Description of properties returned when querying the API for a gene

GET /lookup/schema/genes
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Cache-Control: max-age=86400
Content-Type: application/json ;utf-8
ETag: "0623417061cc2d16c7fa5d3ef0faaeb4e141e0524c7a69168b6a5de065c9a7df"
Vary: Accept

{
  "title": "Gene Lookup Schema",
  "description": "Description of properties returned when querying the API for a gene",
  "type": "object",
  "properties": {
    "gene_id": {
      "type": "integer",
      "required": true,
      "read_only": false,
      "label": "Gene id"
    },
    "symbol": {
      "type": "string",
      "required": true,
      "read_only": false,
      "label": "Gene symbol"
    },
    "description": {
      "type": "string",
      "required": true,
      "read_only": false,
      "label": "Description"
    },
    "synonyms": {
      "type": "list",
      "required": false,
      "read_only": false,
      "label": "Synonyms",
      "items": {
        "type": "field"
      }
    },
    "dgi": {
      "type": "object",
      "title": "Drug Gene Interaction Database (DGI)",
      "properties": {
        "version": {
          "type": "string",
          "required": true,
          "read_only": false,
          "label": "Version"
        },
        "items": {
          "type": "array",
          "title": "Details",
          "items": {
            "type": "object",
            "properties": {
              "drug_name_primary": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Drug name primary"
              },
              "drug_chembl_id": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "CHEMBL ID"
              },
              "drug_immunotherapy": {
                "type": "boolean",
                "required": false,
                "read_only": false,
                "label": "Immunotherapy"
              },
              "drug_anti_neoplastic": {
                "type": "boolean",
                "required": false,
                "read_only": false,
                "label": "Antineoplastic"
              },
              "disease": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Disease",
                "items": {
                  "type": "field"
                }
              },
              "gene_symbol": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Gene symbol"
              },
              "interaction_type": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Interaction type",
                "items": {
                  "type": "field"
                }
              },
              "drug_fda_approved": {
                "type": "boolean",
                "required": false,
                "read_only": false,
                "label": "Drug approved"
              },
              "attributes": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Attributes",
                "items": {
                  "type": "nested object"
                }
              },
              "id": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "ID"
              },
              "gene_entrez": {
                "type": "integer",
                "required": false,
                "read_only": false,
                "label": "Gene Entrez"
              },
              "interaction_claims": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Interaction claims",
                "items": {
                  "type": "field"
                }
              }
            }
          }
        }
      }
    },
    "cgd": {
      "type": "object",
      "title": "Clinical Genomic Database (CGD)",
      "properties": {
        "version": {
          "type": "string",
          "required": true,
          "read_only": false,
          "label": "Version"
        },
        "pub_med_references": {
          "type": "list",
          "required": false,
          "read_only": false,
          "label": "PUBMED References",
          "items": {
            "type": "field"
          }
        },
        "condition": {
          "type": "string",
          "required": false,
          "read_only": false,
          "label": "Condition"
        },
        "inheritance": {
          "type": "string",
          "required": false,
          "read_only": false,
          "label": "Inheritance"
        },
        "age_group": {
          "type": "string",
          "required": false,
          "read_only": false,
          "label": "Age Group"
        },
        "intervention_categories": {
          "type": "list",
          "required": false,
          "read_only": false,
          "label": "Intervention Categories",
          "items": {
            "type": "string"
          }
        },
        "comments": {
          "type": "string",
          "required": false,
          "read_only": false,
          "label": "Comments"
        },
        "intervention": {
          "type": "string",
          "required": false,
          "read_only": false,
          "label": "Intervention"
        }
      }
    },
    "civic": {
      "type": "object",
      "title": "CIViC",
      "properties": {
        "version": {
          "type": "string",
          "required": true,
          "read_only": false,
          "label": "Version"
        },
        "items": {
          "type": "array",
          "title": "Details",
          "items": {
            "type": "object",
            "properties": {
              "asco_entry": {
                "type": "object",
                "title": "ASCO entry",
                "properties": {
                  "asco_citation_id": {
                    "type": "string",
                    "required": false,
                    "read_only": false,
                    "label": "ASCO citation id"
                  },
                  "asco_abstract_id": {
                    "type": "string",
                    "required": false,
                    "read_only": false,
                    "label": "ASCO absctract id"
                  }
                }
              },
              "clinical_significance": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Clinical significance"
              },
              "disease": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Disease"
              },
              "doid": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "DOID"
              },
              "drug_interaction_type": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Drug interaction type"
              },
              "drugs": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Drugs",
                "items": {
                  "type": "string"
                }
              },
              "entrez_id": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Entrez ID"
              },
              "evidence_civic_url": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Evidence CIViC URL"
              },
              "evidence_direction": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Evidence direction"
              },
              "evidence_level": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Evidence level"
              },
              "evidence_statement": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Evidence statement"
              },
              "evidence_status": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Evidence status"
              },
              "evidence_type": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Evidence type"
              },
              "gene": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Gene"
              },
              "gene_civic_url": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Gene CIViC URL"
              },
              "last_review_date": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Last review date"
              },
              "nct_ids": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "NCT ids",
                "items": {
                  "type": "string"
                }
              },
              "normalized_drug": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Drugs",
                "items": {
                  "type": "string"
                }
              },
              "phenotypes": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Phenotypes",
                "items": {
                  "type": "string"
                }
              },
              "pub_med_references": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "PubMed References",
                "items": {
                  "type": "integer"
                }
              },
              "rating": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Rating"
              },
              "representative_transcript": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Representative transcript"
              },
              "transcripts": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Transcripts",
                "items": {
                  "type": "field"
                }
              },
              "variant": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Variant"
              },
              "variant_civic_url": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Variant CIViC URL"
              },
              "variant_origin": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Variant origin"
              },
              "variant_summary": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Variant summary"
              },
              "gene_description": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Gene description"
              }
            }
          }
        }
      }
    },
    "aact": {
      "type": "object",
      "title": "Aggregate Analysis of Clinical Trials (CTTI AACT)",
      "properties": {
        "version": {
          "type": "string",
          "required": true,
          "read_only": false,
          "label": "Version"
        },
        "items": {
          "type": "array",
          "title": "Details",
          "items": {
            "type": "object",
            "properties": {
              "calculated_values": {
                "type": "array",
                "title": "Calculated values",
                "items": {
                  "type": "object",
                  "properties": {
                    "number_of_nsae_subjects": {
                      "type": "integer",
                      "required": false,
                      "read_only": false,
                      "label": "Number of NSAE subjects"
                    },
                    "number_of_sae_subjects": {
                      "type": "integer",
                      "required": false,
                      "read_only": false,
                      "label": "Number of SAE subjects"
                    },
                    "minumum_age": {
                      "type": "integer",
                      "required": false,
                      "read_only": false,
                      "label": "Minimum Age"
                    },
                    "maximum_age": {
                      "type": "integer",
                      "required": false,
                      "read_only": false,
                      "label": "Maximum Age"
                    },
                    "actual_duration": {
                      "type": "integer",
                      "required": false,
                      "read_only": false,
                      "label": "Actual duration"
                    }
                  }
                }
              },
              "completion_date": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Completion Date"
              },
              "conditions": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Conditions",
                "items": {
                  "type": "field"
                }
              },
              "designs": {
                "type": "array",
                "title": "Designs",
                "items": {
                  "type": "object",
                  "properties": {
                    "primary_purpose": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Primary purpose"
                    },
                    "allocation": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Allocation"
                    },
                    "intervention_model": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Intervention model"
                    },
                    "intervention_model_descr": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Intervention model description"
                    },
                    "time_perspective": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Time perspective"
                    },
                    "observational_model": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Observational model"
                    }
                  }
                }
              },
              "eligibilities": {
                "type": "array",
                "title": "Eligibility",
                "items": {
                  "type": "object",
                  "properties": {
                    "gender_based": {
                      "type": "boolean",
                      "required": false,
                      "read_only": false,
                      "label": "Gender based"
                    },
                    "criteria": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Criteria"
                    },
                    "healthy_volunteers": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Healthy volunteers"
                    },
                    "maximum_age": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Maximum Age"
                    },
                    "minimum_age": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Minimum Age"
                    },
                    "gender": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Gender"
                    },
                    "gender_description": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Gender description"
                    },
                    "sampling_method": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Sampling method"
                    },
                    "population": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Population"
                    }
                  }
                }
              },
              "facilities": {
                "type": "array",
                "title": "Facilities",
                "items": {
                  "type": "object",
                  "properties": {
                    "city": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "City"
                    },
                    "name": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Name"
                    },
                    "country": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Country"
                    },
                    "state": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "State"
                    },
                    "status": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Status"
                    }
                  }
                }
              },
              "genes": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Genes",
                "items": {
                  "type": "field"
                }
              },
              "interventions": {
                "type": "array",
                "title": "Interventions",
                "items": {
                  "type": "object",
                  "properties": {
                    "type": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Type"
                    },
                    "description": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Description"
                    },
                    "name": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Name"
                    },
                    "drug": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Drug"
                    }
                  }
                }
              },
              "is_fda_drug": {
                "type": "boolean",
                "required": false,
                "read_only": false,
                "label": "Is FDA drug"
              },
              "last_update_posted_date": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Last Update Posted Date"
              },
              "links": {
                "type": "array",
                "title": "Links",
                "items": {
                  "type": "object",
                  "properties": {
                    "url": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Url"
                    },
                    "description": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Description"
                    }
                  }
                }
              },
              "nct_id": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "NCT Id"
              },
              "outcomes": {
                "type": "array",
                "title": "Outcomes",
                "items": {
                  "type": "object",
                  "properties": {
                    "description": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Description"
                    },
                    "dispersion_type": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Dispersion type"
                    },
                    "time_frame": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Time frame"
                    },
                    "title": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Title"
                    },
                    "outcome_type": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Outcome type"
                    },
                    "units": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Units"
                    },
                    "units_analyzed": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Units analyzed"
                    },
                    "population": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Population"
                    },
                    "param_type": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Param type"
                    }
                  }
                }
              },
              "overall_officials": {
                "type": "array",
                "title": "Overall officials",
                "items": {
                  "type": "object",
                  "properties": {
                    "name": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Name"
                    },
                    "role": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Role"
                    },
                    "affiliation": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Affiliation"
                    }
                  }
                }
              },
              "phenotypes": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Phenotypes",
                "items": {
                  "type": "field"
                }
              },
              "primary_completion_date": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Primary Completion Date"
              },
              "population": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Population"
              },
              "pub_med_references": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "PUBMED References",
                "items": {
                  "type": "field"
                }
              },
              "source": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Source"
              },
              "sponsors": {
                "type": "array",
                "title": "Sponsors",
                "items": {
                  "type": "object",
                  "properties": {
                    "lead_or_collaborator": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Lead or collaborator"
                    },
                    "agency_class": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Agency class"
                    },
                    "name": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Name"
                    }
                  }
                }
              },
              "start_date": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Start Date"
              },
              "status": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Status"
              },
              "study_first_posted_date": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Study First Posted Date"
              },
              "study_type": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Study Type"
              },
              "title": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Title"
              },
              "unidentified_keywords": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Unidentified keywords",
                "items": {
                  "type": "field"
                }
              }
            }
          }
        }
      }
    },
    "dbnsfp_genes": {
      "type": "object",
      "title": "dbNSFP genes",
      "properties": {
        "version": {
          "type": "string",
          "required": true,
          "read_only": false,
          "label": "Version"
        },
        "items": {
          "type": "array",
          "title": "Details",
          "items": {
            "type": "object",
            "properties": {
              "kegg": {
                "type": "object",
                "title": "KEGG",
                "properties": {
                  "id": {
                    "type": "list",
                    "required": true,
                    "read_only": false,
                    "label": "id",
                    "items": {
                      "type": "field"
                    }
                  },
                  "full": {
                    "type": "list",
                    "required": true,
                    "read_only": false,
                    "label": "full",
                    "items": {
                      "type": "field"
                    }
                  }
                }
              },
              "expressions_rpkm": {
                "type": "nested object",
                "required": false,
                "read_only": false,
                "label": "RPKM"
              },
              "gene_symbol": {
                "type": "string",
                "required": true,
                "read_only": false,
                "label": "gene symbol"
              },
              "p_hi": {
                "type": "float",
                "required": false,
                "read_only": false,
                "label": "Probability of haploinsufficiency"
              },
              "gdi": {
                "type": "float",
                "required": false,
                "read_only": false,
                "label": "GDI"
              },
              "gdi_phred": {
                "type": "float",
                "required": false,
                "read_only": false,
                "label": "GDI Phred"
              },
              "loftool_score": {
                "type": "float",
                "required": false,
                "read_only": false,
                "label": "LoFtool Score"
              },
              "hipred": {
                "type": "boolean",
                "required": false,
                "read_only": false,
                "label": "HIPred"
              },
              "hipred_score": {
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            "rna_cancer_distribution": {
              "type": "string",
              "required": false,
              "read_only": false,
              "label": "Rna Cancer Distribution"
            },
            "rna_cancer_specificity": {
              "type": "string",
              "required": false,
              "read_only": false,
              "label": "Rna Cancer Specificity"
            },
            "rna_cancer_specificity_score": {
              "type": "string",
              "required": false,
              "read_only": false,
              "label": "Rna Cancer Specificity Score"
            },
            "rna_specific_fpkm": {
              "type": "string",
              "required": false,
              "read_only": false,
              "label": "Rna Specific Fpkm"
            },
            "uniprot_id": {
              "type": "string",
              "required": false,
              "read_only": false,
              "label": "Uniprot ID"
            }
          }
        },
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          "type": "array",
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          "items": {
            "type": "object",
            "properties": {
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                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Cancer Name"
              },
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                "type": "string",
                "required": false,
                "read_only": false,
                "label": "High Risk"
              },
              "low_risk": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Low Risk"
              },
              "medium_risk": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Medium Risk"
              },
              "normalized_cancer": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Normalized Cancer"
              },
              "not_detected": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Not Detected"
              }
            }
          }
        },
        "tissue_info": {
          "type": "array",
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          "items": {
            "type": "object",
            "properties": {
              "cell_type": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Cell Type"
              },
              "level": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Level"
              },
              "reliability": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Reliability"
              },
              "tissue_type": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Tissue Type"
              }
            }
          }
        }
      }
    },
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      "type": "object",
      "title": "Saphetor known pathogenicity",
      "properties": {
        "version": {
          "type": "string",
          "required": true,
          "read_only": false,
          "label": "Version"
        },
        "items": {
          "type": "array",
          "title": "Details",
          "items": {
            "type": "object",
            "properties": {
              "uncertain": {
                "type": "integer",
                "required": false,
                "read_only": false,
                "label": "Uncertain"
              },
              "totals": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Totals",
                "items": {
                  "type": "integer"
                }
              },
              "total_variants": {
                "type": "integer",
                "required": false,
                "read_only": false,
                "label": "Total variants"
              },
              "total_frequencies": {
                "type": "float",
                "required": false,
                "read_only": false,
                "label": "Total frequencies"
              },
              "synonymous": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Synonymous",
                "items": {
                  "type": "integer"
                }
              },
              "stop_loss": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Stop loss (deprecated)",
                "items": {
                  "type": "integer"
                }
              },
              "stoploss": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Stop loss",
                "items": {
                  "type": "integer"
                }
              },
              "start_loss": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Start loss",
                "items": {
                  "type": "integer"
                }
              },
              "frequency_histogram": {
                "type": "object",
                "title": "Frequency histogram",
                "properties": {
                  "uncertain": {
                    "type": "integer",
                    "required": false,
                    "read_only": false,
                    "label": "Uncertain"
                  },
                  "pathogenic": {
                    "type": "integer",
                    "required": false,
                    "read_only": false,
                    "label": "Pathogenic"
                  },
                  "benign": {
                    "type": "integer",
                    "required": false,
                    "read_only": false,
                    "label": "Benign"
                  },
                  "buckets": {
                    "type": "array",
                    "title": "Buckets",
                    "items": {
                      "type": "object",
                      "properties": {
                        "uncertain": {
                          "type": "integer",
                          "required": false,
                          "read_only": false,
                          "label": "Uncertain"
                        },
                        "to": {
                          "type": "float",
                          "required": false,
                          "read_only": false,
                          "label": "To"
                        },
                        "pathogenic": {
                          "type": "integer",
                          "required": false,
                          "read_only": false,
                          "label": "Pathogenic"
                        },
                        "benign": {
                          "type": "integer",
                          "required": false,
                          "read_only": false,
                          "label": "Benign"
                        },
                        "from": {
                          "type": "float",
                          "required": true,
                          "read_only": false,
                          "label": "From"
                        }
                      }
                    }
                  }
                }
              },
              "pathogenic": {
                "type": "integer",
                "required": false,
                "read_only": false,
                "label": "Pathogenic"
              },
              "splice_junction_loss": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Splice junction loss",
                "items": {
                  "type": "integer"
                }
              },
              "frequency_benign_threshold": {
                "type": "float",
                "required": false,
                "read_only": false,
                "label": "Frequency benign threshold"
              },
              "gene_id": {
                "type": "integer",
                "required": false,
                "read_only": false,
                "label": "Gene id"
              },
              "frameshift": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Frameshift",
                "items": {
                  "type": "integer"
                }
              },
              "benign": {
                "type": "integer",
                "required": false,
                "read_only": false,
                "label": "Benign"
              },
              "exon_deletion": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Exon deletion",
                "items": {
                  "type": "integer"
                }
              },
              "gene_symbol": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Gene symbol"
              },
              "in_frame": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "In frame",
                "items": {
                  "type": "integer"
                }
              },
              "missense": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Missense",
                "items": {
                  "type": "integer"
                }
              },
              "most_common_pathogenic_variant": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Most common pathogenic variant"
              },
              "most_common_pathogenic_variant_ethnicity": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Most common pathogenic variant ethnicity"
              },
              "nonsense": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Nonsense",
                "items": {
                  "type": "integer"
                }
              },
              "most_common_pathogenic_variant_frequency": {
                "type": "float",
                "required": false,
                "read_only": false,
                "label": "Most common pathogenic variant frequency"
              },
              "furthest_pathogenic_variant": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Furthest pathogenic variant"
              },
              "furthest_pathogenic_codon": {
                "type": "integer",
                "required": false,
                "read_only": false,
                "label": "Furthest pathogenic codon"
              },
              "furthest_pathogenic_exon": {
                "type": "integer",
                "required": false,
                "read_only": false,
                "label": "Furthest pathogenic exon"
              },
              "furthest_transcript": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Furthest transcript"
              },
              "furthest_transcript_exon_count": {
                "type": "integer",
                "required": false,
                "read_only": false,
                "label": "Furthest pathogenic exon count"
              },
              "exons": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Exons",
                "items": {
                  "type": "field"
                }
              },
              "frequency_pathogenic_total": {
                "type": "float",
                "required": false,
                "read_only": false,
                "label": "Frequency pathogenic total"
              },
              "non_coding": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Non coding",
                "items": {
                  "type": "integer"
                }
              }
            }
          }
        }
      }
    },
    "ebi_gene_2_phenotype": {
      "type": "object",
      "title": "EBI Gene 2 Phenotype",
      "properties": {
        "version": {
          "type": "string",
          "required": true,
          "read_only": false,
          "label": "Version"
        },
        "items": {
          "type": "array",
          "title": "Details",
          "items": {
            "type": "object",
            "properties": {
              "disease": {
                "type": "string",
                "required": true,
                "read_only": false,
                "label": "Disease"
              },
              "verdict": {
                "type": "string",
                "required": true,
                "read_only": false,
                "label": "Verdict"
              },
              "expert_panel": {
                "type": "string",
                "required": true,
                "read_only": false,
                "label": "Expert Panel"
              },
              "inheritance": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Inheritance"
              },
              "organs": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "Organs",
                "items": {
                  "type": "string"
                }
              },
              "pub_med_references": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "PubMed References",
                "items": {
                  "type": "string"
                }
              }
            }
          }
        }
      }
    },
    "gen_cc": {
      "type": "object",
      "title": "GenCC GenCC",
      "properties": {
        "version": {
          "type": "string",
          "required": true,
          "read_only": false,
          "label": "Version"
        },
        "items": {
          "type": "array",
          "title": "Details",
          "items": {
            "type": "object",
            "properties": {
              "disease": {
                "type": "string",
                "required": true,
                "read_only": false,
                "label": "Disease"
              },
              "verdict": {
                "type": "string",
                "required": true,
                "read_only": false,
                "label": "Verdict"
              },
              "expert_panel": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Expert Panel"
              },
              "inheritance": {
                "type": "string",
                "required": true,
                "read_only": false,
                "label": "Inheritance"
              },
              "pub_med_references": {
                "type": "list",
                "required": false,
                "read_only": false,
                "label": "PubMed References",
                "items": {
                  "type": "string"
                }
              }
            }
          }
        }
      }
    },
    "nih_clin_gen_disease_validity": {
      "type": "object",
      "title": "NIH ClinGen Disease Validity",
      "properties": {
        "version": {
          "type": "string",
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          "read_only": false,
          "label": "Version"
        },
        "items": {
          "type": "array",
          "title": "Details",
          "items": {
            "type": "object",
            "properties": {
              "disease": {
                "type": "string",
                "required": true,
                "read_only": false,
                "label": "Disease"
              },
              "verdict": {
                "type": "string",
                "required": true,
                "read_only": false,
                "label": "Verdict"
              },
              "expert_panel": {
                "type": "string",
                "required": true,
                "read_only": false,
                "label": "Expert Panel"
              }
            }
          }
        }
      }
    },
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      "title": "JHU OMIM",
      "properties": {
        "version": {
          "type": "string",
          "required": true,
          "read_only": false,
          "label": "Version"
        },
        "items": {
          "type": "array",
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                "type": "integer",
                "required": false,
                "read_only": false,
                "label": "OMIM ID"
              },
              "date_updated": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Date entry last updated"
              },
              "prefix": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Entry prefix"
              },
              "title": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Gene name"
              },
              "type": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Entry type"
              },
              "cyto_location": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Cyto location"
              },
              "computed_cyto_location": {
                "type": "string",
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                "read_only": false,
                "label": "Computed cyto location"
              },
              "chromosome_symbol": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Chromosome symbol"
              },
              "chromosome_sort": {
                "type": "integer",
                "required": false,
                "read_only": false,
                "label": "Chromosome sort"
              },
              "mouse_gene_symbol": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Mouse gene symbol"
              },
              "mouse_gene_id": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Mouse gene ID"
              },
              "transcript": {
                "type": "string",
                "required": false,
                "read_only": false,
                "label": "Transcript"
              },
              "texts": {
                "type": "array",
                "title": "Texts",
                "items": {
                  "type": "object",
                  "properties": {
                    "title": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Title"
                    },
                    "content": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Content"
                    }
                  }
                }
              },
              "references": {
                "type": "array",
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                "items": {
                  "type": "object",
                  "properties": {
                    "pub_med_references": {
                      "type": "list",
                      "required": false,
                      "read_only": false,
                      "label": "PubMedIds",
                      "items": {
                        "type": "integer"
                      }
                    },
                    "reference_number": {
                      "type": "integer",
                      "required": false,
                      "read_only": false,
                      "label": "Reference number in texts"
                    },
                    "title": {
                      "type": "string",
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                      "read_only": false,
                      "label": "Reference title"
                    },
                    "source": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Reference source"
                    },
                    "authors": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Reference authors"
                    }
                  }
                }
              },
              "phenotypes": {
                "type": "array",
                "title": "Phenotypes",
                "items": {
                  "type": "object",
                  "properties": {
                    "phenotype_name": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Phenotype name"
                    },
                    "phenotype_mapping_key": {
                      "type": "integer",
                      "required": false,
                      "read_only": false,
                      "label": "Mapping key, see OMIM FAQ"
                    },
                    "omim_id": {
                      "type": "integer",
                      "required": false,
                      "read_only": false,
                      "label": "Phenotype OMIM ID"
                    },
                    "phenotypic_series": {
                      "type": "string",
                      "required": false,
                      "read_only": false,
                      "label": "Phenotypic series"
                    },
                    "mode_of_inheritance": {
                      "type": "list",
                      "required": false,
                      "read_only": false,
                      "label": "Mode of inheritance",
                      "items": {
                        "type": "string"
                      }
                    }
                  }
                }
              }
            }
          }
        }
      }
    }
  }
}