Slot: gene_known_for_phenotype

Indicate if the gene listed is a candidate or known disease gene. Known disease genes can be identified using OMIM or MONDO or MitoMap. Variant/phenotype in proband should be consistent with the described MOD/phenotype to be considered a known gene for condition.

URI: gregor_linkml:gene_known_for_phenotype

Applicable Classes

Name	Description	Modifies Slot
GeneticFindings	Table containing genetic_findings information	no

Properties

• Range: GeneKnownForPhenotypeEnum

• Required: True

Identifier and Mapping Information

Schema Source

• from schema: https://w3id.org/madanucd/gregor_linkml

LinkML Source

name: gene_known_for_phenotype
description: Indicate if the gene listed is a candidate or known disease gene. Known
  disease genes can be identified using OMIM or MONDO or MitoMap. Variant/phenotype
  in proband should be consistent with the described MOD/phenotype to be considered
  a known gene for condition.
from_schema: https://w3id.org/madanucd/gregor_linkml
rank: 1000
alias: gene_known_for_phenotype
domain_of:
- Genetic_findings
range: Gene_known_for_phenotypeEnum
required: true