Triple
T10609954
| Position | Surface form | Disambiguated ID | Type / Status |
|---|---|---|---|
| Subject | Dravet syndrome |
E275979
|
entity |
| Predicate | isAssociatedWithGene |
P78758
|
FINISHED |
| Object |
SCN1A
SCN1A is a human gene encoding a neuronal voltage-gated sodium channel alpha subunit whose mutations are a major cause of Dravet syndrome and other epilepsy disorders.
|
E874307
|
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: SCN1A | Statement: [Dravet syndrome, isAssociatedWithGene, SCN1A]
NED1
Entity disambiguation (via context triple)
gpt-5-mini-2025-08-07
Target entity: SCN1A Context triple: [Dravet syndrome, isAssociatedWithGene, SCN1A]
-
A.
SNMG2
SNMG2 is a multinational, high-readiness NATO naval task group that conducts maritime security, deterrence, and crisis-response operations primarily in the Mediterranean and surrounding waters.
-
B.
Dravet syndrome
Dravet syndrome is a rare, severe form of early-onset epilepsy characterized by prolonged, drug-resistant seizures and developmental delays, typically beginning in infancy.
-
C.
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.
-
D.
GNAS
GNAS is the abbreviation for the Georgian National Academy of Sciences, the leading scientific institution in Georgia that coordinates and promotes research across various disciplines.
-
E.
HTT gene
The HTT gene encodes the huntingtin protein, and mutations in this gene—particularly CAG trinucleotide repeat expansions—cause Huntington's disease, a progressive neurodegenerative disorder.
- 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: SCN1A Triple: [Dravet syndrome, isAssociatedWithGene, SCN1A]
Generated description
SCN1A is a human gene encoding a neuronal voltage-gated sodium channel alpha subunit whose mutations are a major cause of Dravet syndrome and other epilepsy disorders.
NED2
Entity disambiguation (via description)
gpt-5-mini-2025-08-07
Target entity: SCN1A Target entity description: SCN1A is a human gene encoding a neuronal voltage-gated sodium channel alpha subunit whose mutations are a major cause of Dravet syndrome and other epilepsy disorders.
-
A.
SNMG2
SNMG2 is a multinational, high-readiness NATO naval task group that conducts maritime security, deterrence, and crisis-response operations primarily in the Mediterranean and surrounding waters.
-
B.
Dravet syndrome
Dravet syndrome is a rare, severe form of early-onset epilepsy characterized by prolonged, drug-resistant seizures and developmental delays, typically beginning in infancy.
-
C.
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.
-
D.
GNAS
GNAS is the abbreviation for the Georgian National Academy of Sciences, the leading scientific institution in Georgia that coordinates and promotes research across various disciplines.
-
E.
HTT gene
The HTT gene encodes the huntingtin protein, and mutations in this gene—particularly CAG trinucleotide repeat expansions—cause Huntington's disease, a progressive neurodegenerative disorder.
- F. None of above. chosen
PD
Predicate disambiguation
gpt-5-mini-2025-08-07
Target predicate: isAssociatedWithGene Context triple: [Dravet syndrome, isAssociatedWithGene, SCN1A]
-
A.
targetsGene
Indicates that one entity is directed toward, acts upon, or is intended to affect a specific gene.
-
B.
encodedByGene
Indicates that a particular gene is responsible for producing or specifying the sequence of a given molecule (such as a protein or RNA).
-
C.
hasPharmacogenomicAssociation
Indicates that there is a documented relationship between a genetic variant and a drug’s response, efficacy, or toxicity.
-
D.
hasGeneticLocus
chosen
Indicates that a genetic feature or trait is located at, or associated with, a specific position (locus) on a genome or chromosome.
-
E.
geneSymbol
Indicates the standardized short-form symbol assigned to a specific gene.
- 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_69d6aaf948d88190806cc3a8c47a3fb2 |
completed | April 8, 2026, 7:22 p.m. |
| NER | Named-entity recognition | batch_69d6df59468881909b0c67d3f08c4b76 |
completed | April 8, 2026, 11:06 p.m. |
| NED1 | Entity disambiguation (via context triple) | batch_69d95ebe539881908aeff1cd65cf925f |
completed | April 10, 2026, 8:34 p.m. |
| NEDg | Description generation | batch_69d95f81955c8190b629d57a034a4b76 |
completed | April 10, 2026, 8:37 p.m. |
| NED2 | Entity disambiguation (via description) | batch_69d961047a78819088094e02c0b99f60 |
completed | April 10, 2026, 8:43 p.m. |
| PD | Predicate disambiguation | batch_69d6dd7a223c8190854409d76368f3e8 |
completed | April 8, 2026, 10:58 p.m. |
Created at: April 8, 2026, 7:32 p.m.