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

1Analyses

50Outgoing

40Incoming

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	Autophagy Factors
Related Diseases	Dementia, Neurodegeneration, Als, Ms, Amyotrophic Lateral Sclerosis

Wiki Pages (20)

Knowledge base pages for this entity

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
Autophagy Factors	inhibits	protein	0.85
Dementia	activates	disease	0.65
Neurodegeneration	regulates	disease	0.65
Als	regulates	disease	0.65
Ms	regulates	disease	0.65
Amyotrophic Lateral Sclerosis	contributes_to	disease	0.65
Amyotrophic Lateral Sclerosis	therapeutic_target	disease	0.65
Dementia	therapeutic_target	disease	0.65
Frontotemporal Dementia	therapeutic_target	disease	0.65
Ftd	therapeutic_target	disease	0.65
Frontotemporal Dementia	activates	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
ATG	activates	gene	0.60
TFEB	activates	gene	0.60
GENES	regulates	gene	0.60
DNA	activates	gene	0.60
VCP	activates	gene	0.60
SPHK1	activates	gene	0.60
PINK1	activates	gene	0.60
MTOR	activates	gene	0.60
OVERVIEW	regulates	gene	0.60
CHMP2B	activates	gene	0.60
TARDBP	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
TARDBP	therapeutic_target	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
Proteasome	therapeutic_target	pathway	0.60

Incoming (41)

Source	Relation	Type	Str
PTEN	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
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
AMYOTROPHIC LATERAL SCLEROSIS	causes	gene	0.60
ALS	regulates	gene	0.60
AND	regulates	gene	0.60
NEURODEGENERATIVE DISEASES	causes	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
DNA	causes	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
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
STING	activates	gene	0.50
Neuron	activates	cell_type	0.50
NEURONS	activates	concept	0.50

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (1)

Scientific analyses that reference this entity

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

neurodegeneration | 2026-04-08 | 0 hypotheses

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

ALS-CAUSING MUTATIONS

Understanding Entity Pages

Summary

Wiki Pages (20)

oxidative-stress-comparison

Axonal Transport Dysfunction Comparison Across Neurodegenerative Diseases

TRA2B Protein - Transformer-2 Beta

Pre-symptomatic Conversion Windows in ALS Genetic Risk Carriers

Excitotoxicity Pathway

ALS Pipeline

NLRP3 Inflammasome Activation Pathway in Neurodegeneration

FTD-ALS Spectrum

SOD1 — Superoxide Dismutase 1

MAP1LC3A Gene

ALS Progression Trajectories

RNA Splicing Defects in Neurodegeneration

Amyotrophic Lateral Sclerosis Hypothesis Rankings

Dynactin Protein

ANG Protein (Angiogenin)

TIA1 Protein

uthealth-houston

Protein Synthesis in Neurodegenerative Diseases

Ubiquitin-Proteasome System in Neurodegeneration