APOE gene
E494100
The APOE gene encodes apolipoprotein E, a key protein in lipid metabolism whose variants, especially ε4, strongly influence risk for Alzheimer’s disease and cardiovascular disorders.
All labels observed (1)
| Label | Occurrences |
|---|---|
| APOE gene canonical | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T5114788 — 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: APOE gene Context triple: [APOE ε4 allele, partOf, APOE gene]
-
A.
APOE ε4 allele
The APOE ε4 allele is a genetic variant of the apolipoprotein E gene that significantly increases an individual's susceptibility to late-onset Alzheimer's disease.
-
B.
C9orf72
C9orf72 is a human gene whose hexanucleotide repeat expansions are the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
-
C.
TARDBP
TARDBP is a gene encoding the TDP-43 protein, a DNA/RNA-binding protein whose abnormal aggregation is a key pathological feature in amyotrophic lateral sclerosis and related neurodegenerative diseases.
-
D.
SOD1
SOD1 is a gene encoding the antioxidant enzyme superoxide dismutase 1, whose mutations are a major known cause of familial amyotrophic lateral sclerosis (ALS).
-
E.
SMN2
SMN2 is a human gene that produces a backup form of survival motor neuron protein and is a key therapeutic target in spinal muscular atrophy.
- 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: APOE gene Target entity description: The APOE gene encodes apolipoprotein E, a key protein in lipid metabolism whose variants, especially ε4, strongly influence risk for Alzheimer’s disease and cardiovascular disorders.
-
A.
APOE ε4 allele
The APOE ε4 allele is a genetic variant of the apolipoprotein E gene that significantly increases an individual's susceptibility to late-onset Alzheimer's disease.
-
B.
C9orf72
C9orf72 is a human gene whose hexanucleotide repeat expansions are the most common known genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
-
C.
TARDBP
TARDBP is a gene encoding the TDP-43 protein, a DNA/RNA-binding protein whose abnormal aggregation is a key pathological feature in amyotrophic lateral sclerosis and related neurodegenerative diseases.
-
D.
SOD1
SOD1 is a gene encoding the antioxidant enzyme superoxide dismutase 1, whose mutations are a major known cause of familial amyotrophic lateral sclerosis (ALS).
-
E.
SMN2
SMN2 is a human gene that produces a backup form of survival motor neuron protein and is a key therapeutic target in spinal muscular atrophy.
- F. None of above. chosen
Statements (54)
| Predicate | Object |
|---|---|
| instanceOf | protein-coding gene ⓘ |
| APOEε2AssociatedWith |
increased risk of type III hyperlipoproteinemia
ⓘ
reduced risk of Alzheimer’s disease ⓘ |
| APOEε4AssociatedWith |
earlier age of onset of Alzheimer’s disease
ⓘ
increased LDL cholesterol levels ⓘ increased amyloid-β deposition ⓘ increased cardiovascular risk ⓘ increased risk of Alzheimer’s disease ⓘ |
| associatedWithDisease |
Alzheimer’s disease
NERFINISHED
ⓘ
atherosclerosis ⓘ cardiovascular disease ⓘ cerebral amyloid angiopathy ⓘ coronary artery disease ⓘ hyperlipoproteinemia type III ⓘ late-onset Alzheimer’s disease ⓘ |
| biologicalProcess |
cholesterol homeostasis
ⓘ
lipid transport ⓘ lipoprotein metabolic process ⓘ |
| cellularComponent |
extracellular region
ⓘ
plasma lipoprotein particle ⓘ |
| chromosomalBand | 19q13.32 ⓘ |
| clinicalUse |
genetic marker in cardiovascular risk assessment
ⓘ
genetic risk marker for Alzheimer’s disease ⓘ |
| encodes | apolipoprotein E NERFINISHED ⓘ |
| encodesProtein | apolipoprotein E precursor NERFINISHED ⓘ |
| EnsemblID | ENSG00000130203 ⓘ |
| EntrezGeneID | 348 ⓘ |
| expressedInCellType |
astrocytes
ⓘ
microglia ⓘ |
| expressedInTissue |
brain
ⓘ
liver ⓘ |
| foundInSpecies | Homo sapiens NERFINISHED ⓘ |
| hasAlias |
AD2
ⓘ
APO-E NERFINISHED ⓘ APOE NERFINISHED ⓘ Apo-E gene NERFINISHED ⓘ Apolipoprotein E gene NERFINISHED ⓘ LDLCQ5 ⓘ |
| hasAllele |
APOE ε2
NERFINISHED
ⓘ
APOE ε3 NERFINISHED ⓘ APOE ε4 NERFINISHED ⓘ |
| HGNCID | HGNC:613 ⓘ |
| locatedOnChromosome | chromosome 19 ⓘ |
| molecularFunction |
cholesterol transporter activity
ⓘ
lipoprotein particle receptor binding ⓘ |
| mostCommonAllele | APOE ε3 NERFINISHED ⓘ |
| protectiveAlleleForDisease | APOE ε2 NERFINISHED ⓘ |
| proteinProductInteractsWith |
LDL receptor
NERFINISHED
ⓘ
LDL receptor–related protein 1 NERFINISHED ⓘ |
| proteinProductParticipatesIn |
clearance of chylomicron remnants
ⓘ
clearance of very-low-density lipoproteins ⓘ |
| regulationRole | influences neuronal repair and plasticity via lipid transport ⓘ |
| riskAlleleForDisease | APOE ε4 NERFINISHED ⓘ |
| UniProtProteinEncoded | P02649 ⓘ |
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: APOE gene Description of subject: The APOE gene encodes apolipoprotein E, a key protein in lipid metabolism whose variants, especially ε4, strongly influence risk for Alzheimer’s disease and cardiovascular disorders.
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.