Class: Variant

URI: dismech:Variant

 classDiagram
    class Variant
    click Variant href "../Variant/"
      Variant : clinical_significance





        Variant --> "0..1" ClinicalSignificanceEnum : clinical_significance
        click ClinicalSignificanceEnum href "../ClinicalSignificanceEnum/"



      Variant : description

      Variant : evidence





        Variant --> "*" EvidenceItem : evidence
        click EvidenceItem href "../EvidenceItem/"



      Variant : functional_effects





        Variant --> "*" FunctionalEffect : functional_effects
        click FunctionalEffect href "../FunctionalEffect/"



      Variant : gene





        Variant --> "0..1" GeneDescriptor : gene
        click GeneDescriptor href "../GeneDescriptor/"



      Variant : identifiers

      Variant : name

      Variant : sequence_length

      Variant : synonyms

      Variant : type

Slots

Name	Cardinality and Range	Description	Inheritance
name	1 String		direct
description	0..1 String		direct
gene	0..1 GeneDescriptor		direct
evidence	* recommended EvidenceItem		direct
functional_effects	* FunctionalEffect		direct
synonyms	* String		direct
identifiers	* Uriorcurie		direct
sequence_length	0..1 Integer		direct
clinical_significance	0..1 ClinicalSignificanceEnum		direct
type	0..1 String		direct

Usages

used by	used in	type	used
Genetic	variants	range	Variant
Disease	variants	range	Variant

Identifier and Mapping Information

Schema Source

• from schema: https://w3id.org/monarch-initiative/dismech

Mappings

Mapping Type	Mapped Value
self	dismech:Variant
native	dismech:Variant

LinkML Source

Direct

name: Variant
from_schema: https://w3id.org/monarch-initiative/dismech
slots:
- name
- description
- gene
- evidence
- functional_effects
- synonyms
- identifiers
- sequence_length
- clinical_significance
- type

Induced

name: Variant
from_schema: https://w3id.org/monarch-initiative/dismech
attributes:
  name:
    name: name
    examples:
    - value: Adolescent Nephronophthisis
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    identifier: true
    alias: name
    owner: Variant
    domain_of:
    - ClinicalTrial
    - ComputationalModel
    - DifferentialDiagnosis
    - Subtype
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - Biochemical
    - HistopathologyFinding
    - Genetic
    - Environmental
    - Disease
    - Stage
    - AgentLifeCycleStage
    - Treatment
    - InfectiousAgent
    - Transmission
    - Assay
    - Diagnosis
    - Inheritance
    - Variant
    - Mechanism
    - ModelingConsideration
    - Definition
    - CriteriaSet
    - ComorbidityAssociation
    range: string
    required: true
  description:
    name: description
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: description
    owner: Variant
    domain_of:
    - Descriptor
    - GeneticContext
    - Dataset
    - ClinicalTrial
    - ComputationalModel
    - DifferentialDiagnosis
    - Subtype
    - CausalEdge
    - TreatmentMechanismTarget
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - HistopathologyFinding
    - Environmental
    - Disease
    - Stage
    - AgentLifeCycle
    - AgentLifeCycleStage
    - AnimalModel
    - Treatment
    - InfectiousAgent
    - Transmission
    - Assay
    - Diagnosis
    - Inheritance
    - Variant
    - FunctionalEffect
    - Mechanism
    - ModelingConsideration
    - Definition
    - CriteriaSet
    - ConditionDescriptor
    - GOEnrichment
    - ComorbidityHypothesis
    - UpstreamConditionHypothesis
    - MechanisticHypothesis
    range: string
  gene:
    name: gene
    examples:
    - value: '{preferred_term: MEFV}'
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: gene
    owner: Variant
    domain_of:
    - GeneticContext
    - Pathophysiology
    - Variant
    range: GeneDescriptor
    inlined: true
  evidence:
    name: evidence
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: evidence
    owner: Variant
    domain_of:
    - PhenotypeContext
    - Dataset
    - ClinicalTrial
    - ComputationalModel
    - DifferentialDiagnosis
    - Subtype
    - CausalEdge
    - TreatmentMechanismTarget
    - Finding
    - Prevalence
    - ProgressionInfo
    - EpidemiologyInfo
    - Pathophysiology
    - Phenotype
    - Biochemical
    - HistopathologyFinding
    - Genetic
    - Environmental
    - Stage
    - AgentLifeCycle
    - AgentLifeCycleStage
    - AnimalModel
    - Treatment
    - InfectiousAgent
    - Transmission
    - Diagnosis
    - Inheritance
    - Variant
    - ModelingConsideration
    - ClassificationAssignment
    - Definition
    - CriteriaSet
    - AssociationSignal
    - AssociationStatistics
    - ComorbidityHypothesis
    - UpstreamConditionHypothesis
    - MechanisticHypothesis
    range: EvidenceItem
    recommended: true
    multivalued: true
    inlined: true
    inlined_as_list: true
  functional_effects:
    name: functional_effects
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: functional_effects
    owner: Variant
    domain_of:
    - Variant
    range: FunctionalEffect
    multivalued: true
    inlined: true
    inlined_as_list: true
  synonyms:
    name: synonyms
    examples:
    - value: '[''CYFRA 21-1'']'
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: synonyms
    owner: Variant
    domain_of:
    - Pathophysiology
    - Biochemical
    - Environmental
    - Disease
    - Variant
    range: string
    multivalued: true
  identifiers:
    name: identifiers
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: identifiers
    owner: Variant
    domain_of:
    - Variant
    range: uriorcurie
    multivalued: true
  sequence_length:
    name: sequence_length
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: sequence_length
    owner: Variant
    domain_of:
    - Variant
    range: integer
  clinical_significance:
    name: clinical_significance
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: clinical_significance
    owner: Variant
    domain_of:
    - Variant
    range: ClinicalSignificanceEnum
  type:
    name: type
    from_schema: https://w3id.org/monarch-initiative/dismech
    rank: 1000
    alias: type
    owner: Variant
    domain_of:
    - Variant
    - FunctionalEffect
    range: string