AllelePhenotypeAnnotation
An annotation asserting an association between an allele and a phenotype supported by evidence.
classDiagram
PhenotypeAnnotation <|-- AllelePhenotypeAnnotation
AllelePhenotypeAnnotation : asserted_genes
AllelePhenotypeAnnotation : condition_relations
AllelePhenotypeAnnotation : created_by
AllelePhenotypeAnnotation : cross_reference
AllelePhenotypeAnnotation : curie
AllelePhenotypeAnnotation : data_provider
AllelePhenotypeAnnotation : data_provider_cross_reference
AllelePhenotypeAnnotation : date_created
AllelePhenotypeAnnotation : date_updated
AllelePhenotypeAnnotation : db_date_created
AllelePhenotypeAnnotation : db_date_updated
AllelePhenotypeAnnotation : inferred_gene
AllelePhenotypeAnnotation : internal
AllelePhenotypeAnnotation : mod_internal_id
AllelePhenotypeAnnotation : obsolete
AllelePhenotypeAnnotation : phenotype_annotation_object
AllelePhenotypeAnnotation : phenotype_annotation_subject
AllelePhenotypeAnnotation : phenotype_terms
AllelePhenotypeAnnotation : primary_external_id
AllelePhenotypeAnnotation : related_notes
AllelePhenotypeAnnotation : relation
AllelePhenotypeAnnotation : single_reference
AllelePhenotypeAnnotation : unique_id
AllelePhenotypeAnnotation : updated_by
URI: alliance:AllelePhenotypeAnnotation
Parent Classes
- AuditedObject
- Association
- SingleReferenceAssociation
- Annotation
- PhenotypeAnnotation
- AllelePhenotypeAnnotation
- PhenotypeAnnotation
- Annotation
- SingleReferenceAssociation
- Association
Slots
Name | Description |
---|---|
asserted_genes | The gene(s) to which something is manually asserted to be associated. |
condition_relations | None |
created_by | The individual that created the entity. |
cross_reference | None |
curie | A unique identifier for a thing. Must be either a CURIE shorthand for a URI or a complete URI |
data_provider | The organization (e.g. MOD) from which the data was sourced |
data_provider_cross_reference | CrossReference to the organization from which the data was sourced |
date_created | The date of curation at the source (MOD) database. |
date_updated | Date on which an entity was last modified. |
db_date_created | The date on which an entity was created in the Alliance database. This is distinct from date_created, which represents the date when the entity was originally created (i.e. at the MOD for imported data). |
db_date_updated | Date on which an entity was last modified in the Alliance database. This is distinct from date_updated, which represents the date when the entity was last modified and may predate import into the Alliance database. |
inferred_gene | The gene to which the phenotype is inferred to be associated. |
internal | Classifies the entity as private (for internal use) or not (for public use). |
mod_internal_id | The model organism database (MOD) internal identifier for the object |
obsolete | Entity is no longer current. |
phenotype_annotation_object | phenotype statement: The label of an individual phenotype term from a phenotype ontology or the post-composed statement of the phenotype from a post-composed terminology |
phenotype_annotation_subject | The allele to which the phenotype ontology term is associated. |
phenotype_terms | The phenotype ontology term used to describe the phenotype of an organism or a set of organisms. |
primary_external_id | The primary external (non-Alliance) database identifier/curie for the object. Note that this may be an external (non-Alliance member) identifier for an object, like a UniProt ID for a protein, and may act as the MOD's/Alliance member's primary key for the entity. |
related_notes | Valid note types are available for viewing in the A-Team curation tool Controlled Vocabulary Terms Table (in the "Phenotype annotation note types" vocabulary) on the production environment (curation.alliancegenome.org). New terms can be added as needed. |
relation | A high-level grouping for the relationship type. This is analogous to category for nodes. In RDF, this corresponds to rdf:predicate and in Neo4j this corresponds to the relationship type. |
single_reference | The reference in which the phenotype association was asserted/reported. |
unique_id | A non-curie unique identifier for a thing. |
updated_by | The individual that last modified the entity. |
Mappings
Mapping Type | Mapped Value |
---|---|
self | ['alliance:AllelePhenotypeAnnotation'] |
native | ['alliance:AllelePhenotypeAnnotation'] |
LinkML Specification
Direct
name: AllelePhenotypeAnnotation
description: An annotation asserting an association between an allele and a phenotype
supported by evidence.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
is_a: PhenotypeAnnotation
slots:
- inferred_gene
- asserted_genes
slot_usage:
phenotype_annotation_subject:
name: phenotype_annotation_subject
description: The allele to which the phenotype ontology term is associated.
domain_of:
- PhenotypeAnnotation
range: Allele
inferred_gene:
name: inferred_gene
description: The gene to which the phenotype is inferred to be associated.
domain_of:
- AllelePhenotypeAnnotation
- AGMPhenotypeAnnotation
- AlleleDiseaseAnnotation
- AGMDiseaseAnnotation
range: Gene
required: false
asserted_genes:
name: asserted_genes
domain_of:
- AllelePhenotypeAnnotation
- AGMPhenotypeAnnotation
- AlleleDiseaseAnnotation
- AGMDiseaseAnnotation
required: false
asserted_allele:
name: asserted_allele
required: false
Induced
name: AllelePhenotypeAnnotation
description: An annotation asserting an association between an allele and a phenotype
supported by evidence.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
is_a: PhenotypeAnnotation
slot_usage:
phenotype_annotation_subject:
name: phenotype_annotation_subject
description: The allele to which the phenotype ontology term is associated.
domain_of:
- PhenotypeAnnotation
range: Allele
inferred_gene:
name: inferred_gene
description: The gene to which the phenotype is inferred to be associated.
domain_of:
- AllelePhenotypeAnnotation
- AGMPhenotypeAnnotation
- AlleleDiseaseAnnotation
- AGMDiseaseAnnotation
range: Gene
required: false
asserted_genes:
name: asserted_genes
domain_of:
- AllelePhenotypeAnnotation
- AGMPhenotypeAnnotation
- AlleleDiseaseAnnotation
- AGMDiseaseAnnotation
required: false
asserted_allele:
name: asserted_allele
required: false
attributes:
inferred_gene:
name: inferred_gene
description: The gene to which the phenotype is inferred to be associated.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
alias: inferred_gene
owner: AllelePhenotypeAnnotation
domain_of:
- AllelePhenotypeAnnotation
- AGMPhenotypeAnnotation
- AlleleDiseaseAnnotation
- AGMDiseaseAnnotation
range: Gene
required: false
asserted_genes:
name: asserted_genes
description: The gene(s) to which something is manually asserted to be associated.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
singular_name: asserted_gene
multivalued: true
alias: asserted_genes
owner: AllelePhenotypeAnnotation
domain_of:
- AllelePhenotypeAnnotation
- AGMPhenotypeAnnotation
- AlleleDiseaseAnnotation
- AGMDiseaseAnnotation
range: Gene
required: false
phenotype_annotation_subject:
name: phenotype_annotation_subject
description: The allele to which the phenotype ontology term is associated.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
domain: PhenotypeAnnotation
alias: phenotype_annotation_subject
owner: AllelePhenotypeAnnotation
domain_of:
- PhenotypeAnnotation
range: Allele
required: true
phenotype_terms:
name: phenotype_terms
description: The phenotype ontology term used to describe the phenotype of an
organism or a set of organisms.
examples:
- value: HP:0002487
description: Hyperkinesis
- value: WBPhenotype:0000180
description: axon morphology variant
- value: MP:0001569
description: abnormal circulating bilirubin level
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
values_from:
- HP
- MP
- WBPhenotype
- ZP
- APO
- FBcv
multivalued: true
alias: phenotype_terms
owner: AllelePhenotypeAnnotation
domain_of:
- PhenotypeAnnotation
range: PhenotypeTerm
cross_reference:
name: cross_reference
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
multivalued: false
alias: cross_reference
owner: AllelePhenotypeAnnotation
domain_of:
- PhenotypeAnnotation
- ExpressionExperiment
range: CrossReference
inlined: true
phenotype_annotation_object:
name: phenotype_annotation_object
description: 'phenotype statement: The label of an individual phenotype term from
a phenotype ontology or the post-composed statement of the phenotype from a
post-composed terminology'
from_schema: https://github.com/alliance-genome/agr_persistent_schema/phenotypeAndDiseaseAnnotation.yaml
alias: phenotype_annotation_object
owner: AllelePhenotypeAnnotation
domain_of:
- PhenotypeAnnotation
range: string
required: true
curie:
name: curie
description: A unique identifier for a thing. Must be either a CURIE shorthand
for a URI or a complete URI
from_schema: https://github.com/alliance-genome/agr_curation_schema/core.yaml
multivalued: false
alias: curie
owner: AllelePhenotypeAnnotation
domain_of:
- CurieObject
- Identifier
- OntologyTerm
- Laboratory
- Annotation
- ExternalDataBaseEntityDTO
- GeneNomenclatureSet
range: uriorcurie
unique_id:
name: unique_id
description: A non-curie unique identifier for a thing.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
multivalued: false
alias: unique_id
owner: AllelePhenotypeAnnotation
domain_of:
- Reagent
- Exon
- CodingSequence
- Person
- Annotation
- ExperimentalCondition
- ConditionRelation
- ExpressionExperiment
- GeneInteraction
range: string
primary_external_id:
name: primary_external_id
description: The primary external (non-Alliance) database identifier/curie for
the object. Note that this may be an external (non-Alliance member) identifier
for an object, like a UniProt ID for a protein, and may act as the MOD's/Alliance
member's primary key for the entity.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
alias: primary_external_id
owner: AllelePhenotypeAnnotation
domain_of:
- SubmittedObject
- SubmittedObjectDTO
- Person
- Annotation
- AnnotationDTO
range: string
mod_internal_id:
name: mod_internal_id
description: The model organism database (MOD) internal identifier for the object
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
alias: mod_internal_id
owner: AllelePhenotypeAnnotation
domain_of:
- SubmittedObject
- SubmittedObjectDTO
- Annotation
- AnnotationDTO
range: string
condition_relations:
name: condition_relations
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
multivalued: true
alias: condition_relations
owner: AllelePhenotypeAnnotation
domain_of:
- Annotation
- ExpressionExperiment
range: ConditionRelation
related_notes:
name: related_notes
description: Valid note types are available for viewing in the A-Team curation
tool Controlled Vocabulary Terms Table (in the "Phenotype annotation note types"
vocabulary) on the production environment (curation.alliancegenome.org). New
terms can be added as needed.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
multivalued: true
alias: related_notes
owner: AllelePhenotypeAnnotation
domain_of:
- Allele
- Antibody
- ConstructComponentSlotAnnotation
- ConstructGenomicEntityAssociation
- Gene
- GeneChangeEventSlotAnnotation
- Annotation
- Variant
- HTPExpressionDatasetSampleAnnotation
- ExpressionExperiment
range: Note
data_provider:
name: data_provider
description: The organization (e.g. MOD) from which the data was sourced
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
multivalued: false
alias: data_provider
owner: AllelePhenotypeAnnotation
domain_of:
- SubmittedObject
- Chromosome
- Species
- Annotation
- HTPExpressionDatasetAnnotation
range: Organization
required: true
data_provider_cross_reference:
name: data_provider_cross_reference
description: CrossReference to the organization from which the data was sourced
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
multivalued: false
alias: data_provider_cross_reference
owner: AllelePhenotypeAnnotation
domain_of:
- SubmittedObject
- Chromosome
- Species
- Annotation
- HTPExpressionDatasetAnnotation
range: CrossReference
required: false
single_reference:
name: single_reference
description: The reference in which the phenotype association was asserted/reported.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
multivalued: false
alias: single_reference
owner: AllelePhenotypeAnnotation
domain_of:
- SingleReferenceAssociation
- Figure
- ConditionRelation
- SourceVariantGenomicLocationAssociation
- SourceVariantTranscriptLocationAssociation
- SourceVariantPolypeptideLocationAssociation
- GeneToGeneOrthologyCurated
- ExpressionExperiment
- FunctionalGeneSet
range: Reference
required: true
relation:
name: relation
description: A high-level grouping for the relationship type. This is analogous
to category for nodes. In RDF, this corresponds to rdf:predicate and in Neo4j
this corresponds to the relationship type.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
is_a: association_slot
alias: relation
owner: AllelePhenotypeAnnotation
domain_of:
- ConstructComponentSlotAnnotation
- Association
range: string
required: true
created_by:
name: created_by
description: The individual that created the entity.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
domain: AuditedObject
multivalued: false
alias: created_by
owner: AllelePhenotypeAnnotation
domain_of:
- AuditedObject
range: Person
date_created:
name: date_created
description: The date of curation at the source (MOD) database.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
multivalued: false
alias: date_created
owner: AllelePhenotypeAnnotation
domain_of:
- AuditedObject
- AuditedObjectDTO
range: datetime
required: true
updated_by:
name: updated_by
description: The individual that last modified the entity.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
domain: AuditedObject
multivalued: false
alias: updated_by
owner: AllelePhenotypeAnnotation
domain_of:
- AuditedObject
range: Person
date_updated:
name: date_updated
description: Date on which an entity was last modified.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
aliases:
- date_last_modified
alias: date_updated
owner: AllelePhenotypeAnnotation
domain_of:
- AuditedObject
- AuditedObjectDTO
range: datetime
db_date_created:
name: db_date_created
description: The date on which an entity was created in the Alliance database. This
is distinct from date_created, which represents the date when the entity was
originally created (i.e. at the MOD for imported data).
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
alias: db_date_created
owner: AllelePhenotypeAnnotation
domain_of:
- AuditedObject
- AuditedObjectDTO
range: datetime
db_date_updated:
name: db_date_updated
description: Date on which an entity was last modified in the Alliance database. This
is distinct from date_updated, which represents the date when the entity was
last modified and may predate import into the Alliance database.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
alias: db_date_updated
owner: AllelePhenotypeAnnotation
domain_of:
- AuditedObject
- AuditedObjectDTO
range: datetime
internal:
name: internal
description: Classifies the entity as private (for internal use) or not (for public
use).
notes:
- Default value is true.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
alias: internal
owner: AllelePhenotypeAnnotation
domain_of:
- AuditedObject
- AuditedObjectDTO
range: boolean
required: true
obsolete:
name: obsolete
description: Entity is no longer current.
notes:
- Obsolete entities are preserved in the database for posterity but should not
be publicly displayed.
from_schema: https://github.com/alliance-genome/agr_curation_schema/alliance_schema
alias: obsolete
owner: AllelePhenotypeAnnotation
domain_of:
- AuditedObject
- AuditedObjectDTO
range: boolean