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Merge pull request #1695 from biolink/g2p-confidence
add temp G2P slot to attributes.yaml, GeneToDiseaseAssociation
2 parents 0a430bf + 1e0dbb4 commit ed57944

15 files changed

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attributes.yaml

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@@ -251,3 +251,10 @@ slots:
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It is based on different inputs for curated knowledge associations vs text-mined associations vs experimental/GWAS based associations,
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but adjusts/caps scores for these types of knowledge such that they are comparable on a single scale.
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range: float
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gene2phenotype confidence category:
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description: >-
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A term used by EBI Gene2Phenotype to describe the confidence that the association is real.
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GenCC confidence terms are used for different levels of confidence (enum).
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See https://www.ebi.ac.uk/gene2phenotype/about/terminology#g2p-confidence-section.
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range: string

biolink-model.yaml

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@@ -11576,6 +11576,7 @@ classes:
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- allelic requirement
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- qualified predicate
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- diseases confidence score
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- gene2phenotype confidence category
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slot_usage:
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subject:
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range: gene or gene product

project/graphql/biolink_model.graphql

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@@ -4027,6 +4027,7 @@ type DruggableGeneToDiseaseAssociation implements EntityToDiseaseAssociationMixi
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allelicRequirement: String
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qualifiedPredicate: Uriorcurie
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diseasesConfidenceScore: Float
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gene2phenotypeConfidenceCategory: String
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object: Disease!
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druggableGeneCategory: DruggableGeneCategoryEnum
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subject: GeneOrGeneProduct!
@@ -4966,6 +4967,7 @@ type GeneAsAModelOfDiseaseAssociation implements ModelToDiseaseAssociationMixin,
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allelicRequirement: String
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qualifiedPredicate: Uriorcurie
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diseasesConfidenceScore: Float
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gene2phenotypeConfidenceCategory: String
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object: Disease!
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predicate: GeneToDiseasePredicateEnum!
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subject: GeneOrGeneProduct!
@@ -5116,6 +5118,7 @@ type GeneHasVariantThatContributesToDiseaseAssociation
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allelicRequirement: String
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qualifiedPredicate: Uriorcurie
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diseasesConfidenceScore: Float
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gene2phenotypeConfidenceCategory: String
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subjectFormOrVariantQualifier: String
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subject: GeneOrGeneProduct!
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object: Disease!
@@ -5362,6 +5365,7 @@ type GeneToDiseaseAssociation implements GeneToEntityAssociationMixin
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allelicRequirement: String
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qualifiedPredicate: Uriorcurie
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diseasesConfidenceScore: Float
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gene2phenotypeConfidenceCategory: String
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subject: GeneOrGeneProduct!
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object: Disease!
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predicate: GeneToDiseasePredicateEnum!

project/jsonld/biolink_model.context.jsonld

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{
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"comments": {
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"description": "Auto generated by LinkML jsonld context generator",
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"generation_date": "2026-01-30T16:18:42",
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"generation_date": "2026-02-04T06:39:36",
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"source": "biolink_model.yaml"
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},
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"@context": {
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"@type": "@id",
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"@id": "gene_product_of"
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},
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"gene2phenotype_confidence_category": {
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"@id": "gene2phenotype_confidence_category"
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},
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"gene_fusion_with": {
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"@type": "@id",
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"@id": "gene_fusion_with"

project/jsonld/biolink_model.jsonld

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"range": "float",
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"@type": "SlotDefinition"
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},
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{
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"name": "gene2phenotype_confidence_category",
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"definition_uri": "https://w3id.org/biolink/biolink-model/attributes/gene2phenotype_confidence_category",
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"description": "A term used by EBI Gene2Phenotype to describe the confidence that the association is real. GenCC confidence terms are used for different levels of confidence (enum). See https://www.ebi.ac.uk/gene2phenotype/about/terminology#g2p-confidence-section.",
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"from_schema": "https://w3id.org/biolink/biolink-model/attributes",
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"slot_uri": "https://w3id.org/biolink/vocab/gene2phenotype_confidence_category",
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"owner": "GeneToDiseaseAssociation",
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"domain_of": [
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"GeneToDiseaseAssociation"
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],
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"range": "string",
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"@type": "SlotDefinition"
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},
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{
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"name": "attribute_name",
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"definition_uri": "https://w3id.org/biolink/vocab/name",
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"allelic_requirement",
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"qualified_predicate",
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"diseases_confidence_score",
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"gene2phenotype_confidence_category",
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"gene_to_disease_association_subject",
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"gene_to_disease_association_object",
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"gene_to_disease_association_predicate"
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"allelic_requirement",
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"qualified_predicate",
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"diseases_confidence_score",
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"gene2phenotype_confidence_category",
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"gene_to_disease_association_object",
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"druggable_gene_category",
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"druggable_gene_to_disease_association_subject",
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"allelic_requirement",
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"qualified_predicate",
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"diseases_confidence_score",
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"gene2phenotype_confidence_category",
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"gene_to_disease_association_object",
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"gene_to_disease_association_predicate",
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"gene_as_a_model_of_disease_association_subject",
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"allelic_requirement",
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"qualified_predicate",
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"diseases_confidence_score",
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"gene2phenotype_confidence_category",
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"subject_form_or_variant_qualifier",
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"gene_has_variant_that_contributes_to_disease_association_subject",
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"gene_has_variant_that_contributes_to_disease_association_object",
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],
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"metamodel_version": "1.7.0",
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"source_file": "biolink_model.yaml",
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"source_file_date": "2026-01-30T16:18:38",
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"source_file_size": 459779,
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"generation_date": "2026-01-30T16:18:45",
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"source_file_date": "2026-02-04T06:39:32",
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"source_file_size": 459822,
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"generation_date": "2026-02-04T06:39:38",
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"@type": "SchemaDefinition",
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"@context": [
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"project/jsonld/biolink_model.context.jsonld",

project/jsonschema/biolink_model.schema.json

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"null"
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]
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},
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"gene2phenotype_confidence_category": {
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"description": "A term used by EBI Gene2Phenotype to describe the confidence that the association is real. GenCC confidence terms are used for different levels of confidence (enum). See https://www.ebi.ac.uk/gene2phenotype/about/terminology#g2p-confidence-section.",
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"type": [
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"string",
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"null"
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]
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},
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"has_attribute": {
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"description": "connects any entity to an attribute",
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"items": {
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"null"
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]
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},
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"gene2phenotype_confidence_category": {
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"description": "A term used by EBI Gene2Phenotype to describe the confidence that the association is real. GenCC confidence terms are used for different levels of confidence (enum). See https://www.ebi.ac.uk/gene2phenotype/about/terminology#g2p-confidence-section.",
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"type": [
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"string",
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"null"
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]
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},
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"has_attribute": {
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"description": "connects any entity to an attribute",
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"items": {
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"null"
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]
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},
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"gene2phenotype_confidence_category": {
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"description": "A term used by EBI Gene2Phenotype to describe the confidence that the association is real. GenCC confidence terms are used for different levels of confidence (enum). See https://www.ebi.ac.uk/gene2phenotype/about/terminology#g2p-confidence-section.",
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"type": [
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"string",
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"null"
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]
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},
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"has_attribute": {
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"description": "connects any entity to an attribute",
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"items": {
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"null"
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]
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},
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"gene2phenotype_confidence_category": {
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"description": "A term used by EBI Gene2Phenotype to describe the confidence that the association is real. GenCC confidence terms are used for different levels of confidence (enum). See https://www.ebi.ac.uk/gene2phenotype/about/terminology#g2p-confidence-section.",
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"type": [
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"string",
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"null"
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]
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},
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"has_attribute": {
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"description": "connects any entity to an attribute",
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"items": {

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