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GeneListItem

Trial Use

This data class is at a trial use maturity level and may change in future releases. Maturity levels are described in the GKS Maturity Model.

A complex structure for sharing individual Gene entries associated with Clinvar Variations including entrez_gene_id, hgnc_id, symbol, relationship_type, source, and iris.

JSON Schema: GeneListItem

Information Model

Field Type Limits Description
entrez_gene_id string 0..1 NCBI Entrez Gene identifier.
hgnc_id string 0..1 HGNC gene identifier (e.g., HGNC:1234). May be null for genes without an HGNC assignment.
symbol string 0..1 The gene symbol (e.g., BRCA1, MTOR).
relationship_type string 0..1 The relationship between the variation and the gene as reported by ClinVar (e.g., within single gene, genes overlapped by variant).
source string 0..1 The source of the gene association (e.g., submitted, calculated).
iris iriReference[] (unordered) 0..m Identifier IRIs for the gene, including links to identifiers.org (HGNC and/or NCBI Gene) and NCBI Gene pages.