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 |
|---|---|---|
| FunctionalEffect | Describes the functional consequence of a genetic variant, including regulato... | no |
| Variant | A genetic variant associated with a disease, including coding and non-coding ... | no |
Properties
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