{
    "uniprot_canonical_ac": "P15509-1",
    "uniprot_ac": "P15509",
    "uniprot_id": "CSF2R_HUMAN",
    "mass": {
        "chemical_mass": 46207.0,
        "monoisotopic_mass": 46207.0
    },
    "refseq": {
        "ac": "NP_001155001",
        "name": "granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor",
        "summary": "The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008].",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001"
    },
    "gene_names": [
        {
            "name": "CSF2RA",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/P15509",
            "id": "P15509"
        },
        {
            "name": "CSF2RA",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001",
            "id": "NP_001155001"
        },
        {
            "name": "CSF2RY",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/P15509",
            "id": "P15509"
        },
        {
            "name": "CSF2R",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/P15509",
            "id": "P15509"
        },
        {
            "name": "alphaGMR; CD116; CDw116; CSF2R; CSF2RAX; CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR; GMCSFR-alpha; GMR; GMR-alpha; SMDP4",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001",
            "id": "NP_001155001"
        }
    ],
    "protein_names": [
        {
            "name": "Granulocyte-macrophage colony-stimulating factor receptor subunit alpha",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "P15509"
        },
        {
            "name": "CDw116",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P15509"
        },
        {
            "name": "GM-CSF-R-alpha",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P15509"
        },
        {
            "name": "GMCSFR-alpha",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P15509"
        },
        {
            "name": "GMR-alpha",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "P15509"
        },
        {
            "name": "granulocyte-macrophage colony-stimulating factor receptor alpha chain; CD116 antigen; GM-CSF receptor alpha subunit; granulocyte-macrophage colony-stimulating factor receptor subunit alpha; colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage); alpha-GM-CSF receptor; colony stimulating factor 2 receptor alpha subunit",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001",
            "id": "NP_001155001"
        },
        {
            "name": "granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001",
            "id": "NP_001155001"
        }
    ],
    "function": [
        {
            "annotation": "A murine model of hereditary pulmonary alveolar proteinosis caused by homozygous Csf2ra gene disruption.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001155001",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001"
                },
                {
                    "database": "PubMed",
                    "id": "35043685",
                    "url": "https://glygen.org/publication/PubMed/35043685"
                }
            ]
        },
        {
            "annotation": "CD116+ fetal precursors migrate to the perinatal lung and give rise to human alveolar macrophages.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001155001",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001"
                },
                {
                    "database": "PubMed",
                    "id": "35019940",
                    "url": "https://glygen.org/publication/PubMed/35019940"
                }
            ]
        },
        {
            "annotation": "Expression of granulocyte macrophage-colony stimulating factor and its receptor in the synovium of osteoarthritis patients is negatively correlated with pain.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001155001",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001"
                },
                {
                    "database": "PubMed",
                    "id": "32365364",
                    "url": "https://glygen.org/publication/PubMed/32365364"
                }
            ]
        },
        {
            "annotation": "Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P15509",
                    "url": "https://www.uniprot.org/uniprot/P15509#function"
                }
            ]
        },
        {
            "annotation": "MiR-532-3p-CSF2RA Axis as a Key Regulator of Vulnerable Atherosclerotic Plaque Formation.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001155001",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001"
                },
                {
                    "database": "PubMed",
                    "id": "32473103",
                    "url": "https://glygen.org/publication/PubMed/32473103"
                }
            ]
        },
        {
            "annotation": "The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008].",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001155001",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001"
                }
            ]
        },
        {
            "annotation": "These data show that loss of membrane GM-CSFRalpha following GM-CSF exposure does not preclude sustained GM-CSF/GM-CSFRalpha signaling and that this receptor plays a key role in ligand clearance. Hence neutrophilic activation via GM-CSFR may play an important role in neutrophilic lung inflammation even in the absence of high GM-CSF levels or GM-CSFRalpha expression.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001155001",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001"
                },
                {
                    "database": "PubMed",
                    "id": "30942918",
                    "url": "https://glygen.org/publication/PubMed/30942918"
                }
            ]
        }
    ],
    "disease": [
        {
            "disease_id": "DOID:12120",
            "recommended_name": {
                "id": "DOID:12120",
                "resource": "Disease Ontology",
                "url": "http://disease-ontology.org/term/DOID:12120",
                "name": "pulmonary alveolar proteinosis",
                "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange."
            },
            "synonyms": [
                {
                    "id": "MONDO:0024465",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                    "name": "surfactant metabolism dysfunction, pulmonary, 2",
                    "description": ""
                },
                {
                    "id": "MONDO:0024465",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                    "name": "SMDP2",
                    "description": ""
                },
                {
                    "id": "MONDO:0024465",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                    "name": "desquamative interstitial pneumonitis due to surfactant Protein C deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0024465",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                    "name": "interstitial lung disease due to surfactant Protein C deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0024465",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                    "name": "pulmonary alveolar proteinosis, congenital, 2",
                    "description": ""
                },
                {
                    "id": "MONDO:0024465",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                    "name": "surfactant metabolism dysfunction, pulmonary, 2",
                    "description": ""
                },
                {
                    "id": "MONDO:0010424",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                    "name": "surfactant metabolism dysfunction, pulmonary, 4",
                    "description": ""
                },
                {
                    "id": "MONDO:0010424",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                    "name": "surfactant metabolism dysfunction, pulmonary, 4",
                    "description": ""
                },
                {
                    "id": "MONDO:0010424",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                    "name": "surfactant metabolism dysfunction, pulmonary, type 4",
                    "description": ""
                },
                {
                    "id": "MONDO:0010424",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                    "name": "Csf2Ra deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0010424",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                    "name": "Pap due to Csf2Ra deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0010424",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                    "name": "SMDP4",
                    "description": ""
                },
                {
                    "id": "MONDO:0010424",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                    "name": "pulmonary alveolar proteinosis, congenital, 4",
                    "description": ""
                },
                {
                    "id": "MONDO:0012582",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                    "name": "interstitial lung disease due to ABCA3 deficiency",
                    "description": "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea."
                },
                {
                    "id": "MONDO:0012582",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                    "name": "interstitial lung disease due to ABCA3 deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0012582",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                    "name": "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0012582",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                    "name": "surfactant metabolism dysfunction, pulmonary, type 3",
                    "description": ""
                },
                {
                    "id": "MONDO:0012582",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                    "name": "SMDP3",
                    "description": ""
                },
                {
                    "id": "MONDO:0012582",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                    "name": "pulmonary alveolar proteinosis, congenital, 3",
                    "description": ""
                },
                {
                    "id": "MONDO:0012582",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                    "name": "surfactant metabolism dysfunction, pulmonary, 3",
                    "description": ""
                },
                {
                    "id": "MONDO:0013712",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                    "name": "surfactant metabolism dysfunction, pulmonary, 5",
                    "description": "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene."
                },
                {
                    "id": "MONDO:0013712",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                    "name": "CSF2RB hereditary pulmonary alveolar proteinosis",
                    "description": ""
                },
                {
                    "id": "MONDO:0013712",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                    "name": "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB",
                    "description": ""
                },
                {
                    "id": "MONDO:0013712",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                    "name": "surfactant metabolism dysfunction, pulmonary, 5",
                    "description": ""
                },
                {
                    "id": "MONDO:0013712",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                    "name": "surfactant metabolism dysfunction, pulmonary, type 5",
                    "description": ""
                },
                {
                    "id": "MONDO:0013712",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                    "name": "Csf2Rb deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013712",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                    "name": "Pap due to Csf2Rb deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0013712",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                    "name": "SMDP5",
                    "description": ""
                },
                {
                    "id": "MONDO:0013712",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                    "name": "pulmonary alveolar proteinosis 5",
                    "description": ""
                },
                {
                    "id": "MONDO:0009929",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                    "name": "neonatal acute respiratory distress due to SP-B deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0009929",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                    "name": "SMDP1",
                    "description": ""
                },
                {
                    "id": "MONDO:0009929",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                    "name": "interstitial lung disease due to surfactant Protein B deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0009929",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                    "name": "neonatal acute respiratory distress due to surfactant protein B deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0009929",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                    "name": "pulmonary alveolar proteinosis, congenital, 1",
                    "description": ""
                },
                {
                    "id": "MONDO:0009929",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                    "name": "surfactant metabolism dysfunction, pulmonary, 1",
                    "description": ""
                },
                {
                    "id": "MONDO:0009929",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                    "name": "surfactant metabolism dysfunction, pulmonary, type 1",
                    "description": ""
                },
                {
                    "id": "MONDO:0009929",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                    "name": "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency",
                    "description": ""
                },
                {
                    "id": "MONDO:0009929",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                    "name": "pulmonary surfactant protein B, deficiency of",
                    "description": ""
                },
                {
                    "id": "MIM:610913",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/610913",
                    "name": "Pulmonary surfactant metabolism dysfunction 2",
                    "description": "Pulmonary surfactant metabolism dysfunction 2"
                },
                {
                    "id": "MIM:300770",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/300770",
                    "name": "Pulmonary surfactant metabolism dysfunction 4",
                    "description": "Pulmonary surfactant metabolism dysfunction 4"
                },
                {
                    "id": "MIM:610921",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/610921",
                    "name": "Pulmonary surfactant metabolism dysfunction 3",
                    "description": "Pulmonary surfactant metabolism dysfunction 3"
                },
                {
                    "id": "MIM:614370",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/614370",
                    "name": "Pulmonary surfactant metabolism dysfunction 5",
                    "description": "Pulmonary surfactant metabolism dysfunction 5"
                },
                {
                    "id": "MIM:265120",
                    "resource": "MIM",
                    "url": "https://www.omim.org/entry/265120",
                    "name": "Pulmonary surfactant metabolism dysfunction 1",
                    "description": "Pulmonary surfactant metabolism dysfunction 1"
                }
            ],
            "evidence": [
                {
                    "id": "300770",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300770"
                }
            ]
        }
    ],
    "snv": [
        {
            "evidence": [
                {
                    "id": "rs1603426236",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1603426236"
                },
                {
                    "id": "rs1603426236",
                    "database": "ENSEMBL",
                    "url": "https://www.ensembl.org/id/rs1603426236"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 56,
            "end_pos": 56,
            "sequence_org": "T",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TFS->NFS); n-glyco-sequon-loss (NTT->NTN).",
            "chr_id": "X",
            "chr_pos": "1285868",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T56",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1341905354",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341905354"
                },
                {
                    "id": "rs1341905354",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1341905354#frequency_tab"
                },
                {
                    "id": "rs1341905354",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1341905354"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 101,
            "end_pos": 101,
            "sequence_org": "S",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTN).",
            "chr_id": "X",
            "chr_pos": "1288601",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S101",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs2091055139",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2091055139"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 123,
            "end_pos": 123,
            "sequence_org": "N",
            "sequence_mut": "null",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFS->nullFS).",
            "chr_id": "X",
            "chr_pos": "1288783_1288792",
            "ref_nt": "l",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N123",
            "disease": [
                {
                    "disease_id": "DOID:12120",
                    "recommended_name": {
                        "id": "DOID:12120",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:12120",
                        "name": "pulmonary alveolar proteinosis",
                        "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "surfactant metabolism dysfunction, pulmonary, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "SMDP2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "desquamative interstitial pneumonitis due to surfactant Protein C deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "interstitial lung disease due to surfactant Protein C deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "pulmonary alveolar proteinosis, congenital, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "surfactant metabolism dysfunction, pulmonary, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "Csf2Ra deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "Pap due to Csf2Ra deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "SMDP4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "pulmonary alveolar proteinosis, congenital, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ABCA3 deficiency",
                            "description": "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea."
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ABCA3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "SMDP3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "pulmonary alveolar proteinosis, congenital, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "surfactant metabolism dysfunction, pulmonary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, 5",
                            "description": "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene."
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "CSF2RB hereditary pulmonary alveolar proteinosis",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "Csf2Rb deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "Pap due to Csf2Rb deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "SMDP5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "pulmonary alveolar proteinosis 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "neonatal acute respiratory distress due to SP-B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "SMDP1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "interstitial lung disease due to surfactant Protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "neonatal acute respiratory distress due to surfactant protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "pulmonary alveolar proteinosis, congenital, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "surfactant metabolism dysfunction, pulmonary, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "pulmonary surfactant protein B, deficiency of",
                            "description": ""
                        },
                        {
                            "id": "MIM:610913",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/610913",
                            "name": "Pulmonary surfactant metabolism dysfunction 2",
                            "description": "Pulmonary surfactant metabolism dysfunction 2"
                        },
                        {
                            "id": "MIM:300770",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/300770",
                            "name": "Pulmonary surfactant metabolism dysfunction 4",
                            "description": "Pulmonary surfactant metabolism dysfunction 4"
                        },
                        {
                            "id": "MIM:610921",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/610921",
                            "name": "Pulmonary surfactant metabolism dysfunction 3",
                            "description": "Pulmonary surfactant metabolism dysfunction 3"
                        },
                        {
                            "id": "MIM:614370",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/614370",
                            "name": "Pulmonary surfactant metabolism dysfunction 5",
                            "description": "Pulmonary surfactant metabolism dysfunction 5"
                        },
                        {
                            "id": "MIM:265120",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/265120",
                            "name": "Pulmonary surfactant metabolism dysfunction 1",
                            "description": "Pulmonary surfactant metabolism dysfunction 1"
                        }
                    ]
                }
            ],
            "keywords": [
                "ebi",
                "germline",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P15509",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P15509"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 125,
            "end_pos": 125,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "S",
            "sequence_mut": "C",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFS->NFC).",
            "chr_id": "X",
            "chr_pos": "1288789",
            "ref_nt": "C",
            "alt_nt": "G",
            "minor_allelic_frequency": "",
            "site_lbl": "S125",
            "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": "P15509",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P15509"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 125,
            "end_pos": 125,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "S",
            "sequence_mut": "F",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NFS->NFF).",
            "chr_id": "X",
            "chr_pos": "1288789",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "S125",
            "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: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": "P15509",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P15509"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 184,
            "end_pos": 184,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "S",
            "sequence_mut": "L",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NLS->NLL).",
            "chr_id": "X",
            "chr_pos": "1290414",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "S184",
            "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": "rs1361648976",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1361648976"
                },
                {
                    "id": "rs1361648976",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1361648976#frequency_tab"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 195,
            "end_pos": 195,
            "sequence_org": "N",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->TGT).",
            "chr_id": "X",
            "chr_pos": "1290447",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N195",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs760610115",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760610115"
                },
                {
                    "id": "rs760610115",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760610115"
                },
                {
                    "id": "rs760610115",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs760610115"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 197,
            "end_pos": 197,
            "sequence_org": "T",
            "sequence_mut": "P",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGP).",
            "chr_id": "X",
            "chr_pos": "1290452",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T197",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs768648388",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768648388"
                },
                {
                    "id": "rs768648388",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768648388"
                },
                {
                    "id": "rs768648388",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs768648388#frequency_tab"
                },
                {
                    "id": "rs768648388",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs768648388"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 223,
            "end_pos": 223,
            "sequence_org": "N",
            "sequence_mut": "I",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->IVT).",
            "chr_id": "X",
            "chr_pos": "1294349",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N223",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs768648388",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768648388"
                },
                {
                    "id": "rs768648388",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768648388"
                },
                {
                    "id": "rs768648388",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs768648388#frequency_tab"
                },
                {
                    "id": "rs768648388",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs768648388"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 223,
            "end_pos": 223,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->SVT).",
            "chr_id": "X",
            "chr_pos": "1294349",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N223",
            "disease": [
                {
                    "disease_id": "DOID:12120",
                    "recommended_name": {
                        "id": "DOID:12120",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:12120",
                        "name": "pulmonary alveolar proteinosis",
                        "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "surfactant metabolism dysfunction, pulmonary, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "SMDP2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "desquamative interstitial pneumonitis due to surfactant Protein C deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "interstitial lung disease due to surfactant Protein C deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "pulmonary alveolar proteinosis, congenital, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "surfactant metabolism dysfunction, pulmonary, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "Csf2Ra deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "Pap due to Csf2Ra deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "SMDP4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "pulmonary alveolar proteinosis, congenital, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ABCA3 deficiency",
                            "description": "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea."
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ABCA3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "SMDP3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "pulmonary alveolar proteinosis, congenital, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "surfactant metabolism dysfunction, pulmonary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, 5",
                            "description": "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene."
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "CSF2RB hereditary pulmonary alveolar proteinosis",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "Csf2Rb deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "Pap due to Csf2Rb deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "SMDP5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "pulmonary alveolar proteinosis 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "neonatal acute respiratory distress due to SP-B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "SMDP1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "interstitial lung disease due to surfactant Protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "neonatal acute respiratory distress due to surfactant protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "pulmonary alveolar proteinosis, congenital, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "surfactant metabolism dysfunction, pulmonary, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "pulmonary surfactant protein B, deficiency of",
                            "description": ""
                        },
                        {
                            "id": "MIM:610913",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/610913",
                            "name": "Pulmonary surfactant metabolism dysfunction 2",
                            "description": "Pulmonary surfactant metabolism dysfunction 2"
                        },
                        {
                            "id": "MIM:300770",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/300770",
                            "name": "Pulmonary surfactant metabolism dysfunction 4",
                            "description": "Pulmonary surfactant metabolism dysfunction 4"
                        },
                        {
                            "id": "MIM:610921",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/610921",
                            "name": "Pulmonary surfactant metabolism dysfunction 3",
                            "description": "Pulmonary surfactant metabolism dysfunction 3"
                        },
                        {
                            "id": "MIM:614370",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/614370",
                            "name": "Pulmonary surfactant metabolism dysfunction 5",
                            "description": "Pulmonary surfactant metabolism dysfunction 5"
                        },
                        {
                            "id": "MIM:265120",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/265120",
                            "name": "Pulmonary surfactant metabolism dysfunction 1",
                            "description": "Pulmonary surfactant metabolism dysfunction 1"
                        }
                    ]
                }
            ],
            "keywords": [
                "ebi",
                "germline",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P15509",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P15509"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 225,
            "end_pos": 225,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "T",
            "sequence_mut": "I",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NVT->NVI).",
            "chr_id": "X",
            "chr_pos": "1294355",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "T225",
            "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": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs753365322",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753365322"
                },
                {
                    "id": "rs753365322",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753365322"
                },
                {
                    "id": "rs753365322",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs753365322"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 229,
            "end_pos": 229,
            "sequence_org": "N",
            "sequence_mut": "K",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->KTT).",
            "chr_id": "X",
            "chr_pos": "1294368",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N229",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P15509",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P15509"
                },
                {
                    "id": "rs149974131",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149974131"
                },
                {
                    "id": "rs149974131",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149974131"
                },
                {
                    "id": "rs149974131",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs149974131#frequency_tab"
                },
                {
                    "id": "rs149974131",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs149974131"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 231,
            "end_pos": 231,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "T",
            "sequence_mut": "M",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NTT->NTM).",
            "chr_id": "X",
            "chr_pos": "1294373",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "T231",
            "disease": [
                {
                    "disease_id": "DOID:1319",
                    "recommended_name": {
                        "id": "DOID:1319",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1319",
                        "name": "brain cancer",
                        "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "BT - Brain tumour",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "adult brain tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "adult malignant brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "brain neoplasm, adult",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant brain tumour",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant primary brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant primary brain tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant tumor of Brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "malignant tumor of adult brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "neoplasm of brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "primary brain neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "primary brain tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "primary malignant neoplasm of brain",
                            "description": ""
                        },
                        {
                            "id": "DOID:1319",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1319",
                            "name": "tumor of the Brain",
                            "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:12120",
                    "recommended_name": {
                        "id": "DOID:12120",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:12120",
                        "name": "pulmonary alveolar proteinosis",
                        "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "surfactant metabolism dysfunction, pulmonary, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "SMDP2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "desquamative interstitial pneumonitis due to surfactant Protein C deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "interstitial lung disease due to surfactant Protein C deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "pulmonary alveolar proteinosis, congenital, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "surfactant metabolism dysfunction, pulmonary, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "Csf2Ra deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "Pap due to Csf2Ra deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "SMDP4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "pulmonary alveolar proteinosis, congenital, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ABCA3 deficiency",
                            "description": "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea."
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ABCA3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "SMDP3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "pulmonary alveolar proteinosis, congenital, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "surfactant metabolism dysfunction, pulmonary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, 5",
                            "description": "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene."
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "CSF2RB hereditary pulmonary alveolar proteinosis",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "Csf2Rb deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "Pap due to Csf2Rb deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "SMDP5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "pulmonary alveolar proteinosis 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "neonatal acute respiratory distress due to SP-B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "SMDP1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "interstitial lung disease due to surfactant Protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "neonatal acute respiratory distress due to surfactant protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "pulmonary alveolar proteinosis, congenital, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "surfactant metabolism dysfunction, pulmonary, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "pulmonary surfactant protein B, deficiency of",
                            "description": ""
                        },
                        {
                            "id": "MIM:610913",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/610913",
                            "name": "Pulmonary surfactant metabolism dysfunction 2",
                            "description": "Pulmonary surfactant metabolism dysfunction 2"
                        },
                        {
                            "id": "MIM:300770",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/300770",
                            "name": "Pulmonary surfactant metabolism dysfunction 4",
                            "description": "Pulmonary surfactant metabolism dysfunction 4"
                        },
                        {
                            "id": "MIM:610921",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/610921",
                            "name": "Pulmonary surfactant metabolism dysfunction 3",
                            "description": "Pulmonary surfactant metabolism dysfunction 3"
                        },
                        {
                            "id": "MIM:614370",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/614370",
                            "name": "Pulmonary surfactant metabolism dysfunction 5",
                            "description": "Pulmonary surfactant metabolism dysfunction 5"
                        },
                        {
                            "id": "MIM:265120",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/265120",
                            "name": "Pulmonary surfactant metabolism dysfunction 1",
                            "description": "Pulmonary surfactant metabolism dysfunction 1"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease",
                "ebi"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P15509",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P15509"
                }
            ],
            "glycoeffect": [
                "o-glyco-site-loss"
            ],
            "start_pos": 25,
            "end_pos": 25,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "S",
            "sequence_mut": "L",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs757087323.",
            "chr_id": "X",
            "chr_pos": "1282777",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "S25",
            "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": ""
                        }
                    ]
                },
                {
                    "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",
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
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                            "description": ""
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                        {
                            "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",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            "description": ""
                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        {
                            "id": "MONDO:0005575",
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                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
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                        {
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                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
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                        {
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                        {
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                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        {
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                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
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                            "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"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs149884748",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149884748"
                },
                {
                    "id": "rs149884748",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs149884748"
                },
                {
                    "id": "rs149884748",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs149884748"
                },
                {
                    "id": "rs149884748",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs149884748#frequency_tab"
                },
                {
                    "id": "rs149884748",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs149884748"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 323,
            "end_pos": 323,
            "sequence_org": "G",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLG->NLS).",
            "chr_id": "X",
            "chr_pos": "1303943",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "0.003179",
            "site_lbl": "G323",
            "disease": [
                {
                    "disease_id": "DOID:12120",
                    "recommended_name": {
                        "id": "DOID:12120",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:12120",
                        "name": "pulmonary alveolar proteinosis",
                        "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "surfactant metabolism dysfunction, pulmonary, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "SMDP2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "desquamative interstitial pneumonitis due to surfactant Protein C deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "interstitial lung disease due to surfactant Protein C deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "pulmonary alveolar proteinosis, congenital, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "surfactant metabolism dysfunction, pulmonary, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "Csf2Ra deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "Pap due to Csf2Ra deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "SMDP4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "pulmonary alveolar proteinosis, congenital, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ABCA3 deficiency",
                            "description": "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea."
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ABCA3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "SMDP3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "pulmonary alveolar proteinosis, congenital, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "surfactant metabolism dysfunction, pulmonary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, 5",
                            "description": "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene."
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "CSF2RB hereditary pulmonary alveolar proteinosis",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "Csf2Rb deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "Pap due to Csf2Rb deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "SMDP5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "pulmonary alveolar proteinosis 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "neonatal acute respiratory distress due to SP-B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "SMDP1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "interstitial lung disease due to surfactant Protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "neonatal acute respiratory distress due to surfactant protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "pulmonary alveolar proteinosis, congenital, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "surfactant metabolism dysfunction, pulmonary, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "pulmonary surfactant protein B, deficiency of",
                            "description": ""
                        },
                        {
                            "id": "MIM:610913",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/610913",
                            "name": "Pulmonary surfactant metabolism dysfunction 2",
                            "description": "Pulmonary surfactant metabolism dysfunction 2"
                        },
                        {
                            "id": "MIM:300770",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/300770",
                            "name": "Pulmonary surfactant metabolism dysfunction 4",
                            "description": "Pulmonary surfactant metabolism dysfunction 4"
                        },
                        {
                            "id": "MIM:610921",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/610921",
                            "name": "Pulmonary surfactant metabolism dysfunction 3",
                            "description": "Pulmonary surfactant metabolism dysfunction 3"
                        },
                        {
                            "id": "MIM:614370",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/614370",
                            "name": "Pulmonary surfactant metabolism dysfunction 5",
                            "description": "Pulmonary surfactant metabolism dysfunction 5"
                        },
                        {
                            "id": "MIM:265120",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/265120",
                            "name": "Pulmonary surfactant metabolism dysfunction 1",
                            "description": "Pulmonary surfactant metabolism dysfunction 1"
                        }
                    ]
                }
            ],
            "keywords": [
                "ebi",
                "germline",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P15509",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P15509"
                }
            ],
            "glycoeffect": [],
            "start_pos": 390,
            "end_pos": 390,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "R",
            "sequence_mut": "H",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "X",
            "chr_pos": "1309445",
            "ref_nt": "G",
            "alt_nt": "A",
            "minor_allelic_frequency": "",
            "site_lbl": "R390",
            "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"
                        }
                    ]
                },
                {
                    "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"
                        }
                    ]
                },
                {
                    "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": "rs2090584002",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2090584002"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 46,
            "end_pos": 46,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->SLS).",
            "chr_id": "X",
            "chr_pos": "1285838",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N46",
            "disease": [
                {
                    "disease_id": "DOID:12120",
                    "recommended_name": {
                        "id": "DOID:12120",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:12120",
                        "name": "pulmonary alveolar proteinosis",
                        "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "surfactant metabolism dysfunction, pulmonary, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "SMDP2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "desquamative interstitial pneumonitis due to surfactant Protein C deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "interstitial lung disease due to surfactant Protein C deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "pulmonary alveolar proteinosis, congenital, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "surfactant metabolism dysfunction, pulmonary, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "Csf2Ra deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "Pap due to Csf2Ra deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "SMDP4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "pulmonary alveolar proteinosis, congenital, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ABCA3 deficiency",
                            "description": "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea."
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ABCA3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "SMDP3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "pulmonary alveolar proteinosis, congenital, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "surfactant metabolism dysfunction, pulmonary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, 5",
                            "description": "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene."
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "CSF2RB hereditary pulmonary alveolar proteinosis",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "Csf2Rb deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "Pap due to Csf2Rb deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "SMDP5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "pulmonary alveolar proteinosis 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "neonatal acute respiratory distress due to SP-B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "SMDP1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "interstitial lung disease due to surfactant Protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "neonatal acute respiratory distress due to surfactant protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "pulmonary alveolar proteinosis, congenital, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "surfactant metabolism dysfunction, pulmonary, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "pulmonary surfactant protein B, deficiency of",
                            "description": ""
                        },
                        {
                            "id": "MIM:610913",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/610913",
                            "name": "Pulmonary surfactant metabolism dysfunction 2",
                            "description": "Pulmonary surfactant metabolism dysfunction 2"
                        },
                        {
                            "id": "MIM:300770",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/300770",
                            "name": "Pulmonary surfactant metabolism dysfunction 4",
                            "description": "Pulmonary surfactant metabolism dysfunction 4"
                        },
                        {
                            "id": "MIM:610921",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/610921",
                            "name": "Pulmonary surfactant metabolism dysfunction 3",
                            "description": "Pulmonary surfactant metabolism dysfunction 3"
                        },
                        {
                            "id": "MIM:614370",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/614370",
                            "name": "Pulmonary surfactant metabolism dysfunction 5",
                            "description": "Pulmonary surfactant metabolism dysfunction 5"
                        },
                        {
                            "id": "MIM:265120",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/265120",
                            "name": "Pulmonary surfactant metabolism dysfunction 1",
                            "description": "Pulmonary surfactant metabolism dysfunction 1"
                        }
                    ]
                }
            ],
            "keywords": [
                "ebi",
                "germline",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1437263714",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1437263714"
                },
                {
                    "id": "rs1437263714",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1437263714#frequency_tab"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 48,
            "end_pos": 48,
            "sequence_org": "S",
            "sequence_mut": "G",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLG).",
            "chr_id": "X",
            "chr_pos": "1285843",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S48",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs762604364",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762604364"
                },
                {
                    "id": "rs762604364",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762604364"
                },
                {
                    "id": "rs762604364",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs762604364"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 48,
            "end_pos": 48,
            "sequence_org": "S",
            "sequence_mut": "R",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLR).",
            "chr_id": "X",
            "chr_pos": "1285845",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S48",
            "disease": [
                {
                    "disease_id": "DOID:12120",
                    "recommended_name": {
                        "id": "DOID:12120",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:12120",
                        "name": "pulmonary alveolar proteinosis",
                        "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "surfactant metabolism dysfunction, pulmonary, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "SMDP2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "desquamative interstitial pneumonitis due to surfactant Protein C deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "interstitial lung disease due to surfactant Protein C deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "pulmonary alveolar proteinosis, congenital, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0024465",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0024465",
                            "name": "surfactant metabolism dysfunction, pulmonary, 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "Csf2Ra deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "Pap due to Csf2Ra deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "SMDP4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010424",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010424",
                            "name": "pulmonary alveolar proteinosis, congenital, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ABCA3 deficiency",
                            "description": "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea."
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ABCA3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "SMDP3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "pulmonary alveolar proteinosis, congenital, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012582",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012582",
                            "name": "surfactant metabolism dysfunction, pulmonary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, 5",
                            "description": "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene."
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "CSF2RB hereditary pulmonary alveolar proteinosis",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "Csf2Rb deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "Pap due to Csf2Rb deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "SMDP5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013712",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013712",
                            "name": "pulmonary alveolar proteinosis 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "neonatal acute respiratory distress due to SP-B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "SMDP1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "interstitial lung disease due to surfactant Protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "neonatal acute respiratory distress due to surfactant protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "pulmonary alveolar proteinosis, congenital, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "surfactant metabolism dysfunction, pulmonary, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "surfactant metabolism dysfunction, pulmonary, type 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "interstitial lung disease, nonspecific, due to surfactant Protein B deficiency",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0009929",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0009929",
                            "name": "pulmonary surfactant protein B, deficiency of",
                            "description": ""
                        },
                        {
                            "id": "MIM:610913",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/610913",
                            "name": "Pulmonary surfactant metabolism dysfunction 2",
                            "description": "Pulmonary surfactant metabolism dysfunction 2"
                        },
                        {
                            "id": "MIM:300770",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/300770",
                            "name": "Pulmonary surfactant metabolism dysfunction 4",
                            "description": "Pulmonary surfactant metabolism dysfunction 4"
                        },
                        {
                            "id": "MIM:610921",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/610921",
                            "name": "Pulmonary surfactant metabolism dysfunction 3",
                            "description": "Pulmonary surfactant metabolism dysfunction 3"
                        },
                        {
                            "id": "MIM:614370",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/614370",
                            "name": "Pulmonary surfactant metabolism dysfunction 5",
                            "description": "Pulmonary surfactant metabolism dysfunction 5"
                        },
                        {
                            "id": "MIM:265120",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/265120",
                            "name": "Pulmonary surfactant metabolism dysfunction 1",
                            "description": "Pulmonary surfactant metabolism dysfunction 1"
                        }
                    ]
                }
            ],
            "keywords": [
                "ebi",
                "germline",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1457285917",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1457285917"
                },
                {
                    "id": "rs1457285917",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1457285917"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss"
            ],
            "start_pos": 54,
            "end_pos": 54,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->STT).",
            "chr_id": "X",
            "chr_pos": "1285862",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N54",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1389681878",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1389681878"
                },
                {
                    "id": "rs1389681878",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs1389681878#frequency_tab"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-loss",
                "o-glyco-site-loss"
            ],
            "start_pos": 56,
            "end_pos": 56,
            "sequence_org": "T",
            "sequence_mut": "A",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTA).",
            "chr_id": "X",
            "chr_pos": "1285867",
            "ref_nt": "G",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T56",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "P15509",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P15509"
                }
            ],
            "glycoeffect": [
                "o-glyco-site-loss"
            ],
            "start_pos": 80,
            "end_pos": 80,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "S",
            "sequence_mut": "L",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "X",
            "chr_pos": "1288538",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "S80",
            "disease": [
                {
                    "disease_id": "DOID:9256",
                    "recommended_name": {
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                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:9256",
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                        "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                    },
                    "synonyms": [
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                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                        },
                        {
                            "id": "MONDO:0005575",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            "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"
                        }
                    ]
                },
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
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                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
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                        "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: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": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        }
    ],
    "mutagenesis": [],
    "expression_tissue": [
        {
            "tissue": {
                "name": "Adult mammalian kidney",
                "namespace": "UBERON",
                "id": "0000082",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000082"
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            "score": "62.52",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
                }
            ]
        },
        {
            "tissue": {
                "name": "Oral cavity",
                "namespace": "UBERON",
                "id": "0000167",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000167"
            },
            "score": "64.92",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
                }
            ]
        },
        {
            "tissue": {
                "name": "Stomach",
                "namespace": "UBERON",
                "id": "0000945",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000945"
            },
            "score": "65.85",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
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            ]
        },
        {
            "tissue": {
                "name": "Uterus",
                "namespace": "UBERON",
                "id": "0000995",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000995"
            },
            "score": "69.14",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
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            ]
        },
        {
            "tissue": {
                "name": "Esophagus",
                "namespace": "UBERON",
                "id": "0001043",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001043"
            },
            "score": "81.45",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
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            ]
        },
        {
            "tissue": {
                "name": "Rectum",
                "namespace": "UBERON",
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                "url": "http://purl.obolibrary.org/obo/UBERON_0001052"
            },
            "score": "82.3",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
                }
            ]
        },
        {
            "tissue": {
                "name": "Colon",
                "namespace": "UBERON",
                "id": "0001155",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001155"
            },
            "score": "53.29",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
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            ]
        },
        {
            "tissue": {
                "name": "Urinary bladder",
                "namespace": "UBERON",
                "id": "0001255",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001255"
            },
            "score": "67.81",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thyroid gland",
                "namespace": "UBERON",
                "id": "0002046",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002046"
            },
            "score": "69.41",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
                }
            ]
        },
        {
            "tissue": {
                "name": "Lung",
                "namespace": "UBERON",
                "id": "0002048",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002048"
            },
            "score": "51.86",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
                }
            ]
        },
        {
            "tissue": {
                "name": "Liver",
                "namespace": "UBERON",
                "id": "0002107",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002107"
            },
            "score": "69.39",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
                }
            ]
        },
        {
            "tissue": {
                "name": "Prostate gland",
                "namespace": "UBERON",
                "id": "0002367",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002367"
            },
            "score": "69.7",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thoracic mammary gland",
                "namespace": "UBERON",
                "id": "0005200",
                "url": "http://purl.obolibrary.org/obo/UBERON_0005200"
            },
            "score": "78.61",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000198223",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223"
                }
            ]
        }
    ],
    "expression_disease": [
        {
            "significant": "No",
            "trend": "down",
            "name": "Prostate cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10283",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P15509",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P15509"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:10283",
                    "recommended_name": {
                        "id": "DOID:10283",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10283",
                        "name": "prostate cancer",
                        "description": "A male reproductive organ cancer that is located_in the prostate."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "NGP - new growth of prostate",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "hereditary prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "malignant tumor of the prostate",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostatic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostatic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "tumor of the prostate",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, type 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "HPC9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, 12",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "EHBP1 familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "familial prostate cancer caused by mutation in EHBP1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, type 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "HPC12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "HPC5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, type 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, susceptibility to, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "HPC3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, type 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, susceptibility to, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "HPC4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, on chromosome 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, 13",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "MSMB familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "familial prostate cancer caused by mutation in MSMB",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, 13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, type 13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "HPC13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, type 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "HPC8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "predisposing for prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, type 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "HPC6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "prostate cancer, hereditary, 10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "HPC10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "prostate cancer, hereditary, 10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "familial prostate carcinoma",
                            "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "hereditary prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "hereditary prostate carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, hereditary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer, hereditary, 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "HPC7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer, hereditary, 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer aggressiveness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, 1",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "RNASEL familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "familial prostate cancer caused by mutation in RNASEL",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, type 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "HPC1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "Prca1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "prostate cancer, hereditary, 11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "HPC11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "prostate cancer, hereditary, 11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "prostate cancer, hereditary, 14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "HPC14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "prostate cancer, hereditary, 14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "prostate cancer, hereditary, 15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "HPC15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "prostate cancer, hereditary, 15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer, hereditary, X-linked 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "HPCX1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer, hereditary, X-linked 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer susceptibility, X-linked",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "prostate cancer, hereditary, X-linked 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "HPCX2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "prostate cancer, hereditary, X-linked 2",
                            "description": ""
                        },
                        {
                            "id": "MIM:611868",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611868",
                            "name": "Prostate cancer, hereditary, 12",
                            "description": "Prostate cancer, hereditary, 12"
                        },
                        {
                            "id": "MIM:611928",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611928",
                            "name": "Prostate cancer, hereditary, 13",
                            "description": "Prostate cancer, hereditary, 13"
                        },
                        {
                            "id": "MIM:176807",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/176807",
                            "name": "Prostate cancer",
                            "description": "Prostate cancer"
                        },
                        {
                            "id": "MIM:601518",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/601518",
                            "name": "Prostate cancer, hereditary, 1",
                            "description": "Prostate cancer, hereditary, 1"
                        },
                        {
                            "id": "MIM:611955",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611955",
                            "name": "Prostate cancer, hereditary, 11",
                            "description": "Prostate cancer, hereditary, 11"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Stomach cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10534",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P15509",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P15509"
                }
            ],
            "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": "P15509",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P15509"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:11054",
                    "recommended_name": {
                        "id": "DOID:11054",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:11054",
                        "name": "urinary bladder cancer",
                        "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the bladder."
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "tumour of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "bladder cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "cancer of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm, bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm, urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor, urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant tumour",
                            "description": ""
                        },
                        {
                            "id": "MIM:109800",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/109800",
                            "name": "Bladder cancer",
                            "description": "Bladder cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "down",
            "name": "Head and neck cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11934",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P15509",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P15509"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:11934",
                    "recommended_name": {
                        "id": "DOID:11934",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:11934",
                        "name": "head and neck cancer",
                        "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck tumours",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head/neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "tumor of head and neck",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Lung cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1324",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P15509",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P15509"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1324",
                    "recommended_name": {
                        "id": "DOID:1324",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1324",
                        "name": "lung cancer",
                        "description": "A respiratory system cancer that is located_in the lung."
                    },
                    "synonyms": [
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "LNCR1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012159",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012159",
                            "name": "lung cancer susceptibility 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "LNCR3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "lung cancer susceptibility 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012942",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012942",
                            "name": "adenocarcinoma of lung, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "LNCR4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012955",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012955",
                            "name": "lung cancer susceptibility 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "LNCR5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0013631",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0013631",
                            "name": "lung cancer susceptibility 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": "A malignant neoplasm involving the lung."
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "adenocarcinoma of lung, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "cancer of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant lung tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant neoplasm of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumor of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "malignant tumour of the lung",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "Nonsmall cell lung cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "alveolar cell carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung cancer, protection against",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0008903",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                            "name": "lung neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MIM:211980",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/211980",
                            "name": "Lung cancer",
                            "description": "Lung cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Breast cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1612",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P15509",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P15509"
                }
            ],
            "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": "up",
            "name": "Thyroid cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1781",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P15509",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P15509"
                }
            ],
            "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": "P15509",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P15509"
                }
            ],
            "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": "No",
            "trend": "up",
            "name": "Liver cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:3571",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P15509",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P15509"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:3571",
                    "recommended_name": {
                        "id": "DOID:3571",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:3571",
                        "name": "liver cancer",
                        "description": "A hepatobiliary system cancer that is located_in the liver."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "Ca liver - primary",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "Resectable malignant neoplasm of Liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "hepatic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "hepatic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant hepato-biliary neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver, primary",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant tumor of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "non-resectable primary hepatic malignant neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "primary liver cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "primary malignant neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "resectable malignant neoplasm of the liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver, not specified as primary or secondary",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "up",
            "name": "Uterine cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:363",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P15509",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P15509"
                }
            ],
            "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": "Yes",
            "trend": "up",
            "name": "Esophageal cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:5041",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "P15509",
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                            "description": ""
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                        {
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                        {
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        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
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                        {
                            "id": "MONDO:0005575",
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                        {
                            "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,
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                    "database": "UniProtKB",
                    "id": "P15509",
                    "url": "https://www.uniprot.org/uniprot/P15509"
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            ],
            "common_name": "Human"
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                "start_pos": 46136,
                "end_pos": 5001,
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                        "id": "LRG_186",
                        "url": "https://www.ensembl.org/id/LRG_186"
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                ]
            }
        }
    ],
    "crossref": [
        {
            "id": "ENSG00000198223",
            "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198223",
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            "categories": [
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        },
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            "id": "P15509",
            "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P15509",
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        },
        {
            "id": "CHEMBL2364169",
            "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2364169",
            "database": "ChEMBL",
            "categories": [
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            ]
        },
        {
            "id": "CSF2RA",
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            "database": "GeneCards",
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                "Gene Annotation"
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        {
            "id": "1438",
            "url": "https://www.ncbi.nlm.nih.gov/gene/1438",
            "database": "GeneID",
            "categories": [
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        },
        {
            "id": "2435",
            "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2435",
            "database": "HGNC",
            "categories": [
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        },
        {
            "id": "P15509",
            "url": "https://www.ebi.ac.uk/intact/interactors/id:P15509*",
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        },
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            "id": "IPR003532",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR003532",
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            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR003961",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR003961",
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            "categories": [
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        },
        {
            "id": "IPR013783",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783",
            "database": "InterPro",
            "categories": [
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        {
            "id": "IPR015321",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR015321",
            "database": "InterPro",
            "categories": [
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        },
        {
            "id": "IPR036116",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR036116",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "IPR040907",
            "url": "https://www.ebi.ac.uk/interpro/entry/IPR040907",
            "database": "InterPro",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "hsa:1438",
            "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1438",
            "database": "KEGG Pathway",
            "categories": [
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            ]
        },
        {
            "id": "300770",
            "url": "http://www.omim.org/entry/300770",
            "database": "MIM",
            "categories": [
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            ]
        },
        {
            "id": "306250",
            "url": "http://www.omim.org/entry/306250",
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            "categories": [
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            ]
        },
        {
            "id": "425000",
            "url": "http://www.omim.org/entry/425000",
            "database": "MIM",
            "categories": [
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            ]
        },
        {
            "id": "NX_P15509",
            "url": "https://www.nextprot.org/entry/NX_P15509",
            "database": "neXtProt",
            "categories": [
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                "Protein"
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        {
            "id": "DIQTEYV",
            "url": "https://omabrowser.org/oma/group/DIQTEYV/",
            "database": "OMA",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "5353959at2759",
            "url": "http://www.orthodb.org/?query=5353959at2759",
            "database": "OrthoDB",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PTHR23037",
            "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23037",
            "database": "PANTHER",
            "categories": [
                "Protein Classification"
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        },
        {
            "id": "4NKQ",
            "url": "https://www.rcsb.org/structure/4NKQ",
            "database": "PDB",
            "categories": [
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        },
        {
            "id": "4RS1",
            "url": "https://www.rcsb.org/structure/4RS1",
            "database": "PDB",
            "categories": [
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        },
        {
            "id": "PF09240",
            "url": "http://pfam.xfam.org/family/PF09240",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "PF18611",
            "url": "http://pfam.xfam.org/family/PF18611",
            "database": "Pfam",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "P15509",
            "url": "https://pharos.nih.gov/targets/P15509",
            "database": "PHAROS",
            "categories": [
                "Organism-specific"
            ]
        },
        {
            "id": "PR_P15509",
            "url": "http://purl.obolibrary.org/obo/PR_P15509",
            "database": "PRO",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "R-HSA-512988",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-512988",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "R-HSA-5673001",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "R-HSA-5683826",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "R-HSA-5688849",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5688849",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "R-HSA-5688890",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5688890",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "R-HSA-912526",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912526",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "NP_001155001",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155001",
            "database": "RefSeq",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A8Q3SIC6",
            "url": "https://www.uniprot.org/uniprot/A0A8Q3SIC6",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A8Q3SIC6-1",
            "url": "https://www.uniprot.org/uniprot/A0A8Q3SIC6-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "F2Z3C9",
            "url": "https://www.uniprot.org/uniprot/F2Z3C9",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "F2Z3C9-1",
            "url": "https://www.uniprot.org/uniprot/F2Z3C9-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "J3JS74",
            "url": "https://www.uniprot.org/uniprot/J3JS74",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "J3JS74-1",
            "url": "https://www.uniprot.org/uniprot/J3JS74-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "P15509",
            "url": "https://www.uniprot.org/uniprot/P15509",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "P15509-1",
            "url": "https://www.uniprot.org/uniprot/P15509-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "P15509-2",
            "url": "https://www.uniprot.org/uniprot/P15509-2",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "P15509-3",
            "url": "https://www.uniprot.org/uniprot/P15509-3",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "P15509-4",
            "url": "https://www.uniprot.org/uniprot/P15509-4",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "P15509-5",
            "url": "https://www.uniprot.org/uniprot/P15509-5",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "P15509-6",
            "url": "https://www.uniprot.org/uniprot/P15509-6",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "P15509-7",
            "url": "https://www.uniprot.org/uniprot/P15509-7",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "P15509-8",
            "url": "https://www.uniprot.org/uniprot/P15509-8",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "V9GYE9",
            "url": "https://www.uniprot.org/uniprot/V9GYE9",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "V9GYE9-1",
            "url": "https://www.uniprot.org/uniprot/V9GYE9-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        }
    ],
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        "sequence": "MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHEGVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHLDNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLLINVSGDLENRYNFPSSEPRAKHSVKIRAADVRILNWSSWSEAIEFGSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLFPPVPQIKDKLNDNHEVEDEIIWEEFTPEEGKGYREEVLTVKEIT",
        "length": 400,
        "header": "sp|P15509-1|CSF2R_HUMAN Isoform 1 of Granulocyte-macrophage colony-stimulating factor receptor subunit alpha  OS=Homo sapiens OX=9606 GN=CSF2RA PE=1 SV=1 CANONICAL=P15509-1"
    },
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        {
            "isoform_ac": "A0A8Q3SIC6-1",
            "url": "",
            "sequence": {
                "sequence": "MLLLVTSLLLCELPHPAFLLIPEKSGKYGNLAEPSPRPLFRCPASGDPSGYLGPSAFHL",
                "length": 59,
                "header": "tr|A0A8Q3SIC6-1|A0A8Q3SIC6_HUMAN Computationally mapped isoform of Colony stimulating factor 2 receptor subunit alpha  OS=Homo sapiens OX=9606 GN=CSF2RA PE=4 SV=1 CANONICAL=P15509-1"
            },
            "locus": {}
        },
        {
            "isoform_ac": "F2Z3C9-1",
            "url": "",
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                "sequence": "MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHEGVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHLDNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLLVLTTGTSALCTFMCS",
                "length": 285,
                "header": "tr|F2Z3C9-1|F2Z3C9_HUMAN Computationally mapped isoform of Colony stimulating factor 2 receptor subunit alpha  OS=Homo sapiens OX=9606 GN=CSF2RA PE=1 SV=1 CANONICAL=P15509-1"
            },
            "locus": {
                "chromosome": "X",
                "start_pos": 1303967,
                "end_pos": 1282704,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000486791.6",
                        "url": "https://www.ensembl.org/id/ENST00000486791.6"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000436825.1",
                        "url": "https://www.ensembl.org/id/ENSP00000436825.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "J3JS74-1",
            "url": "",
            "sequence": {
                "sequence": "MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHEGVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHLDNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWK",
                "length": 238,
                "header": "tr|J3JS74-1|J3JS74_HUMAN Computationally mapped isoform of Colony stimulating factor 2 receptor subunit alpha  OS=Homo sapiens OX=9606 GN=CSF2RA PE=1 SV=1 CANONICAL=P15509-1"
            },
            "locus": {
                "chromosome": "X",
                "start_pos": 1294395,
                "end_pos": 1282704,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000412290.6",
                        "url": "https://www.ensembl.org/id/ENST00000412290.6"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000410667.1",
                        "url": "https://www.ensembl.org/id/ENSP00000410667.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "P15509-1",
            "url": "",
            "sequence": {
                "sequence": "MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHEGVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHLDNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLLINVSGDLENRYNFPSSEPRAKHSVKIRAADVRILNWSSWSEAIEFGSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLFPPVPQIKDKLNDNHEVEDEIIWEEFTPEEGKGYREEVLTVKEIT",
                "length": 400,
                "header": "sp|P15509-1|CSF2R_HUMAN Isoform 1 of Granulocyte-macrophage colony-stimulating factor receptor subunit alpha  OS=Homo sapiens OX=9606 GN=CSF2RA PE=1 SV=1 CANONICAL=P15509-1"
            },
            "locus": {
                "chromosome": "X",
                "start_pos": 1309476,
                "end_pos": 1282704,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000381524.8",
                        "url": "https://www.ensembl.org/id/ENST00000381524.8"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000370935.3",
                        "url": "https://www.ensembl.org/id/ENSP00000370935.3"
                    }
                ]
            }
        },
        {
            "isoform_ac": "P15509-2",
            "url": "",
            "sequence": {
                "sequence": "MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKCFLTDKKNRVVEPRLSNNECSCTFREICLHEGVTFEVHVNTSQRGFQQKLLYPNSGREGTAAQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHLDNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQPRTYQKLSYLDFQYQLDVHRKNTQPGTENLLINVSGDLENRYNFPSSEPRAKHSVKIRAADVRILNWSSWSEAIEFGSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLFPPVPQIKDKLNDNHEVEDEMGPQRHHRCGWNLYPTPGPSPGSGSSPRLGSESSL",
                "length": 410,
                "header": "sp|P15509-2|CSF2R_HUMAN Isoform 2 of Granulocyte-macrophage colony-stimulating factor receptor subunit alpha  OS=Homo sapiens OX=9606 GN=CSF2RA PE=1 SV=1 CANONICAL=P15509-1"
            },
            "locus": {
                "chromosome": "X",
                "start_pos": 1305732,
                "end_pos": 1282704,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000381509.8",
                        "url": "https://www.ensembl.org/id/ENST00000381509.8"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000370920.3",
                        "url": "https://www.ensembl.org/id/ENSP00000370920.3"
                    }
                ]
            }
        },
        {
            "isoform_ac": "P15509-3",
            "url": "",
            "sequence": {
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                "header": "sp|P15509-4|CSF2R_HUMAN Isoform 4 of Granulocyte-macrophage colony-stimulating factor receptor subunit alpha  OS=Homo sapiens OX=9606 GN=CSF2RA PE=1 SV=1 CANONICAL=P15509-1"
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            "isoform_ac": "P15509-8",
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                "header": "tr|V9GYE9-1|CSF2R_HUMAN Computationally mapped isoform of Granulocyte-macrophage colony-stimulating factor receptor subunit alpha  OS=Homo sapiens OX=9606 GN=CSF2RA PE=1 SV=1 CANONICAL=P15509-1"
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            "start_aa": "Asn",
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        {
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        {
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        {
            "glytoucan_ac": "",
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            "site_category": "predicted",
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            "relation": "attached",
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            "start_aa": "Asn",
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        {
            "glytoucan_ac": "",
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            "relation": "attached",
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                    "id": "P15509",
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    "phosphorylation": [],
    "glycation": [],
    "keywords": [
        "glycoprotein",
        "glycoprotein_predicted",
        "glycoprotein_reported"
    ],
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        {
            "title": "The src homology domain 2-containing inositol phosphatase SHIP forms a ternary complex with Shc and Grb2 in antigen receptor-stimulated B lymphocytes.",
            "journal": "The Journal of biological chemistry",
            "date": "1999",
            "authors": "Harmer SL, DeFranco AL",
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                    "type": "PubMed",
                    "id": "10207047",
                    "url": "https://glygen.org/publication/PubMed/10207047"
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            ]
        },
        {
            "title": "Crystal structure of the trimeric alpha-helical coiled-coil and the three lectin domains of human lung surfactant protein D.",
            "journal": "Structure (London, England : 1993)",
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            "authors": "Hakansson K, Lim NK, Hoppe HJ, Reid KB",
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                {
                    "type": "PubMed",
                    "id": "10368295",
                    "url": "https://glygen.org/publication/PubMed/10368295"
                }
            ]
        },
        {
            "title": "Engagement of Gab1 and Gab2 in erythropoietin signaling.",
            "journal": "The Journal of biological chemistry",
            "date": "1999",
            "authors": "Wickrema A, Uddin S, Sharma A, Chen F, Alsayed Y, Ahmad S, Sawyer ST, Krystal G, Yi T, Nishada K, Hibi M, Hirano T, Platanias LC",
            "evidence": [
                {
                    "database": "Reactome",
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                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912526"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "10455108",
                    "url": "https://glygen.org/publication/PubMed/10455108"
                }
            ]
        },
        {
            "title": "Heterodimerization of the alpha and beta chains of the interleukin-3 (IL-3) receptor is necessary and sufficient for IL-3-induced mitogenesis.",
            "journal": "Blood",
            "date": "1999",
            "authors": "Orban PC, Levings MK, Schrader JW",
            "evidence": [
                {
                    "database": "Reactome",
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                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-512988"
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                {
                    "type": "PubMed",
                    "id": "10477686",
                    "url": "https://glygen.org/publication/PubMed/10477686"
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            ]
        },
        {
            "title": "Identification of a 14-3-3 binding sequence in the common beta chain of the granulocyte-macrophage colony-stimulating factor (GM-CSF), interleukin-3 (IL-3), and IL-5 receptors that is serine-phosphorylated by GM-CSF.",
            "journal": "Blood",
            "date": "1999",
            "authors": "Stomski FC, Dottore M, Winnall W, Guthridge MA, Woodcock J, Bagley CJ, Thomas DT, Andrews RK, Berndt MC, Lopez AF",
            "evidence": [
                {
                    "database": "Reactome",
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                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-512988"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "10477722",
                    "url": "https://glygen.org/publication/PubMed/10477722"
                }
            ]
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        {
            "title": "Cloning of gp-340, a putative opsonin receptor for lung surfactant protein D.",
            "journal": "Proceedings of the National Academy of Sciences of the United States of America",
            "date": "1999",
            "authors": "Holmskov U, Mollenhauer J, Madsen J, Vitved L, Gronlund J, Tornoe I, Kliem A, Reid KB, Poustka A, Skjodt K",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-5683826",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826"
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            "reference": [
                {
                    "type": "PubMed",
                    "id": "10485905",
                    "url": "https://glygen.org/publication/PubMed/10485905"
                }
            ]
        },
        {
            "title": "Characterization of human A(2B) adenosine receptors: radioligand binding, western blotting, and coupling to G(q) in human embryonic kidney 293 cells and HMC-1 mast cells.",
            "journal": "Molecular pharmacology",
            "date": "1999",
            "authors": "Linden J, Thai T, Figler H, Jin X, Robeva AS",
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                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826"
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            "reference": [
                {
                    "type": "PubMed",
                    "id": "10496952",
                    "url": "https://glygen.org/publication/PubMed/10496952"
                }
            ]
        },
        {
            "title": "Two co-existing mechanisms for nuclear import of MAP kinase: passive diffusion of a monomer and active transport of a dimer.",
            "journal": "The EMBO journal",
            "date": "1999",
            "authors": "Adachi M, Fukuda M, Nishida E",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-5673001",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5673001"
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            "reference": [
                {
                    "type": "PubMed",
                    "id": "10508167",
                    "url": "https://glygen.org/publication/PubMed/10508167"
                }
            ]
        },
        {
            "title": "Tyrosine phosphorylation of shc in response to B cell antigen receptor engagement depends on the SHIP inositol phosphatase.",
            "journal": "Journal of immunology (Baltimore, Md. : 1950)",
            "date": "1999",
            "authors": "Ingham RJ, Okada H, Dang-Lawson M, Dinglasan J, van Der Geer P, Kurosaki T, Gold MR",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-912526",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-912526"
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            "reference": [
                {
                    "type": "PubMed",
                    "id": "10570274",
                    "url": "https://glygen.org/publication/PubMed/10570274"
                }
            ]
        },
        {
            "title": "Napsin A, a member of the aspartic protease family, is abundantly expressed in normal lung and kidney tissue and is expressed in lung adenocarcinomas.",
            "journal": "FEBS letters",
            "date": "1999",
            "authors": "Chuman Y, Bergman A, Ueno T, Saito S, Sakaguchi K, Alaiya AA, Franzen B, Bergman T, Arnott D, Auer G, Appella E, Jornvall H, Linder S",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-5683826",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5683826"
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                {
                    "type": "PubMed",
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                    "url": "https://glygen.org/publication/PubMed/10580105"
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            ]
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