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.

1496Connections

1Hypotheses

7Analyses

50Outgoing

50Incoming

0Experiments

9Debates

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	ALS, ALS/FTD, Aging, Alzheimer, Alzheimer's Disease
Known Drugs/Compounds	BIIB078, Antisense oligonucleotides
Interactions	NBR1, G3BP1, TOLLIP, SQSTM1, NDP52, TAX1BP1
KG Connections	1416 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 (21)

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 (1095)

Target	Relation	Type	Str
ALS	causes	disease	1.00
Als	associated_with	disease	1.00
Amyotrophic Lateral Sclerosis	associated_with	disease	1.00
NEURODEGENERATION	causes	disease	1.00
ALS	associated_with	gene	1.00
AMYOTROPHIC LATERAL SCLEROSIS	associated_with	gene	1.00
AMYOTROPHIC LATERAL SCLEROSIS	causes	gene	1.00
Dementia	causes	disease	1.00
Amyotrophic Lateral Sclerosis	causes	disease	1.00
DEMENTIA	causes	gene	1.00
POLY(PR)	product_of	protein	0.95
Vesicle Trafficking	regulates	process	0.95
Hexanucleotide Repeat Expansion	associated_with	biomarker	0.95
C9-ALS	risk_factor_for	disease	0.95
ALS/FTD	risk_factor_for	disease	0.95
Frontotemporal Lobar Degeneration	causes	disease	0.95
Motor Neuron Disease	causes	disease	0.95
Frontotemporal Lobar Degeneration	risk_factor_for	disease	0.95
GGGGCC Repeats	associated_with	biomarker	0.95
Amyotrophic Lateral Sclerosis/Frontotemporal Dementia	causes	disease	0.95
Als	activates	disease	0.95
Amyotrophic Lateral Sclerosis	risk_factor_for	disease	0.95
Ftd	risk_factor_for	disease	0.95
Frontotemporal Dementia	risk_factor_for	disease	0.95
ALS-FTD	risk_factor_for	disease	0.92
Gray Matter Atrophy	contributes_to	process	0.92
C9ORF72DIPEPTIDEREPEATPROTEINS	component_of	protein	0.90
Ftld	risk_factor_for	disease	0.90
Vesicle Trafficking	involved_in	process	0.90
Endosomes	interacts_with	cell_type	0.90
Motor Neuron Degeneration	causes	disease	0.90
POLY(PROLINE-ARGININE)	encodes	protein	0.90
Autoimmune Response	involved_in	process	0.90
Lysosomal Biogenesis	regulates	process	0.90
Trans-Golgi Network Function	regulates	phenotype	0.90
Autoimmune Response	associated_with	process	0.90
Motor Neuron Degeneration	contributes_to	process	0.90
Haploinsufficiency	causes	phenotype	0.90
FTD-ALS	causes	disease	0.90
Alternative Splicing	modulates	process	0.90
RNA foci	co_localizes	process	0.90
TDP-43 splicing repression	disrupts	process	0.90
TDP-43 proteinopathy	causes	disease	0.90
Frontotemporal Lobar Degeneration	associated_with	disease	0.90
Endosome	interacts_with	cell_type	0.90
Cerebellar Atrophy	causes	phenotype	0.90
ALS/FTD	associated_with	disease	0.90
Putamen Atrophy	causes	phenotype	0.90
White Matter Changes	contributes_to	process	0.90
motor neuron death	contributes_to	process	0.90

Incoming (401)

Source	Relation	Type	Str
BIIB078	targets	drug	0.95
G4C2 Repeat Expansion	biomarker_for	biomarker	0.92
C9ORF72 repeat expansion	inhibits	gene	0.90
repeat expansion	inhibits	phenotype	0.90
RAN_TRANSLATION	associated_with	gene	0.90
DIPEPTIDE_REPEAT_PROTEINS	associated_with	gene	0.90
Hexanucleotide Repeat Expansion	associated_with	biomarker	0.90
GGGGCC Hexanucleotide Repeat Expansion	associated_with	biomarker	0.90
C9Orf72 Repeat Expansion	downregulates	mechanism	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
ALS	interacts_with	entity	0.70
NEURODEGENERATIVE DISORDERS	therapeutic_target	gene	0.70
NEURODEGENERATIVE DISEASES	therapeutic_target	gene	0.70
INFLAMMATION	therapeutic_target	gene	0.70
ALS	associated_with	gene	0.70
PARKINSON'S DISEASE	increases_risk	disease	0.70
TDP-43	encodes	protein	0.65
TMEM106B	activates	gene	0.65
UBQLN2	exacerbates	gene	0.65
NEK1	exacerbates	gene	0.65
ALZHEIMER	associated_with	gene	0.65
ALS	targets	disease	0.65
ALS	expressed_in	disease	0.65
NEURONS	produces	cell_type	0.65
GGGGCC_repeat	inhibits	genetic_variant	0.64
ACTB	interacts_with	gene	0.60
OPTN	interacts_with	gene	0.60
ULK1	interacts_with	gene	0.60
SMCR8	interacts_with	gene	0.60
CALCOCO2	interacts_with	gene	0.60
LC3	interacts_with	gene	0.60
BECN1	interacts_with	gene	0.60
TARDBP	therapeutic_target	gene	0.60
GRN	therapeutic_target	gene	0.60
FUS	therapeutic_target	gene	0.60
SOD1	therapeutic_target	gene	0.60
GAIN	activates	gene	0.60
OPTN	expressed_in	gene	0.60
ALS2	expressed_in	gene	0.60
FIG4	expressed_in	gene	0.60
PUMA	activates	gene	0.60
GAIN	therapeutic_target	gene	0.60
SQSTM1	interacts_with	gene	0.60
P62	interacts_with	gene	0.60
WIPI2	regulates	gene	0.60
SQSTM1	expressed_in	gene	0.60
GAIN	protects_against	gene	0.60

Targeting Hypotheses (1)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
C9orf72-SMCR8-WDR41 Complex Dysfunction in C9-ALS Rescued by	0.537	neurodegeneration	How does PIKFYVE inhibition activate unc

Mentioning Analyses (7)

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 (9)

Multi-agent debates referencing this entity

C9ORF72

Understanding Entity Pages

Summary

Wiki Pages (21)

C9ORF72 (Redirect)

Personalized Treatment Plan — Atypical Parkinsonism (CBS/PSP)

Corticobasal Syndrome (CBS)

Novel Therapy Index

primary-progressive-aphasia

Atypical Parkinsonism

Pathway Diagram

Outgoing (1095)

Incoming (401)

Targeting Hypotheses (1)

Mentioning Analyses (7)

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 (9)

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

C9ORF72

Understanding Entity Pages

Summary

Wiki Pages (21)

C9ORF72 (Redirect)

Personalized Treatment Plan — Atypical Parkinsonism (CBS/PSP)

Corticobasal Syndrome (CBS)

Novel Therapy Index

primary-progressive-aphasia

Atypical Parkinsonism

calcium-dysregulation-comparison

Corticobasal Degeneration (CBD)

nimodipine-als

Therapeutics

NPM1 Gene

Frontotemporal Dementia (FTD) Mechanistic Pathway

neuroinflammation

NRF2 Oxidative Stress Pathway

Frontotemporal Dementia (FTD)

ALS Failed Approaches Analysis

Energy Metabolism Dysfunction Comparison Across Neurodegenerative Diseases

oxidative-stress-comparison

Blood-Brain Barrier Dysfunction in Neurodegeneration

ftd-tdp-pathology

Axonal Transport Dysfunction Comparison Across Neurodegenerative Diseases

Pathway Diagram

Outgoing (1095)

Incoming (401)

Targeting Hypotheses (1)

Mentioning Analyses (7)

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 (9)

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