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Class: VariantToDiseaseAssociation

URI: biolink:VariantToDiseaseAssociation

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

Inheritance

Slots

Name Cardinality and Range Description Inheritance
subject 1..1
SequenceVariant
a sequence variant in which the allele state is associated in some way with t... Association
predicate 1..1
PredicateType
E Association
object 1..1
Disease
a disease that is associated with that variant 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:VariantToDiseaseAssociation
native biolink:VariantToDiseaseAssociation

LinkML Source

Direct

name: variant to disease association
comments:
- TODO decide no how to model pathogenicity
from_schema: https://w3id.org/biolink/biolink-model
is_a: association
mixins:
- variant to entity association mixin
- entity to disease association mixin
slot_usage:
  subject:
    name: subject
    description: a sequence variant in which the allele state is associated in some
      way with the disease state
    examples:
    - value: CLINVAR:52241
      description: NM_000059.3(BRCA2):c.7007G>C (p.Arg2336Pro)
    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 variant
    examples:
    - value: MONDO:0016419
      description: hereditary breast cancer
    domain_of:
    - association
defining_slots:
- subject
- object