{
  "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) (gain of function) in",
          "Gene": {
            "ExternalReference": [
              {
                "Reference": "PRKAR1A",
                "Source": "ClinVar"
              },
              {
                "Reference": "ENSG00000108946",
                "Source": "Ensembl"
              },
              {
                "Reference": "PRKAR1A",
                "Source": "Genatlas"
              },
              {
                "Reference": "9388",
                "Source": "HGNC"
              },
              {
                "Reference": "1472",
                "Source": "IUPHAR"
              },
              {
                "Reference": "188830",
                "Source": "OMIM"
              },
              {
                "Reference": "P10644",
                "Source": "Reactome"
              },
              {
                "Reference": "P10644",
                "Source": "SwissProt"
              }
            ],
            "GeneType": "gene with protein product",
            "Locus": [
              {
                "GeneLocus": "17q24.2",
                "LocusKey": 1
              }
            ],
            "Symbol": "PRKAR1A",
            "Synonym": [
              "CNC1",
              "Carney complex type 1"
            ],
            "name": "protein kinase cAMP-dependent type I regulatory subunit alpha"
          },
          "SourceOfValidation": "21651393[PMID]_22464250[PMID]_22464252[PMID]"
        },
        {
          "DisorderGeneAssociationStatus": "Assessed",
          "DisorderGeneAssociationType": "Disease-causing germline mutation(s) in",
          "Gene": {
            "ExternalReference": [
              {
                "Reference": "PDE4D",
                "Source": "ClinVar"
              },
              {
                "Reference": "ENSG00000113448",
                "Source": "Ensembl"
              },
              {
                "Reference": "PDE4D",
                "Source": "Genatlas"
              },
              {
                "Reference": "8783",
                "Source": "HGNC"
              },
              {
                "Reference": "1303",
                "Source": "IUPHAR"
              },
              {
                "Reference": "600129",
                "Source": "OMIM"
              },
              {
                "Reference": "Q08499",
                "Source": "Reactome"
              },
              {
                "Reference": "Q08499",
                "Source": "SwissProt"
              }
            ],
            "GeneType": "gene with protein product",
            "Locus": [
              {
                "GeneLocus": "5q11.2-q12.1",
                "LocusKey": 1
              }
            ],
            "Symbol": "PDE4D",
            "Synonym": [
              "cAMP-specific 3',5'-cyclic phosphodiesterase 4D",
              "phosphodiesterase E3 dunce homolog (Drosophila)"
            ],
            "name": "phosphodiesterase 4D"
          },
          "SourceOfValidation": "22464250[PMID]_22464252[PMID]"
        }
      ],
      "DisorderGroup": "Disorder",
      "ORPHAcode": 950,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950",
      "Preferred term": "Acrodysostosis",
      "Typology": "Malformation syndrome"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Rare diseases and associated genes"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 950
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-associated-genes/orphacodes/950"
}