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.