Enum: FunctionalImpactEnum

Directional or qualitative functional consequence of a variant or genetic context.

URI: dismech:enum/FunctionalImpactEnum

Permissible Values

Value	Meaning	Description	Additional Info
LOSS_OF_FUNCTION	None	Complete or partial reduction of normal gene product function	Title: Loss of function
GAIN_OF_FUNCTION	None	Increased, novel, or constitutive gene product function	Title: Gain of function
PARTIAL_LOSS_OF_FUNCTION	None	Hypomorphic reduction of normal gene product function	Title: Partial loss of function
DOMINANT_NEGATIVE	None	Mutant product interferes with the remaining wild-type product	Title: Dominant negative
HYPERMORPHIC	None	Increased normal gene product activity	Title: Hypermorphic
NEOMORPHIC	None	Novel gene product activity not present in the wild type	Title: Neomorphic
UNKNOWN	None	Functional impact is not known	Title: Unknown

Slots

Name	Description
functional_impact_category	Controlled functional impact category for a genetic context

Identifier and Mapping Information

Schema Source

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

LinkML Source

name: FunctionalImpactEnum
description: Directional or qualitative functional consequence of a variant or genetic
  context.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  LOSS_OF_FUNCTION:
    text: LOSS_OF_FUNCTION
    description: Complete or partial reduction of normal gene product function.
    title: Loss of function
  GAIN_OF_FUNCTION:
    text: GAIN_OF_FUNCTION
    description: Increased, novel, or constitutive gene product function.
    title: Gain of function
  PARTIAL_LOSS_OF_FUNCTION:
    text: PARTIAL_LOSS_OF_FUNCTION
    description: Hypomorphic reduction of normal gene product function.
    title: Partial loss of function
  DOMINANT_NEGATIVE:
    text: DOMINANT_NEGATIVE
    description: Mutant product interferes with the remaining wild-type product.
    title: Dominant negative
  HYPERMORPHIC:
    text: HYPERMORPHIC
    description: Increased normal gene product activity.
    title: Hypermorphic
  NEOMORPHIC:
    text: NEOMORPHIC
    description: Novel gene product activity not present in the wild type.
    title: Neomorphic
  UNKNOWN:
    text: UNKNOWN
    description: Functional impact is not known.
    title: Unknown