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        "title": "Molecular pathology of haemophilia B.",
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        "title": "Blood clotting factor IX Kashihara: amino acid substitution of valine-182 by phenylalanine.",
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                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel).",
        "journal": "Nucleic acids research",
        "date": "1989",
        "authors": "Poort SR, Briet E, Bertina RM, Reitsma PH",
        "reference": {
            "type": "PubMed",
            "id": "2762170",
            "url": "https://pubmed.ncbi.nlm.nih.gov/2762170"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P00740-1",
                "protein_name": "Coagulation factor IX",
                "gene_name": "F9",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P00740",
                        "url": "https://www.uniprot.org/uniprotkb/P00740"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "P00740",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P00740"
                    },
                    {
                        "id": "rs137852233",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852233"
                    },
                    {
                        "id": "rs137852233",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs137852233"
                    },
                    {
                        "id": "2762170",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/2762170"
                    },
                    {
                        "id": "2929599",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/2929599"
                    },
                    {
                        "id": "3262389",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/3262389"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-gain"
                ],
                "start_pos": 106,
                "end_pos": 106,
                "subjects_tested": "719",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "G",
                "sequence_mut": "S",
                "comment": "Somatic mutation passed 2 filters: num. of cancers (3); n-glyco-sequon-gain (NGG->NGS).",
                "chr_id": "23",
                "chr_pos": "139541114",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "G106",
                "disease": [
                    {
                        "disease_id": "DOID:11934",
                        "recommended_name": {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck cancer",
                            "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck tumours",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head/neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "tumor of head and neck",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1542"
                        ],
                        "evidence": [
                            {
                                "id": "11934",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11934"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:1319",
                        "recommended_name": {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1319",
                            "name": "brain cancer",
                            "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "BT - Brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult malignant brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm, adult",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of Brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of adult brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary malignant neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "tumor of the Brain",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4203",
                            "DOID:3541",
                            "DOID:4706",
                            "DOID:1659",
                            "DOID:368"
                        ],
                        "evidence": [
                            {
                                "id": "1319",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1319"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2531",
                        "recommended_name": {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic malignancy",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematological tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "blood cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0081452",
                            "DOID:706",
                            "DOID:1039",
                            "DOID:5604",
                            "DOID:6536",
                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:0050743",
                            "DOID:4960",
                            "DOID:8527",
                            "DOID:1036",
                            "DOID:5772"
                        ],
                        "evidence": [
                            {
                                "id": "2531",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2531"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:12259",
                        "recommended_name": {
                            "id": "DOID:12259",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12259",
                            "name": "hemophilia B",
                            "description": "A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:12259",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12259",
                                "name": "Congenital factor IX deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:12259",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12259",
                                "name": "Congenital factor IX disorder",
                                "description": ""
                            },
                            {
                                "id": "DOID:12259",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12259",
                                "name": "deficiency, functional factor IX",
                                "description": ""
                            },
                            {
                                "id": "DOID:12259",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12259",
                                "name": "factor IX deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hemophilia B",
                                "description": "Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency."
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "Christmas disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "congenital factor IX deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "congenital factor IX disorder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "factor IX deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "haemophilia b, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "haemophilia type B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hemophilia B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hemophilia b, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hemophilia type B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hereditary Factor IX deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hereditary Factor IX deficiency disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "HEMB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "haemophilia B Leyden",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "haemophilia B(M)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hem B",
                                "description": ""
                            },
                            {
                                "id": "MIM:306900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/306900",
                                "name": "Hemophilia B",
                                "description": "Hemophilia B"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12259",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12259"
                            },
                            {
                                "id": "12259",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12259"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111899",
                        "recommended_name": {
                            "id": "DOID:0111899",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111899",
                            "name": "X-linked thrombophilia due to factor IX defect",
                            "description": "A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111899",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111899",
                                "name": "THPH8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010432",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010432",
                                "name": "thrombophilia, X-linked, due to factor 9 defect",
                                "description": "A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9)."
                            },
                            {
                                "id": "MONDO:0010432",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010432",
                                "name": "deep venous thrombosis, protection against, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010432",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010432",
                                "name": "thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010432",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010432",
                                "name": "thrombophilia, X-linked, due to factor 9 defect",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010432",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010432",
                                "name": "thrombophilia, X-linked, due to factor IX defect",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010432",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010432",
                                "name": "THPH8",
                                "description": ""
                            },
                            {
                                "id": "MIM:300807",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/300807",
                                "name": "Thrombophilia, X-linked, due to factor IX defect",
                                "description": "Thrombophilia, X-linked, due to factor IX defect"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "300807",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/300807"
                            },
                            {
                                "id": "0111899",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111899"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080839",
                        "recommended_name": {
                            "id": "DOID:0080839",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080839",
                            "name": "X-linked warfarin sensitivity",
                            "description": "An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0026768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0026768",
                                "name": "obsolete warfarin sensitivity, X-linked",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0026768",
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    {
        "title": "Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.",
        "journal": "Blood",
        "date": "2017",
        "authors": "Branchini A, Ferrarese M, Campioni M, Castaman G, Mari R, Bernardi F, Pinotti M",
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    {
        "title": "Factor IXPortland: a nonsense mutation (CGA to TGA) resulting in hemophilia B.",
        "journal": "American journal of human genetics",
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        "authors": "Chen SH, Scott CR, Schoof J, Lovrien EW, Kurachi K",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head and neck tumours",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "head/neck neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:11934",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:11934",
                                "name": "tumor of head and neck",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:1542"
                        ],
                        "evidence": [
                            {
                                "id": "11934",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:11934"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:1319",
                        "recommended_name": {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1319",
                            "name": "brain cancer",
                            "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "BT - Brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "adult malignant brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "brain neoplasm, adult",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of Brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "malignant tumor of adult brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "primary malignant neoplasm of brain",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1319",
                                "name": "tumor of the Brain",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4203",
                            "DOID:3541",
                            "DOID:4706",
                            "DOID:1659",
                            "DOID:368"
                        ],
                        "evidence": [
                            {
                                "id": "1319",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1319"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2531",
                        "recommended_name": {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2531",
                            "name": "hematologic cancer",
                            "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic malignancy",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematologic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "Hematological tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "blood cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic and lymphoid system tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "hematopoietic tumors",
                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
                                "name": "malignant hematopoietic neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:0081452",
                            "DOID:706",
                            "DOID:1039",
                            "DOID:5604",
                            "DOID:6536",
                            "DOID:0080638",
                            "DOID:7757",
                            "DOID:0050743",
                            "DOID:4960",
                            "DOID:8527",
                            "DOID:1036",
                            "DOID:5772"
                        ],
                        "evidence": [
                            {
                                "id": "2531",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2531"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:12259",
                        "recommended_name": {
                            "id": "DOID:12259",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:12259",
                            "name": "hemophilia B",
                            "description": "A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:12259",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12259",
                                "name": "Congenital factor IX deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:12259",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12259",
                                "name": "Congenital factor IX disorder",
                                "description": ""
                            },
                            {
                                "id": "DOID:12259",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12259",
                                "name": "deficiency, functional factor IX",
                                "description": ""
                            },
                            {
                                "id": "DOID:12259",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:12259",
                                "name": "factor IX deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hemophilia B",
                                "description": "Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency."
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "Christmas disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "congenital factor IX deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "congenital factor IX disorder",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "factor IX deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "haemophilia b, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "haemophilia type B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hemophilia B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hemophilia b, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hemophilia type B",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hereditary Factor IX deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hereditary Factor IX deficiency disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "HEMB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "haemophilia B Leyden",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "haemophilia B(M)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010604",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010604",
                                "name": "hem B",
                                "description": ""
                            },
                            {
                                "id": "MIM:306900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/306900",
                                "name": "Hemophilia B",
                                "description": "Hemophilia B"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "12259",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12259"
                            },
                            {
                                "id": "12259",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:12259"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111899",
                        "recommended_name": {
                            "id": "DOID:0111899",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111899",
                            "name": "X-linked thrombophilia due to factor IX defect",
                            "description": "A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111899",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111899",
                                "name": "THPH8",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010432",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010432",
                                "name": "thrombophilia, X-linked, due to factor 9 defect",
                                "description": "A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9)."
                            },
                            {
                                "id": "MONDO:0010432",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010432",
                                "name": "deep venous thrombosis, protection against, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010432",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010432",
                                "name": "thrombophilia 8, X-linked, due to factor IX defect, X-linked recessive",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010432",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010432",
                                "name": "thrombophilia, X-linked, due to factor 9 defect",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010432",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010432",
                                "name": "thrombophilia, X-linked, due to factor IX defect",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010432",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010432",
                                "name": "THPH8",
                                "description": ""
                            },
                            {
                                "id": "MIM:300807",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/300807",
                                "name": "Thrombophilia, X-linked, due to factor IX defect",
                                "description": "Thrombophilia, X-linked, due to factor IX defect"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "300807",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/300807"
                            },
                            {
                                "id": "0111899",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111899"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080839",
                        "recommended_name": {
                            "id": "DOID:0080839",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080839",
                            "name": "X-linked warfarin sensitivity",
                            "description": "An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0026768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0026768",
                                "name": "obsolete warfarin sensitivity, X-linked",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0026768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0026768",
                                "name": "Warfarin sensitivity",
                                "description": ""
                            },
                            {
                                "id": "MIM:301052",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/301052",
                                "name": "Warfarin sensitivity, X-linked",
                                "description": "Warfarin sensitivity, X-linked"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "301052",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/301052"
                            },
                            {
                                "id": "0080839",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080839"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ],
                "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.11.000.100",
                "uniprot_canonical_ac": "P00740-1"
            }
        ],
        "record_id": "pubmed.3262389",
        "abstract": "",
        "glycosylation": [],
        "mutagenesis": [],
        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
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                "table_id": "referenced_proteins",
                "table_stats": [
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                ],
                "sort_fields": [
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                ],
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            {
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        "title": "Genomic amplification with transcript sequencing.",
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        "authors": "Spitzer S G, Pendurthi U R, Kasper C K, Bajaj S P",
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    {
        "title": "Molecular basis of vitamin-K-driven \u03b3-carboxylation at the membrane interface.",
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        "date": "2025-03",
        "authors": "Cao Qing, Ammerman Aaron, Saimi Mierxiati, Lin Zongtao, Shen Guomin, Chen Huaping, Sun Jie, Chai Mengqi, Liu Shixuan, Hsu Fong-Fu, Krezel Andrzej M, Gross Michael L, Xu Jinbin, Garcia Benjamin A, Liu Bin, Li Weikai",
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                "name": "Homo sapiens",
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                ],
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        ],
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                    {
                        "id": "9BVP",
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                    {
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                    {
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                    {
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                    {
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                        "id": "9MQB",
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                    {
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