Getting all the LOF association to disease for a gene

Data Access GraphQL API
2

Hi @Aner_Ottolenghi and welcome to the Open Targets Community! :tada:

You can use the following query to retrieve all the data of the direction of effect, of diseases associated with a target, in ClinVar and Orphanet on the GraphQL API playground:

query associatedDiseasesExample {
  target(ensemblId: "ENSG00000157764") {
    id
    approvedSymbol
    associatedDiseases {
      count
      rows {
        disease {
          id
          name
          evidences(
            ensemblIds: ["ENSG00000157764"], 
            datasourceIds: ["eva", "orphanet"]
            size: 10000
            ) {
            count
            rows {
              datasourceId
              variantId
              variantRsId
              directionOnTrait
              variantEffect
            }
          }
        }
      }
    }
  }
}

Kindly note that there is a limit of 10000 on the API response size, post which you will have to specify the

cursor: “WzAuOTcsIjAwYTJjZGJiMTM1NTI2ODljZGYzYmI0ZmQ5N2Q1NWYxZTQ3OGU1MTUiXQ==” along with size, specially for ClinVar.

Hope this helps!

Best,
Prashant

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