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Class: GeneToDiseaseAssociation

URI: biolink:GeneToDiseaseAssociation

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

Inheritance

Slots

Name Cardinality and Range Description Inheritance
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
gene in which variation is correlated with the disease, may be protective or ... 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

Comments

  • NCIT:R176 refers to the inverse relationship

Identifier and Mapping Information

Schema Source

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

Mappings

Mapping Type Mapped Value
self biolink:GeneToDiseaseAssociation
native biolink:GeneToDiseaseAssociation
exact SIO:000983
close dcid:DiseaseGeneAssociation

LinkML Source

Direct

name: gene to disease association
comments:
- NCIT:R176 refers to the inverse relationship
from_schema: https://w3id.org/biolink/biolink-model
exact_mappings:
- SIO:000983
close_mappings:
- dcid:DiseaseGeneAssociation
is_a: gene to disease or phenotypic feature association
mixins:
- entity to disease association mixin
- gene to entity association mixin
slot_usage:
  subject:
    name: subject
    description: gene in which variation is correlated with the disease, may be protective
      or causative or associative, or as a model
    domain_of:
    - association
    range: gene or gene product
  object:
    name: object
    domain_of:
    - association
    range: disease
defining_slots:
- subject
- object