SOD1
E133684
SOD1 is a gene encoding the antioxidant enzyme superoxide dismutase 1, whose mutations are a major known cause of familial amyotrophic lateral sclerosis (ALS).
All labels observed (4)
| Label | Occurrences |
|---|---|
| ALS1 gene | 1 |
| SOD1 canonical | 1 |
| SOD1 protein | 1 |
| yeast SOD1 | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T1169535 — resolving that mention is where its identity was fixed. The disambiguator weighed these candidate entities and picked the highlighted one (or “None”, minting a new entity). This is how homonymy is resolved: the same surface form can point to different entities.
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: SOD1 Context triple: [ALS, associatedWithGene, SOD1]
-
A.
ALS
ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
-
B.
spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
-
C.
Spinraza
Spinraza is a prescription medication used to treat spinal muscular atrophy (SMA) by modifying SMN2 gene expression to increase production of survival motor neuron (SMN) protein.
-
D.
Sarine
The Sarine is a major river in western Switzerland that flows through the canton of Fribourg and ultimately joins the Aare.
-
E.
Hipple
Hipple is the birth surname of American film and television actor Hugh Marlowe.
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: SOD1 Target entity description: SOD1 is a gene encoding the antioxidant enzyme superoxide dismutase 1, whose mutations are a major known cause of familial amyotrophic lateral sclerosis (ALS).
-
A.
ALS
ALS (amyotrophic lateral sclerosis) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord, leading to muscle weakness, paralysis, and ultimately respiratory failure.
-
B.
spinal muscular atrophy
Spinal muscular atrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord.
-
C.
Spinraza
Spinraza is a prescription medication used to treat spinal muscular atrophy (SMA) by modifying SMN2 gene expression to increase production of survival motor neuron (SMN) protein.
-
D.
Sarine
The Sarine is a major river in western Switzerland that flows through the canton of Fribourg and ultimately joins the Aare.
-
E.
Hipple
Hipple is the birth surname of American film and television actor Hugh Marlowe.
- F. None of above. chosen
Statements (48)
| Predicate | Object |
|---|---|
| instanceOf |
gene
ⓘ
protein-coding gene ⓘ |
| associatedWithDisease |
ALS
ⓘ
surface form:
ALS1
amyotrophic lateral sclerosis ⓘ familial amyotrophic lateral sclerosis ⓘ |
| discoveredAsCauseOf | familial ALS in the 1990s ⓘ |
| encodes |
Cu,Zn superoxide dismutase
ⓘ
superoxide dismutase 1 ⓘ |
| expressedIn |
brain
ⓘ
erythrocytes ⓘ kidney ⓘ liver ⓘ motor neurons ⓘ |
| foundInTaxon | Homo sapiens ⓘ |
| hasAlternativeName |
SOD1
ⓘ
surface form:
ALS1 gene
Cu,Zn SOD ⓘ superoxide dismutase [Cu-Zn] ⓘ |
| hasBiologicalProcess |
cellular response to oxidative stress
ⓘ
reactive oxygen species metabolic process ⓘ superoxide metabolic process ⓘ |
| hasCellularComponent |
cytoplasm
ⓘ
cytosol ⓘ mitochondrion ⓘ nucleus ⓘ |
| hasEnzymeCommissionNumber | EC 1.15.1.1 ⓘ |
| hasGeneProduct |
SOD1
self-linksurface differs
ⓘ
surface form:
SOD1 protein
|
| hasInheritancePatternWhenMutated |
autosomal dominant
ⓘ
rarely autosomal recessive ⓘ |
| hasMolecularFunction |
copper ion binding
ⓘ
metal ion binding ⓘ superoxide dismutase activity ⓘ zinc ion binding ⓘ |
| hasMutationEffect |
gain-of-function toxicity in motor neurons
ⓘ
protein aggregation ⓘ protein misfolding ⓘ |
| involvedInPathway |
oxidative phosphorylation-related stress response
ⓘ
reactive oxygen species detoxification pathway ⓘ |
| locatedIn |
21q22.11
ⓘ
chromosome 21 ⓘ |
| mappedToDatabase |
Entrez Gene:6647
ⓘ
HGNC:11179 ⓘ UniProt:P00441 ⓘ |
| orthologOf |
mouse Sod1
ⓘ
SOD1 self-linksurface differs ⓘ
surface form:
yeast SOD1
|
| participatesIn |
detoxification of superoxide radicals
ⓘ
oxidative stress defense ⓘ |
| subjectOf |
ALS transgenic mouse models
ⓘ
gene therapy research for ALS ⓘ |
How these facts were elicited
The pipeline generated the facts above by prompting gpt-5.1 with this entity's name + description and the instruction below.
Instruction
You are a knowledge base construction expert. Given a subject entity and a description of it, return factual statements that you know for the subject as a JSON list of dictionaries(triples), where keys must be "subject", "predicate" and "object". The number of facts may be very high, between 25 to 50 or more, for very popular subjects. For less popular subjects, the number of facts can be very low, like 5 or 10. # Requirements - If you don't know the subject at all, return an empty list. - If the subject is not a named entity, return an empty list. - Include at least one triple where predicate is "instanceOf". - Do not get too wordy. - Separate several objects into multiple triples with one object.
Input
Subject: SOD1 Description of subject: SOD1 is a gene encoding the antioxidant enzyme superoxide dismutase 1, whose mutations are a major known cause of familial amyotrophic lateral sclerosis (ALS).
Referenced by (4)
Full triples — surface form annotated when it differs from this entity's canonical label.
this entity surface form:
SOD1 protein
this entity surface form:
yeast SOD1
this entity surface form:
ALS1 gene