disease

c9orf72-repeat-expansion-als

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about c9orf72-repeat-expansion-als: 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.

0Connections
0Hypotheses
0Analyses
0Outgoing
0Incoming

No summary available yet. View on Wiki →

Wiki Pages (5)

Knowledge base pages for this entity

ALS-FTD Spectrum

disease · 3586 words

Diseases

index · 3070 words

CBS Natural History Study (NCT06691234)

clinical · 2866 words

TDP-43 Proteinopathy Neurons in Frontotemporal Dementia

cell · 966 words

Diagnostic Biomarkers in Neurodegeneration

mechanism · 959 words

Pathway Diagram

graph TD
    C9ORF72["C9ORF72"]
    DEMENTIA["DEMENTIA"]
    C9ORF72 -->|"activates"| DEMENTIA
    TDP_43["TDP-43"]
    C9ORF72 -->|"inhibits"| TDP_43
    C9ORF72 -->|"associated_with"| TDP_43
    Dementia["Dementia"]
    C9ORF72 -->|"expressed_in"| Dementia
    STAU1["STAU1"]
    C9ORF72 -->|"therapeutic_target"| STAU1
    C9ORF72 -->|"activates"| Dementia
    ATP13A2["ATP13A2"]
    C9ORF72 -->|"associated_with"| ATP13A2
    SMCR8["SMCR8"]
    C9ORF72 -->|"inhibits"| SMCR8
    Schizophrenia["Schizophrenia"]
    C9ORF72 -->|"expressed_in"| Schizophrenia
    ALS["ALS"]
    C9ORF72 -->|"regulates"| ALS
    RICTOR["RICTOR"]
    C9ORF72 -->|"activates"| RICTOR
    CHMP2B["CHMP2B"]
    C9ORF72 -->|"associated_with"| CHMP2B
    style C9ORF72 fill:#ef5350,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0
    style DEMENTIA fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style TDP_43 fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style Dementia fill:#ef5350,stroke:#333,stroke-width:1px,color:#e0e0e0
    style STAU1 fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style ATP13A2 fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style SMCR8 fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style Schizophrenia fill:#ef5350,stroke:#333,stroke-width:1px,color:#e0e0e0
    style ALS fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style RICTOR fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0
    style CHMP2B fill:#006494,stroke:#333,stroke-width:1px,color:#e0e0e0

Outgoing (0)

TargetRelationTypeStr
No outgoing edges

Incoming (0)

SourceRelationTypeStr
No incoming edges

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found