APOE ε4 allele
E115305
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.
All labels observed (2)
| Label | Occurrences |
|---|---|
| APOE ε4 allele canonical | 2 |
| apolipoprotein E4 isoform | 1 |
How this entity was disambiguated
This entity first appeared as the object of triple T972811 — 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 ε4 allele Context triple: [Alzheimer's disease, riskFactor, APOE ε4 allele]
-
A.
Alzheimer's disease
Alzheimer's disease is a progressive neurodegenerative disorder characterized by memory loss, cognitive decline, and behavioral changes, and is the most common cause of dementia in older adults.
-
B.
Multi-Ethnic Study of Atherosclerosis
The Multi-Ethnic Study of Atherosclerosis is a long-term, population-based medical research study that investigates the prevalence, progression, and risk factors of cardiovascular disease across diverse ethnic groups in the United States.
-
C.
MCI-Shirley
MCI-Shirley is a medium- and minimum-security state prison for men located in Shirley, Massachusetts.
-
D.
Aduhelm
Aduhelm is an Alzheimer’s disease drug developed by Biogen that targets amyloid-beta plaques in the brain.
-
E.
EPI
EPI is a global public health initiative led by the World Health Organization that aims to ensure universal access to routine, life-saving vaccinations, particularly for children.
- 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 ε4 allele Target entity description: 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.
-
A.
Alzheimer's disease
Alzheimer's disease is a progressive neurodegenerative disorder characterized by memory loss, cognitive decline, and behavioral changes, and is the most common cause of dementia in older adults.
-
B.
Multi-Ethnic Study of Atherosclerosis
The Multi-Ethnic Study of Atherosclerosis is a long-term, population-based medical research study that investigates the prevalence, progression, and risk factors of cardiovascular disease across diverse ethnic groups in the United States.
-
C.
MCI-Shirley
MCI-Shirley is a medium- and minimum-security state prison for men located in Shirley, Massachusetts.
-
D.
Aduhelm
Aduhelm is an Alzheimer’s disease drug developed by Biogen that targets amyloid-beta plaques in the brain.
-
E.
EPI
EPI is a global public health initiative led by the World Health Organization that aims to ensure universal access to routine, life-saving vaccinations, particularly for children.
- F. None of above. chosen
Statements (51)
| Predicate | Object |
|---|---|
| instanceOf |
allele
ⓘ
genetic variant ⓘ risk factor ⓘ |
| associatedWith |
atherosclerosis
ⓘ
cerebral amyloid angiopathy ⓘ cognitive decline ⓘ coronary artery disease ⓘ earlier age of onset of Alzheimer’s disease ⓘ hippocampal atrophy ⓘ increased amyloid-β deposition ⓘ increased low-density lipoprotein cholesterol ⓘ increased risk of Alzheimer’s disease ⓘ increased risk of cerebral microbleeds ⓘ increased risk of dementia with Lewy bodies ⓘ increased risk of intracerebral hemorrhage ⓘ increased risk of ischemic stroke ⓘ increased total cholesterol ⓘ late-onset Alzheimer’s disease ⓘ mild cognitive impairment ⓘ poorer memory performance in aging ⓘ poorer outcome after subarachnoid hemorrhage ⓘ poorer outcome after traumatic brain injury ⓘ sporadic Alzheimer’s disease ⓘ |
| definedBy | specific SNP combination at rs429358 and rs7412 ⓘ |
| differsFrom |
APOE ε2 allele
ⓘ
APOE ε3 allele ⓘ |
| encodes |
APOE ε4 allele
self-linksurface differs
ⓘ
surface form:
apolipoprotein E4 isoform
|
| hasAminoAcidChange | arginine at positions 112 and 158 of apolipoprotein E ⓘ |
| hasEffect |
increases risk of late-onset Alzheimer’s disease in a dose-dependent manner
ⓘ
lowers average age at onset of Alzheimer’s disease ⓘ one copy increases Alzheimer’s disease risk compared to non-carriers ⓘ two copies greatly increase Alzheimer’s disease risk compared to non-carriers ⓘ |
| hasFrequency | varies by population ⓘ |
| hasHigherFrequencyIn | people of Northern European ancestry ⓘ |
| hasInheritancePattern |
autosomal
ⓘ
codominant ⓘ |
| hasLowerFrequencyIn |
East Asia
ⓘ
surface form:
East Asian populations
some African populations ⓘ |
| hasRiskMagnitude | moderate to high for late-onset Alzheimer’s disease ⓘ |
| influences |
amyloid-β aggregation
ⓘ
amyloid-β clearance ⓘ lipid transport in the brain ⓘ neuroinflammation ⓘ synaptic function ⓘ tau pathology progression ⓘ |
| isDetectedBy | genetic testing ⓘ |
| locatedIn | APOE gene locus 19q13.32 ⓘ |
| locatedOn | chromosome 19 ⓘ |
| modifies | response to Alzheimer’s disease pathology ⓘ |
| partOf | APOE gene ⓘ |
| usedIn | Alzheimer’s disease risk stratification in research settings ⓘ |
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 ε4 allele Description of subject: 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.
Referenced by (3)
Full triples — surface form annotated when it differs from this entity's canonical label.
this entity surface form:
apolipoprotein E4 isoform
ARIA-H (amyloid-related imaging abnormalities with microhemorrhages and hemosiderin deposits)
→
riskFactor
→
APOE ε4 allele
ⓘ
subject surface form:
ARIA-H