gene

C9ORF72

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about C9ORF72: 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.

1530Connections

6Hypotheses

8Analyses

50Outgoing

50Incoming

0Experiments

10Debates

Summary

C9ORF72 is a gene implicated in neurodegeneration research. Key relationships include: associated with, interacts with, activates. Associated with ALS, ALS/FTD, AMYOTROPHIC LATERAL SCLEROSIS. Connected to 647 entities in the SciDEX knowledge graph.

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🧬 Gene Info

Gene Symbol	C9ORF72
Chromosome	chromosome 9p21.2.
Protein Type	Protein
Function	is a 481-amino acid protein with an approximate molecular weight of 54 kDa.
Primary Expression	Normal and Neoplastic cells) domain family, functioning as a guanine nucleotide exchange factor (GEF) for Rab GTPases involved in endolysosomal traffi
Molecular Weight	54 kDa
Pathways	Apoptosis, Autophagy, Er Stress, LYSOSOMES, Microbiota
UniProt ID	Search UniProt
GeneCards	C9ORF72
Human Protein Atlas	C9ORF72
Associated Diseases	Aging, Als, ALS/FTD, Alzheimer, Alzheimer's Disease
Known Drugs/Compounds	Antisense oligonucleotides, BIIB078
Interactions	ACTB, Actin, AKT, ALS, ALS2, ALS-CAUSING MUTATIONS
SciDEX Hypotheses	C9orf72 ASO Treatment Reverses TDP-43 Pathology in Axonal Transport Defect: C9orf72 hexanucleotide ex
KG Connections	1445 knowledge graph edges
Databases	GeneCards NCBI Gene HPA STRING

🔮 Predicted Structure: C9ORF72 — AlphaFold SEARCH Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (3)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    C9ORF72["C9ORF72 Gene"] -->|"Regulates"| Vesicles["Vesicle Trafficking"]
    C9ORF72 -->|"Regulates"| Lysosomes["Lysosomal Biogenesis"]
    C9ORF72 -->|"Binds"| Endosomes["Endosomes"]
    C9ORF72 -->|"Regulates"| Proteostasis["Proteostasis"]
    RepeatExp["GGGGCC Repeat Expansion"] -->|"Inhibits"| C9ORF72
    RepeatExp -->|"Produces"| DPR["Dipeptide Repeat Proteins"]
    RepeatExp -->|"Triggers"| RAN["RAN Translation"]
    DPR -.Toxic to.-> Neurons["Motor Neurons"]
    C9ORF72 -->|"Causes when mutated"| ALS["ALS"]
    C9ORF72 -->|"Causes when mutated"| FTD["Frontotemporal Dementia"]
    C9ORF72 -->|"Causes when mutated"| ALSFTD["ALS/FTD Spectrum"]
    RAN -.Disrupts.-> Proteostasis

Outgoing (1114)

Target	Relation	Type	Str
benchmark_ot_ad_answer_key:C9ORF72	data_in	dataset_row	0.00
Amyotrophic Lateral Sclerosis	associated_with	disease	1.00
NEURODEGENERATION	causes	disease	1.00
AMYOTROPHIC LATERAL SCLEROSIS	causes	gene	1.00
Amyotrophic Lateral Sclerosis	causes	disease	1.00
Dementia	causes	disease	1.00
Als	associated_with	disease	1.00
ALS	associated_with	gene	1.00
AMYOTROPHIC LATERAL SCLEROSIS	associated_with	gene	1.00
ALS	causes	disease	1.00
DEMENTIA	causes	gene	1.00
Als	activates	disease	0.95
vesicle trafficking	regulates	pathway	0.95
Hexanucleotide Repeat Expansion	associated_with	biomarker	0.95
C9-ALS	risk_factor_for	disease	0.95
Ftd	associated_with	disease	0.95
Frontotemporal Lobar Degeneration	causes	disease	0.95
POLY(PR)	product_of	protein	0.95
Motor Neuron Disease	causes	disease	0.95
Frontotemporal Dementia	associated_with	disease	0.95
Frontotemporal Lobar Degeneration	associated_with	disease	0.95
Vesicle Trafficking	regulates	process	0.95
Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	causes	disease	0.95
ALS/FTD	associated_with	disease	0.95
GGGGCC Repeats	associated_with	biomarker	0.95
Gray Matter Atrophy	contributes_to	process	0.92
ALS-FTD	risk_factor_for	disease	0.92
ENDOSOMES	binds	gene	0.90
Dipeptide Repeat Proteins	causes	compound	0.90
Neurodegeneration	associated_with	process	0.90
Putamen Atrophy	causes	phenotype	0.90
White Matter Changes	contributes_to	process	0.90
C9ORF72DIPEPTIDEREPEATPROTEINS	component_of	protein	0.90
RNA foci	co_localizes	process	0.90
TDP-43 proteinopathy	causes	disease	0.90
Lysosomal Biogenesis	regulates	process	0.90
frontotemporal dementia	causes	disease	0.90
protein misfolding	causes	pathway	0.90
Cerebellar Atrophy	causes	phenotype	0.90
TDP-43 splicing repression	disrupts	process	0.90
amyotrophic lateral sclerosis	associated_with	disease	0.90
Autoimmune Response	associated_with	process	0.90
Trans-Golgi Network Function	regulates	phenotype	0.90
lysosomal biogenesis	regulates	pathway	0.90
motor neuron death	contributes_to	process	0.90
Endosome	interacts_with	cell_type	0.90
Motor Neuron Degeneration	associated_with	process	0.90
POLY(PROLINE-ARGININE)	encodes	protein	0.90
Autoimmune Response	involved_in	process	0.90
Haploinsufficiency	causes	phenotype	0.90

Incoming (416)

Source	Relation	Type	Str
benchmark_ot_ad_answer_key:C9ORF72	data_in	dataset_row	0.00
BIIB078	targets	drug	0.95
G4C2 Repeat Expansion	biomarker_for	biomarker	0.92
32100453	regulates	paper	0.90
C9Orf72 Repeat Expansion	downregulates	mechanism	0.90
GGGGCC Hexanucleotide Repeat Expansion	associated_with	biomarker	0.90
AMYOTROPHIC LATERAL SCLEROSIS	associated_with	gene	0.90
RAN_TRANSLATION	associated_with	gene	0.90
32100453	affects	paper	0.90
DIPEPTIDE_REPEAT_PROTEINS	associated_with	gene	0.90
repeat expansion	inhibits	phenotype	0.90
C9ORF72 repeat expansion	inhibits	gene	0.90
als	describes	wiki	0.90
Hexanucleotide Repeat Expansion	associated_with	biomarker	0.90
GGGGCC Repeat Expansion	downregulates	biomarker	0.85
Antisense oligonucleotides	targets	drug	0.85
rs12608932	associated_with	biomarker	0.80
GGGGCC_repeat	associated_with	genetic_variant	0.72
AMPK	activates	gene	0.70
ACHE	expresses	gene	0.70
AMYOTROPHIC LATERAL SCLEROSIS	targets	disease	0.70
ASTROCYTE	activates	cell_type	0.70
MMP9	regulates	gene	0.70
NEURODEGENERATIVE DISEASES	therapeutic_target	gene	0.70
INFLAMMATION	therapeutic_target	gene	0.70
PARKINSON'S DISEASE	increases_risk	disease	0.70
ALS	associated_with	gene	0.70
NEURODEGENERATIVE DISORDERS	therapeutic_target	gene	0.70
ALS	interacts_with	entity	0.70
ALS	expressed_in	disease	0.65
NEK1	exacerbates	gene	0.65
UBQLN2	exacerbates	gene	0.65
ALS	targets	disease	0.65
ALZHEIMER	associated_with	gene	0.65
NEURONS	produces	cell_type	0.65
TDP-43	encodes	protein	0.65
TMEM106B	activates	gene	0.65
GGGGCC_repeat	inhibits	genetic_variant	0.64
NEURON	causes	gene	0.60
OPTINEURIN	interacts_with	gene	0.60
NEURON	encodes	gene	0.60
G3BP1	interacts_with	gene	0.60
GRN	activates	gene	0.60
TARDBP	expressed_in	gene	0.60
NEURON	regulates	gene	0.60
ASTROCYTES	regulates	gene	0.60
C9ORF72 REPEAT EXPANSION	inhibits	gene	0.60
OPTN	associated_with	gene	0.60
PROGRANULIN	associated_with	gene	0.60
AUTOPHAGY	causes	pathway	0.60

Targeting Hypotheses (6)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
C9orf72 Hexanucleotide Repeat Dipeptide Repeat Proteins Inhi	0.738	neurodegeneration	Legacy Pre-Pipeline Hypothesis Import
C9orf72 ASO Treatment Reverses TDP-43 Pathology in ALS/FTD	0.720	neurodegeneration	Test Hypothesis Fixtures
C9orf72 DPRs Impair Autophagy Receptor Docking on Stress Gra	0.717	neurodegeneration	How do pathological stress granules in n
H5: C9orf72 DPR Dipeptides Corrupt G3BP1 Condensate Properti	0.698	neurodegeneration	How do pathological stress granules tran
Axonal Transport Defect: C9orf72 hexanucleotide expansion im	0.660	neurodegeneration	What are the neuron-specific effects of

C9orf72-SMCR8-WDR41 Complex Dysfunction in C9-ALS Rescued by	0.562	neurodegeneration	How does PIKFYVE inhibition activate unc

Mentioning Analyses (8)

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 (10)

Multi-agent debates referencing this entity

Related Research

Hypotheses and analyses mentioning C9ORF72 in their description or question text

C9orf72-SMCR8-WDR41 Complex Dysfunction in C9-ALS Rescued by PIKFYVE Inhibition

Score: 0.562 · neurodegeneration · 2026-04-13

## Mechanistic Overview C9orf72-SMCR8-WDR41 Complex Dysfunction in C9-ALS Rescued by PIKFYVE Inhibition via Lysosomal Ex

C9ORF72

Understanding Entity Pages

Summary

Wiki Pages (3)

C9orf72 Protein

PTPσ (PTPRS) in C9ORF72-ALS/FTD - PI3P Regulation Mechanism

C9ORF72 (Redirect)

Pathway Diagram

Outgoing (1114)

Incoming (416)

Targeting Hypotheses (6)

Mentioning Analyses (8)

Is ferroptosis the primary driver of motor neuron death in ALS or an epiphenomen

What upstream mechanisms trigger p53 activation specifically in response to poly

What molecular mechanism causes VCP mutations to trigger aberrant HIF-1α activat

How does PIKFYVE inhibition activate unconventional protein clearance via exocyt

RNA binding protein dysregulation across ALS FTD and AD

Digital biomarkers and AI-driven early detection of neurodegeneration

Autophagy-lysosome pathway convergence across neurodegenerative diseases

TDP-43 phase separation therapeutics for ALS-FTD

Experiments (0)

Related Papers (0)

Debates (10)

The debate highlighted compelling correlative evidence for ferroptosis markers i

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

The study shows VCP-mutant astrocytes exhibit hypoxia response activation withou

How does PIKFYVE inhibition activate unconventional protein clearance via exocyt

RNA binding protein dysregulation across ALS FTD and AD

TDP-43 undergoes liquid-liquid phase separation that becomes pathological. Small

TDP-43 phase separation therapeutics for ALS-FTD

Multiple NDDs converge on autophagy-lysosome dysfunction. Are there universal th

Can speech, gait, retinal imaging, sleep, and smartphone data detect neurodegene

RNA binding protein dysregulation across ALS FTD and AD

Related Research

C9orf72-SMCR8-WDR41 Complex Dysfunction in C9-ALS Rescued by PIKFYVE Inhibition