Triple
T1169534
| Position | Surface form | Disambiguated ID | Type / Status |
|---|---|---|---|
| Subject | ALS |
E24881
|
entity |
| Predicate | associatedWithGene |
P2830
|
FINISHED |
| Object |
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).
|
E133683
|
NE FINISHED |
How this triple was built (5 steps)
Every LLM step that produced this triple, in pipeline order — named-entity classification, the disambiguation choices (the exact options shown, with the pick highlighted), and the generated description. The batch + timestamp of each is in the Provenance table below.
NER
Named-entity recognition
gpt-5-mini
Instruction
Given a phrase, classify it is english named entity (e.g., persons, organizations, works of art) in Latin script, or not (e.g., literals, dates, URLs, verbose phrases). For disambiguation, the statement where the phrase occurs as object is also given. Please return a JSON object with `phrase` (string, the phrase being analyzed) and `is_ne` (boolean, indicating whether the phrase is a Named Entity).
Input
Phrase: C9orf72 | Statement: [ALS, associatedWithGene, C9orf72]
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: C9orf72 Context triple: [ALS, associatedWithGene, C9orf72]
-
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.
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.
Protogeneia
Protogeneia is a figure in Greek mythology, traditionally regarded as the daughter of Deucalion and Pyrrha and associated with the earliest generations of humankind after the great flood.
-
E.
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.
- F. None of above. chosen
- G. Unsure - the case is ambiguous/there is not enough information to decide.
NEDg
Description generation
gpt-5.1
Instruction
Generate a one-sentence description of the target entity. You are given a context triple in the form (subject, predicate, object), where the object is the target entity. # Instructions Use the triple to infer relevant information about the entity. Describe the entity based on what is most defining, well-known. Avoid repeating the information from the triple, unless really essential. # Response Format Return only the sentence: "Description: [one-sentence description of the target entity]"
Input
Entity: C9orf72 Triple: [ALS, associatedWithGene, C9orf72]
Generated description
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).
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: C9orf72 Target entity description: 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).
-
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.
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.
Protogeneia
Protogeneia is a figure in Greek mythology, traditionally regarded as the daughter of Deucalion and Pyrrha and associated with the earliest generations of humankind after the great flood.
-
E.
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.
- F. None of above. chosen
PD
Predicate disambiguation
gpt-5-mini-2025-08-07
Target predicate: associatedWithGene Context triple: [ALS, associatedWithGene, C9orf72]
-
A.
geneticInfluence
Indicates that one entity affects or contributes to the genetic traits, characteristics, or heredity of another entity.
-
B.
isAssociatedWith
chosen
Indicates that there exists a connection, relationship, or involvement between two entities without specifying its exact nature.
-
C.
notablyAssociatedWith
Indicates that one entity is prominently or distinctively connected with another in a way that is especially noteworthy or remarkable.
-
D.
relatedSpeciesOrVariant
Indicates that one species or biological variant is taxonomically or genetically related to another.
-
E.
associatedWithFlag
Indicates a relationship where an entity is linked or connected to a particular flag, such as a national, organizational, or symbolic banner.
- F. None of above.
Provenance (6 batches)
The batch behind each pipeline step, in order, with when it ran. Timestamps are batch-level — stages were processed in waves, so the object chain (NER → NED1 → NEDg → NED2) reads in order, but predicate / elicitation batches can sit in a different wave.
| Step | Stage | Batch ID | Status | When |
|---|---|---|---|---|
| creating | Elicitation | batch_69a494082a7c819095004f423f294a64 |
completed | March 1, 2026, 7:31 p.m. |
| NER | Named-entity recognition | batch_69a4bce821b481908bc278a3fa7973f4 |
completed | March 1, 2026, 10:25 p.m. |
| NED1 | Entity disambiguation (via context triple) | batch_69ac668562788190ac5f8d081a46b2ee |
completed | March 7, 2026, 5:55 p.m. |
| NEDg | Description generation | batch_69ac67a07f28819096fcd7b767e07a63 |
completed | March 7, 2026, 6 p.m. |
| NED2 | Entity disambiguation (via description) | batch_69ac6826ef4c81909fc077bfba22b16f |
completed | March 7, 2026, 6:02 p.m. |
| PD | Predicate disambiguation | batch_69a4bb5656948190b0b1d5446ad06005 |
completed | March 1, 2026, 10:19 p.m. |
Created at: March 1, 2026, 7:45 p.m.