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Enum: G2PFunctionalAlterationEvidence

Types of evidence in the functional alteration category of the G2P molecular mechanism evidence classification, distinguished by whether the cells came from an affected individual.

URI: valuesets:G2PFunctionalAlterationEvidence

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Permissible Values

Value Title Meaning Description
PATIENT_CELLS patient cells Evidence showing that cultured patient cells, in which the function of the gene has been disrupted, have a phenotype that is consistent with the human disease process.
NON_PATIENT_CELLS non patient cells Evidence showing that cultured non-patient cells, in which the function of the gene has been disrupted, have a phenotype that is consistent with the human disease process.

Slots

Name Description
g2p_functional_alteration_evidence Evidence in the functional alteration category supporting a molecular mechani...

Identifier and Mapping Information

Annotations

property value
stewards https://www.ebi.ac.uk/gene2phenotype
publishers https://www.ebi.ac.uk/gene2phenotype
source https://www.ebi.ac.uk/gene2phenotype/about/terminology#mechanism-evidence-section

Schema Source

  • from schema: https://w3id.org/valuesets

LinkML Source

name: G2PFunctionalAlterationEvidence
instantiates:
- valuesets_meta:ValueSetEnumDefinition
annotations:
  stewards:
    tag: stewards
    value: https://www.ebi.ac.uk/gene2phenotype
  publishers:
    tag: publishers
    value: https://www.ebi.ac.uk/gene2phenotype
  source:
    tag: source
    value: https://www.ebi.ac.uk/gene2phenotype/about/terminology#mechanism-evidence-section
description: Types of evidence in the functional alteration category of the G2P molecular
  mechanism evidence classification, distinguished by whether the cells came from
  an affected individual.
title: G2P Functional Alteration Evidence
from_schema: https://w3id.org/valuesets
contributors:
- orcid:0000-0002-6601-2165
- https://github.com/anthropics/claude-code
status: STANDARD
rank: 1000
permissible_values:
  PATIENT_CELLS:
    text: PATIENT_CELLS
    description: Evidence showing that cultured patient cells, in which the function
      of the gene has been disrupted, have a phenotype that is consistent with the
      human disease process.
    title: patient cells
  NON_PATIENT_CELLS:
    text: NON_PATIENT_CELLS
    description: Evidence showing that cultured non-patient cells, in which the function
      of the gene has been disrupted, have a phenotype that is consistent with the
      human disease process.
    title: non patient cells