{
    "uniprot_canonical_ac": "P07204-1",
    "uniprot_ac": "P07204",
    "uniprot_id": "TRBM_HUMAN",
    "mass": {
        "chemical_mass": 60329.0,
        "monoisotopic_mass": 60329.0
    },
    "refseq": {
        "ac": "NP_000352",
        "name": "thrombomodulin precursor",
        "summary": "The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008].",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000352"
    },
    "gene_names": [
        {
            "name": "THBD",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/P07204",
            "id": "P07204"
        },
        {
            "name": "AHUS6; BDCA-3; BDCA3; CD141; THPH12; THRM; TM",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000352",
            "id": "NP_000352"
        },
        {
            "name": "THBD",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000352",
            "id": "NP_000352"
        },
        {
            "name": "THRM",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/P07204",
            "id": "P07204"
        }
    ],
    "protein_names": [
        {
            "name": "Thrombomodulin",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "P07204"
        },
        {
            "name": "Fetomodulin",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P07204"
        },
        {
            "name": "TM",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P07204"
        },
        {
            "name": "fetomodulin; CD141 antigen",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000352",
            "id": "NP_000352"
        },
        {
            "name": "thrombomodulin precursor",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000352",
            "id": "NP_000352"
        }
    ],
    "function": [
        {
            "annotation": "A missense mutation in lectin domain of thrombomodulin causing functional deficiency.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000352",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000352"
                },
                {
                    "database": "PubMed",
                    "id": "35921923",
                    "url": "https://glygen.org/publication/PubMed/35921923"
                }
            ]
        },
        {
            "annotation": "Novel nucleotide variations in the thrombomodulin (THBD) gene involved in coagulation pathways can increase the risk of recurrent pregnancy loss (RPL).",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000352",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000352"
                },
                {
                    "database": "PubMed",
                    "id": "37979949",
                    "url": "https://glygen.org/publication/PubMed/37979949"
                }
            ]
        },
        {
            "annotation": "On the relevance of thrombomodulin variants in atypical hemolytic uremic syndrome.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000352",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000352"
                },
                {
                    "database": "PubMed",
                    "id": "37567446",
                    "url": "https://glygen.org/publication/PubMed/37567446"
                }
            ]
        },
        {
            "annotation": "The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008].",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000352",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000352"
                }
            ]
        },
        {
            "annotation": "The role of thrombomodulin in modulating ITGB3 expression and its implications for triple-negative breast cancer progression.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000352",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000352"
                },
                {
                    "database": "PubMed",
                    "id": "38081783",
                    "url": "https://glygen.org/publication/PubMed/38081783"
                }
            ]
        },
        {
            "annotation": "Thrombomodulin is a specific endothelial cell receptor that forms a 1:1 stoichiometric complex with thrombin. This complex is responsible for the conversion of protein C to the activated protein C (protein Ca). Once evolved, protein Ca scissions the activated cofactors of the coagulation mechanism, factor Va and factor VIIIa, and thereby reduces the amount of thrombin generated.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P07204",
                    "url": "https://www.uniprot.org/uniprot/P07204#function"
                }
            ]
        },
        {
            "annotation": "Variation in presepsin and thrombomodulin levels for predicting COVID-19 mortality. Publication Status: Online-Only",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_000352",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000352"
                },
                {
                    "database": "PubMed",
                    "id": "38057335",
                    "url": "https://glygen.org/publication/PubMed/38057335"
                }
            ]
        }
    ],
    "disease": [
        {
            "disease_id": "DOID:0111908",
            "recommended_name": {
                "id": "DOID:0111908",
                "resource": "Disease Ontology",
                "url": "http://disease-ontology.org/term/DOID:0111908",
                "name": "thrombophilia due to thrombomodulin defect",
                "description": "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21."
            },
            "synonyms": [
                {
                    "id": "DOID:0111908",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0111908",
                    "name": "THPH12",
                    "description": ""
                },
                {
                    "id": "DOID:0111908",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0111908",
                    "name": "THBD-related bleeding disorder",
                    "description": ""
                },
                {
                    "id": "DOID:0111908",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0111908",
                    "name": "THBD-related coagulopathy",
                    "description": ""
                },
                {
                    "id": "DOID:0111908",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0111908",
                    "name": "thrombomodulin-related bleeding disorder",
                    "description": ""
                },
                {
                    "id": "DOID:0111908",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:0111908",
                    "name": "thrombomodulin-related coagulopathy",
                    "description": ""
                },
                {
                    "id": "MONDO:0013775",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013775",
                    "name": "thrombomodulin-related bleeding disorder",
                    "description": ""
                },
                {
                    "id": "MONDO:0013775",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013775",
                    "name": "THBD-related bleeding disorder",
                    "description": ""
                },
                {
                    "id": "MONDO:0013775",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013775",
                    "name": "THBD-related coagulopathy",
                    "description": ""
                },
                {
                    "id": "MONDO:0013775",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013775",
                    "name": "thrombomodulin-related coagulopathy",
                    "description": ""
                },
                {
                    "id": "MONDO:0013775",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013775",
                    "name": "thrombophilia 12 due to thrombomodulin defect",
                    "description": ""
                },
                {
                    "id": "MONDO:0013775",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013775",
                    "name": "THPH12",
                    "description": ""
                },
                {
                    "id": "MONDO:0013775",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013775",
                    "name": "thrombophilia due to thrombomodulin defect",
                    "description": ""
                },
                {
                    "id": "MIM:614486",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/614486",
                    "name": "Thrombophilia due to thrombomodulin defect",
                    "description": "Thrombophilia due to thrombomodulin defect"
                }
            ],
            "evidence": [
                {
                    "id": "614486",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614486"
                }
            ]
        },
        {
            "disease_id": "MONDO:0013044",
            "recommended_name": {
                "id": "MONDO:0013044",
                "resource": "MONDO",
                "url": "https://monarchinitiative.org/disease/MONDO:0013044",
                "name": "atypical hemolytic-uremic syndrome with thrombomodulin anomaly",
                "description": ""
            },
            "synonyms": [
                {
                    "id": "MONDO:0013044",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013044",
                    "name": "D-HUS with thrombomodulin anomaly",
                    "description": ""
                },
                {
                    "id": "MONDO:0013044",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013044",
                    "name": "aHUS with thrombomodulin anomaly",
                    "description": ""
                },
                {
                    "id": "MONDO:0013044",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013044",
                    "name": "atypical HUS with thrombomodulin anomaly",
                    "description": ""
                },
                {
                    "id": "MONDO:0013044",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013044",
                    "name": "hemolytic uremic syndrome, atypical, susceptibility to, type 6",
                    "description": ""
                },
                {
                    "id": "MONDO:0013044",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013044",
                    "name": "hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly",
                    "description": ""
                },
                {
                    "id": "MONDO:0013044",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013044",
                    "name": "hemolytic-uremic syndrome without diarrhoea with thrombomodulin anomaly",
                    "description": ""
                },
                {
                    "id": "MONDO:0013044",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013044",
                    "name": "AHUS6",
                    "description": ""
                },
                {
                    "id": "MONDO:0013044",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013044",
                    "name": "Ahus, susceptibility to, 6",
                    "description": ""
                },
                {
                    "id": "MONDO:0013044",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013044",
                    "name": "hemolytic uremic syndrome, atypical, susceptibility to, 6",
                    "description": ""
                },
                {
                    "id": "MONDO:0013044",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013044",
                    "name": "susceptibility to atypical hemolytic uremic syndrome 6",
                    "description": ""
                },
                {
                    "id": "MIM:612926",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/612926",
                    "name": "Hemolytic uremic syndrome atypical 6",
                    "description": "Hemolytic uremic syndrome atypical 6"
                }
            ],
            "evidence": [
                {
                    "id": "612926",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612926"
                }
            ]
        }
    ],
    "snv": [
        {
            "evidence": [
                {
                    "id": "rs764063396",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764063396"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 116,
            "end_pos": 116,
            "sequence_org": "N",
            "sequence_mut": "null",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->nullTS); n-glyco-sequon-loss (NNT->NnullT).",
            "chr_id": "20",
            "chr_pos": "23049156TGT",
            "ref_nt": "]",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N116",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs760466938",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760466938"
                },
                {
                    "id": "rs760466938",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760466938"
                },
                {
                    "id": "rs760466938",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs760466938#frequency_tab"
                },
                {
                    "id": "rs760466938",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs760466938"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 115,
            "end_pos": 115,
            "sequence_org": "N",
            "sequence_mut": "D",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->DNT).",
            "chr_id": "20",
            "chr_pos": "23049162",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N115",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1472702645",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1472702645"
                },
                {
                    "id": "rs1472702645",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1472702645"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 115,
            "end_pos": 115,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->SNT).",
            "chr_id": "20",
            "chr_pos": "23049161",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N115",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs773006742",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773006742"
                },
                {
                    "id": "rs773006742",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773006742"
                },
                {
                    "id": "rs773006742",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs773006742#frequency_tab"
                },
                {
                    "id": "rs773006742",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs773006742"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 116,
            "end_pos": 116,
            "sequence_org": "N",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->TTS).",
            "chr_id": "20",
            "chr_pos": "23049158",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N116",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1308254288",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1308254288"
                },
                {
                    "id": "rs1308254288",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1308254288"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 117,
            "end_pos": 117,
            "sequence_org": "T",
            "sequence_mut": "I",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNT->NNI).",
            "chr_id": "20",
            "chr_pos": "23049155",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T117",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1393752432",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393752432"
                },
                {
                    "id": "rs1393752432",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1393752432#frequency_tab"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 130,
            "end_pos": 130,
            "sequence_org": "A",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGA->NGS).",
            "chr_id": "20",
            "chr_pos": "23049117",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "A130",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P07204",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07204"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 244,
            "end_pos": 244,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "D",
            "sequence_mut": "N",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DCS->NCS).",
            "chr_id": "20",
            "chr_pos": "23048775",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "D244",
            "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": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs936229868",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs936229868"
                },
                {
                    "id": "rs936229868",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs936229868#frequency_tab"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 251,
            "end_pos": 251,
            "sequence_org": "G",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGG->NGS).",
            "chr_id": "20",
            "chr_pos": "23048754",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "G251",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
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                        {
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                        "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",
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                            "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",
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                            "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"
                        }
                    ]
                },
                {
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                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:2531",
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                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
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                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
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                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
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                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
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                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
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                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
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                        },
                        {
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                            "resource": "Disease Ontology",
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                        },
                        {
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                        {
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                            "resource": "Disease Ontology",
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                    ]
                }
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        },
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            "end_pos": 49,
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                "germline"
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        },
        {
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            "start_pos": 49,
            "end_pos": 49,
            "sequence_org": "S",
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                "germline"
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        },
        {
            "evidence": [
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                },
                {
                    "id": "rs148056985",
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                },
                {
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            ],
            "glycoeffect": [
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                "o-glyco-site-loss"
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            "start_pos": 504,
            "end_pos": 504,
            "sequence_org": "T",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLT->NLT).",
            "chr_id": "20",
            "chr_pos": "23047994",
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            "minor_allelic_frequency": "",
            "site_lbl": "T504",
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                "germline"
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        }
    ],
    "mutagenesis": [
        {
            "start_pos": 490,
            "end_pos": 490,
            "sequence_org": "S",
            "sequence_mut": "E",
            "comment": "Improved overall glycosaminoglycan attachment, likely due to improved xylosyltransferase acceptor consensus sequence around Ser-492.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P07204",
                    "url": "https://www.uniprot.org/uniprot/P07204"
                },
                {
                    "database": "PubMed",
                    "id": "8216207",
                    "url": "https://glygen.org/publication/PubMed/8216207"
                }
            ]
        },
        {
            "start_pos": 492,
            "end_pos": 492,
            "sequence_org": "S",
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                    "database": "UniProtKB",
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                {
                    "database": "PubMed",
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                    "url": "https://glygen.org/publication/PubMed/8216207"
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            ]
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    ],
    "expression_tissue": [
        {
            "tissue": {
                "name": "Adult mammalian kidney",
                "namespace": "UBERON",
                "id": "0000082",
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            "score": "76.77",
            "present": "MEDIUM",
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                {
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            ]
        },
        {
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                "name": "Oral cavity",
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            "score": "82.52",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
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            ]
        },
        {
            "tissue": {
                "name": "Stomach",
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            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
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        },
        {
            "tissue": {
                "name": "Esophagus",
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            "score": "90",
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            "evidence": [
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                    "database": "Bgee",
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        },
        {
            "tissue": {
                "name": "Rectum",
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            "score": "78.91",
            "present": "MEDIUM",
            "evidence": [
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                    "database": "Bgee",
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            ]
        },
        {
            "tissue": {
                "name": "Colon",
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                "id": "0001155",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001155"
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            "score": "83.81",
            "present": "HIGH",
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                    "database": "Bgee",
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        {
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        },
        {
            "tissue": {
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        },
        {
            "tissue": {
                "name": "Lung",
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        {
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    "expression_disease": [
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                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
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                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
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                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate neoplasm",
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                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
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                            "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",
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                            "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": "Yes",
            "trend": "down",
            "name": "Stomach cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10534",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P07204",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07204"
                }
            ],
            "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": "No",
            "trend": "down",
            "name": "Urinary bladder cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11054",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P07204",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07204"
                }
            ],
            "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": "down",
            "name": "Head and neck cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11934",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P07204",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07204"
                }
            ],
            "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": "Yes",
            "trend": "down",
            "name": "Lung cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1324",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P07204",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07204"
                }
            ],
            "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": "down",
            "name": "Breast cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1612",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P07204",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07204"
                }
            ],
            "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": "down",
            "name": "Thyroid cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1781",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P07204",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07204"
                }
            ],
            "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": "No",
            "trend": "down",
            "name": "Kidney cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:263",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P07204",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07204"
                }
            ],
            "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": "P07204",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07204"
                }
            ],
            "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": "Yes",
            "trend": "down",
            "name": "Uterine cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:363",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P07204",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07204"
                }
            ],
            "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": "up",
            "name": "Esophageal cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:5041",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P07204",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07204"
                }
            ],
            "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",
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "large intestine cancer",
                            "description": ""
                        },
                        {
                            "id": "MIM:114500",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114500",
                            "name": "Colorectal cancer",
                            "description": "Colorectal cancer"
                        }
                    ]
                }
            ]
        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P07204",
                    "url": "https://www.uniprot.org/uniprot/P07204"
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            ],
            "common_name": "Human"
        }
    ],
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            "name": "THBD",
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                "start_pos": 9032,
                "end_pos": 5001,
                "strand": "-",
                "evidence": [
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                        "database": "Ensembl Gene",
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                        "url": "https://www.ensembl.org/id/LRG_168"
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                ]
            }
        }
    ],
    "crossref": [
        {
            "id": "ENSG00000178726",
            "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178726",
            "database": "Bgee",
            "categories": [
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        },
        {
            "id": "P07204",
            "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P07204",
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            "categories": [
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        },
        {
            "id": "cd00054",
            "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054",
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            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "cd03600",
            "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03600",
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            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "cd19941",
            "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd19941",
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            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "THBD",
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        {
            "id": "7056",
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            "categories": [
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        },
        {
            "id": "591",
            "url": "https://glyconnect.expasy.org/browser/proteins/591",
            "database": "GlyConnect",
            "categories": [
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                "Glycan"
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        },
        {
            "id": "11784",
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11784",
            "database": "HGNC",
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        },
        {
            "id": "P07204",
            "url": "https://www.ebi.ac.uk/intact/interactors/id:P07204*",
            "database": "IntAct",
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        },
        {
            "id": "IPR000152",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR000152",
            "database": "InterPro",
            "categories": [
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            ]
        },
        {
            "id": "IPR000742",
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            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR001304",
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            "categories": [
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            ]
        },
        {
            "id": "IPR001881",
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        },
        {
            "id": "IPR009030",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR009030",
            "database": "InterPro",
            "categories": [
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            ]
        },
        {
            "id": "IPR015149",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR015149",
            "database": "InterPro",
            "categories": [
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        {
            "id": "IPR016186",
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            "database": "InterPro",
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        },
        {
            "id": "IPR016187",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR016187",
            "database": "InterPro",
            "categories": [
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        },
        {
            "id": "IPR018097",
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            "categories": [
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        },
        {
            "id": "IPR026823",
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        },
        {
            "id": "hsa:7056",
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        },
        {
            "id": "188040",
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            "database": "MIM",
            "categories": [
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            ]
        },
        {
            "id": "612926",
            "url": "http://www.omim.org/entry/612926",
            "database": "MIM",
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        },
        {
            "id": "614486",
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            "database": "MIM",
            "categories": [
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            ]
        },
        {
            "id": "NX_P07204",
            "url": "https://www.nextprot.org/entry/NX_P07204",
            "database": "neXtProt",
            "categories": [
                "Protein",
                "Organism-specific"
            ]
        },
        {
            "id": "CMCETGY",
            "url": "https://omabrowser.org/oma/group/CMCETGY/",
            "database": "OMA",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "19806at2759",
            "url": "http://www.orthodb.org/?query=19806at2759",
            "database": "OrthoDB",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PTHR24036",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24036",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PTHR24036:SF5",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24036:SF5",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "1ADX",
            "url": "https://www.rcsb.org/structure/1ADX",
            "database": "PDB",
            "categories": [
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        },
        {
            "id": "1DQB",
            "url": "https://www.rcsb.org/structure/1DQB",
            "database": "PDB",
            "categories": [
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            ]
        },
        {
            "id": "1DX5",
            "url": "https://www.rcsb.org/structure/1DX5",
            "database": "PDB",
            "categories": [
                "3D Structure"
            ]
        },
        {
            "id": "1EGT",
            "url": "https://www.rcsb.org/structure/1EGT",
            "database": "PDB",
            "categories": [
                "3D Structure"
            ]
        },
        {
            "id": "1FGD",
            "url": "https://www.rcsb.org/structure/1FGD",
            "database": "PDB",
            "categories": [
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        },
        {
            "id": "1FGE",
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            "database": "PDB",
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        },
        {
            "id": "1HLT",
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            "categories": [
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        },
        {
            "id": "1TMR",
            "url": "https://www.rcsb.org/structure/1TMR",
            "database": "PDB",
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        },
        {
            "id": "1ZAQ",
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            "database": "PDB",
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        },
        {
            "id": "2ADX",
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        {
            "id": "3GIS",
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            "categories": [
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        },
        {
            "id": "5TO3",
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        },
        {
            "id": "7T4R",
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            "categories": [
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        },
        {
            "id": "PF00059",
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            "categories": [
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        },
        {
            "id": "PF07645",
            "url": "http://pfam.xfam.org/family/PF07645",
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            ]
        },
        {
            "id": "PF09064",
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                "Protein Classification"
            ]
        },
        {
            "id": "PF12662",
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                "Protein Classification"
            ]
        },
        {
            "id": "PF14670",
            "url": "http://pfam.xfam.org/family/PF14670",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "P07204",
            "url": "https://pharos.nih.gov/targets/P07204",
            "database": "PHAROS",
            "categories": [
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            ]
        },
        {
            "id": "PR_P07204",
            "url": "http://purl.obolibrary.org/obo/PR_P07204",
            "database": "PRO",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "R-HSA-140875",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-140875",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "R-HSA-202733",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733",
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            ]
        },
        {
            "id": "NP_000352",
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            "database": "RefSeq",
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            ]
        },
        {
            "id": "P07204",
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            ]
        },
        {
            "id": "P07204-1",
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            "database": "UniProtKB",
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                "Protein"
            ]
        }
    ],
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        "sequence": "MLGVLVLGALALAGLGFPAPAEPQPGGSQCVEHDCFALYPGPATFLNASQICDGLRGHLMTVRSSVAADVISLLLNGDGGVGRRRLWIGLQLPPGCGDPKRLGPLRGFQWVTGDNNTSYSRWARLDLNGAPLCGPLCVAVSAAEATVPSEPIWEEQQCEVKADGFLCEFHFPATCRPLAVEPGAAAAAVSITYGTPFAARGADFQALPVGSSAAVAPLGLQLMCTAPPGAVQGHWAREAPGAWDCSVENGGCEHACNAIPGAPRCQCPAGAALQADGRSCTASATQSCNDLCEHFCVPNPDQPGSYSCMCETGYRLAADQHRCEDVDDCILEPSPCPQRCVNTQGGFECHCYPNYDLVDGECVEPVDPCFRANCEYQCQPLNQTSYLCVCAEGFAPIPHEPHRCQMFCNQTACPADCDPNTQASCECPEGYILDDGFICTDIDECENGGFCSGVCHNLPGTFECICGPDSALARHIGTDCDSGKVDGGDSGSGEPPPSPTPGSTLTPPAVGLVHSGLLIGISIASLCLVVALLALLCHLRKKQGAARAKMEYKCAAPSKEVVLQHVRTERTPQRL",
        "length": 575,
        "header": "sp|P07204-1|TRBM_HUMAN Isoform 1 of Thrombomodulin  OS=Homo sapiens OX=9606 GN=THBD PE=1 SV=2 CANONICAL=P07204-1"
    },
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            "isoform_ac": "P07204-1",
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                "header": "sp|P07204-1|TRBM_HUMAN Isoform 1 of Thrombomodulin  OS=Homo sapiens OX=9606 GN=THBD PE=1 SV=2 CANONICAL=P07204-1"
            },
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                        "url": "https://www.ensembl.org/id/ENST00000377103.3"
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                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000366307.2",
                        "url": "https://www.ensembl.org/id/ENSP00000366307.2"
                    }
                ]
            }
        }
    ],
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            "subtype": "",
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                    "id": "P07204",
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                },
                {
                    "id": "23090970",
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                    "url": "https://glygen.org/publication/PubMed/23090970"
                },
                {
                    "id": "GLY_000143",
                    "database": "GlyGen",
                    "url": "https://data.glygen.org/GLY_000143"
                },
                {
                    "id": "24190977",
                    "database": "PubMed",
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                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 116,
            "start_aa": "Asn",
            "end_pos": 116,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn116",
            "evidence": [
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                    "id": "P07204",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/P07204#ptm_processing"
                },
                {
                    "id": "23090970",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/23090970"
                },
                {
                    "id": "GLY_000143",
                    "database": "GlyGen",
                    "url": "https://data.glygen.org/GLY_000143"
                },
                {
                    "id": "24190977",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/24190977"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "O-linked",
            "subtype": "",
            "site_category": "automatic_literature_mining",
            "site_seq": "S",
            "relation": "attached",
            "comment": "",
            "start_pos": 287,
            "start_aa": "Ser",
            "end_pos": 287,
            "end_aa": "Ser",
            "residue": "Ser",
            "site_lbl": "Ser287",
            "evidence": [
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                    "id": "12458951",
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                },
                {
                    "id": "12458951",
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                    "url": "https://glygen.org/publication/PubMed/12458951"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 382,
            "start_aa": "Asn",
            "end_pos": 382,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn382",
            "evidence": [
                {
                    "id": "P07204",
                    "database": "UniProtKB",
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                },
                {
                    "id": "1DQB",
                    "database": "RCSB PDB",
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                },
                {
                    "id": "1314561",
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                },
                {
                    "id": "1314561",
                    "database": "PubMed",
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                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 409,
            "start_aa": "Asn",
            "end_pos": 409,
            "end_aa": "Asn",
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            "evidence": [
                {
                    "id": "P07204",
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                    "url": "https://www.uniprot.org/uniprot/P07204#ptm_processing"
                },
                {
                    "id": "1DQB",
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                },
                {
                    "id": "1314561",
                    "database": "Automatic Literature Mining",
                    "url": "https://research.bioinformatics.udel.edu/glyco/pmid/1314561"
                },
                {
                    "id": "1314561",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/1314561"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "predicted",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 47,
            "start_aa": "Asn",
            "end_pos": 47,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn47",
            "evidence": [
                {
                    "id": "P07204",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/P07204#ptm_processing"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "O-linked",
            "subtype": "",
            "site_category": "reported",
            "site_seq": "S",
            "relation": "attached",
            "comment": "O-linked (Xyl...) (chondroitin sulfate) serine",
            "start_pos": 490,
            "start_aa": "Ser",
            "end_pos": 490,
            "end_aa": "Ser",
            "residue": "Ser",
            "site_lbl": "Ser490",
            "evidence": [
                {
                    "id": "P07204",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/P07204#ptm_processing"
                },
                {
                    "id": "8216207",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/8216207"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "O-linked",
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            "title": "An endothelial receptor for oxidized low-density lipoprotein.",
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