{
    "uniprot_canonical_ac": "P01008-1",
    "uniprot_ac": "P01008",
    "uniprot_id": "ANT3_HUMAN",
    "mass": {
        "chemical_mass": 52602.0,
        "monoisotopic_mass": 52602.0
    },
    "refseq": {
        "ac": "NP_000479",
        "name": "antithrombin-III isoform 1 precursor",
        "summary": "The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020].",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000479"
    },
    "gene_names": [
        {
            "name": "SERPINC1",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/P01008",
            "id": "P01008"
        },
        {
            "name": "AT3; AT3D; ATIII; ATIII-R2; ATIII-T1; ATIII-T2; THPH7",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000479",
            "id": "NP_000479"
        },
        {
            "name": "AT3",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/P01008",
            "id": "P01008"
        },
        {
            "name": "PRO0309",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/P01008",
            "id": "P01008"
        },
        {
            "name": "SERPINC1",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000479",
            "id": "NP_000479"
        }
    ],
    "protein_names": [
        {
            "name": "Antithrombin-III",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "P01008"
        },
        {
            "name": "ATIII",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P01008"
        },
        {
            "name": "Serpin C1",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P01008"
        },
        {
            "name": "antithrombin-III isoform 1 precursor",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000479",
            "id": "NP_000479"
        },
        {
            "name": "serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1; antithrombin-III; serpin peptidase inhibitor clade C member 1; serpin peptidase inhibitor, clade C (antithrombin), member 1",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000479",
            "id": "NP_000479"
        }
    ],
    "function": [
        {
            "annotation": "Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000479",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000479"
                },
                {
                    "database": "PubMed",
                    "id": "37201530",
                    "url": "https://glygen.org/publication/PubMed/37201530"
                }
            ]
        },
        {
            "annotation": "Antithrombin Deficiency: Frequency in Patients with Thrombosis and Thrombophilic Families.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000479",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000479"
                },
                {
                    "database": "PubMed",
                    "id": "37384805",
                    "url": "https://glygen.org/publication/PubMed/37384805"
                }
            ]
        },
        {
            "annotation": "Molecular analysis may be the best method to identify antithrombin deficiency. Up to 80% of patients with antithrombin deficiency have SERPINC1 gene defects, mostly (90% of the 315 gene defects described so far) point mutations or small deletions or insertions affecting the 7 exons or flanking regions. [review] Review article",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000479",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000479"
                },
                {
                    "database": "PubMed",
                    "id": "30005274",
                    "url": "https://glygen.org/publication/PubMed/30005274"
                }
            ]
        },
        {
            "annotation": "Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade (PubMed:15853774, PubMed:15140129). AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa (PubMed:15140129). Its inhibitory activity is greatly enhanced in the presence of heparin.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P01008",
                    "url": "https://www.uniprot.org/uniprot/P01008#function"
                },
                {
                    "database": "PubMed",
                    "id": "15140129",
                    "url": "https://glygen.org/publication/PubMed/15140129"
                },
                {
                    "database": "PubMed",
                    "id": "15853774",
                    "url": "https://glygen.org/publication/PubMed/15853774"
                }
            ]
        },
        {
            "annotation": "Studies indicate that antithrombin III (ATIII) and its gene SerpinC1 may be related to many diseases, including hypertension and kidney diseases. Review article",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000479",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000479"
                },
                {
                    "database": "PubMed",
                    "id": "28424376",
                    "url": "https://glygen.org/publication/PubMed/28424376"
                }
            ]
        },
        {
            "annotation": "The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020].",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000479",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000479"
                }
            ]
        },
        {
            "annotation": "Understanding the andromeda strain - The role of cytokine release, coagulopathy and antithrombin III in SARS-CoV2 critical illness. Review article",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000479",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000479"
                },
                {
                    "database": "PubMed",
                    "id": "32829961",
                    "url": "https://glygen.org/publication/PubMed/32829961"
                }
            ]
        }
    ],
    "disease": [
        {
            "disease_id": "DOID:3755",
            "recommended_name": {
                "id": "DOID:3755",
                "resource": "Disease Ontology",
                "url": "http://disease-ontology.org/term/DOID:3755",
                "name": "antithrombin III deficiency",
                "description": "A thrombophilia that is characterized by the tendency to form clots in the veins."
            },
            "synonyms": [
                {
                    "id": "DOID:3755",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:3755",
                    "name": "AT III deficiency",
                    "description": ""
                },
                {
                    "id": "DOID:3755",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:3755",
                    "name": "hereditary thrombophilia due to congenital antithrombin deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "hereditary antithrombin deficiency",
                    "description": "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)."
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "AT III deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "AT3D",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "antithrombin 3 deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "antithrombin III deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "congenital AT-III deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "congenital antithrombin III deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "hereditary antithrombin deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "hereditary thrombophilia due to congenital antithrombin 3 deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "hereditary thrombophilia due to congenital antithrombin deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "inherited antithrombin deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "thrombophilia 7 due to antithrombin III deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "thrombophilia due to antithrombin 3 deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013144",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                    "name": "thrombophilia due to antithrombin III deficiency",
                    "description": ""
                },
                {
                    "id": "MIM:613118",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/613118",
                    "name": "Antithrombin III deficiency",
                    "description": "Antithrombin III deficiency"
                }
            ],
            "evidence": [
                {
                    "id": "613118",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613118"
                }
            ]
        }
    ],
    "snv": [
        {
            "evidence": [
                {
                    "id": "rs757851817",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757851817"
                },
                {
                    "id": "rs757851817",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757851817"
                },
                {
                    "id": "rs757851817",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs757851817"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 105,
            "end_pos": 105,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDN->NDS).",
            "chr_id": "1",
            "chr_pos": "173914647",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N105",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1657909645",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1657909645"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 114,
            "end_pos": 114,
            "sequence_org": "S",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIS->NIS).",
            "chr_id": "1",
            "chr_pos": "173914620",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S114",
            "disease": [
                {
                    "disease_id": "DOID:3755",
                    "recommended_name": {
                        "id": "DOID:3755",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:3755",
                        "name": "antithrombin III deficiency",
                        "description": "A thrombophilia that is characterized by the tendency to form clots in the veins."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:3755",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3755",
                            "name": "AT III deficiency",
                            "description": ""
                        },
                        {
                            "id": "DOID:3755",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3755",
                            "name": "hereditary thrombophilia due to congenital antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary antithrombin deficiency",
                            "description": "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)."
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "AT III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "AT3D",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "antithrombin 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "antithrombin III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "congenital AT-III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "congenital antithrombin III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary thrombophilia due to congenital antithrombin 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary thrombophilia due to congenital antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "inherited antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "thrombophilia 7 due to antithrombin III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "thrombophilia due to antithrombin 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "thrombophilia due to antithrombin III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MIM:613118",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613118",
                            "name": "Antithrombin III deficiency",
                            "description": "Antithrombin III deficiency"
                        }
                    ]
                }
            ],
            "keywords": [
                "ebi",
                "germline",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1572091795",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1572091795"
                },
                {
                    "id": "rs1572091795",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs1572091795"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 130,
            "end_pos": 130,
            "sequence_org": "T",
            "sequence_mut": "P",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->NDP).",
            "chr_id": "1",
            "chr_pos": "173914573",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T130",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs121909570",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909570"
                },
                {
                    "id": "rs121909570",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909570#frequency_tab"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 167,
            "end_pos": 167,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->SKS).",
            "chr_id": "1",
            "chr_pos": "173911923",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N167",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs121909570",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909570"
                },
                {
                    "id": "rs121909570",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909570#frequency_tab"
                },
                {
                    "id": "10361121",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/10361121"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 167,
            "end_pos": 167,
            "sequence_org": "N",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->TKS).",
            "chr_id": "1",
            "chr_pos": "173911923",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N167",
            "disease": [
                {
                    "disease_id": "DOID:3755",
                    "recommended_name": {
                        "id": "DOID:3755",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:3755",
                        "name": "antithrombin III deficiency",
                        "description": "A thrombophilia that is characterized by the tendency to form clots in the veins."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:3755",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3755",
                            "name": "AT III deficiency",
                            "description": ""
                        },
                        {
                            "id": "DOID:3755",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3755",
                            "name": "hereditary thrombophilia due to congenital antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary antithrombin deficiency",
                            "description": "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)."
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "AT III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "AT3D",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "antithrombin 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "antithrombin III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "congenital AT-III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "congenital antithrombin III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary thrombophilia due to congenital antithrombin 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary thrombophilia due to congenital antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "inherited antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "thrombophilia 7 due to antithrombin III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "thrombophilia due to antithrombin 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "thrombophilia due to antithrombin III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MIM:613118",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613118",
                            "name": "Antithrombin III deficiency",
                            "description": "Antithrombin III deficiency"
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                    ]
                }
            ],
            "keywords": [
                "ebi",
                "germline",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs483352851",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs483352851"
                },
                {
                    "id": "rs483352851",
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                    "url": "https://www.ensembl.org/id/rs483352851"
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            ],
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                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
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            "end_pos": 169,
            "sequence_org": "S",
            "sequence_mut": "F",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->NKF).",
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                {
                    "disease_id": "DOID:0080325",
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                        "url": "http://disease-ontology.org/term/DOID:0080325",
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                        {
                            "id": "MONDO:0013199",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
                            "name": "tuberous sclerosis 2",
                            "description": "Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene)."
                        },
                        {
                            "id": "MONDO:0013199",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
                            "name": "tuberous sclerosis 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013199",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
                            "name": "tuberous sclerosis type 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013199",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
                            "name": "tuberous sclerosis-2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013199",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
                            "name": "TSC2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013199",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
                            "name": "TSC2 Angiomyolipomas, renal, modifier of",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013199",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013199",
                            "name": "tuberous sclerosis, type 2",
                            "description": ""
                        },
                        {
                            "id": "MIM:613254",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613254",
                            "name": "Tuberous sclerosis 2",
                            "description": "Tuberous sclerosis 2"
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                    ]
                }
            ],
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                "ebi",
                "germline",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1195137809",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195137809"
                },
                {
                    "id": "rs1195137809",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1195137809#frequency_tab"
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            ],
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                "o-glyco-site-loss"
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            "sequence_org": "S",
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            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->NKP).",
            "chr_id": "1",
            "chr_pos": "173911918",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S169",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P01008",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P01008"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 169,
            "end_pos": 169,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "S",
            "sequence_mut": "Y",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NKS->NKY).",
            "chr_id": "1",
            "chr_pos": "173911917",
            "ref_nt": "G",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "S169",
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                {
                    "disease_id": "DOID:11934",
                    "recommended_name": {
                        "id": "DOID:11934",
                        "resource": "Disease Ontology",
                        "url": "http://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": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck tumours",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head/neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "tumor of head and neck",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
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        },
        {
            "evidence": [
                {
                    "id": "rs1553218111",
                    "database": "dbSNP",
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                },
                {
                    "id": "rs1553218111",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs1553218111"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
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            "sequence_org": "W",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKW->NKS).",
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            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "W221",
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                        "url": "http://disease-ontology.org/term/DOID:3755",
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                        {
                            "id": "DOID:3755",
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                        {
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                        {
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                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
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                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
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                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
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                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
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                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
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                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary thrombophilia due to congenital antithrombin 3 deficiency",
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                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary thrombophilia due to congenital antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "thrombophilia 7 due to antithrombin III deficiency",
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                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "thrombophilia due to antithrombin 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
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                        },
                        {
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                            "url": "https://www.omim.org/entry/613118",
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                    ]
                }
            ],
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                "germline",
                "disease"
            ]
        },
        {
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                    "id": "rs146733468",
                    "database": "dbSNP",
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                },
                {
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                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs146733468#frequency_tab"
                },
                {
                    "id": "rs146733468",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs146733468"
                }
            ],
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            ],
            "start_pos": 224,
            "end_pos": 224,
            "sequence_org": "N",
            "sequence_mut": "D",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->DKT).",
            "chr_id": "1",
            "chr_pos": "173910846",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N224",
            "keywords": [
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                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs146733468",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146733468"
                },
                {
                    "id": "rs146733468",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs146733468#frequency_tab"
                },
                {
                    "id": "rs146733468",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs146733468"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 224,
            "end_pos": 224,
            "sequence_org": "N",
            "sequence_mut": "Y",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKT->YKT).",
            "chr_id": "1",
            "chr_pos": "173910846",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N224",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1423630663",
                    "database": "dbSNP",
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                },
                {
                    "id": "rs1423630663",
                    "database": "TOPMed",
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            ],
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            "start_pos": 251,
            "end_pos": 251,
            "sequence_org": "I",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTI->NTT).",
            "chr_id": "1",
            "chr_pos": "173910764",
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            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "I251",
            "disease": [
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                        {
                            "id": "DOID:3755",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3755",
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                            "description": ""
                        },
                        {
                            "id": "DOID:3755",
                            "resource": "Disease Ontology",
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                        {
                            "id": "MONDO:0013144",
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                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
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                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
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                            "name": "AT III deficiency",
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                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "antithrombin 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
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                        },
                        {
                            "id": "MONDO:0013144",
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                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
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                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
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                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary thrombophilia due to congenital antithrombin 3 deficiency",
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                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
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                        {
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                        {
                            "id": "MONDO:0013144",
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                        {
                            "id": "MONDO:0013144",
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                        {
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                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758603270"
                },
                {
                    "id": "rs758603270",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758603270"
                },
                {
                    "id": "rs758603270",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs758603270#frequency_tab"
                },
                {
                    "id": "rs758603270",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs758603270"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 452,
            "end_pos": 452,
            "sequence_org": "I",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTI->NTT).",
            "chr_id": "1",
            "chr_pos": "173903929",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "I452",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs753713846",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753713846"
                },
                {
                    "id": "rs753713846",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753713846"
                },
                {
                    "id": "rs753713846",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs753713846"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 6,
            "end_pos": 6,
            "sequence_org": "I",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVI->NVT).",
            "chr_id": "1",
            "chr_pos": "173917243",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "I6",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs121909547",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909547"
                },
                {
                    "id": "rs121909547",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909547"
                },
                {
                    "id": "rs121909547",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909547#frequency_tab"
                },
                {
                    "id": "rs121909547",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909547"
                },
                {
                    "id": "2365065",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/2365065"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 79,
            "end_pos": 79,
            "sequence_org": "R",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRR->NRS).",
            "chr_id": "1",
            "chr_pos": "173914726",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "R79",
            "disease": [
                {
                    "disease_id": "DOID:3755",
                    "recommended_name": {
                        "id": "DOID:3755",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:3755",
                        "name": "antithrombin III deficiency",
                        "description": "A thrombophilia that is characterized by the tendency to form clots in the veins."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:3755",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3755",
                            "name": "AT III deficiency",
                            "description": ""
                        },
                        {
                            "id": "DOID:3755",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3755",
                            "name": "hereditary thrombophilia due to congenital antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary antithrombin deficiency",
                            "description": "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)."
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "AT III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "AT3D",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "antithrombin 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "antithrombin III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "congenital AT-III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "congenital antithrombin III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary thrombophilia due to congenital antithrombin 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "hereditary thrombophilia due to congenital antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "inherited antithrombin deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "thrombophilia 7 due to antithrombin III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "thrombophilia due to antithrombin 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013144",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013144",
                            "name": "thrombophilia due to antithrombin III deficiency",
                            "description": ""
                        },
                        {
                            "id": "MIM:613118",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613118",
                            "name": "Antithrombin III deficiency",
                            "description": "Antithrombin III deficiency"
                        }
                    ]
                }
            ],
            "keywords": [
                "ebi",
                "germline",
                "disease"
            ]
        }
    ],
    "mutagenesis": [
        {
            "start_pos": 414,
            "end_pos": 414,
            "sequence_org": "A",
            "sequence_mut": "K",
            "comment": "Reduces interaction with thrombin by 99%.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P01008",
                    "url": "https://www.uniprot.org/uniprot/P01008"
                },
                {
                    "database": "PubMed",
                    "id": "2013320",
                    "url": "https://glygen.org/publication/PubMed/2013320"
                }
            ]
        },
        {
            "start_pos": 414,
            "end_pos": 414,
            "sequence_org": "A",
            "sequence_mut": "Q",
            "comment": "Reduces interaction with thrombin by 80%.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P01008",
                    "url": "https://www.uniprot.org/uniprot/P01008"
                },
                {
                    "database": "PubMed",
                    "id": "2013320",
                    "url": "https://glygen.org/publication/PubMed/2013320"
                }
            ]
        }
    ],
    "expression_tissue": [
        {
            "tissue": {
                "name": "Adult mammalian kidney",
                "namespace": "UBERON",
                "id": "0000082",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000082"
            },
            "score": "61.11",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        },
        {
            "tissue": {
                "name": "Oral cavity",
                "namespace": "UBERON",
                "id": "0000167",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000167"
            },
            "score": "41.27",
            "present": "ABSENT",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        },
        {
            "tissue": {
                "name": "Stomach",
                "namespace": "UBERON",
                "id": "0000945",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000945"
            },
            "score": "27.66",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        },
        {
            "tissue": {
                "name": "Uterus",
                "namespace": "UBERON",
                "id": "0000995",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000995"
            },
            "score": "49.96",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        },
        {
            "tissue": {
                "name": "Esophagus",
                "namespace": "UBERON",
                "id": "0001043",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001043"
            },
            "score": "62.61",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        },
        {
            "tissue": {
                "name": "Rectum",
                "namespace": "UBERON",
                "id": "0001052",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001052"
            },
            "score": "40.57",
            "present": "ABSENT",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        },
        {
            "tissue": {
                "name": "Colon",
                "namespace": "UBERON",
                "id": "0001155",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001155"
            },
            "score": "47.76",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        },
        {
            "tissue": {
                "name": "Urinary bladder",
                "namespace": "UBERON",
                "id": "0001255",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001255"
            },
            "score": "51.27",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thyroid gland",
                "namespace": "UBERON",
                "id": "0002046",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002046"
            },
            "score": "50.31",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        },
        {
            "tissue": {
                "name": "Lung",
                "namespace": "UBERON",
                "id": "0002048",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002048"
            },
            "score": "47.6",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        },
        {
            "tissue": {
                "name": "Liver",
                "namespace": "UBERON",
                "id": "0002107",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002107"
            },
            "score": "99.69",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        },
        {
            "tissue": {
                "name": "Prostate gland",
                "namespace": "UBERON",
                "id": "0002367",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002367"
            },
            "score": "52.8",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thoracic mammary gland",
                "namespace": "UBERON",
                "id": "0005200",
                "url": "http://purl.obolibrary.org/obo/UBERON_0005200"
            },
            "score": "46.5",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000117601",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000117601"
                }
            ]
        }
    ],
    "expression_disease": [
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Prostate cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10283",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P01008",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01008"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:10283",
                    "recommended_name": {
                        "id": "DOID:10283",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10283",
                        "name": "prostate cancer",
                        "description": "A male reproductive organ cancer that is located_in the prostate."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "NGP - new growth of prostate",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "hereditary prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "malignant tumor of the prostate",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostatic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostatic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "tumor of the prostate",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, type 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "HPC9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, 12",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "EHBP1 familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "familial prostate cancer caused by mutation in EHBP1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, type 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "HPC12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "HPC5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, type 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, susceptibility to, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "HPC3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, type 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, susceptibility to, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "HPC4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, on chromosome 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, 13",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "MSMB familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "familial prostate cancer caused by mutation in MSMB",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, 13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, type 13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "HPC13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, type 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "HPC8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "predisposing for prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, type 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "HPC6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "prostate cancer, hereditary, 10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "HPC10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "prostate cancer, hereditary, 10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "familial prostate carcinoma",
                            "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "hereditary prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "hereditary prostate carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, hereditary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer, hereditary, 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "HPC7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer, hereditary, 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer aggressiveness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, 1",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "RNASEL familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "familial prostate cancer caused by mutation in RNASEL",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, type 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "HPC1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "Prca1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "prostate cancer, hereditary, 11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "HPC11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "prostate cancer, hereditary, 11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "prostate cancer, hereditary, 14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "HPC14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "prostate cancer, hereditary, 14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "prostate cancer, hereditary, 15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "HPC15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "prostate cancer, hereditary, 15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer, hereditary, X-linked 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "HPCX1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer, hereditary, X-linked 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer susceptibility, X-linked",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "prostate cancer, hereditary, X-linked 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "HPCX2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "prostate cancer, hereditary, X-linked 2",
                            "description": ""
                        },
                        {
                            "id": "MIM:611868",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611868",
                            "name": "Prostate cancer, hereditary, 12",
                            "description": "Prostate cancer, hereditary, 12"
                        },
                        {
                            "id": "MIM:611928",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611928",
                            "name": "Prostate cancer, hereditary, 13",
                            "description": "Prostate cancer, hereditary, 13"
                        },
                        {
                            "id": "MIM:176807",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/176807",
                            "name": "Prostate cancer",
                            "description": "Prostate cancer"
                        },
                        {
                            "id": "MIM:601518",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/601518",
                            "name": "Prostate cancer, hereditary, 1",
                            "description": "Prostate cancer, hereditary, 1"
                        },
                        {
                            "id": "MIM:611955",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611955",
                            "name": "Prostate cancer, hereditary, 11",
                            "description": "Prostate cancer, hereditary, 11"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "up",
            "name": "Stomach cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10534",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P01008",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01008"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:10534",
                    "recommended_name": {
                        "id": "DOID:10534",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10534",
                        "name": "stomach cancer",
                        "description": "A gastrointestinal system cancer that is located_in the stomach."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the stomach."
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca lesser curvature - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "cancer of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer risk after h. pylori infection",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant stomach neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "stomach cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca body - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "ca greater curvature of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, intestinal",
                            "description": ""
                        },
                        {
                            "id": "MIM:613659",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613659",
                            "name": "Gastric cancer",
                            "description": "Gastric cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Urinary bladder cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11054",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P01008",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01008"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:11054",
                    "recommended_name": {
                        "id": "DOID:11054",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:11054",
                        "name": "urinary bladder cancer",
                        "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the bladder."
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "tumour of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "bladder cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "cancer of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm, bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm, urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor, urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant tumour",
                            "description": ""
                        },
                        {
                            "id": "MIM:109800",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/109800",
                            "name": "Bladder cancer",
                            "description": "Bladder cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "up",
            "name": "Head and neck cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11934",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P01008",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01008"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:11934",
                    "recommended_name": {
                        "id": "DOID:11934",
                        "resource": "Disease Ontology",
                        "url": "http://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": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck tumours",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head/neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "tumor of head and neck",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "up",
            "name": "Lung cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1324",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P01008",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01008"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1324",
                    "recommended_name": {
                        "id": "DOID:1324",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1324",
                        "name": "lung cancer",
                        "description": "A respiratory system cancer that is located_in the lung."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "LNCR1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "LNCR3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "adenocarcinoma of lung, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "LNCR4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "LNCR5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": "A malignant neoplasm involving the lung."
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "cancer of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "Nonsmall cell lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "alveolar cell carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MIM:211980",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/211980",
                            "name": "Lung cancer",
                            "description": "Lung cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Breast cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1612",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P01008",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01008"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1612",
                    "recommended_name": {
                        "id": "DOID:1612",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1612",
                        "name": "breast cancer",
                        "description": "A thoracic cancer that originates in the mammary gland."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "breast tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant neoplasm of breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant tumor of the breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "primary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, lobular, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of the breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial Male",
                            "description": ""
                        },
                        {
                            "id": "MIM:114480",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114480",
                            "name": "Breast cancer",
                            "description": "Breast cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Thyroid cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1781",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P01008",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01008"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1781",
                    "recommended_name": {
                        "id": "DOID:1781",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1781",
                        "name": "thyroid cancer",
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid gland cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "Thyroid gland neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "malignant neoplasm of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "malignant tumour of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "neoplasm of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid neoplasm",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Kidney cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:263",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P01008",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01008"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:263",
                    "recommended_name": {
                        "id": "DOID:263",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:263",
                        "name": "kidney cancer",
                        "description": "A urinary system cancer that is located_in the kidney."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "malignant neoplasm of kidney except pelvis",
                            "description": ""
                        },
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "malignant tumour of kidney",
                            "description": ""
                        },
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "renal cancer",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Liver cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:3571",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P01008",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01008"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:3571",
                    "recommended_name": {
                        "id": "DOID:3571",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:3571",
                        "name": "liver cancer",
                        "description": "A hepatobiliary system cancer that is located_in the liver."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "Ca liver - primary",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "Resectable malignant neoplasm of Liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "hepatic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "hepatic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant hepato-biliary neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver, primary",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant tumor of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "non-resectable primary hepatic malignant neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "primary liver cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "primary malignant neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "resectable malignant neoplasm of the liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver, not specified as primary or secondary",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "up",
            "name": "Uterine cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:363",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P01008",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01008"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "uterine cancer",
                        "description": "A female reproductive organ cancer that is located_in the uterus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "CA - cancer of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "Tumour of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterus neoplasm",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "down",
            "name": "Esophageal cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:5041",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P01008",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P01008"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:5041",
                    "recommended_name": {
                        "id": "DOID:5041",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:5041",
                        "name": "esophageal cancer",
                        "description": "A gastrointestinal system cancer that is located_in the esophagus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Distal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Proximal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of the middle Third of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal squamous cell carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus tumor",
                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
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                        {
                            "id": "MONDO:0007576",
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                        {
                            "id": "MONDO:0007576",
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                        {
                            "id": "MONDO:0007576",
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                        {
                            "id": "MONDO:0007576",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
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                        {
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                            "id": "MONDO:0007576",
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                        {
                            "id": "MONDO:0007576",
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                            "id": "MONDO:0007576",
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                        {
                            "id": "MONDO:0007576",
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                        {
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                        {
                            "id": "MONDO:0007576",
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                        {
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        {
            "id": "hsa:462",
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            "id": "107300",
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        {
            "id": "613118",
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        {
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        {
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            "id": "R-HSA-140875",
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            "id": "R-HSA-381426",
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            "id": "NP_000479",
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    },
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                    {
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                {
                    "id": "P01008@N128",
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            ]
        },
        {
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                {
                    "id": "29741879",
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                    "url": "https://glygen.org/publication/PubMed/29741879"
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                {
                    "id": "29391424",
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                {
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                }
            ]
        },
        {
            "glytoucan_ac": "G10486CT",
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            "subtype": "",
            "site_category": "reported_with_glycan",
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            "start_pos": 128,
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            "end_aa": "Asn",
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                    "id": "P01008@N128",
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                }
            ]
        },
        {
            "glytoucan_ac": "G11911BT",
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        {
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        {
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            ]
        },
        {
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            "subtype": "",
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            "start_aa": "Asn",
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            "end_aa": "Asn",
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                {
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        },
        {
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            "subtype": "",
            "site_category": "reported_with_glycan",
            "site_seq": "N",
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            "start_aa": "Asn",
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            "end_aa": "Asn",
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                {
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                },
                {
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            ]
        },
        {
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            "subtype": "",
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        {
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        {
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        },
        {
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            ]
        },
        {
            "glytoucan_ac": "G59626AS",
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            ]
        },
        {
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                {
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            ]
        },
        {
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            ]
        },
        {
            "glytoucan_ac": "G75983OB",
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                {
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        {
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            ]
        },
        {
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                {
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                {
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                {
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                {
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                {
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                {
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                {
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                {
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                {
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            ]
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                {
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                {
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                {
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            ]
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        {
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                {
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                {
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            ]
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        {
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            ]
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        {
            "glytoucan_ac": "G37881RL",
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            ]
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    ],
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                {
                    "database": "PubMed",
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            ],
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        {
            "start_pos": 63,
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                {
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                {
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                {
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                {
                    "database": "PubMed",
                    "id": "26091039",
                    "url": "https://glygen.org/publication/PubMed/26091039"
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            ],
            "site_lbl": "Thr63"
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        {
            "start_pos": 68,
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                    "database": "UniProtKB",
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                {
                    "database": "iPTMnet",
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                },
                {
                    "database": "PubMed",
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                    "url": "https://glygen.org/publication/PubMed/18702456"
                },
                {
                    "database": "PubMed",
                    "id": "19824718",
                    "url": "https://glygen.org/publication/PubMed/19824718"
                },
                {
                    "database": "PubMed",
                    "id": "20166139",
                    "url": "https://glygen.org/publication/PubMed/20166139"
                },
                {
                    "database": "PubMed",
                    "id": "26091039",
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            "journal": "Arteriosclerosis, thrombosis, and vascular biology",
            "date": "1999",
            "authors": "Oliver JA, Monroe DM, Roberts HR, Hoffman M",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-140837",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "9888880",
                    "url": "https://glygen.org/publication/PubMed/9888880"
                }
            ]
        },
        {
            "title": "Elevated levels of the IGF-binding protein protease MMP-1 in asthmatic airway smooth muscle.",
            "journal": "American journal of respiratory cell and molecular biology",
            "date": "1999",
            "authors": "Rajah R, Nachajon RV, Collins MH, Hakonarson H, Grunstein MM, Cohen P",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-381426",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "9922210",
                    "url": "https://glygen.org/publication/PubMed/9922210"
                }
            ]
        }
    ],
    "pathway": [
        {
            "id": "hsa:462",
            "name": "",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:462",
            "resource": "KEGG Pathway"
        },
        {
            "id": "R-HSA-140837",
            "name": "Intrinsic Pathway of Fibrin Clot Formation",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140837",
            "resource": "Reactome",
            "description": "Intrinsic Pathway of Fibrin Clot Formation"
        },
        {
            "id": "R-HSA-140875",
            "name": "Common Pathway of Fibrin Clot Formation",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875",
            "resource": "Reactome",
            "description": "Common Pathway of Fibrin Clot Formation"
        },
        {
            "id": "R-HSA-381426",
            "name": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426",
            "resource": "Reactome",
            "description": "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)"
        },
        {
            "id": "R-HSA-8957275",
            "name": "Post-translational protein phosphorylation",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8957275",
            "resource": "Reactome",
            "description": "Post-translational protein phosphorylation"
        }
    ],
    "orthologs": [
        {
            "uniprot_canonical_ac": "A0A480P2S5-1",
            "protein_name": "Antithrombin-III",
            "gene_name": "SERPINC1",
            "tax_id": 9823,
            "organism": "Sus scrofa",
            "sequence": {
                "sequence": "MFSSGIGTVAARKRRECLLSLLIIGLWGCVTCHWSPVEDICTAKPRDIPVNPMCIYRSPEKKATEGEGSEQKIPEATNRRVWELSKANSHFATIFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACDNTLKQLMEVFKFDTISEKTSDQVHFFFAKLNCRLYRKANKSSELVSANRLFGDKSLTFNETYQEISEVVYGAKLQPLDFKENAEQSRGIINQWVSNKTEGRITDVIPPEAINELTVLVLVNTIYFKGRWKSKFSSENTRKELFYKANGESCSVSMMYQESKFRYRRVAEGTQVLELPFKGDDITMVLILPKLEKSLAKVEQELTPEVLQEWLDELADTLLVVHMPRFRIEDSFSVKERLQDMGLEDLFIPEKAKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTTIGIAGRSLNPARVTFKANRPFLVLIREVALNTIIFMGRVANPC",
                "length": 463
            },
            "evidence": [
                {
                    "id": "P01008",
                    "url": "https://omabrowser.org/oma/group/P01008/",
                    "database": "OMA"
                }
            ],
            "common_name": "Pig"
        },
        {
            "uniprot_canonical_ac": "P32261-1",
            "protein_name": "Antithrombin-III",
            "gene_name": "Serpinc1",
            "tax_id": 10090,
            "organism": "Mus musculus",
            "sequence": {
                "sequence": "MYSPGAGSGAAGERKLCLLSLLLIGALGCAICHGNPVDDICIAKPRDIPVNPLCIYRSPGKKATEEDGSEQKVPEATNRRVWELSKANSRFATNFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLKQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKANKSSDLVSANRLFGDKSLTFNESYQDVSEVVYGAKLQPLDFKENPEQSRVTINNWVANKTEGRIKDVIPQGAINELTALVLVNTIYFKGLWKSKFSPENTRKEPFYKVDGQSCPVPMMYQEGKFKYRRVAEGTQVLELPFKGDDITMVLILPKPEKSLAKVEQELTPELLQEWLDELSETMLVVHMPRFRTEDGFSLKEQLQDMGLIDLFSPEKSQLPGIVAGGRDDLYVSDAFHKAFLEVNEEGSEAAASTSVVITGRSLNPNRVTFKANRPFLVLIREVALNTIIFMGRVANPCVN",
                "length": 465
            },
            "evidence": [
                {
                    "id": "45917875",
                    "url": "http://www.informatics.jax.org/homology/45917875",
                    "database": "MGI"
                },
                {
                    "id": "P01008",
                    "url": "https://omabrowser.org/oma/group/P01008/",
                    "database": "OMA"
                }
            ],
            "common_name": "Mouse"
        },
        {
            "uniprot_canonical_ac": "Q5M7T5-1",
            "protein_name": "Antithrombin-III",
            "gene_name": "Serpinc1",
            "tax_id": 10116,
            "organism": "Rattus norvegicus",
            "sequence": {
                "sequence": "MYSPGIGSAVAGERKLCLLSLLLIGALGCAVCHGNPVDDICIAKPRDIPVNPMCIYRSPAKKATEEDVLEQKVPEATNRRVWELSKANSRFATNFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNNTLKQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKANKSSNLVSANRLFGDKSLTFNESYQDVSEIVYGAKLQPLDFKENPEQSRVTINNWVANKTEGRIKDVIPQGAIDELTALVLVNTIYFKGLWKSKFSPENTRKEPFHKVDGQSCLVPMMYQEGKFKYRRVGEGTQVLEMPFKGDDITMVLILPKPEKSLAKVEQELTPELLQEWLDELSEVMLVVHVPRFRIEDSFSLKEQLQDMGLVDLFSPEKSQLPGIIAEGRDDLFVSDAFHKAFLEVNEEGSEAAASTSVVITGRSLNPSRVTFKANRPFLVLIREVALNTIIFMGRVSNPCVN",
                "length": 465
            },
            "evidence": [
                {
                    "id": "45917875",
                    "url": "http://www.informatics.jax.org/homology/45917875",
                    "database": "MGI"
                },
                {
                    "id": "P01008",
                    "url": "https://omabrowser.org/oma/group/P01008/",
                    "database": "OMA"
                }
            ],
            "common_name": "Rat"
        }
    ],
    "go_annotation": {
        "categories": [
            {
                "name": "Molecular Function",
                "total": 4,
                "go_terms": [
                    {
                        "name": "protease binding",
                        "id": "GO:0002020",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "serine-type endopeptidase inhibitor activity",
                        "id": "GO:0004867",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "heparin binding",
                        "id": "GO:0008201",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "identical protein binding",
                        "id": "GO:0042802",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Cellular Component",
                "total": 7,
                "go_terms": [
                    {
                        "name": "extracellular region",
                        "id": "GO:0005576",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "extracellular space",
                        "id": "GO:0005615",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "endoplasmic reticulum lumen",
                        "id": "GO:0005788",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "plasma membrane",
                        "id": "GO:0005886",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "extracellular exosome",
                        "id": "GO:0070062",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "blood microparticle",
                        "id": "GO:0072562",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "collagen-containing extracellular matrix",
                        "id": "GO:0062023",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Biological Process",
                "total": 2,
                "go_terms": [
                    {
                        "name": "blood coagulation",
                        "id": "GO:0007596",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "regulation of blood coagulation",
                        "id": "GO:0030193",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030193",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P01008",
                                "url": "https://www.uniprot.org/uniprot/P01008"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            }
        ]
    },
    "pro_annotation": [
        {
            "name": "antithrombin-III N-glycosylated 1 (human)",
            "definition": "An antithrombin-III (human) that has been N-glycosylated at the residue equivalent to Asn-128 of the amino acid sequence represented by UniProtKB:P01008-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01008-1, Asn-128, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]",
            "evidence": [
                {
                    "id": "PR:000051366",
                    "database": "PRO",
                    "url": "https://proconsortium.org/app/entry/PR:000051366"
                }
            ]
        },
        {
            "name": "antithrombin-III N-glycosylated 2 (human)",
            "definition": "An antithrombin-III (human) that has been N-glycosylated at the residue equivalent to Asn-128 of the amino acid sequence represented by UniProtKB:P01008-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P01008-1, Asn-128, MOD:00160~GNO:G42358LZ. [PRO:DNx, PMID:24279413]",
            "evidence": [
                {
                    "id": "PR:000051367",
                    "database": "PRO",
                    "url": "https://proconsortium.org/app/entry/PR:000051367"
                }
            ]
        },
        {
            "name": "antithrombin-III N-glycosylated 3 (human)",
            "definition": "An antithrombin-III (human) that has been N-glycosylated at the residue equivalent to Asn-187 of the amino acid sequence represented by UniProtKB:P01008-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01008-1, Asn-187, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]",
            "evidence": [
                {
                    "id": "PR:000051368",
                    "database": "PRO",
                    "url": "https://proconsortium.org/app/entry/PR:000051368"
                }
            ]
        },
        {
            "name": "antithrombin-III N-glycosylated 4 (human)",
            "definition": "An antithrombin-III (human) that has been N-glycosylated at the residue equivalent to Asn-187 of the amino acid sequence represented by UniProtKB:P01008-1, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P01008-1, Asn-187, MOD:00160~GNO:G22140GZ. [PRO:DNx, PMID:19838169]",
            "evidence": [
                {
                    "id": "PR:000051369",
                    "database": "PRO",
                    "url": "https://proconsortium.org/app/entry/PR:000051369"
                }
            ]
        },
        {
            "name": "antithrombin-III N-glycosylated 5 (human)",
            "definition": "An antithrombin-III (human) that has been N-glycosylated at the residue equivalent to Asn-187 of the amino acid sequence represented by UniProtKB:P01008-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P01008-1, Asn-187, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:29671580]",
            "evidence": [
                {
                    "id": "PR:000051370",
                    "database": "PRO",
                    "url": "https://proconsortium.org/app/entry/PR:000051370"
                }
            ]
        },
        {
            "name": "antithrombin-III N-glycosylated 6 (human)",
            "definition": "An antithrombin-III (human) that has been N-glycosylated at the residue equivalent to Asn-224 of the amino acid sequence represented by UniProtKB:P01008-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P01008-1, Asn-224, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:24841998, PMID:29671580]",
            "evidence": [
                {
                    "id": "PR:000051371",
                    "database": "PRO",
                    "url": "https://proconsortium.org/app/entry/PR:000051371"
                }
            ]
        },
        {
            "name": "antithrombin-III O-glycosylated 1 (human)",
            "definition": "An antithrombin-III (human) that has been O-glycosylated at the residue equivalent to Thr-418 of the amino acid sequence represented by UniProtKB:P01008-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P01008-1, Thr-418, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]",
            "evidence": [
                {
                    "id": "PR:000051372",
                    "database": "PRO",
                    "url": "https://proconsortium.org/app/entry/PR:000051372"
                }
            ]
        },
        {
            "name": "antithrombin-III O-glycosylated 2 (human)",
            "definition": "An antithrombin-III (human) that has been O-glycosylated at the residue equivalent to Thr-418 of the amino acid sequence represented by UniProtKB:P01008-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P01008-1, Thr-418, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]",
            "evidence": [
                {
                    "id": "PR:000051373",
                    "database": "PRO",
                    "url": "https://proconsortium.org/app/entry/PR:000051373"
                }
            ]
        }
    ],
    "site_annotation": [
        {
            "start_pos": 128,
            "end_pos": 130,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 167,
            "end_pos": 169,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 187,
            "end_pos": 189,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 224,
            "end_pos": 226,
            "annotation": "n_glycosylation_sequon"
        }
    ],
    "ptm_annotation": [
        {
            "annotation": "Phosphorylated by FAM20C in the extracellular medium.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P01008",
                    "url": "https://www.uniprot.org/uniprot/P01008"
                },
                {
                    "database": "PubMed",
                    "id": "26091039",
                    "url": "https://glygen.org/publication/PubMed/26091039"
                }
            ]
        }
    ],
    "interactions": [],
    "reactions": [],
    "reaction_participants": [],
    "reaction_enzymes": [],
    "biomarkers": [
        {
            "assessed_biomarker_entity": "Antithrombin (SERPINC1)",
            "biomarker_id": "A0069",
            "evidence": [
                {
                    "id": "GLY_000625",
                    "database": "GlyGen",
                    "url": "https://data.glygen.org/GLY_000625"
                },
                {
                    "id": "32172226",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/32172226"
                },
                {
                    "id": "32829961",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/32829961"
                },
                {
                    "id": "19227008",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/19227008"
                }
            ],
            "instances": [
                {
                    "best_biomarker_type": "prognostic",
                    "status": "decreased SERPINC1 level",
                    "disease": {
                        "disease_id": "DOID:0080600",
                        "recommended_name": {
                            "id": "DOID:0080600",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:0080600",
                            "name": "COVID-19",
                            "description": "A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080600",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0080600",
                                "name": "2019 Novel Coronavirus (2019-nCoV)",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080600",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0080600",
                                "name": "2019-nCoV infection",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080600",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0080600",
                                "name": "Wuhan coronavirus infection",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080600",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0080600",
                                "name": "Wuhan seafood market pneumonia virus infection",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080600",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0080600",
                                "name": "COVID19",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080600",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:0080600",
                                "name": "SARS-CoV-2 infection",
                                "description": ""
                            }
                        ]
                    },
                    "tissue": {
                        "name": "blood",
                        "namespace": "UBERON",
                        "id": "0000178",
                        "url": "http://purl.obolibrary.org/obo/UBERON_0000178"
                    },
                    "evidence": [
                        {
                            "id": "GLY_000625",
                            "database": "GlyGen",
                            "url": "https://data.glygen.org/GLY_000625"
                        },
                        {
                            "id": "32172226",
                            "database": "PubMed",
                            "url": "https://glygen.org/publication/PubMed/32172226"
                        },
                        {
                            "id": "32829961",
                            "database": "PubMed",
                            "url": "https://glygen.org/publication/PubMed/32829961"
                        }
                    ]
                },
                {
                    "best_biomarker_type": "prognostic",
                    "status": "increased SERPINC1 level",
                    "disease": {
                        "disease_id": "DOID:1319",
                        "recommended_name": {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://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": "http://disease-ontology.org/term/DOID:1319",
                                "name": "BT - Brain tumour",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "adult brain tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
                                "resource": "Disease Ontology",
                                "url": "http://disease-ontology.org/term/DOID:1319",
                                "name": "adult malignant brain neoplasm",
                                "description": ""
                            },
                            {
                                "id": "DOID:1319",
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