Gene

This element represents an identifier for a gene. It can be used to transmit the information that the gene is thought to play a causative role in the disease phenotypes being described in cases where the exact variant cannot be transmitted, either for privacy reasons or because it is unknown.

Data model

Definition of the Gene element
Field Type Status Description
id string required identifier of the gene
symbol string required Official gene symbol

Example

{
  "id": "HGNC:347",
  "symbol": "ETF1"
}

id

The id represents an accession number of comparable identifier for the gene. It is often a CURIE with a prefix that is NCBIGene or HGNC (e.g. HGNC:347), but may also be an identifier of the form ENSG00000120705 or , uc003ldc.6.

symbol

This SHOULD use official gene symbol as designated by the organism gene nomenclature committee. In the case of human this is the HUGO Gene Nomenclature Committee e.g. ETF1.