{
  "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) in",
          "Gene": {
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              {
                "Reference": "VSX1",
                "Source": "ClinVar"
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              {
                "Reference": "ENSG00000100987",
                "Source": "Ensembl"
              },
              {
                "Reference": "VSX1",
                "Source": "Genatlas"
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              {
                "Reference": "12723",
                "Source": "HGNC"
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              {
                "Reference": "605020",
                "Source": "OMIM"
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              {
                "Reference": "Q9NZR4",
                "Source": "SwissProt"
              }
            ],
            "GeneType": "gene with protein product",
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              {
                "GeneLocus": "20p11.21",
                "LocusKey": 1
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            ],
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              "PPD"
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            "name": "visual system homeobox 1"
          },
          "SourceOfValidation": "11978762[PMID]"
        },
        {
          "DisorderGeneAssociationStatus": "Assessed",
          "DisorderGeneAssociationType": "Disease-causing germline mutation(s) in",
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                "Reference": "ZEB1",
                "Source": "ClinVar"
              },
              {
                "Reference": "ENSG00000148516",
                "Source": "Ensembl"
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              {
                "Reference": "ZEB1",
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              {
                "Reference": "11642",
                "Source": "HGNC"
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              {
                "Reference": "189909",
                "Source": "OMIM"
              },
              {
                "Reference": "P37275",
                "Source": "Reactome"
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              {
                "Reference": "P37275",
                "Source": "SwissProt"
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            ],
            "GeneType": "gene with protein product",
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              {
                "GeneLocus": "10p11.22",
                "LocusKey": 1
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            ],
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              "BZP",
              "FECD6",
              "NIL-2-A",
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              "Zfhep",
              "Zfhx1a"
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            "name": "zinc finger E-box binding homeobox 1"
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          "SourceOfValidation": "23807282[PMID]_25441224[PMID]"
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        {
          "DisorderGeneAssociationStatus": "Assessed",
          "DisorderGeneAssociationType": "Disease-causing germline mutation(s) in",
          "Gene": {
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                "Reference": "COL8A2",
                "Source": "ClinVar"
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              {
                "Reference": "ENSG00000171812",
                "Source": "Ensembl"
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              {
                "Reference": "COL8A2",
                "Source": "Genatlas"
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              {
                "Reference": "2216",
                "Source": "HGNC"
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              {
                "Reference": "120252",
                "Source": "OMIM"
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              {
                "Reference": "P25067",
                "Source": "Reactome"
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              {
                "Reference": "P25067",
                "Source": "SwissProt"
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            ],
            "GeneType": "gene with protein product",
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              {
                "GeneLocus": "1p34.3",
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              "PPCD",
              "PPCD2"
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            "name": "collagen type VIII alpha 2 chain"
          },
          "SourceOfValidation": "11689488[PMID]"
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        {
          "DisorderGeneAssociationStatus": "Assessed",
          "DisorderGeneAssociationType": "Disease-causing germline mutation(s) in",
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                "Reference": "GRHL2",
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              {
                "Reference": "ENSG00000083307",
                "Source": "Ensembl"
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              {
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              {
                "Reference": "2799",
                "Source": "HGNC"
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              {
                "Reference": "608576",
                "Source": "OMIM"
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              {
                "Reference": "Q6ISB3",
                "Source": "Reactome"
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              {
                "Reference": "Q6ISB3",
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            ],
            "GeneType": "gene with protein product",
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              {
                "GeneLocus": "8q22.3",
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              "FLJ13782",
              "brother-of-MGR"
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            "name": "grainyhead like transcription factor 2"
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        {
          "DisorderGeneAssociationStatus": "Assessed",
          "DisorderGeneAssociationType": "Disease-causing germline mutation(s) in",
          "Gene": {
            "ExternalReference": [
              {
                "Reference": "OVOL2",
                "Source": "ClinVar"
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              {
                "Reference": "ENSG00000125850",
                "Source": "Ensembl"
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              {
                "Reference": "OVOL2",
                "Source": "Genatlas"
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              {
                "Reference": "15804",
                "Source": "HGNC"
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              {
                "Reference": "616441",
                "Source": "OMIM"
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              {
                "Reference": "Q9BRP0",
                "Source": "SwissProt"
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            ],
            "GeneType": "gene with protein product",
            "Locus": [
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                "GeneLocus": "20p11.23",
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            ],
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            "Synonym": [
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              "bA504H3.3"
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            "name": "ovo like zinc finger 2"
          },
          "SourceOfValidation": "26749309[PMID]"
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      ],
      "DisorderGroup": "Disorder",
      "ORPHAcode": 98973,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973",
      "Preferred term": "Posterior polymorphous corneal dystrophy",
      "Typology": "Disease"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Rare diseases and associated genes"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 98973
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-associated-genes/orphacodes/98973"
}