Enum: G2PFunctionEvidence

Types of evidence in the function category of the G2P molecular mechanism evidence classification.

Permissible Values

Value	Title	Description
BIOCHEMICAL	biochemical	Evidence showing the gene product performs a biochemical function: (A) shared with other known genes in the disease of interest, or (B) consistent with the phenotype.
PROTEIN_INTERACTION	protein interaction	Evidence showing the gene product interacts with proteins previously implicated in the disease of interest.
PROTEIN_EXPRESSION	protein expression	Evidence showing the gene is expressed in tissues relevant to the disease of interest and/or is altered in expression in patients who have the disease.
IN_SILICO_MODELLING	in silico modelling	Evidence generated using computer simulations and models predicting the functional impact of relevant gene-specific variants. These models can predict protein structure changes, disruption of protein interactions, or changes in gene and/or protein expression.

Slots

Name	Description
g2p_function_evidence	Evidence in the function category 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

Schema Source

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

LinkML Source

name: G2PFunctionEvidence
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 function category of the G2P molecular mechanism
  evidence classification.
title: G2P Function 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:
  BIOCHEMICAL:
    text: BIOCHEMICAL
    description: 'Evidence showing the gene product performs a biochemical function:
      (A) shared with other known genes in the disease of interest, or (B) consistent
      with the phenotype.'
    title: biochemical
  PROTEIN_INTERACTION:
    text: PROTEIN_INTERACTION
    description: Evidence showing the gene product interacts with proteins previously
      implicated in the disease of interest.
    title: protein interaction
  PROTEIN_EXPRESSION:
    text: PROTEIN_EXPRESSION
    description: Evidence showing the gene is expressed in tissues relevant to the
      disease of interest and/or is altered in expression in patients who have the
      disease.
    title: protein expression
  IN_SILICO_MODELLING:
    text: IN_SILICO_MODELLING
    description: Evidence generated using computer simulations and models predicting
      the functional impact of relevant gene-specific variants. These models can predict
      protein structure changes, disruption of protein interactions, or changes in
      gene and/or protein expression.
    title: in silico modelling