concept

GENETIC MUTATIONS

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about GENETIC 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.

166Connections

0Hypotheses

0Analyses

50Outgoing

50Incoming

No summary available yet. View on Wiki →

💡 Concept Info

Name	GENETIC MUTATIONS
Related Diseases	Familial Frontotemporal Dementia, Parkinson, ALS, Epilepsy, Inflammation

Wiki Pages (20)

Knowledge base pages for this entity

Pathway Diagram

graph TD
    GENETIC_MUTATIONS["GENETIC MUTATIONS"]
    style GENETIC_MUTATIONS fill:#1a237e,stroke:#4fc3f7,stroke-width:3px
    GENETIC_MUTATIONS -->|"causes"| Familial_Frontotemporal_Dement["Familial Frontotemporal Dementia"]
    GENETIC_MUTATIONS -->|"causes"| Amyotrophic_Lateral_Sclerosis["Amyotrophic Lateral Sclerosis"]
    GENETIC_MUTATIONS -->|"causes"| Hepatocellular_Carcinoma["Hepatocellular Carcinoma"]
    GENETIC_MUTATIONS -.->|"biomarker for"| Endometriosis_Associated_Ovari["Endometriosis-Associated Ovarian Cancer"]
    GENETIC_MUTATIONS -->|"mediates"| Malignant_Transformation["Malignant Transformation"]
    GENETIC_MUTATIONS -->|"regulates"| Parkinson["Parkinson"]
    GENETIC_MUTATIONS -->|"regulates"| Senescence["Senescence"]
    GENETIC_MUTATIONS -->|"contributes to"| Alzheimer["Alzheimer"]
    GENETIC_MUTATIONS -->|"contributes to"| Huntington["Huntington"]
    GENETIC_MUTATIONS -->|"contributes to"| Neurodegeneration["Neurodegeneration"]
    Alzheimer_s_Disease["Alzheimer's Disease"] -->|"causes"| GENETIC_MUTATIONS
    PARKINSON([PARKINSON]) -->|"regulates"| GENETIC_MUTATIONS
    NEURODEGENERATIVE_DISEASES([NEURODEGENERATIVE DISEASES]) -->|"regulates"| GENETIC_MUTATIONS
    NEURODEGENERATION([NEURODEGENERATION]) -->|"contributes to"| GENETIC_MUTATIONS
    ASTROCYTE([ASTROCYTE]) -->|"causes"| GENETIC_MUTATIONS
    ALZHEIMER_DISEASE([ALZHEIMER DISEASE]) -->|"contributes to"| GENETIC_MUTATIONS
    AMYOTROPHIC_LATERAL_SCLEROSIS([AMYOTROPHIC LATERAL SCLEROSIS]) -->|"contributes to"| GENETIC_MUTATIONS
    ALZHEIMER([ALZHEIMER]) -->|"contributes to"| GENETIC_MUTATIONS
    HUNTINGTON([HUNTINGTON]) -->|"contributes to"| GENETIC_MUTATIONS

Outgoing (102)

Target	Relation	Type	Str
Familial Frontotemporal Dementia	causes	disease	0.95
Parkinson	regulates	disease	0.65
ALS	associated_with	disease	0.65
Epilepsy	associated_with	disease	0.65
Inflammation	associated_with	disease	0.65
Senescence	regulates	disease	0.65
Alzheimer	contributes_to	disease	0.65
Huntington	contributes_to	disease	0.65
Neurodegeneration	contributes_to	disease	0.65
Amyotrophic Lateral Sclerosis	contributes_to	disease	0.65
Parkinson	contributes_to	disease	0.65
Cancer	causes	disease	0.65
ALS	causes	disease	0.65
Tumor	associated_with	disease	0.65
Cancer	associated_with	disease	0.65
Carcinoma	associated_with	disease	0.65
Amyotrophic Lateral Sclerosis	causes	disease	0.65
Tumor	inhibits	disease	0.65
Cancer	inhibits	disease	0.65
Aging	inhibits	disease	0.65
Senescence	inhibits	disease	0.65
Aging	associated_with	disease	0.65
Neurodegeneration	causes	disease	0.65
Aging	contributes_to	disease	0.65
Parkinson	causes	disease	0.65
Inflammation	causes	disease	0.65
Amyotrophic Lateral Sclerosis	regulates	disease	0.65
Amyotrophic Lateral Sclerosis	associated_with	disease	0.65
Anxiety	associated_with	disease	0.65
PARKINSON'S DISEASE	regulates	gene	0.60
HCN1	associated_with	gene	0.60
APOPTOSIS	regulates	gene	0.60
AND	regulates	gene	0.60
PIEZO	associated_with	gene	0.60
PIEZO1	regulates	gene	0.60
PIEZO2	regulates	gene	0.60
Apoptosis	regulates	pathway	0.60
NEURODEGENERATIVE DISORDERS	causes	gene	0.60
AND	causes	gene	0.60
CANCER	causes	gene	0.60
MICRORNAS	associated_with	gene	0.60
CANCER	associated_with	gene	0.60
PI3K	associated_with	gene	0.60
Oxidative Stress	associated_with	pathway	0.60
Pi3K/Akt	associated_with	pathway	0.60
Dna Repair	associated_with	pathway	0.60
Mtor	associated_with	pathway	0.60
Autophagy	associated_with	pathway	0.60
Immune Response	associated_with	pathway	0.60
CANCER	inhibits	gene	0.60

Incoming (64)

Source	Relation	Type	Str
EPILEPSY	associated_with	gene	0.60
PARKINSON	regulates	gene	0.60
HCN2	associated_with	gene	0.60
HCN4	associated_with	gene	0.60
AND	associated_with	gene	0.60
NEURODEGENERATIVE DISEASES	regulates	gene	0.60
INFLAMMATION	associated_with	gene	0.60
NEURODEGENERATION	contributes_to	gene	0.60
ASTROCYTE	causes	gene	0.60
ALZHEIMER DISEASE	contributes_to	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	contributes_to	gene	0.60
PARKINSON	contributes_to	gene	0.60
ALZHEIMER	contributes_to	gene	0.60
HUNTINGTON	contributes_to	gene	0.60
AND	causes	gene	0.60
ASTROCYTES	causes	gene	0.60
DNA	associated_with	gene	0.60
AKT	associated_with	gene	0.60
OXIDATIVE STRESS	associated_with	gene	0.60
MTOR	associated_with	gene	0.60
GENES	causes	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	causes	gene	0.60
NEURON	causes	gene	0.60
AUTOPHAGY	associated_with	gene	0.60
AKT1	associated_with	gene	0.60
SIRT1	associated_with	gene	0.60
VPS11	associated_with	gene	0.60
AGING	inhibits	gene	0.60
DNA	inhibits	gene	0.60
NATURAL COMPOUNDS	inhibits	gene	0.60
MDM2	inhibits	gene	0.60
AND	inhibits	gene	0.60
FOXP3	associated_with	gene	0.60
HEDGEHOG	associated_with	gene	0.60
AND	interacts_with	gene	0.60
AMYLOID	associated_with	gene	0.60
APP	associated_with	gene	0.60
ALZHEIMER'S DISEASE	contributes_to	gene	0.60
AGING	contributes_to	gene	0.60
NEURODEGENERATION	causes	gene	0.60
PARKINSON	causes	gene	0.60
MITOCHONDRIA	causes	gene	0.60
CAV1	contributes_to	gene	0.60
INFLAMMATION	causes	gene	0.60
DJ-1	contributes_to	gene	0.60
AND	contributes_to	gene	0.60
GUT-BRAIN AXIS	causes	gene	0.60
SOD1	associated_with	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	regulates	gene	0.60
AUTOPHAGY	regulates	gene	0.60

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

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

GENETIC MUTATIONS

Understanding Entity Pages

Wiki Pages (20)

Corticobasal Syndrome (CBS)

Alpha-Synuclein Pathology

nhp-validation-animal-model

Circadian Rhythm in Neurodegeneration

Kabuki Syndrome

Axonal Transport Dysfunction Comparison Across Neurodegenerative Diseases

Epigenetic Dysregulation Comparison -- AD/PD/ALS/FTD/HD

Pre-symptomatic Conversion Windows in ALS Genetic Risk Carriers

Synucleinopathies

TDP-43 Proteinopathy

Chaperone-Mediated Autophagy in Neurodegeneration

genetics

ZFYVE26 Gene

Lysosomal Dysfunction in Neurodegeneration

Neurotransmitter System Changes in 4R-Tauopathies: Cross-Disease Comparison

Alpha-Synuclein Aggregation Pathway

Etalanetug (E2814)

semantic-dementia