{
    "uniprot_canonical_ac": "P11465-1",
    "uniprot_ac": "P11465",
    "uniprot_id": "PSG2_HUMAN",
    "mass": {
        "chemical_mass": 37216.0,
        "monoisotopic_mass": 37216.0
    },
    "refseq": {
        "ac": "NP_112536",
        "name": "pregnancy-specific beta-1-glycoprotein 2 precursor",
        "summary": "The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009].",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536"
    },
    "gene_names": [
        {
            "name": "PSG2",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/P11465",
            "id": "P11465"
        },
        {
            "name": "CEA; PSBG2; PSG1",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536",
            "id": "NP_112536"
        },
        {
            "name": "PSBG2",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/P11465",
            "id": "P11465"
        },
        {
            "name": "PSG2",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536",
            "id": "NP_112536"
        }
    ],
    "protein_names": [
        {
            "name": "Pregnancy-specific beta-1-glycoprotein 2",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "P11465"
        },
        {
            "name": "PS-beta-E",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P11465"
        },
        {
            "name": "PS-beta-G-2",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P11465"
        },
        {
            "name": "PSBG-2",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P11465"
        },
        {
            "name": "Pregnancy-specific beta-1 glycoprotein E",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P11465"
        },
        {
            "name": "Pregnancy-specific glycoprotein 2",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P11465"
        },
        {
            "name": "pregnancy-specific beta-1-glycoprotein 2 precursor",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536",
            "id": "NP_112536"
        },
        {
            "name": "pregnancy-specific beta-1-glycoprotein 7; carcinoembryonic antigen SG8; PSBG-2; PS-beta-E; PS-beta-G-2; pregnancy-specific glycoprotein 2; pregnancy-specific beta-1 glycoprotein E",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536",
            "id": "NP_112536"
        }
    ],
    "function": [
        {
            "annotation": "Integrating the dual-signal amplification strategy, a novel 3D origami electrochemical immunodevice for simultaneous detecting carcinoembryonic antigen (CEA) and cancer antigen 125 (CA125)",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_112536",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536"
                },
                {
                    "database": "PubMed",
                    "id": "25048447",
                    "url": "https://glygen.org/publication/PubMed/25048447"
                }
            ]
        },
        {
            "annotation": "The authors evaluated the prognostic significance of the CEA and CA-19.9 serum tumor markers in advanced (unresectable) pancreatic cancer Erratum:[J Chemother. 2010 Feb;22(1):72. Kopteridis, P [corrected to Kopterides, P]]",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_112536",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536"
                },
                {
                    "database": "PubMed",
                    "id": "20071292",
                    "url": "https://glygen.org/publication/PubMed/20071292"
                }
            ]
        },
        {
            "annotation": "The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009].",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_112536",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536"
                }
            ]
        },
        {
            "annotation": "This genetic cancer vaccineis highly immunogenic and can break tolerance to CEA tumor antigen in CEA transgenic mice.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_112536",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536"
                },
                {
                    "database": "PubMed",
                    "id": "15906358",
                    "url": "https://glygen.org/publication/PubMed/15906358"
                }
            ]
        }
    ],
    "disease": [],
    "snv": [
        {
            "evidence": [
                {
                    "id": "rs1163197420",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1163197420"
                },
                {
                    "id": "rs1163197420",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1163197420"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 106,
            "end_pos": 106,
            "sequence_org": "S",
            "sequence_mut": "F",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAS->NAF).",
            "chr_id": "19",
            "chr_pos": "43080994",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S106",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs770176413",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770176413"
                },
                {
                    "id": "rs770176413",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770176413"
                },
                {
                    "id": "rs770176413",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs770176413#frequency_tab"
                },
                {
                    "id": "rs770176413",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs770176413"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 129,
            "end_pos": 129,
            "sequence_org": "D",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGT->NGT).",
            "chr_id": "19",
            "chr_pos": "43080926",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "D129",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs141884048",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141884048"
                },
                {
                    "id": "rs141884048",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs141884048"
                },
                {
                    "id": "rs141884048",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs141884048"
                },
                {
                    "id": "rs141884048",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs141884048#frequency_tab"
                },
                {
                    "id": "rs141884048",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs141884048"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 137,
            "end_pos": 137,
            "sequence_org": "Y",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YFT->NFT).",
            "chr_id": "19",
            "chr_pos": "43080902",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "0.01178",
            "site_lbl": "Y137",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P11465",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11465"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 166,
            "end_pos": 166,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "I",
            "sequence_mut": "N",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (ILT->NLT).",
            "chr_id": "19",
            "chr_pos": "43075566",
            "ref_nt": "A",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "I166",
            "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"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs779897183",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779897183"
                },
                {
                    "id": "rs779897183",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs779897183"
                },
                {
                    "id": "rs779897183",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs779897183#frequency_tab"
                },
                {
                    "id": "rs779897183",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs779897183"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 175,
            "end_pos": 175,
            "sequence_org": "D",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).",
            "chr_id": "19",
            "chr_pos": "43075540",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "D175",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1384730901",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1384730901"
                },
                {
                    "id": "rs1384730901",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1384730901"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 199,
            "end_pos": 199,
            "sequence_org": "N",
            "sequence_mut": "K",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->KRT).",
            "chr_id": "19",
            "chr_pos": "43075466",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N199",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs781204043",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781204043"
                },
                {
                    "id": "rs781204043",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs781204043"
                },
                {
                    "id": "rs781204043",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs781204043"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 209,
            "end_pos": 209,
            "sequence_org": "K",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KYT->NYT).",
            "chr_id": "19",
            "chr_pos": "43075436",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "K209",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P11465",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11465"
                }
            ],
            "glycoeffect": [],
            "start_pos": 20,
            "end_pos": 20,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "V",
            "sequence_mut": "L",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "19",
            "chr_pos": "43082512",
            "ref_nt": "C",
            "alt_nt": "G",
            "minor_allelic_frequency": "",
            "site_lbl": "V20",
            "disease": [
                {
                    "disease_id": "DOID:2531",
                    "recommended_name": {
                        "id": "DOID:2531",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:2531",
                        "name": "hematologic cancer",
                        "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "Hematologic malignancy",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "Hematologic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "Hematological tumors",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "blood cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "hematopoietic and lymphoid system tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "hematopoietic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "hematopoietic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "hematopoietic tumors",
                            "description": ""
                        },
                        {
                            "id": "DOID:2531",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:2531",
                            "name": "malignant hematopoietic neoplasm",
                            "description": ""
                        }
                    ]
                },
                {
                    "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"
                        }
                    ]
                },
                {
                    "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": "rs371852085",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371852085"
                },
                {
                    "id": "rs371852085",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371852085"
                },
                {
                    "id": "rs371852085",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs371852085#frequency_tab"
                },
                {
                    "id": "rs371852085",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs371852085"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 251,
            "end_pos": 251,
            "sequence_org": "Y",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YRS->NRS).",
            "chr_id": "19",
            "chr_pos": "43071913",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "Y251",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P11465",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11465"
                }
            ],
            "glycoeffect": [],
            "start_pos": 263,
            "end_pos": 263,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "A",
            "sequence_mut": "V",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).",
            "chr_id": "19",
            "chr_pos": "43071876",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "A263",
            "disease": [
                {
                    "disease_id": "DOID:1115",
                    "recommended_name": {
                        "id": "DOID:1115",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1115",
                        "name": "sarcoma",
                        "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1115",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1115",
                            "name": "connective and soft tissue neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1115",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1115",
                            "name": "tumor of soft tissue and skeleton",
                            "description": ""
                        }
                    ]
                },
                {
                    "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": ""
                        }
                    ]
                },
                {
                    "disease_id": "DOID:5041",
                    "recommended_name": {
                        "id": "DOID:5041",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:5041",
                        "name": "esophageal cancer",
                        "description": "A gastrointestinal system cancer that is located_in the esophagus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Distal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Proximal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of the middle Third of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal squamous cell carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant oesophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant oesophagus tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "oesophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca lower third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca middle third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of distal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of lower third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of middle third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of proximal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of upper third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of the middle third of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of abdominal oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of distal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of proximal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of the middle third of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Aerodigestive tract cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Escc, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal squamous cell carcinoma, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "gastric cardia adenocarcinoma, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MIM:133239",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/133239",
                            "name": "Esophageal cancer",
                            "description": "Esophageal cancer"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:9256",
                    "recommended_name": {
                        "id": "DOID:9256",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:9256",
                        "name": "colorectal cancer",
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, advanced, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer with chromosomal instability, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectum cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectum neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "CRC",
                            "description": ""
                        },
                        {
                            "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"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs200319734",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200319734"
                },
                {
                    "id": "rs200319734",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs200319734"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 266,
            "end_pos": 266,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSN->NSS).",
            "chr_id": "19",
            "chr_pos": "43071867",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N266",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P11465",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11465"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 278,
            "end_pos": 278,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "K",
            "sequence_mut": "T",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NGK->NGT).",
            "chr_id": "19",
            "chr_pos": "43071831",
            "ref_nt": "T",
            "alt_nt": "G",
            "minor_allelic_frequency": "",
            "site_lbl": "K278",
            "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": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs201084803",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201084803"
                },
                {
                    "id": "rs201084803",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs201084803#frequency_tab"
                },
                {
                    "id": "rs201084803",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs201084803"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 287,
            "end_pos": 287,
            "sequence_org": "F",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLF->NLS).",
            "chr_id": "19",
            "chr_pos": "43071804",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "F287",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1555766319",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555766319"
                },
                {
                    "id": "rs1555766319",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs1555766319"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 307,
            "end_pos": 307,
            "sequence_org": "A",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).",
            "chr_id": "19",
            "chr_pos": "43071745",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "A307",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs372430528",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372430528"
                },
                {
                    "id": "rs372430528",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372430528"
                },
                {
                    "id": "rs372430528",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs372430528#frequency_tab"
                },
                {
                    "id": "rs372430528",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs372430528"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 312,
            "end_pos": 312,
            "sequence_org": "S",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SST->NST).",
            "chr_id": "19",
            "chr_pos": "43071729",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S312",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P11465",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11465"
                },
                {
                    "id": "rs1185717951",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185717951"
                },
                {
                    "id": "rs1185717951",
                    "database": "NCI-TCGA",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185717951"
                },
                {
                    "id": "rs1185717951",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1185717951"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 31,
            "end_pos": 31,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "P",
            "sequence_mut": "S",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NLP->NLS).",
            "chr_id": "19",
            "chr_pos": "43081220",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "P31",
            "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"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease",
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs772434370",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772434370"
                },
                {
                    "id": "rs772434370",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772434370"
                },
                {
                    "id": "rs772434370",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs772434370"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 334,
            "end_pos": 334,
            "sequence_org": "P",
            "sequence_mut": "L",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPT->NLT).",
            "chr_id": "19",
            "chr_pos": "43066564",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "P334",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P11465",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11465"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 59,
            "end_pos": 59,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "P",
            "sequence_mut": "S",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NLP->NLS).",
            "chr_id": "19",
            "chr_pos": "43081136",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "P59",
            "disease": [
                {
                    "disease_id": "DOID:4159",
                    "recommended_name": {
                        "id": "DOID:4159",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:4159",
                        "name": "skin cancer",
                        "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "CA - skin cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "malignant neoplasm of skin",
                            "description": ""
                        },
                        {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:4159",
                            "name": "melanoma and Non-melanoma skin cancer",
                            "description": ""
                        }
                    ]
                },
                {
                    "disease_id": "DOID:9256",
                    "recommended_name": {
                        "id": "DOID:9256",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:9256",
                        "name": "colorectal cancer",
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, advanced, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer with chromosomal instability, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectum cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectum neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "CRC",
                            "description": ""
                        },
                        {
                            "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"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1467048842",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1467048842"
                },
                {
                    "id": "rs1467048842",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1467048842"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 59,
            "end_pos": 59,
            "sequence_org": "P",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLP->NLT).",
            "chr_id": "19",
            "chr_pos": "43081136",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "P59",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1474345795",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1474345795"
                },
                {
                    "id": "rs1474345795",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1474345795#frequency_tab"
                },
                {
                    "id": "rs1474345795",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1474345795"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 63,
            "end_pos": 63,
            "sequence_org": "T",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLN).",
            "chr_id": "19",
            "chr_pos": "43081123",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T63",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs371888689",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371888689"
                },
                {
                    "id": "rs371888689",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371888689"
                },
                {
                    "id": "rs371888689",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs371888689#frequency_tab"
                },
                {
                    "id": "rs371888689",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs371888689"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 63,
            "end_pos": 63,
            "sequence_org": "T",
            "sequence_mut": "P",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLP).",
            "chr_id": "19",
            "chr_pos": "43081124",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T63",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1404321915",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404321915"
                },
                {
                    "id": "rs1404321915",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1404321915#frequency_tab"
                },
                {
                    "id": "rs1404321915",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1404321915"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 79,
            "end_pos": 79,
            "sequence_org": "I",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ITS->NTS).",
            "chr_id": "19",
            "chr_pos": "43081075",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "I79",
            "keywords": [
                "ebi",
                "germline"
            ]
        }
    ],
    "mutagenesis": [],
    "expression_tissue": [
        {
            "tissue": {
                "name": "Adult mammalian kidney",
                "namespace": "UBERON",
                "id": "0000082",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000082"
            },
            "score": "43.24",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        },
        {
            "tissue": {
                "name": "Oral cavity",
                "namespace": "UBERON",
                "id": "0000167",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000167"
            },
            "score": "41.27",
            "present": "ABSENT",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        },
        {
            "tissue": {
                "name": "Stomach",
                "namespace": "UBERON",
                "id": "0000945",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000945"
            },
            "score": "27.66",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        },
        {
            "tissue": {
                "name": "Uterus",
                "namespace": "UBERON",
                "id": "0000995",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000995"
            },
            "score": "49.96",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        },
        {
            "tissue": {
                "name": "Esophagus",
                "namespace": "UBERON",
                "id": "0001043",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001043"
            },
            "score": "17.43",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        },
        {
            "tissue": {
                "name": "Rectum",
                "namespace": "UBERON",
                "id": "0001052",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001052"
            },
            "score": "40.43",
            "present": "ABSENT",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        },
        {
            "tissue": {
                "name": "Colon",
                "namespace": "UBERON",
                "id": "0001155",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001155"
            },
            "score": "47.76",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        },
        {
            "tissue": {
                "name": "Urinary bladder",
                "namespace": "UBERON",
                "id": "0001255",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001255"
            },
            "score": "31.07",
            "present": "ABSENT",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thyroid gland",
                "namespace": "UBERON",
                "id": "0002046",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002046"
            },
            "score": "33.47",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        },
        {
            "tissue": {
                "name": "Lung",
                "namespace": "UBERON",
                "id": "0002048",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002048"
            },
            "score": "47.6",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        },
        {
            "tissue": {
                "name": "Liver",
                "namespace": "UBERON",
                "id": "0002107",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002107"
            },
            "score": "35.89",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        },
        {
            "tissue": {
                "name": "Prostate gland",
                "namespace": "UBERON",
                "id": "0002367",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002367"
            },
            "score": "26.1",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thoracic mammary gland",
                "namespace": "UBERON",
                "id": "0005200",
                "url": "http://purl.obolibrary.org/obo/UBERON_0005200"
            },
            "score": "42.58",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000242221",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221"
                }
            ]
        }
    ],
    "expression_disease": [
        {
            "significant": "No",
            "trend": "up",
            "name": "Stomach cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10534",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P11465",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11465"
                }
            ],
            "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": "up",
            "name": "Urinary bladder cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11054",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P11465",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11465"
                }
            ],
            "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": "Yes",
            "trend": "up",
            "name": "Head and neck cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11934",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P11465",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11465"
                }
            ],
            "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": "up",
            "name": "Lung cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1324",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P11465",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11465"
                }
            ],
            "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": "No",
            "trend": "down",
            "name": "Breast cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1612",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P11465",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11465"
                }
            ],
            "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": "No",
            "trend": "down",
            "name": "Thyroid cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1781",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P11465",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11465"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1781",
                    "recommended_name": {
                        "id": "DOID:1781",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1781",
                        "name": "thyroid cancer",
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid gland cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "Thyroid gland neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "malignant neoplasm of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "malignant tumour of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "neoplasm of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid neoplasm",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Kidney cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:263",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P11465",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11465"
                }
            ],
            "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": "up",
            "name": "Uterine cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:363",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P11465",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11465"
                }
            ],
            "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": "P11465",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11465"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:5041",
                    "recommended_name": {
                        "id": "DOID:5041",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:5041",
                        "name": "esophageal cancer",
                        "description": "A gastrointestinal system cancer that is located_in the esophagus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Distal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Proximal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of the middle Third of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal squamous cell carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant oesophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant oesophagus tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "oesophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca lower third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca middle third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of distal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of lower third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of middle third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of proximal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of upper third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of the middle third of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of abdominal oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of distal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of proximal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of the middle third of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Aerodigestive tract cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Escc, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal squamous cell carcinoma, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "gastric cardia adenocarcinoma, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MIM:133239",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/133239",
                            "name": "Esophageal cancer",
                            "description": "Esophageal cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "up",
            "name": "Colorectal cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:9256",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P11465",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11465"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:9256",
                    "recommended_name": {
                        "id": "DOID:9256",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:9256",
                        "name": "colorectal cancer",
                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "cancer of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, advanced, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colon cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer with chromosomal instability, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "colorectum cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant colorectum neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large bowel tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant large intestine tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of colorectum",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant neoplasm of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumor of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large bowel",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "malignant tumour of the large intestine",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                            "name": "CRC",
                            "description": ""
                        },
                        {
                            "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": "P11465",
                    "url": "https://www.uniprot.org/uniprot/P11465"
                }
            ],
            "common_name": "Human"
        }
    ],
    "gene": [
        {
            "name": "PSG2",
            "url": "https://www.uniprot.org/uniprot/P11465",
            "locus": {
                "chromosome": "19",
                "start_pos": 43064209,
                "end_pos": 43083045,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Gene",
                        "id": "ENSG00000242221",
                        "url": "https://www.ensembl.org/id/ENSG00000242221"
                    }
                ]
            }
        }
    ],
    "crossref": [
        {
            "id": "ENSG00000242221",
            "url": "https://bgee.org/?page=gene&gene_id=ENSG00000242221",
            "database": "Bgee",
            "categories": [
                "Gene Expression"
            ]
        },
        {
            "id": "P11465",
            "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11465",
            "database": "BioMuta",
            "categories": [
                "Variation"
            ]
        },
        {
            "id": "cd05740",
            "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05740",
            "database": "CDD",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "cd05774",
            "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05774",
            "database": "CDD",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "cd20948",
            "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd20948",
            "database": "CDD",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PSG2",
            "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSG2",
            "database": "GeneCards",
            "categories": [
                "Gene Annotation",
                "Organism-specific"
            ]
        },
        {
            "id": "5670",
            "url": "https://www.ncbi.nlm.nih.gov/gene/5670",
            "database": "GeneID",
            "categories": [
                "Genome Annotation"
            ]
        },
        {
            "id": "9519",
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9519",
            "database": "HGNC",
            "categories": [
                "Organism-specific"
            ]
        },
        {
            "id": "P11465",
            "url": "https://www.ebi.ac.uk/intact/interactors/id:P11465*",
            "database": "IntAct",
            "categories": [
                "Other"
            ]
        },
        {
            "id": "IPR003598",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR003598",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR003599",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR007110",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR013106",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR013106",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR013783",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR036179",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "hsa:5670",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5670",
            "database": "KEGG Pathway",
            "categories": [
                "Enzyme and Pathway"
            ]
        },
        {
            "id": "176391",
            "url": "http://www.omim.org/entry/176391",
            "database": "MIM",
            "categories": [
                "Other"
            ]
        },
        {
            "id": "NX_P11465",
            "url": "https://www.nextprot.org/entry/NX_P11465",
            "database": "neXtProt",
            "categories": [
                "Protein",
                "Organism-specific"
            ]
        },
        {
            "id": "P11465",
            "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11465",
            "database": "O-GlcNAc Database",
            "categories": [
                "Glycoproteomics"
            ]
        },
        {
            "id": "HKLLITS",
            "url": "https://omabrowser.org/oma/group/HKLLITS/",
            "database": "OMA",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "3033616at2759",
            "url": "http://www.orthodb.org/?query=3033616at2759",
            "database": "OrthoDB",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PTHR44337",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR44337",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PTHR44337:SF15",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR44337:SF15",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PTHR44427",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR44427",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF07686",
            "url": "http://pfam.xfam.org/family/PF07686",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF13895",
            "url": "http://pfam.xfam.org/family/PF13895",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF13927",
            "url": "http://pfam.xfam.org/family/PF13927",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "P11465",
            "url": "https://pharos.nih.gov/targets/P11465",
            "database": "PHAROS",
            "categories": [
                "Organism-specific"
            ]
        },
        {
            "id": "PR_P11465",
            "url": "http://purl.obolibrary.org/obo/PR_P11465",
            "database": "PRO",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "R-HSA-202733",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "NP_112536",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536",
            "database": "RefSeq",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A0A0MR77",
            "url": "https://www.uniprot.org/uniprot/A0A0A0MR77",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A0A0MR77-1",
            "url": "https://www.uniprot.org/uniprot/A0A0A0MR77-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "P11465",
            "url": "https://www.uniprot.org/uniprot/P11465",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "P11465-1",
            "url": "https://www.uniprot.org/uniprot/P11465-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        }
    ],
    "sequence": {
        "sequence": "MGPLSAPPCTEHIKWKGLLVTASLLNFWNLPTTAQVTIEAQPPKVSEGKDVLLLVHNLPQNLTGYIWYKGQIRDLYHYITSYVVDGQIIIYGPAYSGRETAYSNASLLIQNVTREDAGSYTLHIIKRGDGTRGVTGYFTFTLYLETPKPSISSSNLNPREAMETVILTCDPETPDTSYQWWMNGQSLPMTHRFQLSETNRTLFLFGVTKYTAGPYECEIRNSGSASRSDPVTLNLLHGPDLPRIHPSYTNYRSGDNLYLSCFANSNPPAQYSWTINGKFQQSGQNLFIPQITTKHSGLYVCSVRNSATGEESSTSLTVKVSASTRIGLLPLLNPT",
        "length": 335,
        "header": "sp|P11465-1|PSG2_HUMAN Isoform 1 of Pregnancy-specific beta-1-glycoprotein 2  OS=Homo sapiens OX=9606 GN=PSG2 PE=2 SV=2 CANONICAL=P11465-1"
    },
    "isoforms": [
        {
            "isoform_ac": "A0A0A0MR77-1",
            "url": "",
            "sequence": {
                "sequence": "XRNSGSASRSDPVTLNLLHGPDLPRIHPSYTNYRSGDNLYLSCFANSNPPAQYSWTINGKFQQSGQNLFIPQITTKHSGLYVCSVRNSATGEESSTSLTVKVSASTRIGLLPLLNPT",
                "length": 117,
                "header": "tr|A0A0A0MR77-1|A0A0A0MR77_HUMAN Computationally mapped isoform of Pregnancy specific beta-1-glycoprotein 2  OS=Homo sapiens OX=9606 GN=PSG2 PE=1 SV=1 CANONICAL=P11465-1"
            },
            "locus": {
                "chromosome": "19",
                "start_pos": 43075407,
                "end_pos": 43066559,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000329509.6",
                        "url": "https://www.ensembl.org/id/ENST00000329509.6"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000332984.6",
                        "url": "https://www.ensembl.org/id/ENSP00000332984.6"
                    }
                ]
            }
        },
        {
            "isoform_ac": "P11465-1",
            "url": "",
            "sequence": {
                "sequence": "MGPLSAPPCTEHIKWKGLLVTASLLNFWNLPTTAQVTIEAQPPKVSEGKDVLLLVHNLPQNLTGYIWYKGQIRDLYHYITSYVVDGQIIIYGPAYSGRETAYSNASLLIQNVTREDAGSYTLHIIKRGDGTRGVTGYFTFTLYLETPKPSISSSNLNPREAMETVILTCDPETPDTSYQWWMNGQSLPMTHRFQLSETNRTLFLFGVTKYTAGPYECEIRNSGSASRSDPVTLNLLHGPDLPRIHPSYTNYRSGDNLYLSCFANSNPPAQYSWTINGKFQQSGQNLFIPQITTKHSGLYVCSVRNSATGEESSTSLTVKVSASTRIGLLPLLNPT",
                "length": 335,
                "header": "sp|P11465-1|PSG2_HUMAN Isoform 1 of Pregnancy-specific beta-1-glycoprotein 2  OS=Homo sapiens OX=9606 GN=PSG2 PE=2 SV=2 CANONICAL=P11465-1"
            },
            "locus": {
                "chromosome": "19",
                "start_pos": 43082569,
                "end_pos": 43066560,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000406487.6",
                        "url": "https://www.ensembl.org/id/ENST00000406487.6"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000385706.1",
                        "url": "https://www.ensembl.org/id/ENSP00000385706.1"
                    }
                ]
            }
        }
    ],
    "glycosylation": [
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "predicted",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 104,
            "start_aa": "Asn",
            "end_pos": 104,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn104",
            "evidence": [
                {
                    "id": "P11465",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/P11465#ptm_processing"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "predicted",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 111,
            "start_aa": "Asn",
            "end_pos": 111,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn111",
            "evidence": [
                {
                    "id": "P11465",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/P11465#ptm_processing"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "predicted",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 199,
            "start_aa": "Asn",
            "end_pos": 199,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn199",
            "evidence": [
                {
                    "id": "P11465",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/P11465#ptm_processing"
                }
            ]
        },
        {
            "glytoucan_ac": "",
            "type": "N-linked",
            "subtype": "",
            "site_category": "predicted",
            "site_seq": "N",
            "relation": "attached",
            "comment": "N-linked (GlcNAc...) asparagine",
            "start_pos": 61,
            "start_aa": "Asn",
            "end_pos": 61,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn61",
            "evidence": [
                {
                    "id": "P11465",
                    "database": "UniProtKB",
                    "url": "https://www.uniprot.org/uniprot/P11465#ptm_processing"
                }
            ]
        },
        {
            "glytoucan_ac": "G49108TO",
            "type": "O-linked",
            "subtype": "O-GlcNAcylation",
            "site_category": "reported_with_glycan",
            "site_seq": "",
            "relation": "attached",
            "comment": "O-GlcNAcylation",
            "evidence": [
                {
                    "id": "P11465",
                    "database": "O-GlcNAc Database",
                    "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11465"
                },
                {
                    "id": "28411811",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/28411811"
                }
            ]
        }
    ],
    "phosphorylation": [],
    "glycation": [],
    "keywords": [
        "glycoprotein",
        "glycoprotein_predicted",
        "glycoprotein_reported_with_glycan"
    ],
    "publication": [
        {
            "title": "The biology of the 17-1A antigen (Ep-CAM).",
            "journal": "Journal of molecular medicine (Berlin, Germany)",
            "date": "1999",
            "authors": "Balzar M, Winter MJ, de Boer CJ, Litvinov SV",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "10606205",
                    "url": "https://glygen.org/publication/PubMed/10606205"
                }
            ]
        },
        {
            "title": "The CD2-subset of the Ig superfamily of cell surface molecules: receptor-ligand pairs expressed by NK cells and other immune cells.",
            "journal": "Seminars in immunology",
            "date": "2000",
            "authors": "Tangye SG, Phillips JH, Lanier LL",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "10764623",
                    "url": "https://glygen.org/publication/PubMed/10764623"
                }
            ]
        },
        {
            "title": "Molecular analysis of neisserial Opa protein interactions with the CEA family of receptors: identification of determinants contributing to the differential specificities of binding.",
            "journal": "Cellular microbiology",
            "date": "1999",
            "authors": "Popp A, Dehio C, Grunert F, Meyer TF, Gray-Owen SD",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11207550",
                    "url": "https://glygen.org/publication/PubMed/11207550"
                }
            ]
        },
        {
            "title": "Characterization of residues and sequences of the carbohydrate recognition domain required for cell surface localization and ligand binding of human lectin-like oxidized LDL receptor.",
            "journal": "Journal of cell science",
            "date": "2001",
            "authors": "Shi X, Niimi S, Ohtani T, Machida S",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11256994",
                    "url": "https://glygen.org/publication/PubMed/11256994"
                }
            ]
        },
        {
            "title": "CD84 functions as a homophilic adhesion molecule and enhances IFN-gamma secretion: adhesion is mediated by Ig-like domain 1.",
            "journal": "Journal of immunology (Baltimore, Md. : 1950)",
            "date": "2001",
            "authors": "Martin M, Romero X, de la Fuente MA, Tovar V, Zapater N, Esplugues E, Pizcueta P, Bosch J, Engel P",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11564780",
                    "url": "https://glygen.org/publication/PubMed/11564780"
                }
            ]
        },
        {
            "title": "Expression of Fc alpha/mu receptor by human mesangial cells: a candidate receptor for immune complex deposition in IgA nephropathy.",
            "journal": "Biochemical and biophysical research communications",
            "date": "2002",
            "authors": "McDonald KJ, Cameron AJ, Allen JM, Jardine AG",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11779189",
                    "url": "https://glygen.org/publication/PubMed/11779189"
                }
            ]
        },
        {
            "title": "JAM-1 is a ligand of the beta(2) integrin LFA-1 involved in transendothelial migration of leukocytes.",
            "journal": "Nature immunology",
            "date": "2002",
            "authors": "Ostermann G, Weber KS, Zernecke A, Schroder A, Weber C",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11812992",
                    "url": "https://glygen.org/publication/PubMed/11812992"
                }
            ]
        },
        {
            "title": "JAM2 interacts with alpha4beta1. Facilitation by JAM3.",
            "journal": "The Journal of biological chemistry",
            "date": "2002",
            "authors": "Cunningham SA, Rodriguez JM, Arrate MP, Tran TM, Brock TA",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "12070135",
                    "url": "https://glygen.org/publication/PubMed/12070135"
                }
            ]
        },
        {
            "title": "The junctional adhesion molecule 3 (JAM-3) on human platelets is a counterreceptor for the leukocyte integrin Mac-1.",
            "journal": "The Journal of experimental medicine",
            "date": "2002",
            "authors": "Santoso S, Sachs UJ, Kroll H, Linder M, Ruf A, Preissner KT, Chavakis T",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "12208882",
                    "url": "https://glygen.org/publication/PubMed/12208882"
                }
            ]
        },
        {
            "title": "Plasmodium falciparum erythrocyte invasion through glycophorin C and selection for Gerbich negativity in human populations.",
            "journal": "Nature medicine",
            "date": "2003",
            "authors": "Maier AG, Duraisingh MT, Reeder JC, Patel SS, Kazura JW, Zimmerman PA, Cowman AF",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "12469115",
                    "url": "https://glygen.org/publication/PubMed/12469115"
                }
            ]
        },
        {
            "title": "MIF signal transduction initiated by binding to CD74.",
            "journal": "The Journal of experimental medicine",
            "date": "2003",
            "authors": "Leng L, Metz CN, Fang Y, Xu J, Donnelly S, Baugh J, Delohery T, Chen Y, Mitchell RA, Bucala R",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "12782713",
                    "url": "https://glygen.org/publication/PubMed/12782713"
                }
            ]
        },
        {
            "title": "Structural biology of the cell adhesion protein CD2: from molecular recognition to protein folding and design.",
            "journal": "Current protein &amp; peptide science",
            "date": "2003",
            "authors": "Wilkins AL, Yang W, Yang JJ",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "14529530",
                    "url": "https://glygen.org/publication/PubMed/14529530"
                }
            ]
        },
        {
            "title": "Platelet-monocyte complexes support monocyte adhesion to endothelium by enhancing secondary tethering and cluster formation.",
            "journal": "Arteriosclerosis, thrombosis, and vascular biology",
            "date": "2004",
            "authors": "da Costa Martins P, van den Berk N, Ulfman LH, Koenderman L, Hordijk PL, Zwaginga JJ",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "14615387",
                    "url": "https://glygen.org/publication/PubMed/14615387"
                }
            ]
        },
        {
            "title": "Human lectin-like oxidized low-density lipoprotein receptor-1 functions as a dimer in living cells.",
            "journal": "DNA and cell biology",
            "date": "2004",
            "authors": "Xie Q, Matsunaga S, Niimi S, Ogawa S, Tokuyasu K, Sakakibara Y, Machida S",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "15000751",
                    "url": "https://glygen.org/publication/PubMed/15000751"
                }
            ]
        },
        {
            "title": "The functional interaction of the beta 2 integrin lymphocyte function-associated antigen-1 with junctional adhesion molecule-A is mediated by the I domain.",
            "journal": "Journal of immunology (Baltimore, Md. : 1950)",
            "date": "2004",
            "authors": "Fraemohs L, Koenen RR, Ostermann G, Heinemann B, Weber C",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "15528364",
                    "url": "https://glygen.org/publication/PubMed/15528364"
                }
            ]
        },
        {
            "title": "Involvement of JAM-A in mononuclear cell recruitment on inflamed or atherosclerotic endothelium: inhibition by soluble JAM-A.",
            "journal": "Arteriosclerosis, thrombosis, and vascular biology",
            "date": "2005",
            "authors": "Ostermann G, Fraemohs L, Baltus T, Schober A, Lietz M, Zernecke A, Liehn EA, Weber C",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "15681301",
                    "url": "https://glygen.org/publication/PubMed/15681301"
                }
            ]
        },
        {
            "title": "Integrin alpha8beta1-fibronectin interactions promote cell survival via PI3 kinase pathway.",
            "journal": "Biochemical and biophysical research communications",
            "date": "2005",
            "authors": "Farias E, Lu M, Li X, Schnapp LM",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "15721307",
                    "url": "https://glygen.org/publication/PubMed/15721307"
                }
            ]
        },
        {
            "title": "Efficient induction of T-cell responses to carcinoembryonic antigen by a heterologous prime-boost regimen using DNA and adenovirus vectors carrying a codon usage optimized cDNA.",
            "journal": "International journal of cancer",
            "date": "2005",
            "authors": "Mennuni C, Calvaruso F, Facciabene A, Aurisicchio L, Storto M, Scarselli E, Ciliberto G, La Monica N",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_112536",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "15906358",
                    "url": "https://glygen.org/publication/PubMed/15906358"
                }
            ]
        },
        {
            "title": "Human erythrocyte glycophorins: protein and gene structure analyses.",
            "journal": "Transfusion medicine reviews",
            "date": "1992",
            "authors": "Cartron JP, Rahuel C",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "1591491",
                    "url": "https://glygen.org/publication/PubMed/1591491"
                }
            ]
        },
        {
            "title": "beta 1 integrin function in vivo: adhesion, migration and more.",
            "journal": "Cancer metastasis reviews",
            "date": "2005",
            "authors": "Brakebusch C, Fassler R",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "16258728",
                    "url": "https://glygen.org/publication/PubMed/16258728"
                }
            ]
        },
        {
            "title": "Junctional adhesion molecules (JAM)-B and -C contribute to leukocyte extravasation to the skin and mediate cutaneous inflammation.",
            "journal": "The Journal of investigative dermatology",
            "date": "2005",
            "authors": "Ludwig RJ, Zollner TM, Santoso S, Hardt K, Gille J, Baatz H, Johann PS, Pfeffer J, Radeke HH, Schon MP, Kaufmann R, Boehncke WH, Podda M",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "16297198",
                    "url": "https://glygen.org/publication/PubMed/16297198"
                }
            ]
        },
        {
            "title": "CD48 stimulation by 2B4 (CD244)-expressing targets activates human NK cells.",
            "journal": "Journal of immunology (Baltimore, Md. : 1950)",
            "date": "2006",
            "authors": "Messmer B, Eissmann P, Stark S, Watzl C",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "16585556",
                    "url": "https://glygen.org/publication/PubMed/16585556"
                }
            ]
        },
        {
            "title": "The SIRP family of receptors and immune regulation.",
            "journal": "Nature reviews. Immunology",
            "date": "2006",
            "authors": "Barclay AN, Brown MH",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "16691243",
                    "url": "https://glygen.org/publication/PubMed/16691243"
                }
            ]
        },
        {
            "title": "Signalling and functional diversity within the Axl subfamily of receptor tyrosine kinases.",
            "journal": "Cytokine &amp; growth factor reviews",
            "date": "2006",
            "authors": "Hafizi S, Dahlback B",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "16737840",
                    "url": "https://glygen.org/publication/PubMed/16737840"
                }
            ]
        },
        {
            "title": "Junctional adhesion molecule-A regulates cell migration and resistance to shear stress.",
            "journal": "Journal of cellular physiology",
            "date": "2006",
            "authors": "Huang H, Cruz F, Bazzoni G",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "16783819",
                    "url": "https://glygen.org/publication/PubMed/16783819"
                }
            ]
        },
        {
            "title": "Gas6 and protein S. Vitamin K-dependent ligands for the Axl receptor tyrosine kinase subfamily.",
            "journal": "The FEBS journal",
            "date": "2006",
            "authors": "Hafizi S, Dahlback B",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17064312",
                    "url": "https://glygen.org/publication/PubMed/17064312"
                }
            ]
        },
        {
            "title": "JAM-C regulates tight junctions and integrin-mediated cell adhesion and migration.",
            "journal": "The Journal of biological chemistry",
            "date": "2007",
            "authors": "Mandicourt G, Iden S, Ebnet K, Aurrand-Lions M, Imhof BA",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17099249",
                    "url": "https://glygen.org/publication/PubMed/17099249"
                }
            ]
        },
        {
            "title": "PECAM-1, a key player in neuroinflammation.",
            "journal": "European journal of neurology",
            "date": "2006",
            "authors": "Kalinowska A, Losy J",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17116209",
                    "url": "https://glygen.org/publication/PubMed/17116209"
                }
            ]
        },
        {
            "title": "GPI-anchored CEA family glycoproteins CEA and CEACAM6 mediate their biological effects through enhanced integrin alpha5beta1-fibronectin interaction.",
            "journal": "Journal of cellular physiology",
            "date": "2007",
            "authors": "Ordonez C, Zhai AB, Camacho-Leal P, Demarte L, Fan MM, Stanners CP",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17167768",
                    "url": "https://glygen.org/publication/PubMed/17167768"
                }
            ]
        },
        {
            "title": "Impact of salt bridges on the equilibrium binding and adhesion of human CD2 and CD58.",
            "journal": "The Journal of biological chemistry",
            "date": "2007",
            "authors": "Bayas MV, Kearney A, Avramovic A, van der Merwe PA, Leckband DE",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17172599",
                    "url": "https://glygen.org/publication/PubMed/17172599"
                }
            ]
        },
        {
            "title": "P-selectin glycoprotein ligand-1 is expressed on endothelial cells and mediates monocyte adhesion to activated endothelium.",
            "journal": "Arteriosclerosis, thrombosis, and vascular biology",
            "date": "2007",
            "authors": "da Costa Martins P, Garcia-Vallejo JJ, van Thienen JV, Fernandez-Borja M, van Gils JM, Beckers C, Horrevoets AJ, Hordijk PL, Zwaginga JJ",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17322099",
                    "url": "https://glygen.org/publication/PubMed/17322099"
                }
            ]
        },
        {
            "title": "Platelets recruit human dendritic cells via Mac-1/JAM-C interaction and modulate dendritic cell function in vitro.",
            "journal": "Arteriosclerosis, thrombosis, and vascular biology",
            "date": "2007",
            "authors": "Langer HF, Daub K, Braun G, Schonberger T, May AE, Schaller M, Stein GM, Stellos K, Bueltmann A, Siegel-Axel D, Wendel HP, Aebert H, Roecken M, Seizer P, Santoso S, Wesselborg S, Brossart P, Gawaz M",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17379836",
                    "url": "https://glygen.org/publication/PubMed/17379836"
                }
            ]
        },
        {
            "title": "Macrophages and dendritic cells use different Axl/Mertk/Tyro3 receptors in clearance of apoptotic cells.",
            "journal": "Journal of immunology (Baltimore, Md. : 1950)",
            "date": "2007",
            "authors": "Seitz HM, Camenisch TD, Lemke G, Earp HS, Matsushima GK",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17442946",
                    "url": "https://glygen.org/publication/PubMed/17442946"
                }
            ]
        },
        {
            "title": "TREM-1 ligand expression on platelets enhances neutrophil activation.",
            "journal": "Blood",
            "date": "2007",
            "authors": "Haselmayer P, Grosse-Hovest L, von Landenberg P, Schild H, Radsak MP",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17452516",
                    "url": "https://glygen.org/publication/PubMed/17452516"
                }
            ]
        },
        {
            "title": "JAM-A mediates neutrophil transmigration in a stimulus-specific manner in vivo: evidence for sequential roles for JAM-A and PECAM-1 in neutrophil transmigration.",
            "journal": "Blood",
            "date": "2007",
            "authors": "Woodfin A, Reichel CA, Khandoga A, Corada M, Voisin MB, Scheiermann C, Haskard DO, Dejana E, Krombach F, Nourshargh S",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17505016",
                    "url": "https://glygen.org/publication/PubMed/17505016"
                }
            ]
        },
        {
            "title": "The role of junctional adhesion molecules in vascular inflammation.",
            "journal": "Nature reviews. Immunology",
            "date": "2007",
            "authors": "Weber C, Fraemohs L, Dejana E",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17525755",
                    "url": "https://glygen.org/publication/PubMed/17525755"
                }
            ]
        },
        {
            "title": "Structure of CD84 provides insight into SLAM family function.",
            "journal": "Proceedings of the National Academy of Sciences of the United States of America",
            "date": "2007",
            "authors": "Yan Q, Malashkevich VN, Fedorov A, Fedorov E, Cao E, Lary JW, Cole JL, Nathenson SG, Almo SC",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17563375",
                    "url": "https://glygen.org/publication/PubMed/17563375"
                }
            ]
        },
        {
            "title": "The neutrophil-specific antigen CD177 is a counter-receptor for platelet endothelial cell adhesion molecule-1 (CD31).",
            "journal": "The Journal of biological chemistry",
            "date": "2007",
            "authors": "Sachs UJ, Andrei-Selmer CL, Maniar A, Weiss T, Paddock C, Orlova VV, Choi EY, Newman PJ, Preissner KT, Chavakis T, Santoso S",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17580308",
                    "url": "https://glygen.org/publication/PubMed/17580308"
                }
            ]
        },
        {
            "title": "Epithelial cell adhesion molecule: more than a carcinoma marker and adhesion molecule.",
            "journal": "The American journal of pathology",
            "date": "2007",
            "authors": "Trzpis M, McLaughlin PM, de Leij LM, Harmsen MC",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17600130",
                    "url": "https://glygen.org/publication/PubMed/17600130"
                }
            ]
        },
        {
            "title": "JAM family and related proteins in leukocyte migration (Vestweber series).",
            "journal": "Arteriosclerosis, thrombosis, and vascular biology",
            "date": "2007",
            "authors": "Bradfield PF, Nourshargh S, Aurrand-Lions M, Imhof BA",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17615384",
                    "url": "https://glygen.org/publication/PubMed/17615384"
                }
            ]
        },
        {
            "title": "JAM-C regulates unidirectional monocyte transendothelial migration in inflammation.",
            "journal": "Blood",
            "date": "2007",
            "authors": "Bradfield PF, Scheiermann C, Nourshargh S, Ody C, Luscinskas FW, Rainger GE, Nash GB, Miljkovic-Licina M, Aurrand-Lions M, Imhof BA",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "17625065",
                    "url": "https://glygen.org/publication/PubMed/17625065"
                }
            ]
        },
        {
            "title": "Glycophorin B is the erythrocyte receptor of Plasmodium falciparum erythrocyte-binding ligand, EBL-1.",
            "journal": "Proceedings of the National Academy of Sciences of the United States of America",
            "date": "2009",
            "authors": "Mayer DC, Cofie J, Jiang L, Hartl DL, Tracy E, Kabat J, Mendoza LH, Miller LH",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "19279206",
                    "url": "https://glygen.org/publication/PubMed/19279206"
                }
            ]
        },
        {
            "title": "CEA and CA-19.9 serum tumor markers as prognostic factors in patients with locally advanced (unresectable) or metastatic pancreatic adenocarcinoma: a retrospective analysis.",
            "journal": "Journal of chemotherapy (Florence, Italy)",
            "date": "2009",
            "authors": "Tsavaris N, Kosmas C, Papadoniou N, Kopterides P, Tsigritis K, Dokou A, Sarantonis J, Skopelitis H, Tzivras M, Gennatas K, Polyzos A, Papastratis G, Karatzas G, Papalambros A",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_112536",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "20071292",
                    "url": "https://glygen.org/publication/PubMed/20071292"
                }
            ]
        },
        {
            "title": "Pregnancy-specific glycoprotein 1 induces endothelial tubulogenesis through interaction with cell surface proteoglycans.",
            "journal": "The Journal of biological chemistry",
            "date": "2011",
            "authors": "Lisboa FA, Warren J, Sulkowski G, Aparicio M, David G, Zudaire E, Dveksler GS",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "21193412",
                    "url": "https://glygen.org/publication/PubMed/21193412"
                }
            ]
        },
        {
            "title": "Analysis of glycoprotein E-selectin ligands on human and mouse marrow cells enriched for hematopoietic stem/progenitor cells.",
            "journal": "Blood",
            "date": "2011",
            "authors": "Merzaban JS, Burdick MM, Gadhoum SZ, Dagia NM, Chu JT, Fuhlbrigge RC, Sackstein R",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "21659548",
                    "url": "https://glygen.org/publication/PubMed/21659548"
                }
            ]
        },
        {
            "title": "Pregnancy-specific glycoprotein 1 (PSG1) activates TGF-beta and prevents dextran sodium sulfate (DSS)-induced colitis in mice.",
            "journal": "Mucosal immunology",
            "date": "2014",
            "authors": "Blois SM, Sulkowski G, Tirado-Gonzalez I, Warren J, Freitag N, Klapp BF, Rifkin D, Fuss I, Strober W, Dveksler GS",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "23945545",
                    "url": "https://glygen.org/publication/PubMed/23945545"
                }
            ]
        },
        {
            "title": "Biochemical analysis of the Plasmodium falciparum erythrocyte-binding antigen-175 (EBA175)-glycophorin-A interaction: implications for vaccine design.",
            "journal": "The Journal of biological chemistry",
            "date": "2013",
            "authors": "Wanaguru M, Crosnier C, Johnson S, Rayner JC, Wright GJ",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "24043627",
                    "url": "https://glygen.org/publication/PubMed/24043627"
                }
            ]
        },
        {
            "title": "Dominant negative effects of tumor necrosis factor (TNF)-related apoptosis-inducing ligand (TRAIL) receptor 4 on TRAIL receptor 1 signaling by formation of heteromeric complexes.",
            "journal": "The Journal of biological chemistry",
            "date": "2014",
            "authors": "Neumann S, Hasenauer J, Pollak N, Scheurich P",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "24764293",
                    "url": "https://glygen.org/publication/PubMed/24764293"
                }
            ]
        },
        {
            "title": "3D origami electrochemical immunodevice for sensitive point-of-care testing based on dual-signal amplification strategy.",
            "journal": "Biosensors &amp; bioelectronics",
            "date": "2015",
            "authors": "Ma C, Li W, Kong Q, Yang H, Bian Z, Song X, Yu J, Yan M",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_112536",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112536"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "25048447",
                    "url": "https://glygen.org/publication/PubMed/25048447"
                }
            ]
        },
        {
            "title": "The roles of protein C and thrombomodulin in the regulation of blood coagulation.",
            "journal": "The Journal of biological chemistry",
            "date": "1989",
            "authors": "Esmon CT",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "2538457",
                    "url": "https://glygen.org/publication/PubMed/2538457"
                }
            ]
        },
        {
            "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.",
            "journal": "Talanta",
            "date": "2017",
            "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X",
            "evidence": [
                {
                    "database": "O-GlcNAc Database",
                    "id": "P11465",
                    "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11465"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "28411811",
                    "url": "https://glygen.org/publication/PubMed/28411811"
                }
            ]
        },
        {
            "title": "The human pregnancy-specific beta 1-glycoprotein (PS beta G) and the carcinoembryonic antigen (CEA)-related proteins are members of the same multigene family.",
            "journal": "Biochem. Biophys. Res. Commun.",
            "date": "1988",
            "authors": "Streydio C, Lacka K, Swillens S, Vassart G",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P11465",
                    "url": "https://www.uniprot.org/uniprot/P11465"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "3260773",
                    "url": "https://glygen.org/publication/PubMed/3260773"
                }
            ]
        },
        {
            "title": "Human plasma protein C: isolation, characterization, and mechanism of activation by alpha-thrombin.",
            "journal": "The Journal of clinical investigation",
            "date": "1979",
            "authors": "Kisiel W",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "468991",
                    "url": "https://glygen.org/publication/PubMed/468991"
                }
            ]
        },
        {
            "title": "Insight into E-selectin/ligand interaction from the crystal structure and mutagenesis of the lec/EGF domains.",
            "journal": "Nature",
            "date": "1994",
            "authors": "Graves BJ, Crowther RL, Chandran C, Rumberger JM, Li S, Huang KS, Presky DH, Familletti PC, Wolitzky BA, Burns DK",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "7509040",
                    "url": "https://glygen.org/publication/PubMed/7509040"
                }
            ]
        },
        {
            "title": "The P-selectin glycoprotein ligand from human neutrophils displays sialylated, fucosylated, O-linked poly-N-acetyllactosamine.",
            "journal": "The Journal of biological chemistry",
            "date": "1994",
            "authors": "Moore KL, Eaton SF, Lyons DE, Lichenstein HS, Cummings RD, McEver RP",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "7521878",
                    "url": "https://glygen.org/publication/PubMed/7521878"
                }
            ]
        },
        {
            "title": "Ep-CAM: a human epithelial antigen is a homophilic cell-cell adhesion molecule.",
            "journal": "The Journal of cell biology",
            "date": "1994",
            "authors": "Litvinov SV, Velders MP, Bakker HA, Fleuren GJ, Warnaar SO",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "8163559",
                    "url": "https://glygen.org/publication/PubMed/8163559"
                }
            ]
        },
        {
            "title": "The surrogate light chain in B-cell development.",
            "journal": "Immunology today",
            "date": "1993",
            "authors": "Melchers F, Karasuyama H, Haasner D, Bauer S, Kudo A, Sakaguchi N, Jameson B, Rolink A",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "8166770",
                    "url": "https://glygen.org/publication/PubMed/8166770"
                }
            ]
        },
        {
            "title": "The alpha v beta 1 integrin functions as a fibronectin receptor but does not support fibronectin matrix assembly and cell migration on fibronectin.",
            "journal": "The Journal of cell biology",
            "date": "1993",
            "authors": "Zhang Z, Morla AO, Vuori K, Bauer JS, Juliano RL, Ruoslahti E",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "8314844",
                    "url": "https://glygen.org/publication/PubMed/8314844"
                }
            ]
        },
        {
            "title": "An endothelial receptor for oxidized low-density lipoprotein.",
            "journal": "Nature",
            "date": "1997",
            "authors": "Sawamura T, Kume N, Aoyama T, Moriwaki H, Hoshikawa H, Aiba Y, Tanaka T, Miwa S, Katsura Y, Kita T, Masaki T",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "9052782",
                    "url": "https://glygen.org/publication/PubMed/9052782"
                }
            ]
        },
        {
            "title": "Differential recognition of members of the carcinoembryonic antigen family by Opa variants of Neisseria gonorrhoeae.",
            "journal": "Infection and immunity",
            "date": "1997",
            "authors": "Bos MP, Grunert F, Belland RJ",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "9169774",
                    "url": "https://glygen.org/publication/PubMed/9169774"
                }
            ]
        },
        {
            "title": "An antagonist decoy receptor and a death domain-containing receptor for TRAIL.",
            "journal": "Science (New York, N.Y.)",
            "date": "1997",
            "authors": "Pan G, Ni J, Wei YF, Yu G, Gentz R, Dixit VM",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "9242610",
                    "url": "https://glygen.org/publication/PubMed/9242610"
                }
            ]
        },
        {
            "title": "A novel association of Fc receptor gamma-chain with glycoprotein VI and their co-expression as a collagen receptor in human platelets.",
            "journal": "The Journal of biological chemistry",
            "date": "1997",
            "authors": "Tsuji M, Ezumi Y, Arai M, Takayama H",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "9295288",
                    "url": "https://glygen.org/publication/PubMed/9295288"
                }
            ]
        },
        {
            "title": "Epithelial cell adhesion molecule (Ep-CAM) modulates cell-cell interactions mediated by classic cadherins.",
            "journal": "The Journal of cell biology",
            "date": "1997",
            "authors": "Litvinov SV, Balzar M, Winter MJ, Bakker HA, Briaire-de Bruijn IH, Prins F, Fleuren GJ, Warnaar SO",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "9382878",
                    "url": "https://glygen.org/publication/PubMed/9382878"
                }
            ]
        },
        {
            "title": "Identification of the lectin-like receptor for oxidized low-density lipoprotein in human macrophages and its potential role as a scavenger receptor.",
            "journal": "The Biochemical journal",
            "date": "1998",
            "authors": "Yoshida H, Kondratenko N, Green S, Steinberg D, Quehenberger O",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "9693095",
                    "url": "https://glygen.org/publication/PubMed/9693095"
                }
            ]
        },
        {
            "title": "Ligand specificity of LOX-1, a novel endothelial receptor for oxidized low density lipoprotein.",
            "journal": "Arteriosclerosis, thrombosis, and vascular biology",
            "date": "1998",
            "authors": "Moriwaki H, Kume N, Sawamura T, Aoyama T, Hoshikawa H, Ochi H, Nishi E, Masaki T, Kita T",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-202733",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "9763524",
                    "url": "https://glygen.org/publication/PubMed/9763524"
                }
            ]
        }
    ],
    "pathway": [
        {
            "id": "hsa:5670",
            "name": "",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5670",
            "resource": "KEGG Pathway"
        },
        {
            "id": "R-HSA-202733",
            "name": "Cell surface interactions at the vascular wall",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-202733",
            "resource": "Reactome",
            "description": "Cell surface interactions at the vascular wall"
        }
    ],
    "orthologs": [],
    "go_annotation": {
        "categories": [
            {
                "name": "Cellular Component",
                "total": 2,
                "go_terms": [
                    {
                        "name": "extracellular region",
                        "id": "GO:0005576",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P11465",
                                "url": "https://www.uniprot.org/uniprot/P11465"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "cell surface",
                        "id": "GO:0009986",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P11465",
                                "url": "https://www.uniprot.org/uniprot/P11465"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            },
            {
                "name": "Biological Process",
                "total": 3,
                "go_terms": [
                    {
                        "name": "cell migration",
                        "id": "GO:0016477",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P11465",
                                "url": "https://www.uniprot.org/uniprot/P11465"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "female pregnancy",
                        "id": "GO:0007565",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P11465",
                                "url": "https://www.uniprot.org/uniprot/P11465"
                            }
                        ],
                        "pmid": ""
                    },
                    {
                        "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules",
                        "id": "GO:0007157",
                        "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157",
                        "evidence": [
                            {
                                "database": "UniProtKB",
                                "id": "P11465",
                                "url": "https://www.uniprot.org/uniprot/P11465"
                            }
                        ],
                        "pmid": ""
                    }
                ]
            }
        ]
    },
    "pro_annotation": [],
    "site_annotation": [
        {
            "start_pos": 104,
            "end_pos": 106,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 111,
            "end_pos": 113,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 199,
            "end_pos": 201,
            "annotation": "n_glycosylation_sequon"
        },
        {
            "start_pos": 61,
            "end_pos": 63,
            "annotation": "n_glycosylation_sequon"
        }
    ],
    "ptm_annotation": [],
    "interactions": [],
    "reactions": [],
    "reaction_participants": [],
    "reaction_enzymes": [],
    "biomarkers": [],
    "synthesized_glycans": [],
    "cluster_types": [
        {
            "name": "isoformset.uniprotkb",
            "label": "Isoforms"
        }
    ],
    "sequence_features": {
        "n_linked_sites": [
            61,
            104,
            111,
            199
        ],
        "o_linked_sites": [],
        "snv_sites": [
            20,
            31,
            59,
            63,
            79,
            106,
            129,
            137,
            166,
            175,
            199,
            209,
            251,
            263,
            266,
            278,
            287,
            307,
            312,
            334
        ],
        "glycation_sites": [],
        "phosphorylation_sites": [],
        "sequon_annotation_sites": [
            {
                "start_pos": 104,
                "end_pos": 106
            },
            {
                "start_pos": 111,
                "end_pos": 113
            },
            {
                "start_pos": 199,
                "end_pos": 201
            },
            {
                "start_pos": 61,
                "end_pos": 63
            }
        ]
    },
    "section_stats": [
        {
            "table_id": "glycosylation",
            "table_stats": [
                {
                    "field": "total",
                    "count": 5
                },
                {
                    "field": "total_sites",
                    "count": 5
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 4
                },
                {
                    "field": "o_linked_glycans",
                    "count": 1
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 1
                }
            ],
            "sort_fields": [
                "glytoucan_ac",
                "type",
                "subtype",
                "site_category",
                "site_seq",
                "relation",
                "comment",
                "start_pos",
                "start_aa",
                "end_pos",
                "end_aa",
                "residue",
                "site_lbl"
            ]
        },
        {
            "table_id": "glycosylation_reported",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 0
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "glycosylation_reported_with_glycan",
            "table_stats": [
                {
                    "field": "total",
                    "count": 1
                },
                {
                    "field": "total_sites",
                    "count": 1
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 0
                },
                {
                    "field": "o_linked_glycans",
                    "count": 1
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 1
                }
            ],
            "sort_fields": [
                "glytoucan_ac",
                "type",
                "subtype",
                "site_category",
                "site_seq",
                "relation",
                "comment",
                "start_pos",
                "start_aa",
                "end_pos",
                "end_aa",
                "residue",
                "site_lbl"
            ]
        },
        {
            "table_id": "glycosylation_predicted",
            "table_stats": [
                {
                    "field": "total",
                    "count": 4
                },
                {
                    "field": "total_sites",
                    "count": 4
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 4
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": [
                "glytoucan_ac",
                "type",
                "subtype",
                "site_category",
                "site_seq",
                "relation",
                "comment",
                "start_pos",
                "start_aa",
                "end_pos",
                "end_aa",
                "residue",
                "site_lbl"
            ]
        },
        {
            "table_id": "glycosylation_automatic_literature_mining",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                },
                {
                    "field": "n_linked_glycans",
                    "count": 0
                },
                {
                    "field": "n_linked_glycan_sites",
                    "count": 0
                },
                {
                    "field": "o_linked_glycans",
                    "count": 0
                },
                {
                    "field": "o_linked_glycan_sites",
                    "count": 0
                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "phosphorylation",
            "table_stats": [
                {
                    "field": "total",
                    "count": 0
                },
                {
                    "field": "total_sites",
                    "count": 0
                }
            ],
            "sort_fields": []
        },
        {
            "table_id": "snv",
            "table_stats": [
                {
                    "field": "total",
                    "count": 22
                },
                {
                    "field": "total_sites",
                    "count": 20
                }
            ],
            "sort_fields": [
                "start_pos",
                "end_pos",
                "sequence_org",
                "sequence_mut",
                "comment",
                "chr_id",
                "chr_pos",
                "ref_nt",
                "alt_nt",
                "minor_allelic_frequency",
                "site_lbl",
                "subjects_tested",
                "subjects_positive",
                "frequency"
            ]
        },
        {
            "table_id": "snv_disease",
            "table_stats": [
                {
                    "field": "total",
                    "count": 6
                },
                {
                    "field": "total_sites",
                    "count": 6
                }
            ],
            "sort_fields": [
                "start_pos",
                "end_pos",
                "sequence_org",
                "sequence_mut",
                "comment",
                "chr_id",
                "chr_pos",
                "ref_nt",
                "alt_nt",
                "minor_allelic_frequency",
                "site_lbl",
                "subjects_tested",
                "subjects_positive",
                "frequency"
            ]
        },
        {
            "table_id": "snv_non_disease",
            "table_stats": [
                {
                    "field": "total",
                    "count": 16
                },
                {
                    "field": "total_sites",
                    "count": 15
                }
            ],
            "sort_fields": [
                "start_pos",
                "end_pos",
                "sequence_org",
                "sequence_mut",
                "comment",
                "chr_id",
                "chr_pos",
                "ref_nt",
                "alt_nt",
                "minor_allelic_frequency",
                "site_lbl",
                "subjects_tested",
                "subjects_positive",
                "frequency"
            ]
        },
        {
            "table_id": "publication",
            "table_stats": [
                {
                    "field": "total",
                    "count": 65
                }
            ],
            "sort_fields": [
                "title",
                "journal",
                "date",
                "authors"
            ]
        }
    ]
}
