Class: gene has variant that contributes to disease association

URI: http://w3id.org/biolink/vocab/GeneHasVariantThatContributesToDiseaseAssociation

Mappings

Inheritance

• is_a: GeneToDiseaseAssociation

  Children

Used in

Fields

• gene has variant that contributes to disease association.subject
  • Description: A gene that has a role in modeling the disease. This may be a model organism ortholog of a known disease gene, or it may be a gene whose mutants recapitulate core features of the disease.
  • range: GeneOrGeneProduct [required]
  • Local
• sequence variant qualifier
  • Description: a qualifier used in an association where the variant
  • range: SequenceVariant
  • Local
• association slot
  • Description: any slot that relates an association to another entity
  • range: string
  • inherited from: Association
• association type
  • Description: connects an association to the type of association (e.g. gene to phenotype)
  • range: OntologyClass
  • inherited from: Association
• category subsets: (translator_minimal)
  • Description: Name of the high level ontology class in which this entity is categorized. Corresponds to the label for the biolink entity type class. In a neo4j database this MAY correspond to the neo4j label tag
  • range: IriType*
  • inherited from: NamedThing
• description subsets: (translator_minimal)
  • Description: a human-readable description of a thing
  • range: NarrativeText
  • inherited from: NamedThing
• full name
  • Description: a long-form human readable name for a thing
  • range: LabelType
  • inherited from: NamedThing
• id subsets: (translator_minimal)
  • Description: A unique identifier for a thing. Must be either a CURIE shorthand for a URI or a complete URI
  • range: IdentifierType
  • inherited from: NamedThing
• iri subsets: (translator_minimal)
  • Description: An IRI for the node. This is determined by the id using expansion rules.
  • range: IriType
  • inherited from: NamedThing
• name subsets: (translator_minimal)
  • Description: A human-readable name for a thing
  • range: LabelType
  • inherited from: NamedThing
• negated
  • Description: if set to true, then the association is negated i.e. is not true
  • range: boolean
  • inherited from: Association
• node property
  • Description: A grouping for any property that holds between a node and a value
  • range: string
  • inherited from: NamedThing
• object
  • Description: connects an association to the object of the association. For example, in a gene-to-phenotype association, the gene is subject and phenotype is object.
  • range: string [required]
  • inherited from: Association
• onset qualifier
  • Description: a qualifier used in a phenotypic association to state when the phenotype appears is in the subject
  • range: Onset
  • inherited from: EntityToFeatureOrDiseaseQualifiers
• provided by
  • Description: connects an association to the agent (person, organization or group) that provided it
  • range: Provider
  • inherited from: Association
• publications
  • Description: connects an association to publications supporting the association
  • range: Publication*
  • inherited from: Association
• qualifiers
  • Description: connects an association to qualifiers that modify or qualify the meaning of that association
  • range: OntologyClass*
  • inherited from: Association
• related to
  • Description: A grouping for any relationship type that holds between any two things
  • range: NamedThing
  • inherited from: NamedThing
• relation
  • Description: the relationship type by which a subject is connected to an object in an association
  • range: RelationshipType [required]
  • inherited from: Association
• severity qualifier
  • Description: a qualifier used in a phenotypic association to state how severe the phenotype is in the subject
  • range: SeverityValue
  • inherited from: EntityToFeatureOrDiseaseQualifiers
• systematic synonym
  • Description: more commonly used for gene symbols in yeast
  • range: LabelType
  • inherited from: NamedThing