{
    "assessed_biomarker_entity": "CYP17 A2 allele polymorphism (CYP17A2)",
    "assessed_entity_type": "gene",
    "components": {
        "protein": [
            {
                "accession": "P05093-1",
                "name": "Steroid 17-alpha-hydroxylase/17,20 lyase",
                "evidence": [
                    {
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                        "url": "https://data.glygen.org/GLY_000625"
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        "glycan": []
    },
    "instances": [
        {
            "best_biomarker_type": "risk",
            "status": "presence of",
            "notes": "Specimen type is white blood cell (CL_0000738)|UPKB:P05093",
            "literature_evidence": "Our data indicate that the CYP17 A2 allele polymorphism may confer an increased risk and can provide a biomarker for ovarian cancer patients in whom no mutations in the BRCA genes are observed. [PMID:16783967]",
            "loinc_code": "77057-8",
            "tissue": {
                "name": "blood",
                "namespace": "UBERON",
                "id": "0000178",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000178"
            },
            "disease": {
                "disease_id": "DOID:2394",
                "recommended_name": {
                    "id": "DOID:2394",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:2394",
                    "name": "ovarian cancer",
                    "description": "A female reproductive organ cancer that is located_in the ovary."
                },
                "synonyms": [
                    {
                        "id": "DOID:2394",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:2394",
                        "name": "malignant Ovarian tumor",
                        "description": ""
                    },
                    {
                        "id": "DOID:2394",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:2394",
                        "name": "malignant tumour of ovary",
                        "description": ""
                    },
                    {
                        "id": "DOID:2394",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:2394",
                        "name": "ovarian neoplasm",
                        "description": ""
                    },
                    {
                        "id": "DOID:2394",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:2394",
                        "name": "ovary neoplasm",
                        "description": ""
                    },
                    {
                        "id": "DOID:2394",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:2394",
                        "name": "primary ovarian cancer",
                        "description": ""
                    },
                    {
                        "id": "DOID:2394",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:2394",
                        "name": "tumor of the Ovary",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0011931",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                        "name": "ovarian cancer, susceptibility to, 1",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0011931",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                        "name": "OVCAS1",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0011931",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                        "name": "ovarian cancer, susceptibility to",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0011931",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0011931",
                        "name": "ovarian cancer, susceptibility to, 1",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "ovarian cancer",
                        "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas."
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "ovarian neoplasm",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "ovary neoplasm",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "tumor of the ovary",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "cancer of ovary",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "cancer of the ovary",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "malignant neoplasm of ovary",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "malignant neoplasm of the ovary",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "malignant ovarian neoplasm",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "malignant ovarian tumor",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "malignant ovary neoplasm",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "malignant tumor of ovary",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "malignant tumor of the ovary",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "malignant tumour of ovary",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "ovarian cancer",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "ovarian cancer, somatic",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "ovarian malignant tumor",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "ovary cancer",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "ovarian cancer, epithelial",
                        "description": ""
                    },
                    {
                        "id": "MONDO:0008170",
                        "resource": "MONDO",
                        "url": "https://monarchinitiative.org/disease/MONDO:0008170",
                        "name": "primary ovarian cancer",
                        "description": ""
                    },
                    {
                        "id": "MIM:167000",
                        "resource": "MIM",
                        "url": "https://www.omim.org/entry/167000",
                        "name": "Ovarian cancer",
                        "description": "Ovarian cancer"
                    }
                ]
            },
            "evidence": [
                {
                    "id": "GLY_000625",
                    "database": "GlyGen",
                    "url": "https://data.glygen.org/GLY_000625"
                },
                {
                    "id": "16783967",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/16783967"
                }
            ]
        }
    ],
    "publication": [
        {
            "title": "Are CYP17 genotypes a biomarker for ovarian cancer in patients with cancer history in their family?",
            "journal": "Oncology research",
            "authors": "Yazici H, Tigli H, Kadehci Z, Kucucuk S, Saip P, Issever H, Ozcelik H, Dalay N",
            "date": "2006",
            "reference": [
                {
                    "type": "PubMed",
                    "id": "16783967",
                    "url": "https://glygen.org/publication/PubMed/16783967"
                }
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                    "id": "GLY_000625",
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                    "url": "https://data.glygen.org/GLY_000625"
                }
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            "id": "16783967",
            "database": "PubMed",
            "url": "https://glygen.org/publication/PubMed/16783967"
        }
    ],
    "biomarker_id": "A0346",
    "aclist": [
        "P05093-1"
    ],
    "crossref": [],
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