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| license: cc-by-4.0 | |
| language: | |
| - en | |
| pretty_name: Vitiligo Knowledge Graph | |
| tags: | |
| - biomedical | |
| - knowledge-graph | |
| - vitiligo | |
| - relation-extraction | |
| - clinical-trials | |
| size_categories: | |
| - 10K<n<100K | |
| configs: | |
| - config_name: relations | |
| data_files: relations.jsonl | |
| default: true | |
| - config_name: entities | |
| data_files: entities.jsonl | |
| - config_name: evidence | |
| data_files: evidence.jsonl | |
| - config_name: ictrp_relations | |
| data_files: ictrp/relations.jsonl | |
| - config_name: ictrp_entities | |
| data_files: ictrp/entities.jsonl | |
| - config_name: ictrp_evidence | |
| data_files: ictrp/evidence.jsonl | |
| # Vitiligo Knowledge Graph | |
| A knowledge graph of vitiligo research from the | |
| [Vitiligo Initiative](https://github.com/recepsirin/vitiligo-initiative), an | |
| open, non-profit research platform. It links the drugs, genes, diseases, | |
| biomarkers, interventions and clinical trials of the vitiligo literature, and | |
| every relation carries the evidence it rests on: the paper, trial record or | |
| database entry, and where licensing allows, the sentence itself. | |
| | | Count | | |
| |---|---| | |
| | Entities | 17,167 | | |
| | Relations | 93,605 | | |
| | Measured relations | 61,204 | | |
| | Evidence rows | 224,273 | | |
| | Quoted sentences | 85,541 | | |
| A further 2,466 relations resting only on WHO ICTRP records are published | |
| separately under WHO's terms (see [Licensing](#licensing)), bringing the total | |
| to 96,071 relations. | |
| Snapshot of 9 November 2026. Research data, not medical advice. | |
| ## Contents | |
| **Entities** (`entities`): 6,899 diseases and adverse events (an adverse | |
| event is the node of the disease or finding it names, so "herpes zoster" in | |
| a trial's safety table and in a paper is one node), 4,348 targets (genes and | |
| proteins), 1,577 trials, 1,386 drugs, 1,201 interventions (procedures, | |
| phototherapy and combination regimens), 912 biomarkers, 807 biological pathways | |
| (WikiPathways CC0, Gene Ontology CC-BY-4.0, and Reactome), 23 outcomes, 10 | |
| cutaneous cell types, and related mechanisms and phenotypes. | |
| **Relations** (`relations`): changes 28,592 · associated_with 21,794 · | |
| participates_in 21,086 · co_expressed_with 8,367 · treats 2,807 · tested_in 2,735 · | |
| inhibits 2,599 · causes 1,899 · investigates 1,577 · activates 1,139 · | |
| expressed_in 841 · targets 104 · combined_with 61 · occurs_in 4. | |
| **Evidence** (`evidence`): one row per source of a relation. Incorporates | |
| full-text extraction across 2,712 PMC papers with BioRED BiomedBERT, | |
| direct human vitiligo skin punch biopsy co-expression measurements (GSE311770, N=105), | |
| human skin single-cell RNA-seq lineage expression measurements (GSE298871, 17,057 single cells across 17 biopsies), | |
| WikiPathways (CC0) and experimental Gene Ontology Biological Process (CC-BY-4.0) pathway hierarchies, | |
| and ChEMBL / DrugCentral human drug-target bioactivities ($p\text{Act} \ge 6.5$). | |
| A relation stated by several papers or measurements has several rows. | |
| ## Schema | |
| `entities` | |
| | Column | Description | | |
| |---|---| | |
| | `id` | Entity id, referenced by `relations` | | |
| | `kind` | target, drug, disease, trial, biomarker, intervention, ... | | |
| | `key`, `name` | Normalised key and display name | | |
| | `aliases` | Other names | | |
| | `external_ids` | Identifiers in source databases (registry ids, Open Targets, EFO, ...) | | |
| `relations` | |
| | Column | Description | | |
| |---|---| | |
| | `id` | Relation id, referenced by `evidence` | | |
| | `subject_id`, `predicate`, `object_id` | The relation | | |
| | `confidence` | 0-1; registries and curated records rank above text mining | | |
| | `claim` | `asserted` (a source states it) or `observed` (measured; 30,174 relations) | | |
| | `causal_level` | For observed relations, the rung on the causal ladder | | |
| | `extraction_method` | How it was obtained (see [Sources](#sources)) | | |
| | `evidence_count` | Evidence rows for this relation in this release | | |
| `evidence` | |
| | Column | Description | | |
| |---|---| | |
| | `relation_id` | The relation it supports | | |
| | `source` | Where it comes from: `pmid:…`, `ctgov:NCT…`, `opentargets:…`, `reporter:…`, ... | | |
| | `source_kind` | posted_result, relation_extractor, pubtator3, curated_result, expression, trial, prior, gwas, trial_result, mechanism | | |
| | `relation_label` | The text-mining label (BioRED types: Association, Positive_Correlation, ...) | | |
| | `score` | The text miner's score, where there is one | | |
| | `section` | The paper section a sentence came from | | |
| | `text`, `text_licence` | The sentence, where its licence allows; otherwise null | | |
| | `details` | Source-specific fields as JSON (a trial result's numbers, a gene's fold change and FDR, GWAS p-value and cohort, trial phase, ...) | | |
| ## Sources | |
| | Method | Relations | How it was made | Measured accuracy | | |
| |---|---|---|---| | |
| | `posted_result` | 27,083 | Results 752 trials posted to ClinicalTrials.gov: adverse events from trials of the same drugs in any disease, outcomes and comparisons from vitiligo trials. Each results group is read as the regimen it received, a drug known by any name MeSH gives it (AIN457 is secukinumab, Stelara ustekinumab); a group switched from placebo to drug, set side by side with another, or pooled is left out | Numbers as posted: 300 of 300 sampled rows match the registry. Groups: 59 of 63 sampled read right | | |
| | `relation_extractor` | 14,776 | Full-text bodies and other text read by the [Vitiligo Relation Extractor](https://huggingface.co/re-cep/vitiligo-relation-extractor), with a loading rule (probability ≥ 0.8, no tables or figures, no co-administration, "treats" only for vitiligo) | 45 of 60 correct (75%); 15 of 17 where vitiligo is one end | | |
| | `pubtator3` | 9,223 | PubTator 3.0's relations from PubMed abstracts, checked against MeSH | Of hand-checked samples: 30 of 34 "treats vitiligo", 31 of 34 "gene associated with vitiligo" | | |
| | `structured` | 5,640 | Trial registries (ClinicalTrials.gov, EU CTR, ISRCTN), Open Targets, and curated trial arms | Database statements | | |
| | `curated_result` | 1,488 | Results read by hand from the papers of 839 trials: responder rates, scores, p-values and adverse events, each with its arm and the section it was read from | Curated; every value cites its place in the paper | | |
| | `expression` | 1,247 | Genes lesional skin expresses differently in three GEO cohorts (GSE65127, GSE75819, GSE311770; a fourth, GSE53146, tested and not used), against the same patients' unaffected skin or healthy donors: limma's moderated t, pairs as pairs, FDR < 5% and a twofold change. A comparison is used only if it sees the melanocytes' pigment genes lower. 1,484 genes in all, 1,247 not otherwise linked to vitiligo | Measured; 73 genes agree across two or more cohorts and rank above those seen once | | |
| | `gwas` | 50 | GWAS Catalog associations, with p-value and cohort | Measured | | |
| | `trial_result` | 21 | Posted trial responder rates | Measured | | |
| | `mechanism_record` | 12 | Curated mechanism hypotheses with their causal rung | Curated | | |
| Trials are the 2,262 vitiligo trials of the corpus: 1,577 here, and the trials | |
| registered only with WHO ICTRP in the `ictrp_*` configurations. Trials known | |
| only from their papers take their interventions from curated trial arms. | |
| Placebo and vehicle arms are recorded as tested, never as treatments. | |
| A `changes` relation joins a regimen to what was measured in the people | |
| given it: what an arm received (a combination such as "NB-UVB + tacrolimus" | |
| is a regimen of its own) and either an outcome family (repigmentation, | |
| relapse, quality of life, ...) or an adverse event. Each evidence row is one | |
| value, with its numbers in `details`, and beside them what the trial's | |
| control group showed: an adverse event row reads "5 of 100 on the drug" | |
| next to "1 of 50 on vehicle". Values pooled across arms name no regimen and | |
| are left out; a placebo or untreated arm appears only as what a regimen was | |
| compared with. Outcomes are taken only from vitiligo trials; adverse events | |
| from trials of the same drugs in any disease. | |
| ## Licensing | |
| - **This release (CC BY 4.0).** Relations and pointers are released under | |
| CC BY 4.0. Quoted sentences are included only where their source permits | |
| it: 23,191 from open-access papers licensed CC BY or CC0, 588 from NIH | |
| RePORTER and 214 from ClinicalTrials.gov, whose posted results are | |
| likewise public records of the US government. Every other sentence is given as | |
| a pointer to its paper and section; its text is the publisher's or | |
| author's under the paper's own licence. | |
| - **`ictrp_*` (WHO ICTRP terms).** Relations and evidence resting on records | |
| of WHO's International Clinical Trials Registry Platform, which permits | |
| reuse with attribution but not for commercial purposes. Credit WHO ICTRP | |
| as the source when using them. | |
| - **Excluded.** Eight evidence entries derived from DrugBank, whose terms do | |
| not allow redistribution. | |
| - Article licences were taken from Europe PMC. BioRED and PubTator 3.0 are | |
| NCBI resources; Open Targets is CC0; GWAS Catalog data are mostly CC0. | |
| Expression results are this project's analysis of GEO series, which NCBI | |
| makes available without restriction. | |
| ## Limitations | |
| - Half the relations are **measurements** (30,174): results trials posted | |
| or printed, and genes expressed differently in lesional skin. The rest are | |
| **assertions**: a source states them. | |
| - A gene expressed differently in lesional skin is an **association**, not a | |
| cause: most of the strongest are the genes of the melanocytes the lesion | |
| has lost. | |
| - A `changes` relation says a regimen was measured against an outcome, not | |
| that it worked, and an adverse event under a drug is what was recorded in | |
| the people taking it, not proof the drug caused it: read the numbers | |
| beside the control group's in its evidence. | |
| - About a quarter of the text-mined relations from full texts are wrong. | |
| Check a relation against its evidence before relying on it. | |
| - `associated_with` is the most common and least specific relation: it says | |
| two things are linked, not how. | |
| - A relation's absence means no source in the corpus stated it, not that it | |
| is false. | |
| ## Usage | |
| ```python | |
| from datasets import load_dataset | |
| relations = load_dataset("re-cep/vitiligo-knowledge-graph", "relations", split="train") | |
| entities = load_dataset("re-cep/vitiligo-knowledge-graph", "entities", split="train") | |
| evidence = load_dataset("re-cep/vitiligo-knowledge-graph", "evidence", split="train") | |
| ``` | |
| The release is rebuilt with `vitiligo graph release` from the | |
| [project repository](https://github.com/recepsirin/vitiligo-initiative). | |
| ## Citation | |
| If you use this dataset, cite the Vitiligo Initiative and the sources it | |
| builds on: PubTator 3.0 (Wei et al., *Nucleic Acids Research* 2024), BioRED | |
| (Luo et al., *Briefings in Bioinformatics* 2022), Open Targets, the GWAS | |
| Catalog, WHO ICTRP, ClinicalTrials.gov, and the GEO series GSE65127, | |
| GSE75819 and GSE311770. | |