"API version information" type APIVersion { "Patch version number" z: String! "Optional version suffix (e.g., alpha, beta, rc)" suffix: String "Minor version number" y: String! "Major version number" x: String! } "Significant adverse events associated with drugs sharing the same pharmacological target. This dataset is based on the FDA's Adverse Event Reporting System (FAERS) reporting post-marketing surveillance data and it's filtered to include only reports submitted by health professionals. The significance of a given target-ADR is estimated using a Likelihood Ratio Test (LRT) using all reports associated with the drugs with the same target." type AdverseEvent { "8 digit unique meddra identification number" meddraCode: String "Log-likelihood ratio" logLR: Float! "Number of reports mentioning drug and adverse event" count: Long! "Meddra term on adverse event" name: String! } "Significant adverse events associated with drugs sharing the same pharmacological target. This dataset is based on the FDA's Adverse Event Reporting System (FAERS) reporting post-marketing surveillance data and it's filtered to include only reports submitted by health professionals. The significance of a given target-ADR is estimated using a Likelihood Ratio Test (LRT) using all reports associated with the drugs with the same target." type AdverseEvents { "LLR critical value to define significance" criticalValue: Float! "Total significant adverse events" count: Long! "Significant adverse event entries" rows: [AdverseEvent!]! } "Allele frequency of the variant in different populations" type AlleleFrequency { "Frequency of the allele in the population (ranging from 0 to 1)" alleleFrequency: Float "Name of the population where the allele frequency was measured" populationName: String } "Associated disease entity" type AssociatedDisease { "Overall association score aggregated across all evidence types. A higher score indicates a stronger association between the target and the disease. Scores are normalized to a range of 0-1." score: Float! "Association scores computed for every datasource (e.g., IMPC, ChEMBL, Gene2Phenotype)" datasourceScores: [ScoredComponent!]! "Association scores computed for every datatype (e.g., Genetic associations, Somatic, Literature)" datatypeScores: [ScoredComponent!]! "Associated disease entity" disease: Disease! } "Target-disease associations computed on-the-fly using configurable datasource weights and evidence filters. Returns associations with aggregated scores and evidence counts supporting the target-disease relationship." type AssociatedDiseases { "Total number of target-disease associations matching the query filters" count: Long! "List of datasource settings with weights and propagation rules used to compute the associations" datasources: [DatasourceSettings!]! "List of associated diseases with their association scores and evidence breakdowns" rows: [AssociatedDisease!]! } "Associated target entity" type AssociatedTarget { "Overall association score aggregated across all evidence types. A higher score indicates a stronger association between the target and the disease. Scores are normalized to a range of 0-1." score: Float! "Association scores computed for every datasource (e.g., IMPC, ChEMBL, Gene2Phenotype)" datasourceScores: [ScoredComponent!]! "Association scores computed for every datatype (e.g., Genetic associations, Somatic, Literature)" datatypeScores: [ScoredComponent!]! "Associated target entity" target: Target! } "Target-disease associations computed on-the-fly using configurable datasource weights and evidence filters. Returns associations with aggregated scores and evidence counts supporting the target-disease relationship." type AssociatedTargets { "Total number of target-disease associations matching the query filters" count: Long! "List of datasource settings with weights and propagation rules used to compute the associations" datasources: [DatasourceSettings!]! "List of associated targets with their association scores and evidence breakdowns" rows: [AssociatedTarget!]! } "Container for all biological model-related attributes" type BiologicalModels { "References related to the mouse model [bioregistry:pubmed]" literature: [String!] "The specific allelic composition of the mouse model" allelicComposition: String! "The genetic background strain of the mouse model" geneticBackground: String! "Unique identifier for the biological model [bioregistry:mgi]" id: String } "List of gene expression altering biomarkers" type BiomarkerGeneExpression { "Raw gene expression annotation from the source" name: String "Gene Ontology (GO) identifiers of regulation or background expression processes [bioregistry:go]" id: GeneOntologyTerm } "Integration of biosample metadata about tissues or cell types derived from multiple ontologies including EFO, UBERON, CL, GO and others." type Biosample { "Direct child biosample IDs in the ontology" children: [String!] "Cross-reference IDs from other ontologies" xrefs: [String!] "Description of the biosample" description: String "List of ancestor biosample IDs in the ontology" ancestors: [String!] "Unique identifier for the biosample" biosampleId: String! "List of synonymous names for the term" synonyms: [String!] "Name of the biosample" biosampleName: String! "Direct parent biosample IDs in the ontology" parents: [String!] "List of descendant biosample IDs in the ontology" descendants: [String!] } "Cancer hallmarks associated with the target gene" type CancerHallmark { "Label associated with the cancer hallmark" label: String! "Description of the cancer hallmark" description: String! "Impact of the cancer hallmark on the target" impact: String "PubMed ID of the supporting literature for the cancer hallmark [bioregistry:pubmed]" pmid: Long! } "The Ensembl canonical transcript of the target gene" type CanonicalTranscript { "Genomic start position of the canonical transcript" start: Long! "Chromosome location of the canonical transcript" chromosome: String! "Genomic end position of the canonical transcript" end: Long! "Strand orientation of the canonical transcript" strand: String! "The Ensembl transcript identifier for the canonical transcript" id: String! } "Cell type where protein levels were measured" type CellType { "Reliability of the cell type measurement" reliability: Boolean! "Level of expression for this cell type" level: Int! "Cell type name" name: String! } "Chemical probes related to the target. High-quality chemical probes are small molecules that can be used to modulate and study the function of proteins." type ChemicalProbe { "Score from ProbeMiner for chemical probe quality" probeMinerScore: Float "URLs linking to more information about the chemical probe" urls: [ChemicalProbeUrl!]! "Score indicating chemical probe activity in cells" scoreInCells: Float "Origin of the chemical probe" origin: [String!] "Indicates if the chemical probe is high quality" isHighQuality: Boolean! "Whether the chemical probe serves as a control" control: String "Score indicating chemical probe activity in organisms" scoreInOrganisms: Float "Drug ID associated with the chemical probe" drugId: String "Mechanism of action of the chemical probe" mechanismOfAction: [String!] "Ensembl gene ID of the target for the chemical probe" targetFromSourceId: String! "Unique identifier for the chemical probe" id: String! "Score for chemical probes related to druggability" probesDrugsScore: Float } "URL information for chemical probe resources" type ChemicalProbeUrl { "Nice name for the linked URL" niceName: String! "URL providing details about the chemical probe" url: String } "GWAS-GWAS and GWAS-molQTL credible set colocalisation results. Dataset includes colocalising pairs as well as the method and statistics used to estimate the colocalisation." type Colocalisation { "Average sign of the beta ratio between colocalised variants" betaRatioSignAverage: Float "Chromosome where the colocalisation occurs" chromosome: String! leftStudyLocusId: String! "Type of the right-side study (e.g., gwas, eqtl, pqtl)" rightStudyType: String! "Method used to estimate colocalisation (e.g., coloc, eCAVIAR)" colocalisationMethod: String! "Colocalisation posterior probability (CLPP) score estimating the probability of shared causal variants. Used in eCAVIAR method." clpp: Float "Posterior probability that both traits are associated and share a causal variant (H4). Used in coloc method." h4: Float rightStudyLocusId: String! "Number of variants intersecting between two overlapping study-loci" numberColocalisingVariants: Long! "Posterior probability that both traits are associated, but with different causal variants (H3). Used in coloc method." h3: Float "The other credible set (study-locus) in the colocalisation pair" otherStudyLocus: CredibleSet } "GWAS-GWAS and GWAS-molQTL credible set colocalisation results. Dataset includes colocalising pairs as well as the method and statistics used to estimate the colocalisation." type Colocalisations { "Total number of colocalisation results matching the query filters" count: Long! "List of colocalisation results between study-loci pairs" rows: [Colocalisation!]! } "Constraint scores for the target gene from GnomAD. Indicates gene intolerance to loss-of-function mutations." type Constraint { "Observed constraint score" obs: Long "Type of constraint applied to the target" constraintType: String! "Interpretable classification of constraint based on 6 bins. [GnomAD labels: 0: `very high`, 1: `high`, 2: `medium`, 3: `low`, 4: `very low`, 5: `very low`]" upperBin6: Long "Constraint score indicating gene intolerance" score: Float "Upper rank classification for every coding gene assessed by GnomAD going from more constrained to less constrained" upperRank: Long "Lower bound of the OE constraint score" oeLower: Float "Upper bound of the OE constraint score" oeUpper: Float "Expected constraint score" exp: Float "Upper bin classification going from more constrained to less constrained" upperBin: Long "Observed/Expected (OE) constraint score" oe: Float } "95% credible sets for GWAS and molQTL studies. Credible sets include all variants in the credible set (locus) as well as the fine-mapping method and derived statistics." type CredibleSet { "Log10 Bayes factor for the entire credible set" credibleSetlog10BF: Float "Ensembl identifier of the gene representing a specific gene whose molecular is being analysed in molQTL study" qtlGeneId: String "Position of the lead variant for the credible set (GRCh38)" position: Int "Identifier of the credible set (StudyLocus)" studyLocusId: String! "Boolean for whether this credible set is a trans-pQTL or not" isTransQtl: Boolean "Start position of the region that was fine-mapped for this credible set" locusStart: Int "Mean R-squared linkage disequilibrium for variants in the credible set" purityMeanR2: Float "[Deprecated]" subStudyDescription: String "Allele frequency of the lead variant from the GWAS" effectAlleleFrequencyFromSource: Float "Description of how this credible set was derived in terms of data and fine-mapping method" confidence: String "End position of the region that was fine-mapped for this credible set" locusEnd: Int "Z-score of the lead variant from the GWAS" zScore: Float "Mantissa value of the lead variant P-value" pValueMantissa: Float "Minimum R-squared linkage disequilibrium for variants in the credible set" purityMinR2: Float "Array of structs which denote the variants in LD with the credible set lead variant" ldSet: [LdSet!] "Start and end positions of the region used for fine-mapping" region: String "Integer label for the order of credible sets from study-region" credibleSetIndex: Int "Quality control flags for this credible set" qualityControls: [String!] "Identifier of the GWAS or molQTL study in which the credible set was identified" studyId: String "Exponent value of the lead variant P-value" pValueExponent: Int "Method used for fine-mapping of credible set" finemappingMethod: String "Sample size of the study which this credible set is derived" sampleSize: Int "Chromosome which the credible set is located" chromosome: String "Standard error of the lead variant" standardError: Float "Beta coefficient of the lead variant" beta: Float "The lead variant for the credible set, by posterior probability." variant: Variant "Descriptor for whether the credible set is derived from GWAS or molecular QTL." studyType: StudyTypeEnum "Predictions from Locus2gene gene assignment model." l2GPredictions( "Pagination settings with index and size" page: Pagination): L2GPredictions! "Locus information for all variants in the credible set" locus( "List of variant IDs in CHROM_POS_REF_ALT format" variantIds: [String!], "Pagination settings with index and size" page: Pagination): Loci! "GWAS-GWAS and GWAS-molQTL credible set colocalisation results. Dataset includes colocalising pairs as well as the method and statistics used to estimate the colocalisation." colocalisation( "Study types" studyTypes: [StudyTypeEnum!], "Pagination settings with index and size" page: Pagination): Colocalisations! "GWAS or molQTL study in which the credible set was identified" study: Study } "95% credible sets for GWAS and molQTL studies. Credible sets include all variants in the credible set as well as the fine-mapping method and statistics used to estimate the credible set." type CredibleSets { "Total number of credible sets matching the query filters" count: Long! "List of credible set entries with their associated statistics and fine-mapping information" rows: [CredibleSet!]! } "Data release version information" type DataVersion { "Month of the Platform data release" month: String! "Iteration number of the Platform data release within the year-month period" iteration: String "Year of the Platform data release" year: String! } "Data source information for protein coding coordinates" type Datasource { "Identifier of the data source" datasourceId: String! "Human-readable name of the data source" datasourceNiceName: String! "Count of evidence from this data source" datasourceCount: Int! } "Datasource settings configuration used to compute target-disease associations. Allows customization of weights, ontology propagation, and required evidence for each datasource when calculating association scores. Weights must be between 0 and 1, and can control ontology propagation and evidence requirements." type DatasourceSettings { "Whether evidence from this datasource is required to compute association scores" required: Boolean! "Weight assigned to the datasource when computing association scores" weight: Float! "Whether evidence from this datasource is propagated through the ontology" propagate: Boolean! "Datasource identifier" id: String! } "Input type for datasource settings configuration. Allows customization of how individual datasources contribute to target-disease association score calculations. Weights must be between 0 and 1, and can control ontology propagation and evidence requirements." input DatasourceSettingsInput { "Datasource identifier" id: String! "Weight assigned to the datasource. Should be between 0 and 1" weight: Float! "Whether evidence from this datasource is propagated through the ontology" propagate: Boolean! "Whether evidence from this datasource is required to compute association scores" required: Boolean = false } "Cross-reference information for a variant in different databases" type DbXref { "Name of the database the variant is referenced in" source: String "Identifier of the variant in the given database" id: String } "Essentiality measurements extracted from DepMap, stratified by tissue or anatomical units. Gene effects below -1 can be considered dependencies." type DepMapEssentiality { "Name of the tissue from where the cells were sampled for assay" tissueName: String "Identifier of the tissue from where the cells were sampled for assay [bioregistry:uberon]" tissueId: String "List of CRISPR screening experiments supporting the essentiality assessment" screens: [GeneEssentialityScreen!]! } "Core annotation for diseases or phenotypes. A disease or phenotype in the Platform is understood as any disease, phenotype, biological process or measurement that might have any type of causality relationship with a human target. The EMBL-EBI Experimental Factor Ontology (EFO) (slim version) is used as scaffold for the disease or phenotype entity." type Disease { "EFO terms for direct anatomical locations" directLocationIds: [String!] "Cross-references to external disease ontologies" dbXRefs: [String!] "Short description of the disease or phenotype" description: String "Ancestor disease nodes in the EFO ontology up to the top-level therapeutic area" ancestors: [String!]! "EFO terms for indirect anatomical locations (propagated)" indirectLocationIds: [String!] "Synonymous disease or phenotype labels" synonyms: [DiseaseSynonyms!] "Open Targets disease identifier [bioregistry:efo]" id: String! "Descendant disease nodes in the EFO ontology below this term" descendants: [String!]! "Obsoleted ontology terms replaced by this term" obsoleteTerms: [String!] "Preferred disease or phenotype label" name: String! "Ancestor therapeutic area nodes the disease or phenotype term belongs in the EFO ontology" therapeuticAreas: [Disease!]! "Immediate parent disease nodes in the ontology" parents: [Disease!]! "Direct child disease nodes in the ontology" children: [Disease!]! "Diseases mapped to direct anatomical locations" directLocations: [Disease!]! "Diseases mapped via indirect (propagated) anatomical locations" indirectLocations: [Disease!]! "Semantically similar diseases based on a PubMed word embedding model" similarEntities( "List of IDs (EFO disease IDs, Ensembl gene IDs, or ChEMBL molecule IDs)" additionalIds: [String!], "List of entity names to search for (target, disease, drug,...)" entityNames: [String!], "Threshold similarity between 0 and 1" threshold: Float, "Number of items per page [Default: 25, Max: 3000]" size: Int): [Similarity!]! "Publications that mention this disease, alone or alongside other entities" literatureOcurrences( "List of IDs (EFO disease IDs, Ensembl gene IDs, or ChEMBL molecule IDs)" additionalIds: [String!], "Year at the lower end of the filter" startYear: Int, "Month at the lower end of the filter. This value will be ignored if startYear is not set" startMonth: Int, "Year at the higher end of the filter" endYear: Int, "Month at the higher end of the filter. This value will be ignored if endYear is not set" endMonth: Int, "Opaque cursor for pagination" cursor: String): Publications! "Whether this disease node is a top-level therapeutic area" isTherapeuticArea: Boolean! "Human Phenotype Ontology (HPO) annotations linked to this disease as clinical signs or symptoms" phenotypes( "Pagination settings with index and size" page: Pagination): DiseaseHPOs "Target\u2013disease evidence items supporting associations for this disease" evidences( "List of Ensembl IDs" ensemblIds: [String!]!, "Use the disease ontology to retrieve all its descendants and capture their associated evidence." enableIndirect: Boolean, "List of datasource ids" datasourceIds: [String!], "Number of items per page [Default: 25, Max: 3000]" size: Int, "Opaque cursor for pagination" cursor: String): Evidences! "Open Targets (OTAR) projects linked to this disease. Data only available in Partner Platform Preview (PPP)" otarProjects: [OtarProject!]! "Investigational or approved drugs indicated for this disease with curated mechanisms of action" knownDrugs( "Free-text search query string" freeTextQuery: String, "Number of items per page [Default: 25, Max: 3000]" size: Int, "Opaque cursor for pagination" cursor: String): KnownDrugs "Target\u2013disease associations computed on the fly with configurable datasource weights and filters" associatedTargets( "List of disease or target IDs" Bs: [String!], "Use the disease ontology to retrieve all its descendants and capture their associated evidence." enableIndirect: Boolean, "List of datasource settings" datasources: [DatasourceSettingsInput!], "List of the facet IDs to filter by (using AND)" facetFilters: [String!], "Filter to apply to the ids with string prefixes" BFilter: String, "Ordering for the associations. Accepts a string with two words separated by a space. The first word is the column to sort by: either `score` to use the overall association score (default), a datasource id (e.g., `impc`), or a datatype id (e.g., `animal_model`). The second word is the order: `desc` (default) or `asc`." orderByScore: String, "Pagination settings with index and size" page: Pagination): AssociatedTargets! "All ancestor diseases in the ontology from this term up to the top-level therapeutic area" resolvedAncestors: [Disease!]! } "Cancer cell lines used to generate evidence" type DiseaseCellLine { "Name of the tissue from which the cells were sampled" tissue: String "Anatomical identifier of the sampled organ/tissue" tissueId: String "Cell type identifier in cell ontology or in cell model database" id: String "Name of the cell model" name: String } "Disease and phenotypes annotations" type DiseaseHPO { "List of phenotype annotations." evidence: [DiseaseHPOEvidences!]! "Phenotype entity" phenotypeHPO: HPO "Disease Entity" phenotypeEFO: Disease } "the HPO project provides a large set of phenotype annotations. Source: Phenotype.hpoa" type DiseaseHPOEvidences { "This field indicates the source of the information used for the annotation (phenotype.hpoa)" references: [String!]! "A term-id from the HPO-sub-ontology" frequency: String "Possible source mapping: HPO or MONDO" resource: String! "This optional field can be used to qualify the annotation. Values: [True or False]" qualifierNot: Boolean! "This field refers to the database and database identifier. EG. OMIM" diseaseFromSourceId: String! "This field contains the strings MALE or FEMALE if the annotation in question is limited to males or females." sex: String "This refers to the center or user making the annotation and the date on which the annotation was made" bioCuration: String "This field indicates the level of evidence supporting the annotation." evidenceType: String "Related name from the field diseaseFromSourceId" diseaseFromSource: String! "One of P (Phenotypic abnormality), I (inheritance), C (onset and clinical course). Might be null (MONDO)" aspect: String "HP terms from the Clinical modifier subontology" modifiers: [HPO!]! "A term-id from the HPO-sub-ontology below the term Age of onset." onset: [HPO!]! "HPO Entity" frequencyHPO: HPO } "Human Phenotype Ontology (HPO) annotations associated with the disease" type DiseaseHPOs { "Total number of phenotype annotations" count: Long! "List of phenotype annotations for the disease" rows: [DiseaseHPO!]! } "Synonymous disease labels grouped by relationship type" type DiseaseSynonyms { "Type of synonym relationship (e.g., exact, related, narrow)" relation: String! "List of synonymous disease labels for this relationship type" terms: [String!]! } "Core annotation for drug or clinical candidate molecules. A drug in the platform is understood as any bioactive molecule with drug-like properties included in the EMBL-EBI ChEMBL database. All ChEMBL molecules fullfilling any of the next criteria are included in the database: a) Molecules with a known indication. b) Molecules with a known mechanism of action c) ChEMBL molecules included in the DrugBank database d) Molecules that are acknowledged as chemical probes" type Drug { "Flag indicating whether the drug has safety warnings" blackBoxWarning: Boolean! "Classification of the molecule's therapeutic category or chemical class (e.g. Antibody)" drugType: String! "Highest clinical trial phase reached by the drug or clinical candidate molecule. [Values: -1: `Unknown`, 0: `Phase 0`, 0.5: `Phase I (Early)`, 1: `Phase I`, 2: `Phase II`, 3: `Phase III`, 4: `Phase IV`]" maximumClinicalTrialPhase: Float "Flag indicating whether the drug was removed from market" hasBeenWithdrawn: Boolean! "Cross-reference information for this molecule from external databases" crossReferences: [DrugReferences!] "Flag indicating whether the drug has received regulatory approval" isApproved: Boolean "Summary of the drug's clinical development" description: String "Year when the drug received regulatory approval" yearOfFirstApproval: Int "List of alternative names for the drug" synonyms: [String!]! "Drug or clinical candidate molecule identifier" id: String! "List of brand names for the drug" tradeNames: [String!]! "Generic name of the drug molecule" name: String! "Parent molecule for derivative compounds" parentMolecule: Drug "List of molecules corresponding to derivative compounds" childMolecules: [Drug!]! "Indications for which there is a phase IV clinical trial" approvedIndications: [String!] "Warnings present on drug as identified by ChEMBL." drugWarnings: [DrugWarning!]! "Semantically similar drugs based on a PubMed word embedding model" similarEntities( "List of IDs (EFO disease IDs, Ensembl gene IDs, or ChEMBL molecule IDs)" additionalIds: [String!], "List of entity names to search for (target, disease, drug,...)" entityNames: [String!], "Threshold similarity between 0 and 1" threshold: Float, "Number of items per page [Default: 25, Max: 3000]" size: Int): [Similarity!]! "Return the list of publications that mention the main entity, alone or in combination with other entities" literatureOcurrences( "List of IDs (EFO disease IDs, Ensembl gene IDs, or ChEMBL molecule IDs)" additionalIds: [String!], "Year at the lower end of the filter" startYear: Int, "Month at the lower end of the filter. This value will be ignored if startYear is not set" startMonth: Int, "Year at the higher end of the filter" endYear: Int, "Month at the higher end of the filter. This value will be ignored if endYear is not set" endMonth: Int, "Opaque cursor for pagination" cursor: String): Publications! "Mechanisms of action to produce intended pharmacological effects. Curated from scientific literature and post-marketing package inserts" mechanismsOfAction: MechanismsOfAction "Investigational and approved indications curated from clinical trial records and post-marketing package inserts" indications: Indications "Curated Clinical trial records and and post-marketing package inserts with a known mechanism of action" knownDrugs( "Free-text search query string" freeTextQuery: String, "Number of items per page [Default: 25, Max: 3000]" size: Int, "Opaque cursor for pagination" cursor: String): KnownDrugs "Significant adverse events estimated from pharmacovigilance reports deposited in FAERS" adverseEvents( "Pagination settings with index and size" page: Pagination): AdverseEvents "Pharmacogenomics data linking genetic variants to responses to this drug. Data is integrated from sources including ClinPGx and describes how genetic variants influence individual responses to this drug." pharmacogenomics( "Pagination settings with index and size" page: Pagination): [Pharmacogenomics!]! "List of molecule potential indications" linkedDiseases: LinkedDiseases "List of molecule targets based on molecule mechanism of action" linkedTargets: LinkedTargets } "Cross-reference information for a drug molecule" type DrugReferences { "List of identifiers from the source database" ids: [String!]! "Source database providing the cross-reference" source: String! } "Blackbox and withdrawn information for drugs molecules included in ChEMBL database." type DrugWarning { "List of sources supporting the warning information" references: [DrugWarningReference!] "Classification of action taken (drug is withdrawn or has a black box warning)" warningType: String! "Description of the drug adverse effect" description: String "Year when the warning was issued" year: Int "List of disease labels associated with the warning" efoTerm: String "Internal identifier for the drug warning record" id: Long "Country where the warning was issued" country: String "List of disease identifiers associated with the warning [bioregistry:efo]" efoId: String "List of molecule identifiers associated with the warning" chemblIds: [String!] "Classification of toxicity type associated with the drug" toxicityClass: String "Disease identifier categorising the type of warning [bioregistry:efo]" efoIdForWarningClass: String } "Reference information for drug warnings" type DrugWarningReference { "Source of the reference" source: String! "URL linking to the reference" url: String! "Reference identifier (e.g., PubMed ID)" id: String! } "Drug with drug identifiers" type DrugWithIdentifiers { "Drug identifier from the original data source" drugFromSource: String "Drug or clinical candidate identifier" drugId: String "Drug or clinical candidate entity" drug: Drug } "Union of core Platform entities returned by search or mappings (Target, Drug, Disease, Variant, Study)" union EntityUnionType = Target | Drug | Disease | Variant | Study "Target - disease evidence from all data sources. Every piece of evidence supporting an association between a target (gene or protein) and a disease or phenotype is reported and scored according to the confidence we have in the association. Multiple target-disease evidence from the same source can be reported in this dataset. The dataset is partitioned by data source, therefore evidence for individual sources can be retrieved separately. The dataset schema is a superset of all the schemas for all sources." type Evidence { "Year of the publication" publicationYear: Long "Description of target modulation event" targetModulation: String "Standard terms to define clinical significance" clinicalSignificances: [String!] "End of the distribution the target was picked from" statisticalTestTail: String "Methods to detect cancer driver genes producing significant results" significantDriverMethods: [String!] "Phenotypes observed in genetically-modified animal models" diseaseModelAssociatedModelPhenotypes: [LabelledElement!] "List of pooled pathways" pathways: [Pathway!] "False discovery rate of the genetic interaction test" geneticInteractionFDR: Float "The identifer of the project that generated the data" projectId: String "Background of the derived cell lines" cellLineBackground: String "List of PubMed or preprint reference identifiers" literature: [String!] "Phase of the clinical trial. [Values: -1: `Unknown`, 0: `Phase 0`, 0.5: `Phase I (Early)`, 1: `Phase I`, 2: `Phase II`, 3: `Phase III`, 4: `Phase IV`]" clinicalPhase: Float "The applied screening library in the CRISPR/CAS9 project" crisprScreenLibrary: String "Allelic composition of the model organism" biologicalModelAllelicComposition: String "Role of a target in the genetic interaction test" targetRole: String "Short name of the studied cohort" cohortShortName: String "Score of the evidence reflecting the strength of the disease/target relationship" score: Float! "Samples with a given mutation tested" mutatedSamples: [EvidenceVariation!] "Number of cases in case-control study" studyCases: Long "The studied cell type. Preferably the cell line ontology label" cellType: String "Date of the release of the data in a 'YYYY-MM-DD' format" releaseDate: String "Cancer cell lines used to generate evidence" diseaseCellLines: [DiseaseCellLine!] "Genetic background of the model organism" biologicalModelGeneticBackground: String "Target name/synonym in animal model" targetInModel: String "Identifer of the interacting target" interactingTargetFromSourceId: String "Gain or loss of function effect of the evidence on the target resulting from genetic variants, pharmacological modulation, or other perturbations" directionOnTarget: String "Percentile of top differentially regulated genes (transcripts) within experiment" log2FoldChangePercentileRank: Long "List of biomarkers associated with the biological model" biomarkerList: [NameDescription!] "Identifier of the ancestry in the HANCESTRO ontology [bioregistry:hancestro]" ancestryId: String "Upper value of the confidence interval for odds ratio" oddsRatioConfidenceIntervalUpper: Float "Size of effect captured as odds ratio" oddsRatio: Float "The statistical method used to calculate the association" statisticalMethod: String "Descriptions of variant consequences at protein level" variantAminoacidDescriptions: [String!] "Reason why a study has been stopped" studyStopReason: String "Primary Project Hit" primaryProjectHit: Boolean "Primary Project Id" primaryProjectId: String "Identifier of the referenced biological material" biosamplesFromSource: [String!] "Sample size of study" studySampleSize: Long "Identifier of the biological model (eg. in MGI)" biologicalModelId: String "Genetic origin of a population" ancestry: String "Overview of the statistical method used to calculate the association" statisticalMethodOverview: String "Confidence qualifier on the reported evidence" confidence: String "Log2 fold expression change in contrast experiment" log2FoldChangeValue: Float "Disease identifier from the original source" diseaseFromSourceId: String "False discovery rate of the genetic test" phenotypicConsequenceFDR: Float "Altered characteristics that influences the disease process" biomarkerName: String "Target ID in resource of origin (accepted sources include Ensembl gene ID, Uniprot ID, gene symbol), only capital letters are accepted" targetFromSourceId: String "Experiment contrast" contrast: String "Description of the studied cohort" cohortDescription: String "Lower value of the confidence interval" betaConfidenceIntervalLower: Float "Description of the interaction between the two genes" geneInteractionType: String "Description of the study" studyOverview: String "Upper value of the confidence interval" betaConfidenceIntervalUpper: Float "Assessments" assessments: [String!] "Inheritance patterns" allelicRequirements: [String!] "Identifer of the evidence source" datasourceId: String! "Role of a target in the genetic interaction test" interactingTargetRole: String "Start date of study in a YYYY-MM-DD format" studyStartDate: String "Predicted reason(s) why the study has been stopped based on studyStopReason" studyStopReasonCategories: [String!] "Lower value of the confidence interval for odds ratio" oddsRatioConfidenceIntervalLower: Float "Disease label from the original source" diseaseFromSource: String "Last name and initials of the first author of the publication that references the evidence" publicationFirstAuthor: String "Name of the reaction, patway or gene set in Reactome" reactionName: String "Mantissa of the p-value" pValueMantissa: Float "Origin of the variant allele" alleleOrigins: [String!] "Description of the project that generated the data" projectDescription: String "Identifer of the disease/target evidence" id: String! "Assays used in the study" assays: [assays!] "Warning message" warningMessage: String "Reference to linked external resource (e.g. clinical trials, studies, package inserts, reports, etc.)" urls: [LabelledUri!] "Text mining sentences extracted from literature" textMiningSentences: [EvidenceTextMiningSentence!] "Direction On Trait" directionOnTrait: String "Drug name/family in resource of origin" drugFromSource: String "Mapped Open Targets disease identifier" diseaseFromSourceMappedId: String "Identifier of the study generating the data" studyId: String "Exponent of the p-value" pValueExponent: Long "Log 2 fold change of the cell survival" phenotypicConsequenceLogFoldChange: Float "The strength of the genetic interaction. Directionality is captured as well: antagonistics < 0 < cooperative" geneticInteractionScore: Float "List of biomarkers" biomarkers: biomarkers "Current stage of a clinical study" clinicalStatus: String "Type of the evidence" datatypeId: String! "Pathway, gene set or reaction identifier in Reactome" reactionId: String "Human phenotypes equivalent to those observed in animal models" diseaseModelAssociatedHumanPhenotypes: [LabelledElement!] "Variant reference SNP cluster ID (Rsid)" variantRsId: String "P-value of the the cell survival test" phenotypicConsequencePValue: Float "Identifier of the studied cohort" cohortId: String "Target name/synonym or non HGNC symbol in resource of origin" targetFromSource: String "Score provided by datasource indicating strength of target-disease association" resourceScore: Float "Effect size of numberic traits" beta: Float "Open Targets data release version" releaseVersion: String "Clinical features/phenotypes observed in studied individuals" cohortPhenotypes: [String!] "Number of cases in a case-control study that carry at least one allele of the qualifying variant" studyCasesWithQualifyingVariants: Long "P-value of the genetic interaction test" geneticInteractionPValue: Float "Target for which the disease is associated in this evidence" target: Target! "Disease for which the target is associated in this evidence" disease: Disease! "Credible set (StudyLocus) supporting this evidence" credibleSet: CredibleSet "Variant supporting the relationship between the target and the disease" variant: Variant "Drug or clinical candidate targeting the target and studied/approved for the specific disease as potential indication [bioregistry:chembl]" drug: Drug "Observed patterns of drug response" drugResponse: Disease "Sequence ontology (SO) term of the functional consequence of the variant" variantFunctionalConsequence: SequenceOntologyTerm "Sequence ontology (SO) term of the functional consequence of the variant from QTL" variantFunctionalConsequenceFromQtlId: SequenceOntologyTerm "List of PubMed Central identifiers of full text publication [bioregistry:pmc]" pubMedCentralIds: [String!] } "Evidence datasource and datatype metadata" type EvidenceSource { "Datatype/category of the evidence (e.g., Genetic association, Somatic, Literature)" datatype: String! "Name of the evidence datasource" datasource: String! } "Extracted text snippet from literature supporting a target\u2013disease statement" type EvidenceTextMiningSentence { "Start character offset of the disease mention in the sentence" dStart: Long! "Sentence text supporting the association" text: String! "End character offset of the target mention in the sentence" tEnd: Long! "Start character offset of the target mention in the sentence" tStart: Long! "End character offset of the disease mention in the sentence" dEnd: Long! "Publication section where the sentence was found (e.g., abstract, results)" section: String! } "Summary of mutation counts by functional consequence in the cohort" type EvidenceVariation { "Number of cohort samples in which the target is mutated with a mutation of any type" numberMutatedSamples: Long "Number of cohort samples in which the target is mutated with a specific mutation type" numberSamplesWithMutationType: Long "Number of cohort samples tested" numberSamplesTested: Long "Sequence ontology (SO) identifier of the functional consequence of the variant [bioregistry:so]" functionalConsequence: SequenceOntologyTerm } "Target\u2013disease evidence items with total count and pagination cursor" type Evidences { "Total number of evidence items available for the query" count: Long! "Opaque pagination cursor to request the next page of results" cursor: String "List of evidence items supporting the target\u2013disease association" rows: [Evidence!]! } "Array of structs containing expression data relevant to a particular gene and biosample combination" type Expression { "Tissue/biosample information for the expression data" tissue: Tissue! "RNA expression values for the biosample and gene combination" rna: RNAExpression! "Protein expression values for the biosample and gene combination" protein: ProteinExpression! } "CRISPR screening experiments supporting the essentiality assessment. Represents individual cell line assays from DepMap." type GeneEssentialityScreen { "Unique identifier of the assay in DepMap" depmapId: String "Gene effect score indicating the impact of gene knockout" geneEffect: Float "Disease associated with the cell line as reported in the source data" diseaseFromSource: String "Cell model passport identifier of a cell line modelling a disease" diseaseCellLineId: String "Background mutation the tested cell line have" mutation: String "Name of the cancer cell line in which the gene essentiality was assessed" cellLineName: String "Gene expression level in the corresponding cell line" expression: Float } "Gene Ontology (GO) annotations related to the target" type GeneOntology { "Source database and identifier where the ontology term was sourced from" source: String! "Evidence supporting the GO annotation" evidence: String! "Type of the GO annotation: molecular function (F), biological process (P) and cellular localisation (C)" aspect: String! "Gene product associated with the GO annotation [bioregistry:uniprot]" geneProduct: String! "Gene ontology term" term: GeneOntologyTerm! } "Gene ontology (GO) term [bioregistry:go]" type GeneOntologyTerm { "Gene ontology term identifier [bioregistry:go]" id: String! "Gene ontology term name" name: String! } "Genomic location information of the target gene" type GenomicLocation { "Genomic start position of the target gene" start: Long! "Chromosome on which the target is located" chromosome: String! "Genomic end position of the target gene" end: Long! "Strand orientation of the target gene" strand: Int! } "Human Phenotype Ontology subset of information included in the Platform." type HPO { "Phenotype description" description: String "Open Targets hpo id" id: String! "namespace" namespace: [String!] "Phenotype name" name: String! } "Attributes of the hallmark annotation" type HallmarkAttribute { "Description of the hallmark attribute" description: String! "Name of the hallmark attribute" name: String! "PubMed ID of the supporting literature for the hallmark attribute [bioregistry:pubmed]" pmid: Long } "Hallmarks related to the target gene sourced from COSMIC" type Hallmarks { "Cancer hallmarks associated with the target gene" cancerHallmarks: [CancerHallmark!]! "Attributes of the hallmark annotation" attributes: [HallmarkAttribute!]! } "Homologues of the target gene in other species according to Ensembl Compara" type Homologue { "Species name for the homologue" speciesName: String! "Species ID for the homologue" speciesId: String! "Gene symbol of the homologous target" targetGeneSymbol: String! "Gene ID of the homologue" targetGeneId: String! "Percentage identity of the query gene in the homologue" queryPercentageIdentity: Float! "Indicates if the homology is high confidence according to Ensembl Compara" isHighConfidence: String "Percentage identity of the homologue in the query gene" targetPercentageIdentity: Float! "Type of homology relationship" homologyType: String! } "Identifier with source information" type IdAndSource { "Source database or organization providing the identifier" source: String! "Identifier value" id: String! } "Reference information for drug indications" type IndicationReference { "List of reference identifiers (e.g., PubMed IDs)" ids: [String!] "Source of the reference" source: String! } "Indication information linking a drug or clinical candidate molecule to a disease" type IndicationRow { "Maximum clinical trial phase for this drug-disease indication. [Values: -1: `Unknown`, 0: `Phase 0`, 0.5: `Phase I (Early)`, 1: `Phase I`, 2: `Phase II`, 3: `Phase III`, 4: `Phase IV`]" maxPhaseForIndication: Float! "Reference information supporting the indication" references: [IndicationReference!] "Potential indication disease entity" disease: Disease! } "Collection of indications for a drug or clinical candidate molecule" type Indications { "List of approved indication identifiers" approvedIndications: [String!] "Total number of potential indications" count: Long! "List of potential indication entries" rows: [IndicationRow!]! } "Integration of molecular interactions reporting experimental or functional interactions between molecules represented as Platform targets. This dataset contains pair-wise interactions deposited in several databases capturing: physical interactions (e.g. IntAct), directional interactions (e.g. Signor), pathway relationships (e.g. Reactome) or functional interactions (e.g. STRINGdb)." type Interaction { "Taxonomic annotation of target A" speciesA: InteractionSpecies "Identifier for target A in source" intA: String! "Number of evidence entries supporting this interaction" count: Long! "Scoring or confidence value assigned to the interaction. Scores are normalized to a range of 0-1. The higher the score, the stronger the support for the interaction. In IntAct, scores are captured with the MI score." score: Float "Name of the source database reporting the interaction" sourceDatabase: String! "Identifier for target B in source" intB: String! "Biological role of target B in the interaction" intBBiologicalRole: String! "Biological role of target A in the interaction" intABiologicalRole: String! "Taxonomic annotation of target B" speciesB: InteractionSpecies "Target (gene/protein) of the first molecule (target A) in the interaction" targetA: Target "Target (gene/protein) of the second molecule (target B) in the interaction" targetB: Target "List of evidences for this interaction" evidences: [InteractionEvidence!]! } "Evidence supporting molecular interactions between targets. Contains detailed information about how the interaction was detected, the experimental context, and supporting publications." type InteractionEvidence { "Source where interactor B is identified" intBSource: String! "NCBI taxon ID of the host organism" hostOrganismTaxId: Long "PubMed ID of the publication supporting the interaction evidence [bioregistry:pubmed]" pubmedId: String "Short name of the method used to expand the interaction dataset" expansionMethodShortName: String "Molecular Interactions (MI) identifier for the expansion method used [bioregistry:mi]" expansionMethodMiIdentifier: String "Unique identifier for the interaction evidence entry at the source" interactionIdentifier: String "Short name of the method used to detect the interaction" interactionDetectionMethodShortName: String! "Detection method used to identify participant B in the interaction" participantDetectionMethodB: [InteractionEvidencePDM!] "Detection method used to identify participant A in the interaction" participantDetectionMethodA: [InteractionEvidencePDM!] "Source where interactor A is identified" intASource: String! "Short name of the interaction type" interactionTypeShortName: String "Molecular Interactions (MI) identifier for the interaction detection method [bioregistry:mi]" interactionDetectionMethodMiIdentifier: String! "Scientific name of the host organism in which the interaction was observed" hostOrganismScientificName: String "Molecular Interactions (MI) identifier for the type of interaction [bioregistry:mi]" interactionTypeMiIdentifier: String "Score indicating the confidence or strength of the interaction evidence" evidenceScore: Float } "Detection method used to identify participants in the interaction" type InteractionEvidencePDM { "Molecular Interactions (MI) identifier for the detection method [bioregistry:mi]" miIdentifier: String "Short name of the detection method" shortName: String } "Databases providing evidence for the interaction" type InteractionResources { "Name of the source database reporting the interaction evidence" sourceDatabase: String! "Version of the source database providing interaction evidence" databaseVersion: String! } "Taxonomic annotation of the interaction participants" type InteractionSpecies { "NCBI taxon ID of the species" taxonId: Long "Scientific name of the species" scientificName: String "Short mnemonic name of the species" mnemonic: String } "Molecular interactions reported between targets, with total count and rows" type Interactions { "Total number of interaction entries available for the query" count: Long! "List of molecular interaction entries" rows: [Interaction!]! } "Regulatory enhancer/promoter regions to gene (target) predictions for a specific tissue/cell type based on the integration of experimental sources" type Interval { "Combined score for the enhancer/promoter region to gene prediction" score: Float! "Type of regulatory region (e.g., enhancer, promoter)" intervalType: String! "Genomic start position of the regulatory region" start: Int! "Distance from the regulatory region to the transcription start site" distanceToTss: Int! "Genomic end position of the regulatory region" end: Int! "Identifier of the data source providing the regulatory region to gene prediction" datasourceId: String! "Name of the biosample where the interval was identified" biosampleName: String! "Identifier of the study providing the experimental data" studyId: String! "Chromosome containing the regulatory region" chromosome: String! "PubMed identifier for the study providing the evidence [bioregistry:pubmed]" pmid: String! "Scores from individual resources used in prediction" resourceScore: [ResourceScore!]! "Predicted gene (target)" target: Target! "Cell type or tissue where the regulatory region to gene prediction was identified" biosample: Biosample } "Collection of regulatory enhancer/promoter regions to gene (target) predictions for a specific tissue/cell type based on the integration of experimental sources" type Intervals { "Total number of enhancer/promoter region to gene predictions" count: Long! "List of enhancer/promoter region to gene predictions" rows: [Interval!]! } "A key-value pair" type KeyValue { "Key or attribute name" key: String! "String representation of the value" value: String! } "An array of key-value pairs" type KeyValueArray { "List of key-value entries" items: [KeyValue!]! } "For any approved or clinical candidate drug, includes information on the target gene product and indication. It is derived from the ChEMBL target/disease evidence." type KnownDrug { "Disease label for the condition being treated" label: String! "List of web addresses that support the drug/indication pair" urls: [URL!]! "Classification of the modality of the drug (e.g. Small molecule)" drugType: String! "Open Targets molecule identifier" drugId: String! "Open Targets disease identifier" diseaseId: String! "Source urls for FDA or package inserts" references: [KnownDrugReference!]! "Drug pharmacological action" mechanismOfAction: String! "Open Targets target identifier" targetId: String! "Classification category of the drug's biological target (e.g. Enzyme)" targetClass: [String!]! "Clinical development stage of the drug. [Values: -1: `Unknown`, 0: `Phase 0`, 0.5: `Phase I (Early)`, 1: `Phase I`, 2: `Phase II`, 3: `Phase III`, 4: `Phase IV`]" phase: Float! "Clinical trial status for the drug/indication pair" status: String "Approved full name of the gene or gene product modulated by the drug" approvedName: String! "Clinicaltrials.gov identifiers on entry trials" ctIds: [String!]! "Approved gene symbol of the target modulated by the drug" approvedSymbol: String! "Commonly used name for the drug" prefName: String! "Curated disease indication entity" disease: Disease "Drug target entity based on curated mechanism of action" target: Target "Curated drug entity" drug: Drug } "Reference information for known drug indications" type KnownDrugReference { "List of URLs linking to the reference" urls: [String!]! "List of reference identifiers" ids: [String!]! "Source of the reference (e.g., PubMed, FDA, package inserts)" source: String! } "Set of clinical precedence for drugs with investigational or approved indications targeting gene products according to their curated mechanism of action" type KnownDrugs { "Total unique diseases or phenotypes" uniqueDiseases: Long! "Opaque pagination cursor to request the next page of results" cursor: String "Total unique known mechanism of action targets" uniqueTargets: Long! "Total unique drug or clinical candidate molecules" uniqueDrugs: Long! "Total number of entries" count: Long! "Clinical precedence entries with known mechanism of action" rows: [KnownDrug!]! } "Feature used in Locus2gene model predictions" type L2GFeature { "SHAP (SHapley Additive exPlanations) value indicating the feature's contribution to the prediction" shapValue: Float! "Value of the feature" value: Float! "Name of the feature" name: String! } "Predictions from Locus2gene model integrating multiple functional genomic features to estimate the most likely causal gene for a given credible set. The dataset contains all predictions for every combination of credible set and genes in the region as well as statistics to explain the model interpretation of the predictions." type L2GPrediction { "Features used in the Locus2gene model prediction" features: [L2GFeature!] "SHAP base value for the prediction. This value is common to all predictions for a given credible set." shapBaseValue: Float! "Locus2gene prediction score for the gene assignment. Higher scores indicate a stronger association between the credible set and the gene. Scores range from 0 to 1." score: Float! "Study-locus identifier for the credible set" studyLocusId: String! "Target entity of the L2G predicted gene" target: Target } "Predictions from Locus2gene gene assignment model. The dataset contains all predictions for every combination of credible set and genes in the region as well as statistics to explain the model interpretation of the predictions." type L2GPredictions { "Total number of Locus2gene predictions" count: Long! "Study-locus identifier for the credible set" id: String! "List of Locus2gene predictions for credible set and gene combinations" rows: [L2GPrediction!]! } "Label with source information" type LabelAndSource { "Label value (e.g., synonym, symbol)" label: String! "Source database of the label" source: String! } "Identifier and human-readable label pair" type LabelledElement { "Human-readable label" label: String! "Identifier value" id: String! } "External resource link with an optional display name" type LabelledUri { "Optional human-readable label for the URL" niceName: String "URL to the external resource" url: String! } "Collection of populations referenced by the study. Used to describe the linkage disequilibrium (LD) population structure of GWAS studies." type LdPopulationStructure { "Population identifier" ldPopulation: String "Fraction of the total sample represented by the population" relativeSampleSize: Float } "Variants in linkage disequilibrium (LD) with the credible set lead variant." type LdSet { "The R-squared value for the tag variants with the credible set lead variant" r2Overall: Float "The variant ID for tag variants in LD with the credible set lead variant" tagVariantId: String } "Diseases linked via indications" type LinkedDiseases { "Total number of linked diseases" count: Int! "List of linked disease entities" rows: [Disease!]! } "Targets linked via curated mechanisms of action" type LinkedTargets { "Total number of linked targets" count: Int! "List of linked target entities" rows: [Target!]! } "Subcellular location information with source" type LocationAndSource { "Subcellular location category from SwissProt" labelSL: String "Source database for the subcellular location" source: String! "Name of the subcellular compartment where the protein was found" location: String! "Subcellular location term identifier from SwissProt [bioregistry:sl]" termSL: String } "Collection of variants within a credible set (locus)" type Loci { "Total number of variants in the credible set" count: Long! "Variants within the credible set and their associated statistics" rows: [Locus!] } "List of variants within the credible set" type Locus { "Exponent of the P-value for this variant in the credible set" pValueExponent: Int "Log (natural) Bayes factor for the variant from fine-mapping" logBF: Float "R-squared (LD) between this credible set variant and the lead variant" r2Overall: Float "Boolean for if the variant is part of the 95% credible set" is95CredibleSet: Boolean "Posterior inclusion probability for the variant within this credible set" posteriorProbability: Float "Mantissa of the P-value for this variant in the credible set" pValueMantissa: Float "Boolean for if the variant is part of the 99% credible set" is99CredibleSet: Boolean "Standard error of this variant in the credible set" standardError: Float "Beta coefficient of this variant in the credible set" beta: Float "Variant in the credible set" variant: Variant } "Mapping result for a single input term" type MappingResult { "Search hits that the term maps to, if any" hits: [SearchResult!] "Input term submitted for mapping" term: String! } "Mapping results for multiple terms with total hit count and aggregations" type MappingResults { "Facet aggregations over mapped entities and categories" aggregations: SearchResultAggs "Total number of mapped hits across all terms" total: Long! "Per-term mapping results" mappings: [MappingResult!]! } "Mechanism of action information for a drug" type MechanismOfActionRow { "Reference information supporting the mechanism of action" references: [Reference!] "Description of the mechanism of action" mechanismOfAction: String! "Name of the target molecule" targetName: String "Classification of how the drug interacts with its target (e.g., ACTIVATOR, INHIBITOR)" actionType: String "List of on-target (genes or proteins) involved in the drug or clinical candidate mechanism of action" targets: [Target!]! } "Collection of mechanisms of action for a drug molecule" type MechanismsOfAction { "Unique list of target types across all mechanisms" uniqueTargetTypes: [String!]! "List of mechanism of action entries" rows: [MechanismOfActionRow!]! "Unique list of action types across all mechanisms" uniqueActionTypes: [String!]! } "Metadata about the Open Targets Platform API including version information" type Meta { "Data release version information" dataVersion: DataVersion! "Open Targets product" product: String! "Flag indicating whether data release prefix is enabled" enableDataReleasePrefix: Boolean! "Data release prefix" dataPrefix: String! "API version information" apiVersion: APIVersion! "Name of the platform" name: String! "Platform datasets described following MLCroissant metadata format. Datasets are described in a JSONLD file containing extensive metadata including table and column descriptions, schemas, location and relationships." downloads: String } "Container for phenotype class-related attributes" type ModelPhenotypeClasses { "Descriptive label for the phenotype class" label: String! "Unique identifier for the phenotype class [bioregistry:mp]" id: String! } "Mouse phenotype information linking human targets to observed phenotypes in mouse models" type MousePhenotype { "MGI identifier for the target gene in the mouse model [bioregistry:mgi]" targetInModelMgiId: String! "Ensembl identifier for the target gene in the mouse model" targetInModelEnsemblId: String "Identifier for the specific phenotype observed in the model [bioregistry:mp]" modelPhenotypeId: String! "Name of the target gene as represented in the mouse model" targetInModel: String! "Container for phenotype class-related attributes" modelPhenotypeClasses: [ModelPhenotypeClasses!]! "Container for all biological model-related attributes" biologicalModels: [BiologicalModels!]! "Human-readable label describing the observed phenotype" modelPhenotypeLabel: String! } "Generic pair of a name and its description" type NameDescription { "Human-readable description of the element" description: String! "Name or label of the element" name: String! } "Open Targets (OTAR) project information associated with a disease. Data only available in Partner Platform Preview (PPP)" type OtarProject { "OTAR project code identifier" otarCode: String! "Reference or citation for the OTAR project" reference: String! "Whether the project integrates data in the Open Targets Partner Preview (PPP)" integratesInPPP: Boolean "Status of the OTAR project" status: String "Name of the OTAR project" projectName: String } "Pagination settings for controlling result set size and page navigation. Uses zero-based indexing to specify which page of results to retrieve." input Pagination { "Zero-based page index" index: Int! "Number of items per page [Default: 25, Max: 3000]" size: Int! } "Pathway metadata from Reactome pathway database." type Pathway { "Reactome pathway identifier [bioregistry:reactome]" id: String "Reactome pathway name" name: String! } "Pharmacogenomics data linking genetic variants to drug responses. Data is integrated from sources including ClinPGx." type Pharmacogenomics { "Phenotype identifier from the source" phenotypeFromSourceId: String "PubMed identifier (PMID) of the literature entry [bioregistry:pubmed]" literature: [String!] "The sequence ontology identifier of the consequence of the variant based on Ensembl VEP in the context of the transcript [bioregistry:so]" variantFunctionalConsequenceId: String "Strength of the scientific support for the variant/drug response" evidenceLevel: String "Whether the target is directly affected by the variant" isDirectTarget: Boolean! "Identifier for the specific genetic variant combination (e.g., 1_1500_A_A,T)" genotypeId: String "Target (gene/protein) identifier as reported by the data source" targetFromSourceId: String "Identifier for the data provider" datasourceId: String "Genetic variant configuration" genotype: String "Variant identifier in CHROM_POS_REF_ALT notation" variantId: String "Combination of genetic variants that constitute a particular allele of a gene (e.g., CYP2C9*3)" haplotypeId: String "Annotation details about the variant effect on drug response" variantAnnotation: [VariantAnnotation!] "Explanation of the genotype's clinical significance" genotypeAnnotationText: String "Haplotype ID in the ClinPGx dataset" haplotypeFromSourceId: String "Classification of the drug response type (e.g., Toxicity)" pgxCategory: String "Identifier of the study providing the pharmacogenomic evidence" studyId: String "Classification of the type of pharmacogenomic data (e.g., clinical_annotation)" datatypeId: String "dbSNP rsID identifier for the variant" variantRsId: String "Description of the phenotype associated with the variant" phenotypeText: String "The sequence ontology identifier of the consequence of the variant based on Ensembl VEP in the context of the transcript [bioregistry:so]" variantFunctionalConsequence: SequenceOntologyTerm "Target entity" target: Target "List of drugs or clinical candidates associated with the pharmacogenomic data" drugs: [DrugWithIdentifiers!]! } "Descriptions of variant consequences at protein level. Protein coding coordinates link variants to their amino acid-level consequences in protein products." type ProteinCodingCoordinate { "Therapeutic areas associated with the variant-consequence relationship" therapeuticAreas: [String!]! "Data sources providing evidence for the protein coding coordinate" datasources: [Datasource!]! "Reference amino acid at this position" referenceAminoAcid: String! "Score indicating the predicted effect of the variant on the protein" variantEffect: Float "Amino acid resulting from the variant" alternateAminoAcid: String! "Position of the amino acid affected by the variant in the protein sequence" aminoAcidPosition: Int! "UniProt protein accessions for the affected protein [bioregistry:uniprot]" uniprotAccessions: [String!]! "Disease the protein coding variant has been associated with" diseases: [Disease!]! "Target (gene/protein) the protein coding variant has been associated with" target: Target "Protein coding variant" variant: Variant "The sequence ontology term capturing the consequence of the variant based on Ensembl VEP in the context of the transcript [bioregistry:so]" variantConsequences: [SequenceOntologyTerm!]! } "Collection of protein coding coordinates linking variants to their amino acid-level consequences" type ProteinCodingCoordinates { "Total number of phenotype-associated protein coding variants" count: Long! "List of phenotype-associated protein coding variants" rows: [ProteinCodingCoordinate!]! } "Struct containing relevant protein expression values for a particular biosample and gene combination" type ProteinExpression { "Reliability of the protein expression measurement" reliability: Boolean! "List of cell types were protein levels were measured" cellType: [CellType!]! "Level of protein expression normalised to 0-5 or -1 if absent" level: Int! } "Referenced publication information" type Publication { "PubMed identifier [bioregistry:pubmed]" pmid: String! "PubMed Central identifier (if available) [bioregistry:pmc]" pmcid: String "Publication date" publicationDate: String } "List of referenced publications with total counts, earliest year and pagination cursor" type Publications { "Total number of publications matching the query" count: Long! "Number of publications after applying filters" filteredCount: Long! "Earliest publication year." earliestPubYear: Int! "Opaque pagination cursor to request the next page of results" cursor: String "List of publications" rows: [Publication!]! } "Root query type providing access to all entities and search functionality in the Open Targets Platform. Supports retrieval of targets, diseases, drugs, variants, studies, credible sets, and their associations. Includes full-text search, mapping, and filtering capabilities." type Query { "Open Targets API metadata, including version and configuration information" meta: Meta! "Retrieve a target (gene/protein) by target identifier (e.g. ENSG00000139618)" target( "Ensembl ID" ensemblId: String!): Target "Retrieve multiple targets by target identifiers" targets( "List of Ensembl IDs" ensemblIds: [String!]!): [Target!]! "Retrieve a disease or phenotype by identifier (e.g. EFO_0000400)" disease( "EFO ID" efoId: String!): Disease "Retrieve multiple diseases by disease or phenotype identifiers" diseases( "EFO ID" efoIds: [String!]!): [Disease!]! "Retrieve a drug or clinical candidate by identifier (e.g. CHEMBL112)" drug( "Chembl ID" chemblId: String!): Drug "Retrieve multiple drugs or clinical candidates by identifiers" drugs( "List of Chembl IDs" chemblIds: [String!]!): [Drug!]! "Full-text, multi-entity search across all types of entities (targets, diseases, drugs, variants or studies)" search( "Search query string" queryString: String!, "List of entity names to search for (target, disease, drug,...)" entityNames: [String!], "Pagination settings with index and size" page: Pagination): SearchResults! "Search sets of targets or diseases used to facet associations" facets( "Search query string" queryString: String, "List of entity names to search for (target, disease, drug,...)" entityNames: [String!], "Category filter" category: String, "Pagination settings with index and size" page: Pagination): SearchFacetsResults! "Map free-text terms to canonical IDs used as primary identifiers in the Platform (targets, diseases, drugs, variants or studies). For example, mapping 'diabetes' to EFO_0000400 or 'BRCA1' to ENSG00000139618" mapIds( "List of query terms to map" queryTerms: [String!]!, "List of entity names to search for (target, disease, drug,...)" entityNames: [String!]): MappingResults! "List of available evidence datasources and their datatypes" associationDatasources: [EvidenceSource!]! "List of molecular interaction resources and their versions" interactionResources: [InteractionResources!]! "Fetch Gene Ontology terms by GO identifiers" geneOntologyTerms( "List of GO IDs, eg. GO:0005515" goIds: [String!]!): [GeneOntologyTerm]! "Retrieve a variant by identifier in the format of CHROM_POS_REF_ALT for SNPs and short indels (e.g. 19_44908684_T_C)" variant( "Variant ID" variantId: String!): Variant "Retrieve a GWAS or molecular QTL study by ID (e.g. GCST004131)" study( "Study ID" studyId: String): Study "List GWAS or molecular QTL studies filtered by ID(s) and/or disease(s); supports ontology expansion" studies( "Pagination settings with index and size" page: Pagination, "Study ID" studyId: String, "Disease IDs" diseaseIds: [String!], "Use the disease ontology to retrieve all its descendants and capture all their associated studies." enableIndirect: Boolean): Studies! "Retrieve a 95% credible set (study-locus) by identifier" credibleSet( "Study-locus ID" studyLocusId: String!): CredibleSet "List credible sets filtered by study-locus IDs, study IDs, variant IDs, study types or regions" credibleSets( "Pagination settings with index and size" page: Pagination, "Study-locus IDs" studyLocusIds: [String!], "Study IDs" studyIds: [String!], "List of variant IDs in CHROM_POS_REF_ALT format" variantIds: [String!], "Study types" studyTypes: [StudyTypeEnum!], "List of genomic regions (e.g., 1:100000-200000)" regions: [String!]): CredibleSets! } "RNA expression values for a particular biosample and gene combination" type RNAExpression { "Level of RNA expression normalised to 0-5 or -1 if absent" level: Int! "Expression value" value: Float! "Unit for the RNA expression" unit: String! "Expression zscore" zscore: Long! } "Reactome pathway information for the target" type ReactomePathway { "Top-level pathway term" topLevelTerm: String! "Pathway name" pathway: String! "Reactome pathway identifier" pathwayId: String! } "Reference information supporting the drug mechanisms of action" type Reference { "List of URLs linking to the reference" urls: [String!] "List of reference identifiers" ids: [String!] "Source of the reference (e.g., PubMed, FDA, package inserts)" source: String! } "Score from a specific datasource" type ResourceScore { "Score value from the resource" value: Float! "Name of the resource providing the score" name: String! } "Biosamples used in safety assessments" type SafetyBiosample { "Tissue ID for the biosample" tissueId: String "Label of the biosample cell" cellLabel: String "Format of the biosample cells" cellFormat: String "Label of the biosample tissue" tissueLabel: String "Cell identifier for the biosample" cellId: String } "Effects reported for safety events" type SafetyEffects { "Dosing conditions related to the reported effect" dosing: String "Direction of the reported effect (e.g., increase or decrease)" direction: String! } "Safety liabilities associated with the target" type SafetyLiability { "Safety event associated with the target" event: String "Unique identifier for the safety event" eventId: String "Literature references for the safety liability" literature: String "Studies related to safety assessments" studies: [SafetyStudy!] "Biosamples used in safety assessments" biosamples: [SafetyBiosample!] "Data source reporting the safety liability" datasource: String! "URL linking to more details on safety liabilities" url: String "Effects reported for the safety event" effects: [SafetyEffects!] } "Studies related to safety assessments" type SafetyStudy { "Description of the safety study" description: String "Type of safety study" type: String "Name of the safety study" name: String } "Sample information including ancestry and sample size. Used for both discovery and replication phases of GWAS studies." type Sample { "Sample ancestry name" ancestry: String "Sample size" sampleSize: Int } "Scored component used in association scoring" type ScoredComponent { "Association score for the component. Scores are normalized to a range of 0-1. The higher the score, the stronger the association." score: Float! "Component identifier (e.g., datatype or datasource name)" id: String! } "Facet category with result count" type SearchFacetsCategory { "Number of results in this category" total: Long! "Facet category name" name: String! } "Facet search hit for a single category item" type SearchFacetsResult { "Human-readable facet label" label: String! "Optional identifier of the datasource contributing this facet" datasourceId: String "Relevance score of the facet hit for the current query" score: Float! "Optional list of underlying entity identifiers represented by this facet" entityIds: [String!] "Facet category this item belongs to (e.g., target, disease)" category: String! "Facet identifier, which can be inputted in the associations query to filter by this facet" id: String! "Highlighted text snippets showing why this facet matched the query" highlights: [String!]! } "Facet search results including hits and category counts" type SearchFacetsResults { "List of facetable hits matching the query" hits: [SearchFacetsResult!]! "Total number of facetable results for the current query" total: Long! "Facet categories with their result counts" categories: [SearchFacetsCategory!]! } "Full-text search hit describing a single entity and its relevance to the query" type SearchResult { "Score boosting multiplier applied to the hit during search ranking" multiplier: Float! "List of name prefixes used for prefix matching" prefixes: [String!] "Relevance score returned by the search engine for this hit" score: Float! "Entity type of the hit (e.g., target, disease, drug, variant, study)" entity: String! "Short description or summary of the entity" description: String "Additional keywords associated with the entity to improve search" keywords: [String!] "List of categories the hit belongs to (e.g., TARGET, DISEASE, DRUG)" category: [String!]! "Entity identifier (e.g., Ensembl, EFO, ChEMBL, variant or study ID)" id: String! "Highlighted text snippets showing where the query matched" highlights: [String!]! "Primary display name for the entity" name: String! "List of n-grams derived from the name used for fuzzy matching" ngrams: [String!] "Resolved Platform entity corresponding to this search hit" object: EntityUnionType } "Search result aggregation category with result count" type SearchResultAggCategory { "Total number of search results in this category" total: Long! "Category name (e.g., target, disease, drug)" name: String! } "Search result aggregation by entity type with category breakdown" type SearchResultAggEntity { "Total number of search results for this entity type" total: Long! "List of category aggregations within this entity type" categories: [SearchResultAggCategory!]! "Entity type name (e.g., target, disease, drug, variant, study)" name: String! } "Search result aggregations grouped by entity type" type SearchResultAggs { "Total number of search results across all entities" total: Long! "List of entity type aggregations with category breakdowns" entities: [SearchResultAggEntity!]! } "Search results including hits and facet aggregations" type SearchResults { "Facet aggregations by entity and category for the current query" aggregations: SearchResultAggs "Combined list of search hits across requested entities" hits: [SearchResult!]! "Total number of results for the current query and entity filter" total: Long! } "Sequence ontology term identifier and name" type SequenceOntologyTerm { "Sequence ontology term label (e.g. 'missense_variant')" label: String! "Sequence ontology term identifier [bioregistry:so]" id: String! } "Semantic similarity score between labels, used to suggest related entities" type Similarity { "Similarity score between this entity and the query label. Scores are normalised between 0 and 1; higher scores indicate more similar entities." score: Float! "Entity category this similarity refers to (e.g., target, disease, drug)" category: String! "Identifier of the similar entity (e.g., Ensembl, EFO, ChEMBL ID)" id: String! "Resolved Platform entity corresponding to this similar label" object: EntityUnionType } "List of GWAS and molecular QTL studies with total count" type Studies { "Total number of studies matching the query" count: Long! "List of GWAS or molecular QTL studies" rows: [Study!]! } "Metadata for all complex trait and molecular QTL GWAS studies in the Platform. The dataset includes study metadata, phenotype information, sample sizes, publication information and more. Molecular QTL studies are splitted by the affected gene, tissue or cell type and condition, potentially leading to many studies in the same publication." type Study { "Molecular or phenotypic trait, derived from source, analysed in the study" traitFromSource: String "Identifier of the source project collection that the study information is derived from" projectId: String "The number of cases in this broad ancestry group" nCases: Int "Indication whether the summary statistics exist in the source" hasSumstats: Boolean "PubMed identifier of the publication hat references the study [bioregistry:pubmed]" pubmedId: String "The number of samples tested in GWAS analysis" nSamples: Int "Collection of ancestries reported by the study discovery phase" discoverySamples: [Sample!] "Collection of flags indicating the type of the analysis conducted in the association study" analysisFlags: [String!] "Reported sample conditions" condition: String "Phenotypic trait ids that map to the analysed trait reported by study" traitFromSourceMappedIds: [String!] "Title of the publication that references the study" publicationTitle: String "List of cohort(s) represented in the discovery sample" cohorts: [String!] "Collection of populations referenced by the study" ldPopulationStructure: [LdPopulationStructure!] "Path to the source study summary statistics (if exists at the source)" summarystatsLocation: String "Abbreviated journal name where the publication referencing study was published" publicationJournal: String "Last name and initials of the author of the publication that references the study" publicationFirstAuthor: String "The number of controls in this broad ancestry group" nControls: Int "Collection of ancestries reported by the study replication phase" replicationSamples: [Sample!] "Control metrics refining study validation" qualityControls: [String!] "Study initial sample size" initialSampleSize: String "Date of the publication that references study" publicationDate: String "Quality control flags for the study (if any)" sumstatQCValues: [SumStatQC!] "The GWAS or molQTL study identifier (e.g. GCST004132)" id: String! "The study type (e.g. gwas, eqtl, pqtl, sceqtl)" studyType: StudyTypeEnum "In molQTL studies, the gene under study for changes in expression, abundance, etc." target: Target "Tissue or cell type in which the molQTL has been detected" biosample: Biosample "Phenotypic trait ids that map to the analysed trait reported by study" diseases: [Disease!] "Any background trait(s) shared by all individuals in the study" backgroundTraits: [Disease!] "95% credible sets for GWAS and molQTL studies. Credible sets include all variants in the credible set as well as the fine-mapping method and statistics used to estimate the credible set." credibleSets( "Pagination settings with index and size" page: Pagination): CredibleSets! } "Study type, distinguishing GWAS from different classes of molecular QTL studies" enum StudyTypeEnum { "Bulk tissue expression quantitative trait locus (eQTL) study" eqtl "Genome-wide association study (GWAS) of complex traits or diseases" gwas "Bulk tissue protein quantitative trait locus (pQTL) study" pqtl "Single-cell expression quantitative trait locus (sc-eQTL) study" sceqtl "Single-cell protein quantitative trait locus (sc-pQTL) study" scpqtl "Single-cell splicing quantitative trait locus (sc-sQTL) study" scsqtl "Single-cell transcript uptake quantitative trait locus (sc-tuQTL) study" sctuqtl "Bulk tissue splicing quantitative trait locus (sQTL) study" sqtl "Bulk tissue transcript uptake quantitative trait locus (tuQTL) study" tuqtl } "Quality control flags for summary statistics. Mapping of quality control metric names to their corresponding values." type SumStatQC { "Quality control metric value" QCCheckValue: Float! "Quality control metric identifier" QCCheckName: String! } "Core annotation for drug targets (gene/proteins). Targets are defined based on EMBL-EBI Ensembl database and uses the Ensembl gene ID as the primary identifier. An Ensembl gene ID is considered potential drug target if included in the canonical assembly or if present alternative assemblies but encoding for a reviewed protein product according to the UniProt database." type Target { "List of name-based synonyms for the target gene" nameSynonyms: [LabelAndSource!]! "Pathway annotations for the target" pathways: [ReactomePathway!]! "List of Gene Ontology (GO) annotations related to the target" geneOntology: [GeneOntology!]! "List of alternative Ensembl gene identifiers mapped to non-canonical chromosomes" alternativeGenes: [String!]! "Genomic location information of the target gene" genomicLocation: GenomicLocation! "Target Enabling Package (TEP) information" tep: Tep "List of Ensembl transcript identifiers associated with the target" transcriptIds: [String!]! "Chemical probes with high selectivity and specificity for the target." chemicalProbes: [ChemicalProbe!]! "List of obsolete symbols previously used for the target gene" obsoleteSymbols: [LabelAndSource!]! "Target classification categories from ChEMBL" targetClass: [TargetClass!]! "Biotype classification of the target gene, indicating if the gene is protein coding" biotype: String! "Known target safety effects and target safety risk information" safetyLiabilities: [SafetyLiability!]! "Approved full name of the target gene" approvedName: String! "List of subcellular locations where the target protein is found" subcellularLocations: [LocationAndSource!]! "List of synonyms for the target gene" synonyms: [LabelAndSource!]! "Unique identifier for the target [bioregistry:ensembl]" id: String! "Hallmarks related to the target gene sourced from COSMIC" hallmarks: Hallmarks "Database cross-references for the target" dbXrefs: [IdAndSource!]! "Tractability information for the target" tractability: [Tractability!]! "The Ensembl canonical transcript of the target gene" canonicalTranscript: CanonicalTranscript "Homologues of the target gene in other species" homologues: [Homologue!]! "Constraint scores for the target gene from GnomAD based on loss-of-function intolerance." geneticConstraint: [Constraint!]! "Approved gene symbol of the target" approvedSymbol: String! "List of symbol-based synonyms for the target gene" symbolSynonyms: [LabelAndSource!]! "List of obsolete names previously used for the target gene" obsoleteNames: [LabelAndSource!]! "Functional descriptions of the target gene sourced from UniProt" functionDescriptions: [String!]! "Protein identifiers associated with the target" proteinIds: [IdAndSource!]! "95% credible sets for GWAS and molQTL studies. Credible sets include all variants in the credible set as well as the fine-mapping method and statistics used to estimate the credible set." credibleSets( "Pagination settings with index and size" page: Pagination): CredibleSets! "Return similar labels using a model Word2CVec trained with PubMed" similarEntities( "List of IDs (EFO disease IDs, Ensembl gene IDs, or ChEMBL molecule IDs)" additionalIds: [String!], "List of entity names to search for (target, disease, drug,...)" entityNames: [String!], "Threshold similarity between 0 and 1" threshold: Float, "Number of items per page [Default: 25, Max: 3000]" size: Int): [Similarity!]! "Return the list of publications that mention the main entity, alone or in combination with other entities" literatureOcurrences( "List of IDs (EFO disease IDs, Ensembl gene IDs, or ChEMBL molecule IDs)" additionalIds: [String!], "Year at the lower end of the filter" startYear: Int, "Month at the lower end of the filter. This value will be ignored if startYear is not set" startMonth: Int, "Year at the higher end of the filter" endYear: Int, "Month at the higher end of the filter. This value will be ignored if endYear is not set" endMonth: Int, "Opaque cursor for pagination" cursor: String): Publications! "Target-disease evidence from all data sources supporting associations between this target and diseases or phenotypes. Evidence entries are reported and scored according to confidence in the association." evidences( "EFO ID" efoIds: [String!]!, "List of datasource ids" datasourceIds: [String!], "Number of items per page [Default: 25, Max: 3000]" size: Int, "Opaque cursor for pagination" cursor: String): Evidences! "Molecular interactions reporting experimental or functional interactions between this target and other molecules. Interactions are integrated from multiple databases capturing physical interactions (e.g., IntAct), directional interactions (e.g., Signor), pathway relationships (e.g., Reactome), or functional interactions (e.g., STRINGdb)." interactions( "Threshold similarity between 0 and 1" scoreThreshold: Float, "Source database name" sourceDatabase: String, "Pagination settings with index and size" page: Pagination): Interactions "Mouse phenotype information linking this human target to observed phenotypes in mouse models. Provides data on phenotypes observed when the target gene is modified in mouse models." mousePhenotypes: [MousePhenotype!]! "Baseline RNA and protein expression data across tissues for this target. Expression data shows how targets are selectively expressed across different tissues and biosamples, combining values from multiple sources including Expression Atlas and Human Protein Atlas." expressions: [Expression!]! "Set of clinical precedence for drugs with investigational or approved indications targeting this gene product according to their curated mechanism of action" knownDrugs( "Free-text search query string" freeTextQuery: String, "Number of items per page [Default: 25, Max: 3000]" size: Int, "Opaque cursor for pagination" cursor: String): KnownDrugs "Target-disease associations calculated on-the-fly using configurable data source weights and evidence filters. Returns associations with aggregated scores and evidence counts supporting the target-disease relationship." associatedDiseases( "List of disease or target IDs" Bs: [String!], "Utilize the target interactions to retrieve all diseases associated with them and capture their respective evidence." enableIndirect: Boolean, "List of datasource settings" datasources: [DatasourceSettingsInput!], "Whether to include measurements in the response" includeMeasurements: Boolean, "List of the facet IDs to filter by (using AND)" facetFilters: [String!], "Filter to apply to the ids with string prefixes" BFilter: String, "Ordering for the associations. Accepts a string with two words separated by a space. The first word is the column to sort by: either `score` to use the overall association score (default), a datasource id (e.g., `impc`), or a datatype id (e.g., `animal_model`). The second word is the order: `desc` (default) or `asc`." orderByScore: String, "Pagination settings with index and size" page: Pagination): AssociatedDiseases! "Target-specific properties used to prioritise targets for further investigation. Prioritisation factors cover several areas around clinical precedence, tractability, do-ability, and safety of the target. Values range from -1 (unfavourable/deprioritised) to 1 (favourable/prioritised)." prioritisation: KeyValueArray "Flag indicating whether this target is essential based on CRISPR screening data from cancer cell line models. Essential genes are those that show dependency when knocked out in cellular models." isEssential: Boolean "Essentiality measurements extracted from DepMap, stratified by tissue or anatomical units. Gene essentiality is assessed based on dependencies exhibited when knocking out genes in cancer cellular models using CRISPR screenings from the Cancer Dependency Map (DepMap) Project. Gene effects below -1 can be considered dependencies." depMapEssentiality: [DepMapEssentiality!] "Pharmacogenomics data linking genetic variants affecting this target to drug responses. Data is integrated from sources including ClinPGx and describes how genetic variants influence individual drug responses when targeting this gene product." pharmacogenomics( "Pagination settings with index and size" page: Pagination): [Pharmacogenomics!]! "Protein coding coordinates linking variants affecting this target to their amino acid-level consequences in protein products. Describes variant consequences at the protein level including amino acid changes and their positions for this target." proteinCodingCoordinates( "Pagination settings with index and size" page: Pagination): ProteinCodingCoordinates! } "Target classification categories from ChEMBL" type TargetClass { "Label for the target class" label: String! "Hierarchical level of the target class" level: String! "Unique identifier for the target class" id: Long! } "Target Enabling Package (TEP) information" type Tep { "Description of the TEP target" description: String! "Ensembl gene ID for the TEP target" name: String! "URL linking to more information on the TEP target" uri: String! "Therapeutic area associated with the TEP target" therapeuticArea: String! } "Baseline RNA and protein expression data across tissues. This data does not contain raw expression values, instead to shows how targets are selectively expressed across different tissues. This dataset combines expression values from multiple sources including Expression Atlas and Human Protein Atlas." type Tissue { "List of anatomical systems that the biosample can be found in" anatomicalSystems: [String!]! "Name of the biosample the expression data is from" label: String! "UBERON id" id: String! "List of organs that the biosample can be found in" organs: [String!]! } "Tractability information for the target. Indicates the feasibility of targeting the gene/protein with different therapeutic modalities." type Tractability { "Modality of the tractability assessment" modality: String! "Tractability value assigned to the target (true indicates tractable)" value: Boolean! "Tractability category label" label: String! } "Predicted consequences of the variant on transcript context" type TranscriptConsequence { "Ensembl transcript identifier [bioregistry:ensembl]" transcriptId: String "Codons affected by the variant" codons: String "Distance from the variant to the transcription start site" distanceFromTss: Int! "Whether this is the canonical transcript according to Ensembl" isEnsemblCanonical: Boolean! "Score indicating the severity of the consequence" consequenceScore: Float! "Amino acid change caused by the variant" aminoAcidChange: String "Loss-of-function transcript effect estimator (LOFTEE) prediction" lofteePrediction: String "PolyPhen score predicting the impact of the variant on protein structure" polyphenPrediction: Float "Distance from the variant to the footprint region" distanceFromFootprint: Int! "UniProt protein accessions for the transcript [bioregistry:uniprot]" uniprotAccessions: [String!] "Impact assessment of the variant (e.g., HIGH, MODERATE, LOW)" impact: String "Index of the transcript" transcriptIndex: Long! "SIFT score predicting whether the variant affects protein function" siftPrediction: Float "The target (gene/protein) associated with the transcript" target: Target "The sequence ontology term of the consequence of the variant based on Ensembl VEP in the context of the transcript" variantConsequences: [SequenceOntologyTerm!]! } "Source URL for clinical trials, FDA and package inserts" type URL { "List of web addresses that support the drug/indication pair" url: String! "List of human readable names for the reference source" name: String! } "Core variant information for all variants in the Platform. Variants are included if any phenotypic information is available for the variant, including GWAS or molQTL credible sets, ClinVar, Uniprot or ClinPGx. The dataset includes variant metadata as well as variant effects derived from Ensembl VEP." type Variant { "The list of cross-references for the variant in different databases" dbXrefs: [DbXref!] "The chromosome on which the variant is located" chromosome: String! "Short summary of the variant effect" variantDescription: String! "The position on the chromosome of the variant" position: Int! "The allele frequencies of the variant in different populations" alleleFrequencies: [AlleleFrequency!] "Predicted consequences on transcript context" transcriptConsequences: [TranscriptConsequence!] "HGVS identifier of the variant" hgvsId: String "List of predicted or measured effects of the variant based on various methods" variantEffect: [VariantEffect!] "The unique identifier for the variant following schema CHR_POS_REF_ALT for SNPs and short indels (e.g. 1_154453788_C_T)" id: String! "The list of rsId identifiers for the variant" rsIds: [String!] "The alternate allele for the variant" alternateAllele: String! "The reference allele for the variant" referenceAllele: String! "The sequence ontology term of the most severe consequence of the variant based on Ensembl VEP" mostSevereConsequence: SequenceOntologyTerm "95% credible sets for GWAS and molQTL studies that contain this variant. Credible sets include all variants in the credible set (locus) as well as the fine-mapping method and derived statistics." credibleSets( "Pagination settings with index and size" page: Pagination, "Study types" studyTypes: [StudyTypeEnum!]): CredibleSets! "Pharmacogenomics data linking this genetic variant to drug responses. Data is integrated from sources including ClinPGx and describes how genetic variants influence individual drug responses." pharmacogenomics( "Pagination settings with index and size" page: Pagination): [Pharmacogenomics!]! "Target-disease evidence from all data sources where this variant supports the association. Evidence entries report associations between targets (genes or proteins) and diseases or phenotypes, scored according to confidence in the association." evidences( "List of datasource ids" datasourceIds: [String!], "Number of items per page [Default: 25, Max: 3000]" size: Int, "Opaque cursor for pagination" cursor: String): Evidences! "Protein coding coordinates linking this variant to its amino acid-level consequences in protein products. Describes variant consequences at the protein level including amino acid changes and their positions." proteinCodingCoordinates( "Pagination settings with index and size" page: Pagination): ProteinCodingCoordinates! "Regulatory enhancer/promoter regions to gene (target) predictions overlapping with this variant's location. These intervals link regulatory regions to target genes based on experimental data for specific tissues or cell types." intervals( "Pagination settings with index and size" page: Pagination): Intervals! } "Genetic variants influencing individual drug responses. Pharmacogenetics data is integrated from sources including Pharmacogenomics Knowledgebase (PharmGKB)." type VariantAnnotation { "Indicates in which direction the genetic variant increases or decreases drug response" directionality: String "Allele or genotype in the comparison case." comparisonAlleleOrGenotype: String "Allele observed effect." effect: String "PubMed identifier (PMID) of the literature entry" literature: String "Entity affected by the effect." entity: String "Summary of the impact of the allele on the drug response." effectDescription: String "Type of effect." effectType: String "Allele or genotype in the base case." baseAlleleOrGenotype: String } "Predicted or measured effect of the variant based on various methods" type VariantEffect { "Method used to predict or measure the variant effect (e.g. VEP, SIFT, GERP, AlphaMissense, FoldX)" method: String "Flag indicating the reliability of the assessment" assessmentFlag: String "Score indicating the severity or impact of the variant effect" score: Float "Assessment of the variant effect" assessment: String "Normalised score for the variant effect" normalisedScore: Float "The target (gene/protein) on which the variant effect is interpreted" target: Target } "Assays used in the study" type assays { "Description of the assay" description: String "Short name of the assay" shortName: String "Indicating if the assay was positive or negative for the target" isHit: Boolean } "List of biomarkers associated with evidence" type biomarkers { "List of gene expression altering biomarkers" geneExpression: [BiomarkerGeneExpression!] "List of genetic variation biomarkers" geneticVariation: [geneticVariation!] } "List of genetic variation biomarkers" type geneticVariation { "Variation identifier" id: String "Name of the variant biomarker" name: String "Functional consequence identifier of the variant biomarker [bioregistry:so]" functionalConsequenceId: SequenceOntologyTerm }