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Class: GenotypeToDiseaseAssociation

URI: biolink:GenotypeToDiseaseAssociation

classDiagram class GenotypeToDiseaseAssociation GenotypeToEntityAssociationMixin <|-- GenotypeToDiseaseAssociation EntityToDiseaseAssociationMixin <|-- GenotypeToDiseaseAssociation Association <|-- GenotypeToDiseaseAssociation GenotypeToDiseaseAssociation <|-- GenotypeAsAModelOfDiseaseAssociation GenotypeToDiseaseAssociation : aggregator_knowledge_source GenotypeToDiseaseAssociation : category GenotypeToDiseaseAssociation : description GenotypeToDiseaseAssociation : frequency_qualifier GenotypeToDiseaseAssociation : has_attribute GenotypeToDiseaseAssociation --|> attribute : has_attribute GenotypeToDiseaseAssociation : has_evidence GenotypeToDiseaseAssociation --|> evidence type : has_evidence GenotypeToDiseaseAssociation : id GenotypeToDiseaseAssociation : iri GenotypeToDiseaseAssociation : knowledge_source GenotypeToDiseaseAssociation : name GenotypeToDiseaseAssociation : negated GenotypeToDiseaseAssociation : object GenotypeToDiseaseAssociation --|> disease : object GenotypeToDiseaseAssociation : object_category GenotypeToDiseaseAssociation --|> ontology class : object_category GenotypeToDiseaseAssociation : object_category_closure GenotypeToDiseaseAssociation --|> ontology class : object_category_closure GenotypeToDiseaseAssociation : object_closure GenotypeToDiseaseAssociation : object_label_closure GenotypeToDiseaseAssociation : object_namespace GenotypeToDiseaseAssociation : onset_qualifier GenotypeToDiseaseAssociation --|> onset : onset_qualifier GenotypeToDiseaseAssociation : original_object GenotypeToDiseaseAssociation : original_predicate GenotypeToDiseaseAssociation : original_subject GenotypeToDiseaseAssociation : predicate GenotypeToDiseaseAssociation : primary_knowledge_source GenotypeToDiseaseAssociation : publications GenotypeToDiseaseAssociation --|> publication : publications GenotypeToDiseaseAssociation : qualifiers GenotypeToDiseaseAssociation --|> ontology class : qualifiers GenotypeToDiseaseAssociation : retrieval_source_ids GenotypeToDiseaseAssociation --|> retrieval source : retrieval_source_ids GenotypeToDiseaseAssociation : severity_qualifier GenotypeToDiseaseAssociation --|> severity value : severity_qualifier GenotypeToDiseaseAssociation : subject GenotypeToDiseaseAssociation --|> genotype : subject GenotypeToDiseaseAssociation : subject_category GenotypeToDiseaseAssociation --|> ontology class : subject_category GenotypeToDiseaseAssociation : subject_category_closure GenotypeToDiseaseAssociation --|> ontology class : subject_category_closure GenotypeToDiseaseAssociation : subject_closure GenotypeToDiseaseAssociation : subject_label_closure GenotypeToDiseaseAssociation : subject_namespace GenotypeToDiseaseAssociation : timepoint GenotypeToDiseaseAssociation : type

Inheritance

Slots

Name Cardinality and Range Description Inheritance
subject 1..1
Genotype
a genotype that is associated in some way with a disease state Association
predicate 1..1
PredicateType
E Association
object 1..1
Disease
a disease that is associated with that genotype 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
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

  • TODO decide no how to model pathogenicity

Identifier and Mapping Information

Schema Source

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

Mappings

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

LinkML Source

Direct

name: genotype to disease association
comments:
- TODO decide no how to model pathogenicity
from_schema: https://w3id.org/biolink/biolink-model
is_a: association
mixins:
- genotype to entity association mixin
- entity to disease association mixin
slot_usage:
  subject:
    name: subject
    description: a genotype that is associated in some way with a disease state
    domain_of:
    - association
  predicate:
    name: predicate
    description: E.g. is pathogenic for
    domain_of:
    - predicate mapping
    - association
    subproperty_of: related condition
  object:
    name: object
    description: a disease that is associated with that genotype
    examples:
    - value: MONDO:0016419
      description: hereditary breast cancer
    domain_of:
    - association
defining_slots:
- subject
- object