Enum: ModifierEnum

Qualifiers for direction, intensity, functional impact, or pathological state of a descriptor (biological process, molecular function, cell type, etc.). GAIN_OF_FUNCTION and LOSS_OF_FUNCTION describe the activity state of a pathway or process regardless of underlying cause (genetic variant, viral protein, epigenetic silencing, post-translational modification, etc.). For the functional consequence of a specific genetic variant, use GeneticContext.functional_impact_category (FunctionalImpactEnum) instead. Boundary with INCREASED/DECREASED: prefer the PATO-bound INCREASED/DECREASED when the claim is quantitative — a normally regulated process running above or below its normal level. Reserve GAIN_OF_FUNCTION/LOSS_OF_FUNCTION for a qualitative change in regulatory control, where the process is driven outside its normal regulatory constraints (viral oncoprotein, autocrine loop, epigenetic silencing, protein sequestration). Existing INCREASED/DECREASED annotations should not be migrated to GAIN_OF_FUNCTION/LOSS_OF_FUNCTION without that qualitative justification.

URI: dismech:enum/ModifierEnum

Permissible Values

Value	Meaning	Description	Additional Info
INCREASED	PATO:0002300	Upregulated, hyperactive, elevated, or excessive	Title: Increased
DECREASED	PATO:0002301	Downregulated, hypoactive, reduced, or deficient	Title: Decreased
ABNORMAL	PATO:0000460	Qualitatively abnormal (e	Title: Abnormal
DYSREGULATED	None	Regulation is impaired (may be increased or decreased)	Title: Dysregulated
ABSENT	PATO:0000462	Not occurring or not present	Title: Absent
GAIN_OF_FUNCTION	None	Constitutive or aberrant activation of a pathway, process, or molecular funct...	Title: Gain of function
LOSS_OF_FUNCTION	None	Reduction or abolition of normal pathway, process, or molecular function rega...	Title: Loss of function

Slots

Name	Description
modifier	Directional, functional, or qualitative modifier for a descriptor (e

Identifier and Mapping Information

Schema Source

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

LinkML Source

name: ModifierEnum
description: 'Qualifiers for direction, intensity, functional impact, or pathological
  state of a descriptor (biological process, molecular function, cell type, etc.).
  GAIN_OF_FUNCTION and LOSS_OF_FUNCTION describe the activity *state* of a pathway
  or process regardless of underlying cause (genetic variant, viral protein, epigenetic
  silencing, post-translational modification, etc.). For the functional consequence
  of a specific genetic *variant*, use GeneticContext.functional_impact_category (FunctionalImpactEnum)
  instead. Boundary with INCREASED/DECREASED: prefer the PATO-bound INCREASED/DECREASED
  when the claim is *quantitative* — a normally regulated process running above or
  below its normal level. Reserve GAIN_OF_FUNCTION/LOSS_OF_FUNCTION for a *qualitative*
  change in regulatory control, where the process is driven outside its normal regulatory
  constraints (viral oncoprotein, autocrine loop, epigenetic silencing, protein sequestration).
  Existing INCREASED/DECREASED annotations should not be migrated to GAIN_OF_FUNCTION/LOSS_OF_FUNCTION
  without that qualitative justification.'
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  INCREASED:
    text: INCREASED
    description: Upregulated, hyperactive, elevated, or excessive
    meaning: PATO:0002300
    title: Increased
    aliases:
    - increased quality
  DECREASED:
    text: DECREASED
    description: Downregulated, hypoactive, reduced, or deficient
    meaning: PATO:0002301
    title: Decreased
    aliases:
    - decreased quality
  ABNORMAL:
    text: ABNORMAL
    description: Qualitatively abnormal (e.g., misfolding, mislocalization, malformed)
    meaning: PATO:0000460
    title: Abnormal
  DYSREGULATED:
    text: DYSREGULATED
    description: Regulation is impaired (may be increased or decreased)
    title: Dysregulated
  ABSENT:
    text: ABSENT
    description: Not occurring or not present
    meaning: PATO:0000462
    title: Absent
  GAIN_OF_FUNCTION:
    text: GAIN_OF_FUNCTION
    description: 'Constitutive or aberrant activation of a pathway, process, or molecular
      function regardless of underlying mechanism (viral oncoprotein, autocrine loop,
      post-translational modification, etc.). For mutation-driven GOF, use GeneticContext.functional_impact_category:
      GAIN_OF_FUNCTION.'
    title: Gain of function
  LOSS_OF_FUNCTION:
    text: LOSS_OF_FUNCTION
    description: 'Reduction or abolition of normal pathway, process, or molecular
      function regardless of underlying mechanism (epigenetic silencing, protein sequestration,
      competitive inhibition, etc.). For mutation-driven LOF, use GeneticContext.functional_impact_category:
      LOSS_OF_FUNCTION.'
    title: Loss of function