{
    "uniprot_canonical_ac": "O00472-1",
    "uniprot_ac": "O00472",
    "uniprot_id": "ELL2_HUMAN",
    "mass": {
        "chemical_mass": 72324.0,
        "monoisotopic_mass": 72324.0
    },
    "refseq": {
        "ac": "NP_036213",
        "name": "RNA polymerase II elongation factor ELL2",
        "summary": "",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036213"
    },
    "gene_names": [
        {
            "name": "ELL2",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/O00472",
            "id": "O00472"
        },
        {
            "name": "ELL2",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036213",
            "id": "NP_036213"
        },
        {
            "name": "MRCCAT1",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036213",
            "id": "NP_036213"
        }
    ],
    "protein_names": [
        {
            "name": "RNA polymerase II elongation factor ELL2",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "O00472"
        },
        {
            "name": "ELL-related RNA polymerase II, elongation factor; elongation factor, RNA polymerase II, 2; elongation factor RNA for polymerase II 2; metastatic renal cell carcinoma-associated transcript 1",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036213",
            "id": "NP_036213"
        },
        {
            "name": "RNA polymerase II elongation factor ELL2",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036213",
            "id": "NP_036213"
        }
    ],
    "function": [
        {
            "annotation": "Allosteric transcription stimulation by RNA polymerase II super elongation complex.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_036213",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036213"
                },
                {
                    "database": "PubMed",
                    "id": "34265249",
                    "url": "https://glygen.org/publication/PubMed/34265249"
                }
            ]
        },
        {
            "annotation": "Characterizing the Interaction between the HTLV-1 Transactivator Tax-1 with Transcription Elongation Factor ELL2 and Its Impact on Viral Transactivation. Publication Status: Online-Only",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_036213",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036213"
                },
                {
                    "database": "PubMed",
                    "id": "34948391",
                    "url": "https://glygen.org/publication/PubMed/34948391"
                }
            ]
        },
        {
            "annotation": "ELL2 addition regulates mRNA processing by enhancing poly(A) site choice and exon splice-site skipping",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_036213",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036213"
                },
                {
                    "database": "PubMed",
                    "id": "19749764",
                    "url": "https://glygen.org/publication/PubMed/19749764"
                }
            ]
        },
        {
            "annotation": "Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (PubMed:22195968). Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O00472",
                    "url": "https://www.uniprot.org/uniprot/O00472#function"
                },
                {
                    "database": "PubMed",
                    "id": "23251033",
                    "url": "https://glygen.org/publication/PubMed/23251033"
                },
                {
                    "database": "PubMed",
                    "id": "22195968",
                    "url": "https://glygen.org/publication/PubMed/22195968"
                },
                {
                    "database": "PubMed",
                    "id": "20159561",
                    "url": "https://glygen.org/publication/PubMed/20159561"
                },
                {
                    "database": "PubMed",
                    "id": "20471948",
                    "url": "https://glygen.org/publication/PubMed/20471948"
                }
            ]
        },
        {
            "annotation": "MRCCAT1 is upregulated in glioma, predicting poor outcome for patients. MRCCAT1 promotes glioma cell proliferation and migration by activating p38-MAPK signaling.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_036213",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036213"
                },
                {
                    "database": "PubMed",
                    "id": "30556882",
                    "url": "https://glygen.org/publication/PubMed/30556882"
                }
            ]
        }
    ],
    "disease": [],
    "snv": [
        {
            "evidence": [
                {
                    "id": "rs370001465",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370001465"
                },
                {
                    "id": "rs370001465",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs370001465"
                },
                {
                    "id": "rs370001465",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs370001465#frequency_tab"
                },
                {
                    "id": "rs370001465",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs370001465"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 197,
            "end_pos": 197,
            "sequence_org": "S",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).",
            "chr_id": "5",
            "chr_pos": "95906674",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "S197",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs138311898",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138311898"
                },
                {
                    "id": "rs138311898",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138311898"
                },
                {
                    "id": "rs138311898",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138311898"
                },
                {
                    "id": "rs138311898",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs138311898#frequency_tab"
                },
                {
                    "id": "rs138311898",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs138311898"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 293,
            "end_pos": 293,
            "sequence_org": "P",
            "sequence_mut": "L",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NLS).",
            "chr_id": "5",
            "chr_pos": "95900769",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "0.0002",
            "site_lbl": "P293",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs113894818",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113894818"
                },
                {
                    "id": "rs113894818",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs113894818"
                },
                {
                    "id": "rs113894818",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs113894818"
                },
                {
                    "id": "rs113894818",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs113894818#frequency_tab"
                },
                {
                    "id": "rs113894818",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs113894818"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 293,
            "end_pos": 293,
            "sequence_org": "P",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NTS).",
            "chr_id": "5",
            "chr_pos": "95900770",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "0.005791",
            "site_lbl": "P293",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs3815768",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3815768"
                },
                {
                    "id": "rs3815768",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs3815768"
                },
                {
                    "id": "rs3815768",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3815768"
                },
                {
                    "id": "rs3815768",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs3815768#frequency_tab"
                },
                {
                    "id": "rs3815768",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs3815768"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 298,
            "end_pos": 298,
            "sequence_org": "A",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAA->NAT).",
            "chr_id": "5",
            "chr_pos": "95900755",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "0.3417",
            "site_lbl": "A298",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O00472",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00472"
                }
            ],
            "glycoeffect": [],
            "start_pos": 336,
            "end_pos": 336,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "R",
            "sequence_mut": "Q",
            "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).",
            "chr_id": "5",
            "chr_pos": "95898758",
            "ref_nt": "C",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "R336",
            "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: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: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"
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1371839853",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371839853"
                },
                {
                    "id": "rs1371839853",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1371839853"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 82,
            "end_pos": 82,
            "sequence_org": "N",
            "sequence_mut": "S",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFN->NFS).",
            "chr_id": "5",
            "chr_pos": "95919496",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "N82",
            "keywords": [
                "ebi",
                "germline"
            ]
        }
    ],
    "mutagenesis": [],
    "expression_tissue": [
        {
            "tissue": {
                "name": "Adult mammalian kidney",
                "namespace": "UBERON",
                "id": "0000082",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000082"
            },
            "score": "85",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118985",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118985"
                }
            ]
        },
        {
            "tissue": {
                "name": "Oral cavity",
                "namespace": "UBERON",
                "id": "0000167",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000167"
            },
            "score": "97.21",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118985",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118985"
                }
            ]
        },
        {
            "tissue": {
                "name": "Stomach",
                "namespace": "UBERON",
                "id": "0000945",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000945"
            },
            "score": "97.2",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118985",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118985"
                }
            ]
        },
        {
            "tissue": {
                "name": "Esophagus",
                "namespace": "UBERON",
                "id": "0001043",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001043"
            },
            "score": "89.31",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118985",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118985"
                }
            ]
        },
        {
            "tissue": {
                "name": "Rectum",
                "namespace": "UBERON",
                "id": "0001052",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001052"
            },
            "score": "87.55",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118985",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118985"
                }
            ]
        },
        {
            "tissue": {
                "name": "Urinary bladder",
                "namespace": "UBERON",
                "id": "0001255",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001255"
            },
            "score": "87.05",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118985",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118985"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thyroid gland",
                "namespace": "UBERON",
                "id": "0002046",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002046"
            },
            "score": "90.47",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118985",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118985"
                }
            ]
        },
        {
            "tissue": {
                "name": "Liver",
                "namespace": "UBERON",
                "id": "0002107",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002107"
            },
            "score": "98.15",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118985",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118985"
                }
            ]
        },
        {
            "tissue": {
                "name": "Prostate gland",
                "namespace": "UBERON",
                "id": "0002367",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002367"
            },
            "score": "96.23",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118985",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118985"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thoracic mammary gland",
                "namespace": "UBERON",
                "id": "0005200",
                "url": "http://purl.obolibrary.org/obo/UBERON_0005200"
            },
            "score": "93.25",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000118985",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000118985"
                }
            ]
        }
    ],
    "expression_disease": [
        {
            "significant": "No",
            "trend": "up",
            "name": "Prostate cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10283",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O00472",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00472"
                }
            ],
            "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": "down",
            "name": "Stomach cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10534",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O00472",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00472"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:10534",
                    "recommended_name": {
                        "id": "DOID:10534",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10534",
                        "name": "stomach cancer",
                        "description": "A gastrointestinal system cancer that is located_in the stomach."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the stomach."
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca lesser curvature - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "cancer of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer risk after h. pylori infection",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant stomach neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "stomach cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca body - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "ca greater curvature of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, intestinal",
                            "description": ""
                        },
                        {
                            "id": "MIM:613659",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613659",
                            "name": "Gastric cancer",
                            "description": "Gastric cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Urinary bladder cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11054",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O00472",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00472"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:11054",
                    "recommended_name": {
                        "id": "DOID:11054",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:11054",
                        "name": "urinary bladder cancer",
                        "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the bladder."
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "tumour of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "bladder cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "cancer of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm, bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm, urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor, urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant tumour",
                            "description": ""
                        },
                        {
                            "id": "MIM:109800",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/109800",
                            "name": "Bladder cancer",
                            "description": "Bladder cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Head and neck cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11934",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O00472",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00472"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:11934",
                    "recommended_name": {
                        "id": "DOID:11934",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:11934",
                        "name": "head and neck cancer",
                        "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck tumours",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head/neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "tumor of head and neck",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "down",
            "name": "Lung cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1324",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O00472",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00472"
                }
            ],
            "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": "O00472",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00472"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1612",
                    "recommended_name": {
                        "id": "DOID:1612",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1612",
                        "name": "breast cancer",
                        "description": "A thoracic cancer that originates in the mammary gland."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "breast tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant neoplasm of breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant tumor of the breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "primary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, lobular, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of the breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial Male",
                            "description": ""
                        },
                        {
                            "id": "MIM:114480",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114480",
                            "name": "Breast cancer",
                            "description": "Breast cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Thyroid cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1781",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O00472",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00472"
                }
            ],
            "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": "O00472",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00472"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:263",
                    "recommended_name": {
                        "id": "DOID:263",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:263",
                        "name": "kidney cancer",
                        "description": "A urinary system cancer that is located_in the kidney."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "malignant neoplasm of kidney except pelvis",
                            "description": ""
                        },
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "malignant tumour of kidney",
                            "description": ""
                        },
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "renal cancer",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Liver cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:3571",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O00472",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00472"
                }
            ],
            "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": "down",
            "name": "Uterine cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:363",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O00472",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00472"
                }
            ],
            "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": "down",
            "name": "Esophageal cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:5041",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O00472",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00472"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:5041",
                    "recommended_name": {
                        "id": "DOID:5041",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:5041",
                        "name": "esophageal cancer",
                        "description": "A gastrointestinal system cancer that is located_in the esophagus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Distal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Proximal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of the middle Third of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal squamous cell carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant oesophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant oesophagus tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "oesophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca lower third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca middle third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of distal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of lower third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of middle third of esophagus",
                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of middle third of oesophagus",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of proximal third of oesophagus",
                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of upper third oesophagus",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                            "description": ""
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of distal third of esophagus",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of proximal third of esophagus",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                            "id": "MONDO:0007576",
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            "id": "A0A0U1RR08",
            "url": "https://www.uniprot.org/uniprot/A0A0U1RR08",
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            "categories": [
                "Protein"
            ]
        },
        {
            "id": "A0A0U1RR08-1",
            "url": "https://www.uniprot.org/uniprot/A0A0U1RR08-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "D6RC27",
            "url": "https://www.uniprot.org/uniprot/D6RC27",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "D6RC27-1",
            "url": "https://www.uniprot.org/uniprot/D6RC27-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "H0Y8G1",
            "url": "https://www.uniprot.org/uniprot/H0Y8G1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "H0Y8G1-1",
            "url": "https://www.uniprot.org/uniprot/H0Y8G1-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
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            "id": "O00472",
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            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O00472-1",
            "url": "https://www.uniprot.org/uniprot/O00472-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O00472-2",
            "url": "https://www.uniprot.org/uniprot/O00472-2",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        }
    ],
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        "sequence": "MAAGGTGGLREEQRYGLSCGRLGQDNITVLHVKLTETAIRALETYQSHKNLIPFRPSIQFQGLHGLVKIPKNDPLNEVHNFNFYLSNVGKDNPQGSFDCIQQTFSSSGASQLNCLGFIQDKITVCATNDSYQMTRERMTQAEEESRNRSTKVIKPGGPYVGKRVQIRKAPQAVSDTVPERKRSTPMNPANTIRKTHSSSTISQRPYRDRVIHLLALKAYKKPELLARLQKDGVNQKDKNSLGAILQQVANLNSKDLSYTLKDYVFKELQRDWPGYSEIDRRSLESVLSRKLNPSQNAAGTSRSESPVCSSRDAVSSPQKRLLDSEFIDPLMNKKARISHLTNRVPPTLNGHLNPTSEKSAAGLPLPPAAAAIPTPPPLPSTYLPISHPPQIVNSNSNSPSTPEGRGTQDLPVDSFSQNDSIYEDQQDKYTSRTSLETLPPGSVLLKCPKPMEENHSMSHKKSKKKSKKHKEKDQIKKHDIETIEEKEEDLKREEEIAKLNNSSPNSSGGVKEDCTASMEPSAIELPDYLIKYIAIVSYEQRQNYKDDFNAEYDEYRALHARMETVARRFIKLDAQRKRLSPGSKEYQNVHEEVLQEYQKIKQSSPNYHEEKYRCEYLHNKLAHIKRLIGEFDQQQAESWS",
        "length": 640,
        "header": "sp|O00472-1|ELL2_HUMAN Isoform 1 of RNA polymerase II elongation factor ELL2  OS=Homo sapiens OX=9606 GN=ELL2 PE=1 SV=2 CANONICAL=O00472-1"
    },
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        {
            "isoform_ac": "A0A0U1RR08-1",
            "url": "",
            "sequence": {
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                "length": 65,
                "header": "tr|A0A0U1RR08-1|ELL2_HUMAN Computationally mapped isoform of RNA polymerase II elongation factor ELL2  OS=Homo sapiens OX=9606 GN=ELL2 PE=1 SV=1 CANONICAL=O00472-1"
            },
            "locus": {
                "chromosome": "5",
                "start_pos": 95961674,
                "end_pos": 95932667,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000635633.1",
                        "url": "https://www.ensembl.org/id/ENST00000635633.1"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000489270.1",
                        "url": "https://www.ensembl.org/id/ENSP00000489270.1"
                    }
                ]
            }
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            "isoform_ac": "D6RC27-1",
            "url": "",
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                "sequence": "MAAGGTGGLREEQRYGLSCGRLGQDNITVLHVKLTETAIRALETYQSHKNLIPFRPSIQFQGLHGVANLNSKDLSYTLKDYVFKELQRDWPGYSEIDRRSLESVLSRKLNPSQNAAGTSRSESPVCSSRDAVSSPQKRLLDSEFIDPLMNK",
                "length": 151,
                "header": "tr|D6RC27-1|ELL2_HUMAN Computationally mapped isoform of RNA polymerase II elongation factor ELL2  OS=Homo sapiens OX=9606 GN=ELL2 PE=1 SV=1 CANONICAL=O00472-1"
            },
            "locus": {
                "chromosome": "5",
                "start_pos": 95961721,
                "end_pos": 95898766,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000513343.1",
                        "url": "https://www.ensembl.org/id/ENST00000513343.1"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000423915.1",
                        "url": "https://www.ensembl.org/id/ENSP00000423915.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "H0Y8G1-1",
            "url": "",
            "sequence": {
                "sequence": "XEEKEEDLKREEEIAKLNNSSPNSSGGVKEDCTASMEPSAIELPDYLIKYIAIVSYEQRQNYKDDFNAEYDEYRALHARMETVARRFIKLDAQRKRLSPGSKEYQVNGFVTRWADFHILPSFFPCPAQPQPSQWPLE",
                "length": 137,
                "header": "tr|H0Y8G1-1|ELL2_HUMAN Computationally mapped isoform of RNA polymerase II elongation factor ELL2  OS=Homo sapiens OX=9606 GN=ELL2 PE=1 SV=1 CANONICAL=O00472-1"
            },
            "locus": {
                "chromosome": "5",
                "start_pos": 95898317,
                "end_pos": 95891006,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000508757.1",
                        "url": "https://www.ensembl.org/id/ENST00000508757.1"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000420894.1",
                        "url": "https://www.ensembl.org/id/ENSP00000420894.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "O00472-1",
            "url": "",
            "sequence": {
                "sequence": "MAAGGTGGLREEQRYGLSCGRLGQDNITVLHVKLTETAIRALETYQSHKNLIPFRPSIQFQGLHGLVKIPKNDPLNEVHNFNFYLSNVGKDNPQGSFDCIQQTFSSSGASQLNCLGFIQDKITVCATNDSYQMTRERMTQAEEESRNRSTKVIKPGGPYVGKRVQIRKAPQAVSDTVPERKRSTPMNPANTIRKTHSSSTISQRPYRDRVIHLLALKAYKKPELLARLQKDGVNQKDKNSLGAILQQVANLNSKDLSYTLKDYVFKELQRDWPGYSEIDRRSLESVLSRKLNPSQNAAGTSRSESPVCSSRDAVSSPQKRLLDSEFIDPLMNKKARISHLTNRVPPTLNGHLNPTSEKSAAGLPLPPAAAAIPTPPPLPSTYLPISHPPQIVNSNSNSPSTPEGRGTQDLPVDSFSQNDSIYEDQQDKYTSRTSLETLPPGSVLLKCPKPMEENHSMSHKKSKKKSKKHKEKDQIKKHDIETIEEKEEDLKREEEIAKLNNSSPNSSGGVKEDCTASMEPSAIELPDYLIKYIAIVSYEQRQNYKDDFNAEYDEYRALHARMETVARRFIKLDAQRKRLSPGSKEYQNVHEEVLQEYQKIKQSSPNYHEEKYRCEYLHNKLAHIKRLIGEFDQQQAESWS",
                "length": 640,
                "header": "sp|O00472-1|ELL2_HUMAN Isoform 1 of RNA polymerase II elongation factor ELL2  OS=Homo sapiens OX=9606 GN=ELL2 PE=1 SV=2 CANONICAL=O00472-1"
            },
            "locus": {
                "chromosome": "5",
                "start_pos": 95961721,
                "end_pos": 95888874,
                "strand": "+",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000237853.9",
                        "url": "https://www.ensembl.org/id/ENST00000237853.9"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000237853.4",
                        "url": "https://www.ensembl.org/id/ENSP00000237853.4"
                    }
                ]
            }
        },
        {
            "isoform_ac": "O00472-2",
            "url": "",
            "sequence": {
                "sequence": "MAAGGTGGLREEQRYGLSCGRLGQDNITVLHVKLTETAIRALETYQSHKNLIPFRPSIQFQGLHGLVKIPKNDPLNEVHNFNFYLSNVGKDNPQGSFDCIQQTFSSSGASQLNCLGFIQDKITVCATNDSYQMTRERMTQIVNSNSNSPSTPEGRGTQDLPVDSFSQNDSIYEDQQDKYTSRTSLETLPPGSVLLKCPKPMEENHSMSHKKSKKKSKKHKEKDQIKKHDIETIEEKEEDLKREEEIAKLNNSSPNSSGGVKEDCTASMEPSAIELPDYLIKYIAIVSYEQRQNYKDDFNAEYDEYRALHARMETVARRFIKLDAQRKRLSPGSKEYQNVHEEVLQEYQKIKQSSPNYHEEKYRCEYLHNKLAHIKRLIGEFDQQQAESWS",
                "length": 390,
                "header": "sp|O00472-2|ELL2_HUMAN Isoform 2 of RNA polymerase II elongation factor ELL2  OS=Homo sapiens OX=9606 GN=ELL2 PE=1 SV=2 CANONICAL=O00472-1"
            },
            "locus": {}
        }
    ],
    "glycosylation": [
        {
            "glytoucan_ac": "G25637MV",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported_with_glycan",
            "site_seq": "N",
            "relation": "attached",
            "comment": "",
            "start_pos": 500,
            "start_aa": "Asn",
            "end_pos": 500,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn500",
            "evidence": [
                {
                    "id": "1720",
                    "database": "GlyConnect",
                    "url": "https://glyconnect.expasy.org/browser/proteins/1720"
                },
                {
                    "id": "29741879",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/29741879"
                }
            ]
        },
        {
            "glytoucan_ac": "G31916IQ",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported_with_glycan",
            "site_seq": "N",
            "relation": "attached",
            "comment": "",
            "start_pos": 500,
            "start_aa": "Asn",
            "end_pos": 500,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn500",
            "evidence": [
                {
                    "id": "1720",
                    "database": "GlyConnect",
                    "url": "https://glyconnect.expasy.org/browser/proteins/1720"
                },
                {
                    "id": "29741879",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/29741879"
                }
            ]
        },
        {
            "glytoucan_ac": "G74430RZ",
            "type": "N-linked",
            "subtype": "",
            "site_category": "reported_with_glycan",
            "site_seq": "N",
            "relation": "attached",
            "comment": "",
            "start_pos": 500,
            "start_aa": "Asn",
            "end_pos": 500,
            "end_aa": "Asn",
            "residue": "Asn",
            "site_lbl": "Asn500",
            "evidence": [
                {
                    "id": "1720",
                    "database": "GlyConnect",
                    "url": "https://glyconnect.expasy.org/browser/proteins/1720"
                },
                {
                    "id": "29741879",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/29741879"
                }
            ]
        }
    ],
    "phosphorylation": [
        {
            "start_pos": 305,
            "end_pos": 305,
            "kinase_uniprot_canonical_ac": "",
            "kinase_gene_name": "",
            "residue": "Ser",
            "comment": "",
            "evidence": [
                {
                    "database": "iPTMnet",
                    "id": "O00472",
                    "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00472"
                },
                {
                    "database": "PubMed",
                    "id": "20068231",
                    "url": "https://glygen.org/publication/PubMed/20068231"
                }
            ],
            "site_lbl": "Ser305"
        },
        {
            "start_pos": 310,
            "end_pos": 310,
            "kinase_uniprot_canonical_ac": "",
            "kinase_gene_name": "",
            "residue": "Ser",
            "comment": "",
            "evidence": [
                {
                    "database": "iPTMnet",
                    "id": "O00472",
                    "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00472"
                },
                {
                    "database": "PubMed",
                    "id": "18452278",
                    "url": "https://glygen.org/publication/PubMed/18452278"
                }
            ],
            "site_lbl": "Ser310"
        },
        {
            "start_pos": 315,
            "end_pos": 315,
            "kinase_uniprot_canonical_ac": "",
            "kinase_gene_name": "",
            "residue": "Ser",
            "comment": "",
            "evidence": [
                {
                    "database": "iPTMnet",
                    "id": "O00472",
                    "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00472"
                },
                {
                    "database": "PubMed",
                    "id": "18691976",
                    "url": "https://glygen.org/publication/PubMed/18691976"
                }
            ],
            "site_lbl": "Ser315"
        },
        {
            "start_pos": 316,
            "end_pos": 316,
            "kinase_uniprot_canonical_ac": "",
            "kinase_gene_name": "",
            "residue": "Ser",
            "comment": "",
            "evidence": [
                {
                    "database": "iPTMnet",
                    "id": "O00472",
                    "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00472"
                },
                {
                    "database": "PubMed",
                    "id": "20068231",
                    "url": "https://glygen.org/publication/PubMed/20068231"
                }
            ],
            "site_lbl": "Ser316"
        },
        {
            "start_pos": 502,
            "end_pos": 502,
            "kinase_uniprot_canonical_ac": "",
            "kinase_gene_name": "",
            "residue": "Ser",
            "comment": "",
            "evidence": [
                {
                    "database": "iPTMnet",
                    "id": "O00472",
                    "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00472"
                },
                {
                    "database": "PubMed",
                    "id": "18669648",
                    "url": "https://glygen.org/publication/PubMed/18669648"
                },
                {
                    "database": "PubMed",
                    "id": "20068231",
                    "url": "https://glygen.org/publication/PubMed/20068231"
                },
                {
                    "database": "phospho.ELM",
                    "id": "O00472",
                    "url": "http://phospho.elm.eu.org/byAccession/O00472.html"
                }
            ],
            "site_lbl": "Ser502"
        },
        {
            "start_pos": 503,
            "end_pos": 503,
            "kinase_uniprot_canonical_ac": "",
            "kinase_gene_name": "",
            "residue": "Ser",
            "comment": "Phosphoserine",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O00472",
                    "url": "https://www.uniprot.org/uniprot/O00472"
                },
                {
                    "database": "PubMed",
                    "id": "20068231",
                    "url": "https://glygen.org/publication/PubMed/20068231"
                },
                {
                    "database": "PubMed",
                    "id": "21406692",
                    "url": "https://glygen.org/publication/PubMed/21406692"
                },
                {
                    "database": "iPTMnet",
                    "id": "O00472",
                    "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00472"
                },
                {
                    "database": "PubMed",
                    "id": "18669648",
                    "url": "https://glygen.org/publication/PubMed/18669648"
                },
                {
                    "database": "PubMed",
                    "id": "18691976",
                    "url": "https://glygen.org/publication/PubMed/18691976"
                },
                {
                    "database": "PubMed",
                    "id": "19651622",
                    "url": "https://glygen.org/publication/PubMed/19651622"
                },
                {
                    "database": "phospho.ELM",
                    "id": "O00472",
                    "url": "http://phospho.elm.eu.org/byAccession/O00472.html"
                }
            ],
            "site_lbl": "Ser503"
        },
        {
            "start_pos": 506,
            "end_pos": 506,
            "kinase_uniprot_canonical_ac": "",
            "kinase_gene_name": "",
            "residue": "Ser",
            "comment": "",
            "evidence": [
                {
                    "database": "iPTMnet",
                    "id": "O00472",
                    "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00472"
                },
                {
                    "database": "PubMed",
                    "id": "18669648",
                    "url": "https://glygen.org/publication/PubMed/18669648"
                },
                {
                    "database": "phospho.ELM",
                    "id": "O00472",
                    "url": "http://phospho.elm.eu.org/byAccession/O00472.html"
                }
            ],
            "site_lbl": "Ser506"
        },
        {
            "start_pos": 580,
            "end_pos": 580,
            "kinase_uniprot_canonical_ac": "",
            "kinase_gene_name": "",
            "residue": "Ser",
            "comment": "Phosphoserine",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O00472",
                    "url": "https://www.uniprot.org/uniprot/O00472"
                },
                {
                    "database": "PubMed",
                    "id": "18691976",
                    "url": "https://glygen.org/publication/PubMed/18691976"
                },
                {
                    "database": "iPTMnet",
                    "id": "O00472",
                    "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00472"
                },
                {
                    "database": "PubMed",
                    "id": "20068231",
                    "url": "https://glygen.org/publication/PubMed/20068231"
                }
            ],
            "site_lbl": "Ser580"
        },
        {
            "start_pos": 604,
            "end_pos": 604,
            "kinase_uniprot_canonical_ac": "",
            "kinase_gene_name": "",
            "residue": "Ser",
            "comment": "",
            "evidence": [
                {
                    "database": "iPTMnet",
                    "id": "O00472",
                    "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00472"
                },
                {
                    "database": "PubMed",
                    "id": "18691976",
                    "url": "https://glygen.org/publication/PubMed/18691976"
                }
            ],
            "site_lbl": "Ser604"
        }
    ],
    "glycation": [],
    "keywords": [
        "glycoprotein",
        "glycoprotein_reported_with_glycan"
    ],
    "publication": [
        {
            "title": "The general transcription factors IIA, IIB, IIF, and IIE are required for RNA polymerase II transcription from the human U1 small nuclear RNA promoter.",
            "journal": "Molecular and cellular biology",
            "date": "1999",
            "authors": "Kuhlman TC, Cho H, Reinberg D, Hernandez N",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-6807505",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807505"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "10022900",
                    "url": "https://glygen.org/publication/PubMed/10022900"
                }
            ]
        },
        {
            "title": "EAF1, a novel ELL-associated factor that is delocalized by expression of the MLL-ELL fusion protein.",
            "journal": "Blood",
            "date": "2001",
            "authors": "Simone F, Polak PE, Kaberlein JJ, Luo RT, Levitan DA, Thirman MJ",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O00472",
                    "url": "https://www.uniprot.org/uniprot/O00472"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11418481",
                    "url": "https://glygen.org/publication/PubMed/11418481"
                }
            ]
        },
        {
            "title": "Crystallization of the Oct-1/SNAP190 peptide/DNA complex.",
            "journal": "Acta crystallographica. Section D, Biological crystallography",
            "date": "2002",
            "authors": "Hovde S, Brooks A, Strong K, Geiger JH",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-6807505",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807505"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11856838",
                    "url": "https://glygen.org/publication/PubMed/11856838"
                }
            ]
        },
        {
            "title": "Activator recruitment by the general transcription machinery: X-ray structural analysis of the Oct-1 POU domain/human U1 octamer/SNAP190 peptide ternary complex.",
            "journal": "Genes &amp; development",
            "date": "2002",
            "authors": "Hovde S, Hinkley CS, Strong K, Brooks A, Gu L, Henry RW, Geiger J",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-6807505",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807505"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "12414730",
                    "url": "https://glygen.org/publication/PubMed/12414730"
                }
            ]
        },
        {
            "title": "ELL-associated factor 2 (EAF2), a functional homolog of EAF1 with alternative ELL binding properties.",
            "journal": "Blood",
            "date": "2003",
            "authors": "Simone Federico, Luo Roger T, Polak Paul E, Kaberlein Joseph J, Thirman Michael J",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O00472",
                    "url": "https://www.uniprot.org/uniprot/O00472"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "12446457",
                    "url": "https://glygen.org/publication/PubMed/12446457"
                }
            ]
        },
        {
            "title": "The C-terminal domain of pol II and a DRB-sensitive kinase are required for 3' processing of U2 snRNA.",
            "journal": "The EMBO journal",
            "date": "2003",
            "authors": "Medlin JE, Uguen P, Taylor A, Bentley DL, Murphy S",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-6807505",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807505"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "12574128",
                    "url": "https://glygen.org/publication/PubMed/12574128"
                }
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