{
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    "@vocab": "https://schema.org/",
    "biolink": "https://w3id.org/biolink/",
    "orion": "https://github.com/RobokopU24/ORION"
  },
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  "@type": "Dataset",
  "name": "A ROBOKOP Knowledge Graph based on ClinGen - Gene-Disease Clinical Validity",
  "description": "",
  "url": "https://robokop.renci.org/graphs/ClinGenGeneDiseaseValidity/1.0.2/",
  "version": "1.0.2",
  "dateCreated": "2026-07-22T23:06:04Z",
  "dateModified": "2026-07-22T23:06:04Z",
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  "orion:babelVersion": "2026jul22",
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      "name": "A ROBOKOP Knowledge Graph based on ClinGen - Gene-Disease Clinical Validity",
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      "orion:nodeCount": 5109,
      "orion:edgeCount": 3626
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      "identifier": "infores:clingen",
      "name": "ClinGen - Gene-Disease Clinical Validity",
      "description": "The ClinGen Gene-Disease Clinical Validity curation process involves evaluating the strength of evidence supporting or refuting a claim that variation in a particular gene causes a particular monogenic disease.",
      "license": "CC0 1.0",
      "attribution": "https://clinicalgenome.org/curation-activities/gene-disease-validity/",
      "url": "https://clinicalgenome.org/",
      "contentUrl": "https://search.clinicalgenome.org/kb/gene-validity/download",
      "citation": [
        "https://doi.org/10.1056/NEJMsr1406261",
        "Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261."
      ],
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    },
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    },
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    },
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    "biomedical",
    "drug discovery",
    "translational research",
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    "disease",
    "drug",
    "phenotype",
    "pathway"
  ],
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      "@type": "Organization",
      "@id": "https://ror.org/0130frc33",
      "name": "Renaissance Computing Institute (RENCI)",
      "url": "https://renci.org"
    }
  ],
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      "contactType": "developer",
      "url": "https://github.com/RobokopU24/ORION/issues"
    }
  ],
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      "name": "National Center for Advancing Translational Sciences (NCATS)",
      "url": "https://ncats.nih.gov"
    },
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      "name": "National Institute of Environmental Health Sciences (NIEHS)",
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      "name": "National Institutes of Health (NIH)",
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    }
  ],
  "license": "https://spdx.org/licenses/MIT"
}