Enum: GeneDiseaseRelationshipEnum

The qualitative relationship between a gene (or locus) and a disease. Use to constrain the free-text association slot to a controlled vocabulary aligned with ClinGen gene-disease validity concepts and common cancer/somatic driver classifications. The free-text association slot may still be used for narrative detail.

URI: dismech:enum/GeneDiseaseRelationshipEnum

Permissible Values

Value	Meaning	Description
CAUSATIVE	None	Variants in the gene are sufficient to cause the disease in a mendelian or ne...
RISK_FACTOR	None	Variants in the gene increase risk of disease but are neither necessary nor s...
PROTECTIVE	None	Variants in the gene reduce the risk or severity of disease
MODIFIER	None	Variants in the gene modify the severity, age of onset, or expressivity of di...
SUSCEPTIBILITY	None	Variants in the gene confer susceptibility to disease in combination with oth...
SOMATIC_DRIVER	None	Somatic alterations in the gene drive tumor initiation or progression (e
COOPERATING	None	Co-occurring somatic or germline alterations that cooperate with a primary dr...
BIOMARKER	None	Gene whose expression, mutation, or amplification status serves as a diagnost...
DISPUTED	None	Reported gene-disease association whose validity is contested (corresponds to...
UNKNOWN	None	The relationship between the gene and the disease is unclear or not yet class...

Slots

Name	Description
relationship_type	Controlled-vocabulary classification of the gene-disease relationship (e

Identifier and Mapping Information

Schema Source

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

LinkML Source

name: GeneDiseaseRelationshipEnum
description: The qualitative relationship between a gene (or locus) and a disease.
  Use to constrain the free-text `association` slot to a controlled vocabulary aligned
  with ClinGen gene-disease validity concepts and common cancer/somatic driver classifications.
  The free-text `association` slot may still be used for narrative detail.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  CAUSATIVE:
    text: CAUSATIVE
    description: Variants in the gene are sufficient to cause the disease in a mendelian
      or near-mendelian sense (corresponds to ClinGen "Definitive" or "Strong" gene-disease
      validity).
    title: Causative
  RISK_FACTOR:
    text: RISK_FACTOR
    description: Variants in the gene increase risk of disease but are neither necessary
      nor sufficient to cause it. Includes common-variant associations and HLA risk
      alleles.
    title: Risk factor
  PROTECTIVE:
    text: PROTECTIVE
    description: Variants in the gene reduce the risk or severity of disease.
    title: Protective
  MODIFIER:
    text: MODIFIER
    description: Variants in the gene modify the severity, age of onset, or expressivity
      of disease without being a primary driver.
    title: Modifier
  SUSCEPTIBILITY:
    text: SUSCEPTIBILITY
    description: Variants in the gene confer susceptibility to disease in combination
      with other genetic or environmental factors. Used for polygenic susceptibility
      loci such as GWAS hits.
    title: Susceptibility
  SOMATIC_DRIVER:
    text: SOMATIC_DRIVER
    description: Somatic alterations in the gene drive tumor initiation or progression
      (e.g., recurrent oncogenic drivers in cancer).
    title: Somatic driver
  COOPERATING:
    text: COOPERATING
    description: Co-occurring somatic or germline alterations that cooperate with
      a primary driver to shape disease behavior or therapy response.
    title: Cooperating alteration
  BIOMARKER:
    text: BIOMARKER
    description: Gene whose expression, mutation, or amplification status serves as
      a diagnostic, prognostic, or predictive biomarker without a required causal
      role.
    title: Biomarker
  DISPUTED:
    text: DISPUTED
    description: Reported gene-disease association whose validity is contested (corresponds
      to ClinGen "Disputed" or "Refuted").
    title: Disputed
  UNKNOWN:
    text: UNKNOWN
    description: The relationship between the gene and the disease is unclear or not
      yet classified.
    title: Unknown