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Class: GeneHasVariantThatContributesToDiseaseAssociation

URI: biolink:GeneHasVariantThatContributesToDiseaseAssociation

classDiagram class GeneHasVariantThatContributesToDiseaseAssociation GeneToDiseaseAssociation <|-- GeneHasVariantThatContributesToDiseaseAssociation GeneHasVariantThatContributesToDiseaseAssociation : aggregator_knowledge_source GeneHasVariantThatContributesToDiseaseAssociation : category GeneHasVariantThatContributesToDiseaseAssociation : description GeneHasVariantThatContributesToDiseaseAssociation : frequency_qualifier GeneHasVariantThatContributesToDiseaseAssociation : has_attribute GeneHasVariantThatContributesToDiseaseAssociation --|> attribute : has_attribute GeneHasVariantThatContributesToDiseaseAssociation : has_count GeneHasVariantThatContributesToDiseaseAssociation : has_evidence GeneHasVariantThatContributesToDiseaseAssociation --|> evidence type : has_evidence GeneHasVariantThatContributesToDiseaseAssociation : has_percentage GeneHasVariantThatContributesToDiseaseAssociation : has_quotient GeneHasVariantThatContributesToDiseaseAssociation : has_total GeneHasVariantThatContributesToDiseaseAssociation : id GeneHasVariantThatContributesToDiseaseAssociation : iri GeneHasVariantThatContributesToDiseaseAssociation : knowledge_source GeneHasVariantThatContributesToDiseaseAssociation : name GeneHasVariantThatContributesToDiseaseAssociation : negated GeneHasVariantThatContributesToDiseaseAssociation : object GeneHasVariantThatContributesToDiseaseAssociation --|> disease : object GeneHasVariantThatContributesToDiseaseAssociation : object_category GeneHasVariantThatContributesToDiseaseAssociation --|> ontology class : object_category GeneHasVariantThatContributesToDiseaseAssociation : object_category_closure GeneHasVariantThatContributesToDiseaseAssociation --|> ontology class : object_category_closure GeneHasVariantThatContributesToDiseaseAssociation : object_closure GeneHasVariantThatContributesToDiseaseAssociation : object_direction_qualifier GeneHasVariantThatContributesToDiseaseAssociation --|> DirectionQualifierEnum : object_direction_qualifier GeneHasVariantThatContributesToDiseaseAssociation : object_label_closure GeneHasVariantThatContributesToDiseaseAssociation : object_namespace GeneHasVariantThatContributesToDiseaseAssociation : onset_qualifier GeneHasVariantThatContributesToDiseaseAssociation --|> onset : onset_qualifier GeneHasVariantThatContributesToDiseaseAssociation : original_object GeneHasVariantThatContributesToDiseaseAssociation : original_predicate GeneHasVariantThatContributesToDiseaseAssociation : original_subject GeneHasVariantThatContributesToDiseaseAssociation : predicate GeneHasVariantThatContributesToDiseaseAssociation : primary_knowledge_source GeneHasVariantThatContributesToDiseaseAssociation : publications GeneHasVariantThatContributesToDiseaseAssociation --|> publication : publications GeneHasVariantThatContributesToDiseaseAssociation : qualifiers GeneHasVariantThatContributesToDiseaseAssociation --|> ontology class : qualifiers GeneHasVariantThatContributesToDiseaseAssociation : retrieval_source_ids GeneHasVariantThatContributesToDiseaseAssociation --|> retrieval source : retrieval_source_ids GeneHasVariantThatContributesToDiseaseAssociation : severity_qualifier GeneHasVariantThatContributesToDiseaseAssociation --|> severity value : severity_qualifier GeneHasVariantThatContributesToDiseaseAssociation : sex_qualifier GeneHasVariantThatContributesToDiseaseAssociation --|> biological sex : sex_qualifier GeneHasVariantThatContributesToDiseaseAssociation : subject GeneHasVariantThatContributesToDiseaseAssociation --|> gene or gene product : subject GeneHasVariantThatContributesToDiseaseAssociation : subject_aspect_qualifier GeneHasVariantThatContributesToDiseaseAssociation --|> GeneOrGeneProductOrChemicalEntityAspectEnum : subject_aspect_qualifier GeneHasVariantThatContributesToDiseaseAssociation : subject_category GeneHasVariantThatContributesToDiseaseAssociation --|> ontology class : subject_category GeneHasVariantThatContributesToDiseaseAssociation : subject_category_closure GeneHasVariantThatContributesToDiseaseAssociation --|> ontology class : subject_category_closure GeneHasVariantThatContributesToDiseaseAssociation : subject_closure GeneHasVariantThatContributesToDiseaseAssociation : subject_form_or_variant_qualifier GeneHasVariantThatContributesToDiseaseAssociation : subject_label_closure GeneHasVariantThatContributesToDiseaseAssociation : subject_namespace GeneHasVariantThatContributesToDiseaseAssociation : timepoint GeneHasVariantThatContributesToDiseaseAssociation : type

Inheritance

Slots

Name Cardinality and Range Description Inheritance
subject_form_or_variant_qualifier 0..1
String
direct
subject_aspect_qualifier 0..1
GeneOrGeneProductOrChemicalEntityAspectEnum
GeneToDiseaseOrPhenotypicFeatureAssociation
object_direction_qualifier 0..1
DirectionQualifierEnum
GeneToDiseaseOrPhenotypicFeatureAssociation
sex_qualifier 0..1
BiologicalSex
a qualifier used in a phenotypic association to state whether the association... EntityToPhenotypicFeatureAssociationMixin
subject 1..1
GeneOrGeneProduct
A gene that has a role in modeling the disease Association
predicate 1..1
PredicateType
A high-level grouping for the relationship type Association
object 1..1
Disease
disease Association
negated 0..1
Boolean
if set to true, then the association is negated i Association
qualifiers 0..*
OntologyClass
connects an association to qualifiers that modify or qualify the meaning of t... Association
publications 0..*
Publication
One or more publications that report the statement expressed in an Associati... Association
has_evidence 0..*
EvidenceType
connects an association to an instance of supporting evidence Association
knowledge_source 0..1
String
An Information Resource from which the knowledge expressed in an Association ... Association
primary_knowledge_source 0..1
String
The most upstream source of the knowledge expressed in an Association that an... Association
aggregator_knowledge_source 0..*
String
An intermediate aggregator resource from which knowledge expressed in an Asso... Association
timepoint 0..1
TimeType
a point in time Association
original_subject 0..1
String
used to hold the original subject of a relation (or predicate) that an extern... Association
original_predicate 0..1
Uriorcurie
used to hold the original relation/predicate that an external knowledge sourc... Association
original_object 0..1
String
used to hold the original object of a relation (or predicate) that an externa... Association
subject_category 0..1
OntologyClass
Used to hold the biolink class/category of an association Association
object_category 0..1
OntologyClass
Used to hold the biolink class/category of an association Association
subject_closure 0..*
String
Used to hold the subject closure of an association Association
object_closure 0..*
String
Used to hold the object closure of an association Association
subject_category_closure 0..*
OntologyClass
Used to hold the subject category closure of an association Association
object_category_closure 0..*
OntologyClass
Used to hold the object category closure of an association Association
subject_namespace 0..1
String
Used to hold the subject namespace of an association Association
object_namespace 0..1
String
Used to hold the object namespace of an association Association
subject_label_closure 0..*
String
Used to hold the subject label closure of an association Association
object_label_closure 0..*
String
Used to hold the object label closure of an association Association
retrieval_source_ids 0..*
RetrievalSource
A list of retrieval sources that served as a source of knowledge expressed in... Association
id 1..1
String
A unique identifier for an entity Entity
iri 0..1
IriType
An IRI for an entity Entity
category 0..*
CategoryType
Name of the high level ontology class in which this entity is categorized Entity
type 0..*
String
rdf:type of biolink:Association should be fixed at rdf:Statement Entity
name 0..1
LabelType
A human-readable name for an attribute or entity Entity
description 0..1
NarrativeText
a human-readable description of an entity Entity
has_attribute 0..*
Attribute
connects any entity to an attribute Entity
has_count 0..1
Integer
number of things with a particular property FrequencyQuantifier
has_total 0..1
Integer
total number of things in a particular reference set FrequencyQuantifier
has_quotient 0..1
Double
FrequencyQuantifier
has_percentage 0..1
Double
equivalent to has quotient multiplied by 100 FrequencyQuantifier
severity_qualifier 0..1
SeverityValue
a qualifier used in a phenotypic association to state how severe the phenotyp... EntityToFeatureOrDiseaseQualifiersMixin
onset_qualifier 0..1
Onset
a qualifier used in a phenotypic association to state when the phenotype appe... EntityToFeatureOrDiseaseQualifiersMixin
frequency_qualifier 0..1
FrequencyValue
a qualifier used in a phenotypic association to state how frequent the phenot... FrequencyQualifierMixin

Identifier and Mapping Information

Schema Source

  • from schema: https://w3id.org/biolink/biolink-model

Mappings

Mapping Type Mapped Value
self biolink:GeneHasVariantThatContributesToDiseaseAssociation
native biolink:GeneHasVariantThatContributesToDiseaseAssociation

LinkML Source

Direct

name: gene has variant that contributes to disease association
from_schema: https://w3id.org/biolink/biolink-model
is_a: gene to disease association
slots:
- subject form or variant qualifier
slot_usage:
  subject:
    name: 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.
    domain_of:
    - association
    range: gene or gene product
  object:
    name: object
    domain_of:
    - association
    range: disease
  predicate:
    name: predicate
    domain_of:
    - predicate mapping
    - association
    subproperty_of: contributes to
defining_slots:
- subject
- predicate
- object