gene_to_disease_association_config.yaml

# metamodel_version: 1.7.0# version: 3.0.3id: gene_to_disease_association
schema_generating: true
display_name: gene to disease association
document_category: gene 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: subject
  description: gene in which variation is correlated with the disease, may be protective
    or causative or associative, or as a model
  display_name: gene to disease association_subject
- 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