Skip to content

Enum: GeneDiseaseValidityClassificationEnum

How well established a gene-disease relationship is, as classified by an external curation body. The values are the GenCC harmonised gene-disease validity classifications; ClinGen, Gene2Phenotype, Orphanet and the PanelApp instances each map their own scale onto them. Used only inside a GeneDiseaseValidityAssertion, which must say who made the classification: dismech records these tiers, it does not assign them (#10179).

URI: dismech:enum/GeneDiseaseValidityClassificationEnum

Permissible Values

Value Meaning Description Additional Info
DEFINITIVE None The role of the gene in the disease has been repeatedly demonstrated and has ... Title: Definitive
STRONG None The role of the gene in the disease has been independently demonstrated in at... Title: Strong
MODERATE None There is moderate evidence supporting a causal role, typically several proban... Title: Moderate
SUPPORTIVE None The submitter supports the relationship without grading it on a validity scal... Title: Supportive
LIMITED None There is limited evidence for a causal role, such as few probands or segregat... Title: Limited
DISPUTED None Conflicting evidence disputes a role for the gene in the disease Title: Disputed evidence
REFUTED None Evidence refuting the role of the gene in the disease significantly outweighs... Title: Refuted evidence
NO_KNOWN_DISEASE_RELATIONSHIP None The submitter has evaluated the gene and found no evidence that it causes the... Title: No known disease relationship

Slots

Name Description
validity_classification The tier assigned, copied from the source named in classified_by

Comments

  • Each value carries a gencc_classification annotation naming the GenCC CURIE, read from the GenCC submissions export (search.thegencc.org, 2026-09-23). GENCC:100007 is not used by any current submission and has no value here; there is deliberately no ANIMAL_MODEL_ONLY.
  • Orthogonal to GeneDiseaseRelationshipEnum, which records what kind of relationship is claimed (causative, risk factor, modifier). A causative claim can be DEFINITIVE or LIMITED.

Identifier and Mapping Information

Schema Source

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

LinkML Source

name: GeneDiseaseValidityClassificationEnum
description: 'How well established a gene-disease relationship is, as classified by
  an external curation body. The values are the GenCC harmonised gene-disease validity
  classifications; ClinGen, Gene2Phenotype, Orphanet and the PanelApp instances each
  map their own scale onto them. Used only inside a GeneDiseaseValidityAssertion,
  which must say who made the classification: dismech records these tiers, it does
  not assign them (#10179).'
comments:
- Each value carries a `gencc_classification` annotation naming the GenCC CURIE, read
  from the GenCC submissions export (search.thegencc.org, 2026-09-23). GENCC:100007
  is not used by any current submission and has no value here; there is deliberately
  no ANIMAL_MODEL_ONLY.
- Orthogonal to GeneDiseaseRelationshipEnum, which records what kind of relationship
  is claimed (causative, risk factor, modifier). A causative claim can be DEFINITIVE
  or LIMITED.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  DEFINITIVE:
    text: DEFINITIVE
    description: The role of the gene in the disease has been repeatedly demonstrated
      and has not been contradicted.
    annotations:
      gencc_classification:
        tag: gencc_classification
        value: GENCC:100001
    title: Definitive
  STRONG:
    text: STRONG
    description: The role of the gene in the disease has been independently demonstrated
      in at least two separate studies, with no convincing contradictory evidence.
    annotations:
      gencc_classification:
        tag: gencc_classification
        value: GENCC:100002
    title: Strong
  MODERATE:
    text: MODERATE
    description: There is moderate evidence supporting a causal role, typically several
      probands with functional support but short of Strong.
    annotations:
      gencc_classification:
        tag: gencc_classification
        value: GENCC:100003
    title: Moderate
  SUPPORTIVE:
    text: SUPPORTIVE
    description: The submitter supports the relationship without grading it on a validity
      scale. Orphanet submits every gene-disease link at this tier.
    annotations:
      gencc_classification:
        tag: gencc_classification
        value: GENCC:100009
    title: Supportive
  LIMITED:
    text: LIMITED
    description: There is limited evidence for a causal role, such as few probands
      or segregation without functional support.
    annotations:
      gencc_classification:
        tag: gencc_classification
        value: GENCC:100004
    title: Limited
  DISPUTED:
    text: DISPUTED
    description: Conflicting evidence disputes a role for the gene in the disease.
    annotations:
      gencc_classification:
        tag: gencc_classification
        value: GENCC:100005
    title: Disputed evidence
  REFUTED:
    text: REFUTED
    description: Evidence refuting the role of the gene in the disease significantly
      outweighs any supporting evidence.
    annotations:
      gencc_classification:
        tag: gencc_classification
        value: GENCC:100006
    title: Refuted evidence
  NO_KNOWN_DISEASE_RELATIONSHIP:
    text: NO_KNOWN_DISEASE_RELATIONSHIP
    description: The submitter has evaluated the gene and found no evidence that it
      causes the disease.
    annotations:
      gencc_classification:
        tag: gencc_classification
        value: GENCC:100008
    title: No known disease relationship