concept

ALS-CAUSING MUTATIONS

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about ALS-CAUSING 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.

124Connections

0Hypotheses

0Analyses

50Outgoing

41Incoming

0Experiments

0Debates

Summary

ALS-CAUSING MUTATIONS is a concept in neurodegeneration research. Key relationships include: activates, therapeutic target, regulates. Associated with Als, Amyotrophic Lateral Sclerosis, Dementia. Connected to 74 entities in the SciDEX knowledge graph.

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💡 Concept Info

Name	ALS-CAUSING MUTATIONS
Key Genes/Proteins	ALS, AMYOTROPHIC LATERAL SCLEROSIS, AND, ATG, AUTOPHAGY, Autophagy Factors
Related Diseases	Als, Amyotrophic Lateral Sclerosis, Dementia, disease
Related Pathways	Autophagy

Pathway Diagram

graph TD
    ALS_CAUSING_MUTATIONS["ALS-CAUSING MUTATIONS"]
    ALS_CAUSING_MUTATIONS -->|"inhibits"| autophagy["autophagy"]
    ALS_CAUSING_MUTATIONS -->|"activates"| Dementia["Dementia"]
    ALS_CAUSING_MUTATIONS -->|"regulates"| Neurodegeneration["Neurodegeneration"]
    ALS_CAUSING_MUTATIONS -->|"regulates"| Als["Als"]
    ALS_CAUSING_MUTATIONS -->|"regulates"| Ms["Ms"]
    ALS_CAUSING_MUTATIONS -->|"contributes to"| Amyotrophic_Lateral_Sclerosis["Amyotrophic Lateral Sclerosis"]
    ALS_CAUSING_MUTATIONS -->|"target for"| Frontotemporal_Dementia["Frontotemporal Dementia"]
    ALS_CAUSING_MUTATIONS -->|"target for"| Ftd["Ftd"]
    PTEN["PTEN"] -->|"activates"| ALS_CAUSING_MUTATIONS
    MAP1LC3["MAP1LC3"] -->|"activates"| ALS_CAUSING_MUTATIONS
    OVERVIEW["OVERVIEW"] -->|"regulates"| ALS_CAUSING_MUTATIONS
    GENES["GENES"] -->|"regulates"| ALS_CAUSING_MUTATIONS
    NEURODEGENERATIVE_DISEASES["NEURODEGENERATIVE DISEASES"] -->|"contributes to"| ALS_CAUSING_MUTATIONS
    NEURODEGENERATION["NEURODEGENERATION"] -->|"regulates"| ALS_CAUSING_MUTATIONS
    CHMP2B["CHMP2B"] -->|"activates"| ALS_CAUSING_MUTATIONS
    MTOR["MTOR"] -->|"activates"| ALS_CAUSING_MUTATIONS
    LC3["LC3"] -->|"activates"| ALS_CAUSING_MUTATIONS
    DNA["DNA"] -->|"activates"| ALS_CAUSING_MUTATIONS

Outgoing (83)

Target	Relation	Type	Str
benchmark_ot_ad_answer_key:ALS-CAUSING MUTATIONS	data_in	dataset_row	0.00
AUTOPHAGY	inhibits	pathway	0.90
Autophagy	inhibits	pathway	0.90
autophagy	inhibits	pathway	0.90
Autophagy Factors	inhibits	protein	0.85
Autophagy Pathway	inhibits	pathway	0.80
Dementia	activates	disease	0.65
Amyotrophic Lateral Sclerosis	contributes_to	disease	0.65
Neurodegeneration	regulates	disease	0.65
Frontotemporal Dementia	therapeutic_target	disease	0.65
Ms	regulates	disease	0.65
Amyotrophic Lateral Sclerosis	therapeutic_target	disease	0.65
Dementia	therapeutic_target	disease	0.65
Als	regulates	disease	0.65
Ftd	therapeutic_target	disease	0.65
Amyotrophic Lateral Sclerosis	causes	disease	0.65
Ftd	activates	disease	0.65
Als	causes	disease	0.65
Amyotrophic Lateral Sclerosis	activates	disease	0.65
Parkinson	activates	disease	0.65
Frontotemporal Dementia	activates	disease	0.65
NEURODEGENERATION	regulates	gene	0.60
PTEN	activates	gene	0.60
MAP1LC3	activates	gene	0.60
DEMENTIA	activates	gene	0.60
Tdp-43	activates	pathway	0.60
AND	activates	gene	0.60
NEURODEGENERATIVE DISEASES	activates	gene	0.60
VALOSIN	activates	gene	0.60
LC3	activates	gene	0.60
TBK1	activates	gene	0.60
Proteasome	activates	pathway	0.60
Autophagy	regulates	pathway	0.60
Ubiquitin-Proteasome	activates	pathway	0.60
Unfolded Protein Response	activates	pathway	0.60
Mtor	activates	pathway	0.60
ATG	therapeutic_target	gene	0.60
CHMP2B	therapeutic_target	gene	0.60
LC3	therapeutic_target	gene	0.60
MAP1LC3	therapeutic_target	gene	0.60
MTOR	therapeutic_target	gene	0.60
PINK1	therapeutic_target	gene	0.60
PTEN	therapeutic_target	gene	0.60
SPHK1	therapeutic_target	gene	0.60
ATG	activates	gene	0.60
TBK1	therapeutic_target	gene	0.60
TFEB	therapeutic_target	gene	0.60
VALOSIN	therapeutic_target	gene	0.60
VCP	therapeutic_target	gene	0.60
Mtor	therapeutic_target	pathway	0.60

Incoming (41)

Source	Relation	Type	Str
benchmark_ot_ad_answer_key:ALS-CAUSING MUTATIONS	data_in	dataset_row	0.00
AMYOTROPHIC LATERAL SCLEROSIS	causes	gene	0.60
ALS	regulates	gene	0.60
NEURODEGENERATIVE DISEASES	causes	gene	0.60
DNA	causes	gene	0.60
AND	regulates	gene	0.60
CHMP2B	activates	gene	0.60
MTOR	activates	gene	0.60
LC3	activates	gene	0.60
DNA	activates	gene	0.60
VCP	activates	gene	0.60
UBIQUITIN	activates	gene	0.60
ATG	activates	gene	0.60
NEURON	regulates	gene	0.60
VALOSIN	activates	gene	0.60
MAP1LC3	activates	gene	0.60
OVERVIEW	regulates	gene	0.60
GENES	regulates	gene	0.60
NEURODEGENERATIVE DISEASES	contributes_to	gene	0.60
NEURODEGENERATION	regulates	gene	0.60
GENES	activates	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	activates	gene	0.60
C9ORF72	activates	gene	0.60
ALS	causes	gene	0.60
NEURON	causes	gene	0.60
PTEN	activates	gene	0.60
TBK1	activates	gene	0.60
SPHK1	activates	gene	0.60
TARDBP	activates	gene	0.60
DEMENTIA	activates	gene	0.60
TDP-43	activates	gene	0.60
PINK1	activates	gene	0.60
AUTOPHAGY	regulates	gene	0.60
STING	activates	gene	0.50
Neuron	activates	cell_type	0.50
NEURONS	activates	concept	0.50
OVERVIEW	inhibits	gene	0.50
Neurodegeneration	inhibits	disease	0.50
Autophagy	inhibits	process	0.50
Neuron	inhibits	cell_type	0.50
disease	inhibits	disease	0.50

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 ALS-CAUSING MUTATIONS in their description or question text

No additional research found