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Slot: regulatory_category

Functional classification of a variant's impact on gene expression, using the LOE/mLOE/GOE framework (Cheng et al. 2024, PMID:38436667) or traditional coding categories (LOF/GOF/DN).

URI: dismech:slot/regulatory_category Alias: regulatory_category

Applicable Classes

Name Description Modifies Slot
Variant A genetic variant associated with a disease, including coding and non-coding ... no
FunctionalEffect Describes the functional consequence of a genetic variant, including regulato... no

Properties

Type and Range

Property Value
Range RegulatoryVariantCategoryEnum
Domain Of Variant, FunctionalEffect

Cardinality and Requirements

Property Value

Identifier and Mapping Information

Schema Source

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

Mappings

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

LinkML Source

name: regulatory_category
description: Functional classification of a variant's impact on gene expression, using
  the LOE/mLOE/GOE framework (Cheng et al. 2024, PMID:38436667) or traditional coding
  categories (LOF/GOF/DN).
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
alias: regulatory_category
domain_of:
- Variant
- FunctionalEffect
range: RegulatoryVariantCategoryEnum