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Enum: AllelicHitRoleEnum

Role of a genetic alteration in a multi-hit disease mechanism. This is intentionally separate from variant origin, event type, and functional impact so two-hit models can be represented compositionally.

URI: dismech:enum/AllelicHitRoleEnum

Permissible Values

Value Meaning Description Additional Info
FIRST_HIT None Initial alteration that creates a predisposed or partially disabled state, ty... Title: First hit
SECOND_HIT None Additional alteration that completes functional inactivation or activation in... Title: Second hit
BIALLELIC_INACTIVATION None Combined state in which both alleles of a gene are functionally inactivated Title: Biallelic inactivation
COOPERATING_HIT None Alteration that cooperates with another primary alteration without necessaril... Title: Cooperating hit
UNKNOWN None The hit role has not been determined Title: Unknown

Slots

Name Description
allelic_hit_role Role of the alteration in a multi-hit mechanism, such as first hit, second hi...

Identifier and Mapping Information

Schema Source

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

LinkML Source

name: AllelicHitRoleEnum
description: Role of a genetic alteration in a multi-hit disease mechanism. This is
  intentionally separate from variant origin, event type, and functional impact so
  two-hit models can be represented compositionally.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  FIRST_HIT:
    text: FIRST_HIT
    description: Initial alteration that creates a predisposed or partially disabled
      state, typically a germline alteration in tumor-suppressor syndromes.
    title: First hit
  SECOND_HIT:
    text: SECOND_HIT
    description: Additional alteration that completes functional inactivation or activation
      in the relevant disease tissue or clone.
    title: Second hit
  BIALLELIC_INACTIVATION:
    text: BIALLELIC_INACTIVATION
    description: Combined state in which both alleles of a gene are functionally inactivated.
    title: Biallelic inactivation
  COOPERATING_HIT:
    text: COOPERATING_HIT
    description: Alteration that cooperates with another primary alteration without
      necessarily being ordered as the first or second hit.
    title: Cooperating hit
  UNKNOWN:
    text: UNKNOWN
    description: The hit role has not been determined.
    title: Unknown