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gene_has_variant_that_contributes_to_disease_association_config.yaml
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gene_has_variant_that_contributes_to_disease_association_config.yaml
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# metamodel_version: 1.7.0# version: 3.0.3id: gene_has_variant_that_contributes_to_disease_association
schema_generating: true
display_name: gene has variant that contributes to disease association
document_category: gene has variant that contributes to disease association
weight: 20
fields:
- id: id
description: A unique identifier for an entity. Must be either a CURIE shorthand
for a URI or a complete URI
display_name: id
- id: iri
description: An IRI for an entity. This is determined by the id using expansion
rules.
display_name: iri
- id: name
description: A human-readable name for an attribute or entity.
display_name: name
- id: description
description: a human-readable description of an entity
display_name: description
- id: source
display_name: source
- id: has_attribute
description: connects any entity to an attribute
display_name: has attribute
cardinality: multi
- id: predicate
description: A high-level grouping for the relationship type. AKA minimal predicate.
This is analogous to category for nodes.
display_name: predicate
- id: negated
description: if set to true, then the association is negated i.e. is not true
display_name: negated
- id: qualifiers
description: connects an association to qualifiers that modify or qualify the meaning
of that association
display_name: qualifiers
cardinality: multi
- id: publications
description: connects an association to publications supporting the association
display_name: publications
cardinality: multi
- id: has_evidence
description: connects an association to an instance of supporting evidence
display_name: has evidence
cardinality: multi
- id: knowledge_source
description: An Information Resource from which the knowledge expressed in an Association
was retrieved, directly or indirectly. This can be any resource through which
the knowledge passed on its way to its currently serialized form. In practice,
implementers should use one of the more specific subtypes of this generic property.
display_name: knowledge source
- id: original_knowledge_source
display_name: original knowledge source
- id: primary_knowledge_source
description: The most upstream source of the knowledge expressed in an Association
that an implementer can identify. Performing a rigorous analysis of upstream
data providers is expected; every effort is made to catalog the most upstream
source of data in this property. Only one data source should be declared primary
in any association. "aggregator knowledge source" can be used to caputre non-primary
sources.
display_name: primary knowledge source
- id: aggregator_knowledge_source
description: An intermediate aggregator resource from which knowledge expressed
in an Association was retrieved downstream of the original source, on its path
to its current serialized form.
display_name: aggregator knowledge source
cardinality: multi
- id: timepoint
description: a point in time
display_name: timepoint
- id: type
description: rdf:type of biolink:Association should be fixed at rdf:Statement
display_name: association_type
- id: category
description: "Name of the high level ontology class in which this entity is categorized.\
\ Corresponds to the label for the biolink entity type class.\n * In a neo4j database\
\ this MAY correspond to the neo4j label tag.\n * In an RDF database it should\
\ be a biolink model class URI.\nThis field is multi-valued. It should include\
\ values for ancestors of the biolink class; for example, a protein such as Shh\
\ would have category values `biolink:Protein`, `biolink:GeneProduct`, `biolink:MolecularEntity`,\
\ ...\nIn an RDF database, nodes will typically have an rdf:type triples. This\
\ can be to the most specific biolink class, or potentially to a class more specific\
\ than something in biolink. For example, a sequence feature `f` may have a rdf:type\
\ assertion to a SO class such as TF_binding_site, which is more specific than\
\ anything in biolink. Here we would have categories {biolink:GenomicEntity, biolink:MolecularEntity,\
\ biolink:NamedThing}"
display_name: association_category
cardinality: multi
- id: 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.
display_name: gene to disease association_object
- id: frequency_qualifier
description: a qualifier used in a phenotypic association to state how frequent
the phenotype is observed in the subject
display_name: frequency qualifier
- id: severity_qualifier
description: a qualifier used in a phenotypic association to state how severe the
phenotype is in the subject
display_name: severity qualifier
- id: onset_qualifier
description: a qualifier used in a phenotypic association to state when the phenotype
appears is in the subject
display_name: onset qualifier
- id: sequence_variant_qualifier
description: a qualifier used in an association with the variant
display_name: sequence variant qualifier
- id: 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.
display_name: gene has variant that contributes to disease association_subject