{
  "data": {
    "__count": 1,
    "__licence": {
      "identifier": "CC-BY-4.0",
      "link": "https://creativecommons.org/licenses/by/4.0",
      "name": "Creative Commons Attribution 4.0 International"
    },
    "results": {
      "Date": "2026-06-23 07:57:31",
      "DisorderGeneAssociation": [
        {
          "DisorderGeneAssociationStatus": "Assessed",
          "DisorderGeneAssociationType": "Disease-causing germline mutation(s) (loss of function) in",
          "Gene": {
            "ExternalReference": [
              {
                "Reference": "CHST6",
                "Source": "ClinVar"
              },
              {
                "Reference": "ENSG00000183196",
                "Source": "Ensembl"
              },
              {
                "Reference": "CHST6",
                "Source": "Genatlas"
              },
              {
                "Reference": "6938",
                "Source": "HGNC"
              },
              {
                "Reference": "605294",
                "Source": "OMIM"
              },
              {
                "Reference": "Q9GZX3",
                "Source": "Reactome"
              },
              {
                "Reference": "Q9GZX3",
                "Source": "SwissProt"
              }
            ],
            "GeneType": "gene with protein product",
            "Locus": [
              {
                "GeneLocus": "16q23.1",
                "LocusKey": 1
              }
            ],
            "Symbol": "CHST6",
            "Synonym": null,
            "name": "carbohydrate sulfotransferase 6"
          },
          "SourceOfValidation": "11017086[PMID]_19365571[PMID]"
        }
      ],
      "DisorderGroup": "Disorder",
      "ORPHAcode": 98969,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98969",
      "Preferred term": "Macular corneal dystrophy",
      "Typology": "Disease"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Rare diseases and associated genes"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 98969
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-associated-genes/orphacodes/98969"
}