Enum: G2PMechanismEvidenceCategory

The broad category of experimental evidence supporting a molecular mechanism in G2P. G2P evidence classifications reuse terms from the ClinGen gene-disease validity SOP Experimental Evidence Summary Matrix.

URI: valuesets:G2PMechanismEvidenceCategory

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Permissible Values

Value	Title	Description
FUNCTION	function	Evidence about the biochemical function, expression or interactions of the gene product.
FUNCTIONAL_ALTERATION	functional alteration	Evidence from cells in which the function of the gene has been disrupted, showing a phenotype consistent with the human disease process.
MODELS	models	Evidence from a cell culture model or non-human model organism with a disrupted copy of the gene.
RESCUE	rescue	Evidence that the phenotype can be rescued by restoring the wild-type gene or gene product.

Slots

Name	Description
g2p_mechanism_evidence_category	The broad category of experimental evidence supporting a molecular mechanism

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
standard	ClinGen gene-disease validity SOP Experimental Evidence Summary Matrix

Schema Source

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

LinkML Source

name: G2PMechanismEvidenceCategory
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
  standard:
    tag: standard
    value: ClinGen gene-disease validity SOP Experimental Evidence Summary Matrix
description: The broad category of experimental evidence supporting a molecular mechanism
  in G2P. G2P evidence classifications reuse terms from the ClinGen gene-disease validity
  SOP Experimental Evidence Summary Matrix.
title: G2P Mechanism Evidence Category
from_schema: https://w3id.org/valuesets
contributors:
- orcid:0000-0002-6601-2165
- https://github.com/anthropics/claude-code
status: STANDARD
rank: 1000
permissible_values:
  FUNCTION:
    text: FUNCTION
    description: Evidence about the biochemical function, expression or interactions
      of the gene product.
    title: function
  FUNCTIONAL_ALTERATION:
    text: FUNCTIONAL_ALTERATION
    description: Evidence from cells in which the function of the gene has been disrupted,
      showing a phenotype consistent with the human disease process.
    title: functional alteration
  MODELS:
    text: MODELS
    description: Evidence from a cell culture model or non-human model organism with
      a disrupted copy of the gene.
    title: models
  RESCUE:
    text: RESCUE
    description: Evidence that the phenotype can be rescued by restoring the wild-type
      gene or gene product.
    title: rescue