	protein	0.90
NEURODEGENERATION	causes	gene	0.90
p62-Positive Inclusions	causes	biomarker	0.85
C9ORF72 Transcript Loss	causes	process	0.85
Nuclear RNA Foci Formation	causes	process	0.85
GLIOSIS	causes	process	0.80
TDP-43 proteinopathy	causes	disease	0.80
protein translation	impairs	process	0.80
stress granule-resident proteins	aggregates_with	protein	0.80
motor deficits	causes	process	0.80
stress granule dynamics	impairs	process	0.80
cognitive deficits	causes	process	0.80
Cerebellum	expressed_in	brain_region	0.80
Clinical Trial Success	correlates_with	phenotype	0.75
Toxic Gain Of Function	causes	phenotype	0.70
Autophagy Dysfunction	causes	phenotype	0.70
Dementia	regulates	disease	0.65
Als	regulates	disease	0.65
Amyotrophic Lateral Sclerosis	regulates	disease	0.65
Frontotemporal Dementia	regulates	disease	0.65
Ftd	regulates	disease	0.65
Als	causes	disease	0.65
Ftd	causes	disease	0.65
Ms	causes	disease	0.65
Frontotemporal Dementia	activates	disease	0.65
Ftd	activates	disease	0.65
Dementia	causes	disease	0.65
Frontotemporal Dementia	causes	disease	0.65
Amyotrophic Lateral Sclerosis	causes	disease	0.65
Dementia	associated_with	disease	0.65
Ms	associated_with	disease	0.65
Amyotrophic Lateral Sclerosis	associated_with	disease	0.65
Als	associated_with	disease	0.65
Neurodegeneration	regulates	disease	0.65
Amyotrophic Lateral Sclerosis	expressed_in	disease	0.65
Dementia	expressed_in	disease	0.65
Als	expressed_in	disease	0.65
Ms	expressed_in	disease	0.65
Dementia	activates	disease	0.65
Neurodegeneration	activates	disease	0.65
Als	activates	disease	0.65

Incoming (49)

Source	Relation	Type	Str
benchmark_ot_ad_answer_key:C9ORF72 REPEAT EXPANSION	data_in	dataset_row	0.00
Rna Foci	associated_with	biomarker	0.90
RNA Toxicity	mediates	mechanism	0.85
Abnormal Translation	associated_with	process	0.75
ALS	associated_with	gene	0.60
GAIN	expressed_in	gene	0.60
OPTN	expressed_in	gene	0.60
ALS2	expressed_in	gene	0.60
C9ORF72	regulates	gene	0.60
ALS2	activates	gene	0.60
C9ORF72	activates	gene	0.60
FIG4	expressed_in	gene	0.60
CHMP2B	expressed_in	gene	0.60
RAB5	expressed_in	gene	0.60
NEURODEGENERATION	regulates	gene	0.60
MOTOR NEURONS	expressed_in	gene	0.60
VESICLE TRAFFICKING	regulates	gene	0.60
LYSOSOMAL BIOGENESIS	expressed_in	gene	0.60
DEMENTIA	expressed_in	gene	0.60
ALS	expressed_in	gene	0.60
NEURON	expressed_in	gene	0.60
ENDOSOMES	expressed_in	gene	0.60
NEURODEGENERATION	activates	gene	0.60
PUMA	activates	gene	0.60
DEMENTIA	activates	gene	0.60
P53	activates	gene	0.60
NEURON	causes	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	causes	gene	0.60
DEMENTIA	causes	gene	0.60
SQSTM1	causes	gene	0.60
ALS	causes	gene	0.60
SQSTM1	expressed_in	gene	0.60
MOTOR NEURONS	activates	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	associated_with	gene	0.60
DEMENTIA	associated_with	gene	0.60
C9ORF72	expressed_in	gene	0.60
CHMP2B	causes	gene	0.60
FIG4	causes	gene	0.60
MOTOR NEURONS	causes	gene	0.60
LYSOSOMAL BIOGENESIS	causes	gene	0.60
GAIN	causes	gene	0.60
ENDOSOMES	causes	gene	0.60
OPTN	causes	gene	0.60
RAB5	causes	gene	0.60
ALS2	causes	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	activates	gene	0.60
ALS	activates	gene	0.60
C9ORF72	inhibits	gene	0.50
Neurodegeneration	regulates	disease	0.50

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

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

Related Research

Hypotheses and analyses mentioning C9ORF72 REPEAT EXPANSION in their description or question text

No additional research found

C9ORF72 REPEAT EXPANSION

Understanding Entity Pages

Summary

Pathway Diagram

Outgoing (114)

Incoming (49)

Targeting Hypotheses (0)

Mentioning Analyses (3)

What upstream mechanisms trigger p53 activation specifically in response to poly

How can circuit-level neurodegeneration mechanisms be identified without complet

What are the neuron-specific effects of ALS-causing mutations on autophagy machi

Experiments (0)

Related Papers (0)

Debates (3)

While ALS-causing mutations impair autophagy factors, the neuron-specific effect

The debate transcript shows incomplete analysis where the Theorist reached maxim

The abstract shows p53 is a central regulator of C9orf72-mediated neurodegenerat

Related Research