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