{
    "uniprot_canonical_ac": "O15315-3",
    "uniprot_ac": "O15315",
    "uniprot_id": "RA51B_HUMAN",
    "mass": {
        "chemical_mass": 42196.0,
        "monoisotopic_mass": 42196.0
    },
    "refseq": {
        "ac": "NP_001308746",
        "name": "DNA repair protein RAD51 homolog 2 isoform 10",
        "summary": "The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016].",
        "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308746"
    },
    "gene_names": [
        {
            "name": "RAD51B",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "https://www.uniprot.org/uniprot/O15315",
            "id": "O15315"
        },
        {
            "name": "R51H2; RAD51L1; REC2",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308746",
            "id": "NP_001308746"
        },
        {
            "name": "RAD51B",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308746",
            "id": "NP_001308746"
        },
        {
            "name": "RAD51L1",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/O15315",
            "id": "O15315"
        },
        {
            "name": "REC2",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "https://www.uniprot.org/uniprot/O15315",
            "id": "O15315"
        }
    ],
    "protein_names": [
        {
            "name": "DNA repair protein RAD51 homolog 2",
            "resource": "UniProtKB",
            "type": "recommended",
            "url": "",
            "id": "O15315"
        },
        {
            "name": "DNA repair protein RAD51 homolog 2 isoform 10",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308746",
            "id": "NP_001308746"
        },
        {
            "name": "R51H2",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "O15315"
        },
        {
            "name": "RAD51 homolog B",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "O15315"
        },
        {
            "name": "RAD51-like protein 1",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "O15315"
        },
        {
            "name": "Rad51B",
            "resource": "UniProtKB",
            "type": "synonym",
            "url": "",
            "id": "O15315"
        },
        {
            "name": "RecA-like protein; recombination repair protein; DNA repair protein RAD51 homolog 2; RAD51 homolog B",
            "resource": "RefSeq",
            "type": "synonym",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308746",
            "id": "NP_001308746"
        }
    ],
    "function": [
        {
            "annotation": "A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001308746",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308746"
                },
                {
                    "database": "PubMed",
                    "id": "19330030",
                    "url": "https://glygen.org/publication/PubMed/19330030"
                }
            ]
        },
        {
            "annotation": "BCR/ABL fragments were used for identifying the sites of BCR/ABL interaction with RAD51B",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001308746",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308746"
                },
                {
                    "database": "PubMed",
                    "id": "19657362",
                    "url": "https://glygen.org/publication/PubMed/19657362"
                }
            ]
        },
        {
            "annotation": "Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O15315",
                    "url": "https://www.uniprot.org/uniprot/O15315#function"
                },
                {
                    "database": "PubMed",
                    "id": "11842113",
                    "url": "https://glygen.org/publication/PubMed/11842113"
                },
                {
                    "database": "PubMed",
                    "id": "11751636",
                    "url": "https://glygen.org/publication/PubMed/11751636"
                },
                {
                    "database": "PubMed",
                    "id": "23108668",
                    "url": "https://glygen.org/publication/PubMed/23108668"
                },
                {
                    "database": "PubMed",
                    "id": "11751635",
                    "url": "https://glygen.org/publication/PubMed/11751635"
                },
                {
                    "database": "PubMed",
                    "id": "12441335",
                    "url": "https://glygen.org/publication/PubMed/12441335"
                },
                {
                    "database": "PubMed",
                    "id": "23149936",
                    "url": "https://glygen.org/publication/PubMed/23149936"
                }
            ]
        },
        {
            "annotation": "Rad51B and Rad51C function through interactions with the human Rad51 recombinase and play a crucial role in the homologous recombinational repair pathway",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001308746",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308746"
                },
                {
                    "database": "PubMed",
                    "id": "12427746",
                    "url": "https://glygen.org/publication/PubMed/12427746"
                }
            ]
        },
        {
            "annotation": "Structural insights into BCDX2 complex function in homologous recombination.",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001308746",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308746"
                },
                {
                    "database": "PubMed",
                    "id": "37344589",
                    "url": "https://glygen.org/publication/PubMed/37344589"
                }
            ]
        },
        {
            "annotation": "The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016].",
            "evidence": [
                {
                    "database": "RefSeq",
                    "id": "NP_001308746",
                    "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308746"
                }
            ]
        }
    ],
    "disease": [
        {
            "disease_id": "DOID:13223",
            "recommended_name": {
                "id": "DOID:13223",
                "resource": "Disease Ontology",
                "url": "http://disease-ontology.org/term/DOID:13223",
                "name": "uterine fibroid",
                "description": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus."
            },
            "synonyms": [
                {
                    "id": "DOID:13223",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:13223",
                    "name": "Plexiform leiomyoma",
                    "description": ""
                },
                {
                    "id": "DOID:13223",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:13223",
                    "name": "UTERUS FIBROMA",
                    "description": ""
                },
                {
                    "id": "DOID:13223",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:13223",
                    "name": "leiomyoma of Corpus Uteri",
                    "description": ""
                },
                {
                    "id": "DOID:13223",
                    "resource": "Disease Ontology",
                    "url": "http://disease-ontology.org/term/DOID:13223",
                    "name": "uterine leiomyoma",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "uterine corpus leiomyoma",
                    "description": "A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "body of uterus fibroid",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "body of uterus leiomyoma",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "corpus uteri fibroid",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "corpus uteri leiomyoma",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "fibroid of body of uterus",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "fibroid of corpus uteri",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "fibroid of the body of uterus",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "fibroid of the corpus uteri",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "fibroid of the uterine body",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "fibroid of the uterine corpus",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "fibroid of uterine body",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "fibroid of uterine corpus",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "leiomyoma of body of uterus",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "leiomyoma of corpus uteri",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "leiomyoma of the body of uterus",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "leiomyoma of the corpus uteri",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "leiomyoma of the uterine body",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "leiomyoma of the uterine corpus",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "leiomyoma of uterine body",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "leiomyoma of uterine corpus",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "plexiform leiomyoma",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "uterine body fibroid",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "uterine body leiomyoma",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "uterine corpus fibroid",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "uterine corpus leiomyoma",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "uterine corpus leiomyomata",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "uterine fibroid",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "UL",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "leiomyoma, uterine",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "uterine leiomyoma",
                    "description": ""
                },
                {
                    "id": "MONDO:0007886",
                    "resource": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0007886",
                    "name": "uterus fibroma",
                    "description": ""
                }
            ],
            "evidence": [
                {
                    "id": "150699",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/150699"
                }
            ]
        }
    ],
    "snv": [
        {
            "evidence": [
                {
                    "id": "rs918511717",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs918511717"
                },
                {
                    "id": "rs918511717",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs918511717#frequency_tab"
                },
                {
                    "id": "rs918511717",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs918511717"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 24,
            "end_pos": 24,
            "sequence_org": "I",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ILT->NLT).",
            "chr_id": "14",
            "chr_pos": "67823614",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "I24",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1308844497",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1308844497"
                },
                {
                    "id": "rs1308844497",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1308844497"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 259,
            "end_pos": 259,
            "sequence_org": "I",
            "sequence_mut": "T",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQI->NQT).",
            "chr_id": "14",
            "chr_pos": "68291903",
            "ref_nt": "C",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "I259",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "O15315",
                    "database": "BioMuta",
                    "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15315"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 40,
            "end_pos": 40,
            "subjects_tested": "0",
            "subjects_positive": "0",
            "frequency": "0.0",
            "sequence_org": "K",
            "sequence_mut": "N",
            "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KVT->NVT).",
            "chr_id": "14",
            "chr_pos": "67825499",
            "ref_nt": "G",
            "alt_nt": "T",
            "minor_allelic_frequency": "",
            "site_lbl": "K40",
            "disease": [
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "uterine cancer",
                        "description": "A female reproductive organ cancer that is located_in the uterus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "CA - cancer of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "Tumour of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterus neoplasm",
                            "description": ""
                        }
                    ]
                }
            ],
            "keywords": [
                "biomuta",
                "somatic",
                "cancer",
                "disease"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs577027561",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577027561"
                },
                {
                    "id": "rs577027561",
                    "database": "1000Genomes",
                    "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs577027561"
                },
                {
                    "id": "rs577027561",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs577027561"
                },
                {
                    "id": "rs577027561",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs577027561#frequency_tab"
                },
                {
                    "id": "rs577027561",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs577027561"
                }
            ],
            "glycoeffect": [
                "o-glyco-site-loss"
            ],
            "start_pos": 66,
            "end_pos": 66,
            "sequence_org": "T",
            "sequence_mut": "M",
            "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).",
            "chr_id": "14",
            "chr_pos": "67825576",
            "ref_nt": "T",
            "alt_nt": "null",
            "minor_allelic_frequency": "0.0002",
            "site_lbl": "T66",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs767643278",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767643278"
                },
                {
                    "id": "rs767643278",
                    "database": "ExAC",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767643278"
                },
                {
                    "id": "rs767643278",
                    "database": "TOPMed",
                    "url": "https://www.ncbi.nlm.nih.gov/snp/rs767643278#frequency_tab"
                },
                {
                    "id": "rs767643278",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs767643278"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain"
            ],
            "start_pos": 77,
            "end_pos": 77,
            "sequence_org": "D",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFS->NFS).",
            "chr_id": "14",
            "chr_pos": "67835110",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "D77",
            "keywords": [
                "ebi",
                "germline"
            ]
        },
        {
            "evidence": [
                {
                    "id": "rs1452464503",
                    "database": "dbSNP",
                    "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1452464503"
                },
                {
                    "id": "rs1452464503",
                    "database": "gnomAD",
                    "url": "http://gnomad.broadinstitute.org/awesome?query=rs1452464503"
                }
            ],
            "glycoeffect": [
                "n-glyco-sequon-gain",
                "o-glyco-site-loss"
            ],
            "start_pos": 86,
            "end_pos": 86,
            "sequence_org": "T",
            "sequence_mut": "N",
            "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLS->NLS).",
            "chr_id": "14",
            "chr_pos": "67835138",
            "ref_nt": "A",
            "alt_nt": "null",
            "minor_allelic_frequency": "",
            "site_lbl": "T86",
            "keywords": [
                "ebi",
                "germline"
            ]
        }
    ],
    "mutagenesis": [
        {
            "start_pos": 326,
            "end_pos": 326,
            "sequence_org": "P",
            "sequence_mut": "L",
            "comment": "Abolishes interaction with BCR-ABLSH3 domain.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O15315",
                    "url": "https://www.uniprot.org/uniprot/O15315"
                },
                {
                    "database": "PubMed",
                    "id": "19657362",
                    "url": "https://glygen.org/publication/PubMed/19657362"
                }
            ]
        }
    ],
    "expression_tissue": [
        {
            "tissue": {
                "name": "Adult mammalian kidney",
                "namespace": "UBERON",
                "id": "0000082",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000082"
            },
            "score": "66.09",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        },
        {
            "tissue": {
                "name": "Oral cavity",
                "namespace": "UBERON",
                "id": "0000167",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000167"
            },
            "score": "59.27",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        },
        {
            "tissue": {
                "name": "Stomach",
                "namespace": "UBERON",
                "id": "0000945",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000945"
            },
            "score": "70.71",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        },
        {
            "tissue": {
                "name": "Uterus",
                "namespace": "UBERON",
                "id": "0000995",
                "url": "http://purl.obolibrary.org/obo/UBERON_0000995"
            },
            "score": "49.96",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        },
        {
            "tissue": {
                "name": "Esophagus",
                "namespace": "UBERON",
                "id": "0001043",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001043"
            },
            "score": "76.14",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        },
        {
            "tissue": {
                "name": "Rectum",
                "namespace": "UBERON",
                "id": "0001052",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001052"
            },
            "score": "78.92",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        },
        {
            "tissue": {
                "name": "Colon",
                "namespace": "UBERON",
                "id": "0001155",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001155"
            },
            "score": "47.76",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        },
        {
            "tissue": {
                "name": "Urinary bladder",
                "namespace": "UBERON",
                "id": "0001255",
                "url": "http://purl.obolibrary.org/obo/UBERON_0001255"
            },
            "score": "70.26",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thyroid gland",
                "namespace": "UBERON",
                "id": "0002046",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002046"
            },
            "score": "73.06",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        },
        {
            "tissue": {
                "name": "Lung",
                "namespace": "UBERON",
                "id": "0002048",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002048"
            },
            "score": "47.6",
            "present": "LOW",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        },
        {
            "tissue": {
                "name": "Liver",
                "namespace": "UBERON",
                "id": "0002107",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002107"
            },
            "score": "73.33",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        },
        {
            "tissue": {
                "name": "Prostate gland",
                "namespace": "UBERON",
                "id": "0002367",
                "url": "http://purl.obolibrary.org/obo/UBERON_0002367"
            },
            "score": "76.67",
            "present": "MEDIUM",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        },
        {
            "tissue": {
                "name": "Thoracic mammary gland",
                "namespace": "UBERON",
                "id": "0005200",
                "url": "http://purl.obolibrary.org/obo/UBERON_0005200"
            },
            "score": "81.99",
            "present": "HIGH",
            "evidence": [
                {
                    "database": "Bgee",
                    "id": "ENSG00000182185",
                    "url": "https://bgee.org/?page=gene&gene_id=ENSG00000182185"
                }
            ]
        }
    ],
    "expression_disease": [
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Prostate cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10283",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O15315",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15315"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:10283",
                    "recommended_name": {
                        "id": "DOID:10283",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10283",
                        "name": "prostate cancer",
                        "description": "A male reproductive organ cancer that is located_in the prostate."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "NGP - new growth of prostate",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "hereditary prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "malignant tumor of the prostate",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostate neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostatic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "prostatic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:10283",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10283",
                            "name": "tumor of the prostate",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "prostate cancer, hereditary, type 9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012597",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                            "name": "HPC9",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, 12",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "EHBP1 familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "familial prostate cancer caused by mutation in EHBP1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "prostate cancer, hereditary, type 12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012741",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012741",
                            "name": "HPC12",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "prostate cancer, hereditary, type 5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012244",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012244",
                            "name": "HPC5",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, hereditary, type 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "prostate cancer, susceptibility to, 3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012093",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012093",
                            "name": "HPC3",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, type 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, susceptibility to, 4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "HPC4",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012094",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012094",
                            "name": "prostate cancer, hereditary, on chromosome 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, 13",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "MSMB familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "familial prostate cancer caused by mutation in MSMB",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, 13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "prostate cancer, hereditary, type 13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012758",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                            "name": "HPC13",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, hereditary, type 8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "HPC8",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "predisposing for prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011270",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011270",
                            "name": "prostate cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, hereditary, type 6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "HPC6",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012300",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012300",
                            "name": "prostate cancer, susceptibility to",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "prostate cancer, hereditary, 10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "HPC10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012620",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                            "name": "prostate cancer, hereditary, 10",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "familial prostate carcinoma",
                            "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "hereditary prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "hereditary prostate carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0023122",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0023122",
                            "name": "prostate cancer, hereditary",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer, hereditary, 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "HPC7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer, hereditary, 7",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012470",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                            "name": "prostate cancer aggressiveness",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, 1",
                            "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "RNASEL familial prostate cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "familial prostate cancer caused by mutation in RNASEL",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "prostate cancer, hereditary, type 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "HPC1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0011098",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0011098",
                            "name": "Prca1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "prostate cancer, hereditary, 11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "HPC11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012768",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                            "name": "prostate cancer, hereditary, 11",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "prostate cancer, hereditary, 14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "HPC14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012769",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                            "name": "prostate cancer, hereditary, 14",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "prostate cancer, hereditary, 15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "HPC15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0012770",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                            "name": "prostate cancer, hereditary, 15",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer, hereditary, X-linked 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "HPCX1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer, hereditary, X-linked 1",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010257",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010257",
                            "name": "prostate cancer susceptibility, X-linked",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "prostate cancer, hereditary, X-linked 2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "HPCX2",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0010405",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0010405",
                            "name": "prostate cancer, hereditary, X-linked 2",
                            "description": ""
                        },
                        {
                            "id": "MIM:611868",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611868",
                            "name": "Prostate cancer, hereditary, 12",
                            "description": "Prostate cancer, hereditary, 12"
                        },
                        {
                            "id": "MIM:611928",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611928",
                            "name": "Prostate cancer, hereditary, 13",
                            "description": "Prostate cancer, hereditary, 13"
                        },
                        {
                            "id": "MIM:176807",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/176807",
                            "name": "Prostate cancer",
                            "description": "Prostate cancer"
                        },
                        {
                            "id": "MIM:601518",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/601518",
                            "name": "Prostate cancer, hereditary, 1",
                            "description": "Prostate cancer, hereditary, 1"
                        },
                        {
                            "id": "MIM:611955",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/611955",
                            "name": "Prostate cancer, hereditary, 11",
                            "description": "Prostate cancer, hereditary, 11"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "up",
            "name": "Stomach cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:10534",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O15315",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15315"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:10534",
                    "recommended_name": {
                        "id": "DOID:10534",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:10534",
                        "name": "stomach cancer",
                        "description": "A gastrointestinal system cancer that is located_in the stomach."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:10534",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:10534",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the stomach."
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca lesser curvature - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "cancer of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer risk after h. pylori infection",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant gastric tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant stomach neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumor of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of greater curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of lesser curve of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant tumour of the stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "stomach cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "Ca body - stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "ca greater curvature of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "malignant neoplasm of body of stomach",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001056",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001056",
                            "name": "gastric cancer, intestinal",
                            "description": ""
                        },
                        {
                            "id": "MIM:613659",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/613659",
                            "name": "Gastric cancer",
                            "description": "Gastric cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "up",
            "name": "Urinary bladder cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11054",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O15315",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15315"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:11054",
                    "recommended_name": {
                        "id": "DOID:11054",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:11054",
                        "name": "urinary bladder cancer",
                        "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:11054",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11054",
                            "name": "tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the bladder."
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "tumour of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "bladder cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "cancer of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant bladder tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm, bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant neoplasm, urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumor, urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of the bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of the urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant tumour of urinary bladder",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "malignant urinary bladder tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0001187",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0001187",
                            "name": "urinary bladder malignant tumour",
                            "description": ""
                        },
                        {
                            "id": "MIM:109800",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/109800",
                            "name": "Bladder cancer",
                            "description": "Bladder cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "No",
            "trend": "up",
            "name": "Head and neck cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:11934",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O15315",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15315"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:11934",
                    "recommended_name": {
                        "id": "DOID:11934",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:11934",
                        "name": "head and neck cancer",
                        "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head and neck tumours",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "head/neck neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:11934",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:11934",
                            "name": "tumor of head and neck",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Lung cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1324",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O15315",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15315"
                }
            ],
            "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": "O15315",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15315"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1612",
                    "recommended_name": {
                        "id": "DOID:1612",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1612",
                        "name": "breast cancer",
                        "description": "A thoracic cancer that originates in the mammary gland."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "breast tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant neoplasm of breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "malignant tumor of the breast",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "mammary tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1612",
                            "name": "primary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, lobular, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "familial cancer of the breast",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "hereditary breast carcinoma",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0016419",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                            "name": "breast cancer, familial Male",
                            "description": ""
                        },
                        {
                            "id": "MIM:114480",
                            "resource": "MIM",
                            "url": "https://www.omim.org/entry/114480",
                            "name": "Breast cancer",
                            "description": "Breast cancer"
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Thyroid cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:1781",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O15315",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15315"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:1781",
                    "recommended_name": {
                        "id": "DOID:1781",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:1781",
                        "name": "thyroid cancer",
                        "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid gland cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "Thyroid gland neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "malignant neoplasm of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "malignant tumour of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "neoplasm of thyroid gland",
                            "description": ""
                        },
                        {
                            "id": "DOID:1781",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:1781",
                            "name": "thyroid neoplasm",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Kidney cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:263",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O15315",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15315"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:263",
                    "recommended_name": {
                        "id": "DOID:263",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:263",
                        "name": "kidney cancer",
                        "description": "A urinary system cancer that is located_in the kidney."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "malignant neoplasm of kidney except pelvis",
                            "description": ""
                        },
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "malignant tumour of kidney",
                            "description": ""
                        },
                        {
                            "id": "DOID:263",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:263",
                            "name": "renal cancer",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Liver cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:3571",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O15315",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15315"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:3571",
                    "recommended_name": {
                        "id": "DOID:3571",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:3571",
                        "name": "liver cancer",
                        "description": "A hepatobiliary system cancer that is located_in the liver."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "Ca liver - primary",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "Resectable malignant neoplasm of Liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "hepatic cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "hepatic neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant hepato-biliary neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver, primary",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant tumor of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "non-resectable primary hepatic malignant neoplasm",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "primary liver cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "primary malignant neoplasm of liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "resectable malignant neoplasm of the liver",
                            "description": ""
                        },
                        {
                            "id": "DOID:3571",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:3571",
                            "name": "malignant neoplasm of liver, not specified as primary or secondary",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "down",
            "name": "Uterine cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:363",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O15315",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15315"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:363",
                    "recommended_name": {
                        "id": "DOID:363",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:363",
                        "name": "uterine cancer",
                        "description": "A female reproductive organ cancer that is located_in the uterus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "CA - cancer of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "Tumour of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "malignant uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "neoplasm of uterus",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterine tumor",
                            "description": ""
                        },
                        {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:363",
                            "name": "uterus neoplasm",
                            "description": ""
                        }
                    ]
                }
            ]
        },
        {
            "significant": "Yes",
            "trend": "up",
            "name": "Esophageal cancer [DO disease name]",
            "url": "http://disease-ontology.org/term/DOID:5041",
            "evidence": [
                {
                    "database": "BioXpress",
                    "id": "O15315",
                    "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15315"
                }
            ],
            "disease": [
                {
                    "disease_id": "DOID:5041",
                    "recommended_name": {
                        "id": "DOID:5041",
                        "resource": "Disease Ontology",
                        "url": "http://disease-ontology.org/term/DOID:5041",
                        "name": "esophageal cancer",
                        "description": "A gastrointestinal system cancer that is located_in the esophagus."
                    },
                    "synonyms": [
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Distal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of Proximal Third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "DOID:5041",
                            "resource": "Disease Ontology",
                            "url": "http://disease-ontology.org/term/DOID:5041",
                            "name": "malignant tumor of the middle Third of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": "A primary or metastatic malignant neoplasm involving the esophagus."
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "cancer of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal cancer, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophageal squamous cell carcinoma, somatic",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "esophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophageal tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant esophagus tumor",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant oesophagus neoplasm",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant oesophagus tumour",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of the esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of the oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "oesophagus cancer",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca lower third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca lower third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca middle third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "Ca middle third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of distal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of lower third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of lower third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of middle third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of middle third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of proximal third of oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of upper third esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant neoplasm of upper third oesophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of abdominal esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of distal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumor of proximal third of esophagus",
                            "description": ""
                        },
                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                            "name": "malignant tumor of the middle third of the esophagus",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of distal third of oesophagus",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
                            "url": "https://monarchinitiative.org/disease/MONDO:0007576",
                            "name": "malignant tumour of proximal third of oesophagus",
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                        {
                            "id": "MONDO:0007576",
                            "resource": "MONDO",
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                            "id": "MONDO:0007576",
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            "id": "R-HSA-983231",
            "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231",
            "database": "Reactome",
            "categories": [
                "Protein Classification"
            ]
        },
        {
            "id": "NP_001308746",
            "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308746",
            "database": "RefSeq",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O15315",
            "url": "https://www.uniprot.org/uniprot/O15315",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O15315-1",
            "url": "https://www.uniprot.org/uniprot/O15315-1",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O15315-2",
            "url": "https://www.uniprot.org/uniprot/O15315-2",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O15315-3",
            "url": "https://www.uniprot.org/uniprot/O15315-3",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O15315-4",
            "url": "https://www.uniprot.org/uniprot/O15315-4",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        },
        {
            "id": "O15315-5",
            "url": "https://www.uniprot.org/uniprot/O15315-5",
            "database": "UniProtKB",
            "categories": [
                "Protein"
            ]
        }
    ],
    "sequence": {
        "sequence": "MGSKKLKRVGLSQELCDRLSRHQILTCQDFLCLSPLELMKVTGLSYRGVHELLCMVSRACAPKMQTAYGIKAQRSADFSPAFLSTTLSALDEALHGGVACGSLTEITGPPGCGKTQFCIMMSILATLPTNMGGLEGAVVYIDTESAFSAERLVEIAESRFPRYFNTEEKLLLTSSKVHLYRELTCDEVLQRIESLEEEIISKGIKLVILDSVASVVRKEFDAQLQGNLKERNKFLAREASSLKYLAEEFSIPVILTNQITTHLSGALASQADLVSPADDLSLSEGTSGSSCVIAALGNTWSHSVNTRLILQYLDSERRQILIAKSPLAPFTSFVYTIKEEGLVLQETTFCSVTQAELNWAPEILPPQPPEQLGLQMCHHTQLIF",
        "length": 384,
        "header": "sp|O15315-3|RA51B_HUMAN Isoform 3 of DNA repair protein RAD51 homolog 2  OS=Homo sapiens OX=9606 GN=RAD51B PE=1 SV=2 CANONICAL=O15315-3"
    },
    "isoforms": [
        {
            "isoform_ac": "O15315-1",
            "url": "",
            "sequence": {
                "sequence": "MGSKKLKRVGLSQELCDRLSRHQILTCQDFLCLSPLELMKVTGLSYRGVHELLCMVSRACAPKMQTAYGIKAQRSADFSPAFLSTTLSALDEALHGGVACGSLTEITGPPGCGKTQFCIMMSILATLPTNMGGLEGAVVYIDTESAFSAERLVEIAESRFPRYFNTEEKLLLTSSKVHLYRELTCDEVLQRIESLEEEIISKGIKLVILDSVASVVRKEFDAQLQGNLKERNKFLAREASSLKYLAEEFSIPVILTNQITTHLSGALASQADLVSPADDLSLSEGTSGSSCVIAALGNTWSHSVNTRLILQYLDSERRQILIAKSPLAPFTSFVYTIKEEGLVLQAYGNS",
                "length": 350,
                "header": "sp|O15315-1|RA51B_HUMAN Isoform 1 of DNA repair protein RAD51 homolog 2  OS=Homo sapiens OX=9606 GN=RAD51B PE=1 SV=2 CANONICAL=O15315-3"
            },
            "locus": {
                "chromosome": "14",
                "start_pos": 68497137,
                "end_pos": 67823544,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000460526.6",
                        "url": "https://www.ensembl.org/id/ENST00000460526.6"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000518559.1",
                        "url": "https://www.ensembl.org/id/ENSP00000518559.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "O15315-2",
            "url": "",
            "sequence": {
                "sequence": "MGSKKLKRVGLSQELCDRLSRHQILTCQDFLCLSPLELMKVTGLSYRGVHELLCMVSRACAPKMQTAYGIKAQRSADFSPAFLSTTLSALDEALHGGVACGSLTEITGPPGCGKTQFCIMMSILATLPTNMGGLEGAVVYIDTESAFSAERLVEIAESRFPRYFNTEEKLLLTSSKVHLYRELTCDEVLQRIESLEEEIISKGIKLVILDSVASVVRKEFDAQLQGNLKERNKFLAREASSLKYLAEEFSIPVILTNQITTHLSGALASQADLVSPADDLSLSEGTSGSSCVIAALGNTWSHSVNTRLILQYLDSERRQILIAKSPLAPFTSFVYTIKEEGLVLQGQEKP",
                "length": 350,
                "header": "sp|O15315-2|RA51B_HUMAN Isoform 2 of DNA repair protein RAD51 homolog 2  OS=Homo sapiens OX=9606 GN=RAD51B PE=1 SV=2 CANONICAL=O15315-3"
            },
            "locus": {
                "chromosome": "14",
                "start_pos": 68477661,
                "end_pos": 67823544,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000471583.6",
                        "url": "https://www.ensembl.org/id/ENST00000471583.6"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000418859.1",
                        "url": "https://www.ensembl.org/id/ENSP00000418859.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "O15315-3",
            "url": "",
            "sequence": {
                "sequence": "MGSKKLKRVGLSQELCDRLSRHQILTCQDFLCLSPLELMKVTGLSYRGVHELLCMVSRACAPKMQTAYGIKAQRSADFSPAFLSTTLSALDEALHGGVACGSLTEITGPPGCGKTQFCIMMSILATLPTNMGGLEGAVVYIDTESAFSAERLVEIAESRFPRYFNTEEKLLLTSSKVHLYRELTCDEVLQRIESLEEEIISKGIKLVILDSVASVVRKEFDAQLQGNLKERNKFLAREASSLKYLAEEFSIPVILTNQITTHLSGALASQADLVSPADDLSLSEGTSGSSCVIAALGNTWSHSVNTRLILQYLDSERRQILIAKSPLAPFTSFVYTIKEEGLVLQETTFCSVTQAELNWAPEILPPQPPEQLGLQMCHHTQLIF",
                "length": 384,
                "header": "sp|O15315-3|RA51B_HUMAN Isoform 3 of DNA repair protein RAD51 homolog 2  OS=Homo sapiens OX=9606 GN=RAD51B PE=1 SV=2 CANONICAL=O15315-3"
            },
            "locus": {
                "chromosome": "14",
                "start_pos": 68594600,
                "end_pos": 67823544,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000487270.5",
                        "url": "https://www.ensembl.org/id/ENST00000487270.5"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000419471.1",
                        "url": "https://www.ensembl.org/id/ENSP00000419471.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "O15315-4",
            "url": "",
            "sequence": {
                "sequence": "MGSKKLKRVGLSQELCDRLSRHQILTCQDFLCLSPLELMKVTGLSYRGVHELLCMVSRACAPKMQTAYGIKAQRSADFSPAFLSTTLSALDEALHGGVACGSLTEITGPPGCGKTQFCIMMSILATLPTNMGGLEGAVVYIDTESAFSAERLVEIAESRFPRYFNTEEKLLLTSSKVHLYRELTCDEVLQRIESLEEEIISKGIKLVILDSVASVVRKEFDAQLQGNLKERNKFLAREASSLKYLAEEFSIPVILTNQITTHLSGALASQADLVSPADDLSLSEGTSGSSCVIAALGNTWSHSVNTRLILQYLDSERRQILIAKSPLAPFTSFVYTIKEEGLVLQEFWHICISGFSIQNRLKENES",
                "length": 366,
                "header": "sp|O15315-4|RA51B_HUMAN Isoform 4 of DNA repair protein RAD51 homolog 2  OS=Homo sapiens OX=9606 GN=RAD51B PE=1 SV=2 CANONICAL=O15315-3"
            },
            "locus": {
                "chromosome": "14",
                "start_pos": 68650842,
                "end_pos": 67823544,
                "strand": "-",
                "evidence": [
                    {
                        "database": "Ensembl Transcript",
                        "id": "ENST00000488612.5",
                        "url": "https://www.ensembl.org/id/ENST00000488612.5"
                    },
                    {
                        "database": "Ensembl Peptide",
                        "id": "ENSP00000420061.1",
                        "url": "https://www.ensembl.org/id/ENSP00000420061.1"
                    }
                ]
            }
        },
        {
            "isoform_ac": "O15315-5",
            "url": "",
            "sequence": {
                "sequence": "MMSILATLPTNMGGLEGAVVYIDTESAFSAERLVEIAESRFPRYFNTEEKLLLTSSKVHLYRELTCDEVLQRIESLEEEIISKGIKLVILDSVASVVRKEFDAQLQGNLKERNKFLAREASSLKYLAEEFSIPVILTNQITTHLSGALASQADLVSPADDLSLSEGTSGSSCVIAALGNTWSHSVNTRLILQYLDSERRQILIAKSPLAPFTSFVYTIKEEGLVLQGQEKP",
                "length": 231,
                "header": "sp|O15315-5|RA51B_HUMAN Isoform 5 of DNA repair protein RAD51 homolog 2  OS=Homo sapiens OX=9606 GN=RAD51B PE=1 SV=2 CANONICAL=O15315-3"
            },
            "locus": {}
        }
    ],
    "glycosylation": [
        {
            "glytoucan_ac": "G49108TO",
            "type": "O-linked",
            "subtype": "O-GlcNAcylation",
            "site_category": "reported_with_glycan",
            "site_seq": "T",
            "relation": "attached",
            "comment": "O-GlcNAcylation",
            "start_pos": 66,
            "start_aa": "Thr",
            "end_pos": 66,
            "end_aa": "Thr",
            "residue": "Thr",
            "site_lbl": "Thr66",
            "evidence": [
                {
                    "id": "O15315",
                    "database": "O-GlcNAc Database",
                    "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15315"
                },
                {
                    "id": "30379171",
                    "database": "PubMed",
                    "url": "https://glygen.org/publication/PubMed/30379171"
                },
                {
                    "id": "O15315",
                    "database": "O-GlcNAc Atlas",
                    "url": "https://oglcnac.org/atlas/detail/O15315"
                }
            ]
        }
    ],
    "phosphorylation": [],
    "glycation": [],
    "keywords": [
        "glycoprotein",
        "glycoprotein_reported_with_glycan"
    ],
    "publication": [
        {
            "title": "Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals.",
            "journal": "Molecular and cellular biology",
            "date": "1999",
            "authors": "Marston NJ, Richards WJ, Hughes D, Bertwistle D, Marshall CJ, Ashworth A",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-5693616",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "10373512",
                    "url": "https://glygen.org/publication/PubMed/10373512"
                }
            ]
        },
        {
            "title": "Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations.",
            "journal": "Proceedings of the National Academy of Sciences of the United States of America",
            "date": "1999",
            "authors": "Spain BH, Larson CJ, Shihabuddin LS, Gage FH, Verma IM",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-5693616",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "10570174",
                    "url": "https://glygen.org/publication/PubMed/10570174"
                }
            ]
        },
        {
            "title": "Nuclear localization signals of the BRCA2 protein.",
            "journal": "Biochemical and biophysical research communications",
            "date": "2000",
            "authors": "Yano K, Morotomi K, Saito H, Kato M, Matsuo F, Miki Y",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-5693616",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "10733923",
                    "url": "https://glygen.org/publication/PubMed/10733923"
                }
            ]
        },
        {
            "title": "Low fidelity DNA synthesis by human DNA polymerase-eta.",
            "journal": "Nature",
            "date": "2000",
            "authors": "Matsuda T, Bebenek K, Masutani C, Hanaoka F, Kunkel TA",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-5685942",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "10801132",
                    "url": "https://glygen.org/publication/PubMed/10801132"
                }
            ]
        },
        {
            "title": "Mechanisms of accurate translesion synthesis by human DNA polymerase eta.",
            "journal": "The EMBO journal",
            "date": "2000",
            "authors": "Masutani C, Kusumoto R, Iwai S, Hanaoka F",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-5685942",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "10856253",
                    "url": "https://glygen.org/publication/PubMed/10856253"
                }
            ]
        },
        {
            "title": "Fidelity and processivity of DNA synthesis by DNA polymerase kappa, the product of the human DINB1 gene.",
            "journal": "The Journal of biological chemistry",
            "date": "2000",
            "authors": "Ohashi E, Bebenek K, Matsuda T, Feaver WJ, Gerlach VL, Friedberg EC, Ohmori H, Kunkel TA",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-5685942",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5685942"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11006276",
                    "url": "https://glygen.org/publication/PubMed/11006276"
                }
            ]
        },
        {
            "title": "Multitasking in signal transduction by a promiscuous human Ins(3,4,5,6)P(4) 1-kinase/Ins(1,3,4)P(3) 5/6-kinase.",
            "journal": "The Biochemical journal",
            "date": "2000",
            "authors": "Yang X, Shears SB",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-983231",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11042108",
                    "url": "https://glygen.org/publication/PubMed/11042108"
                }
            ]
        },
        {
            "title": "Rabenosyn-5, a novel Rab5 effector, is complexed with hVPS45 and recruited to endosomes through a FYVE finger domain.",
            "journal": "The Journal of cell biology",
            "date": "2000",
            "authors": "Nielsen E, Christoforidis S, Uttenweiler-Joseph S, Miaczynska M, Dewitte F, Wilm M, Hoflack B, Zerial M",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-983231",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11062261",
                    "url": "https://glygen.org/publication/PubMed/11062261"
                }
            ]
        },
        {
            "title": "Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins.",
            "journal": "Nature",
            "date": "2001",
            "authors": "Lachner M, O'Carroll D, Rea S, Mechtler K, Jenuwein T",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-983231",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11242053",
                    "url": "https://glygen.org/publication/PubMed/11242053"
                }
            ]
        },
        {
            "title": "Complex formation by the human RAD51C and XRCC3 recombination repair proteins.",
            "journal": "Proceedings of the National Academy of Sciences of the United States of America",
            "date": "2001",
            "authors": "Masson JY, Stasiak AZ, Stasiak A, Benson FE, West SC",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-5693579",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693579"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11459987",
                    "url": "https://glygen.org/publication/PubMed/11459987"
                }
            ]
        },
        {
            "title": "RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51.",
            "journal": "J. Biol. Chem.",
            "date": "2002",
            "authors": "Miller KA, Yoshikawa DM, McConnell IR, Clark R, Schild D, Albala JS",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O15315",
                    "url": "https://www.uniprot.org/uniprot/O15315"
                },
                {
                    "database": "Reactome",
                    "id": "R-HSA-983231",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11744692",
                    "url": "https://glygen.org/publication/PubMed/11744692"
                }
            ]
        },
        {
            "title": "Identification and purification of two distinct complexes containing the five RAD51 paralogs.",
            "journal": "Genes &amp; development",
            "date": "2001",
            "authors": "Masson JY, Tarsounas MC, Stasiak AZ, Stasiak A, Shah R, McIlwraith MJ, Benson FE, West SC",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O15315",
                    "url": "https://www.uniprot.org/uniprot/O15315"
                },
                {
                    "database": "Reactome",
                    "id": "R-HSA-5693616",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11751635",
                    "url": "https://glygen.org/publication/PubMed/11751635"
                }
            ]
        },
        {
            "title": "Mediator function of the human Rad51B-Rad51C complex in Rad51/RPA-catalyzed DNA strand exchange.",
            "journal": "Genes &amp; development",
            "date": "2001",
            "authors": "Sigurdsson S, Van Komen S, Bussen W, Schild D, Albala JS, Sung P",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O15315",
                    "url": "https://www.uniprot.org/uniprot/O15315"
                },
                {
                    "database": "Reactome",
                    "id": "R-HSA-983231",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11751636",
                    "url": "https://glygen.org/publication/PubMed/11751636"
                }
            ]
        },
        {
            "title": "Cancer susceptibility and the functions of BRCA1 and BRCA2.",
            "journal": "Cell",
            "date": "2002",
            "authors": "Venkitaraman AR",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-5693616",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5693616"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11832208",
                    "url": "https://glygen.org/publication/PubMed/11832208"
                }
            ]
        },
        {
            "title": "Interactions involving the Rad51 paralogs Rad51C and XRCC3 in human cells.",
            "journal": "Nucleic Acids Res.",
            "date": "2002",
            "authors": "Wiese Claudia, Collins David W, Albala Joanna S, Thompson Larry H, Kronenberg Amy, Schild David",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O15315",
                    "url": "https://www.uniprot.org/uniprot/O15315"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11842112",
                    "url": "https://glygen.org/publication/PubMed/11842112"
                }
            ]
        },
        {
            "title": "Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in human cells.",
            "journal": "Nucleic acids research",
            "date": "2002-02-15",
            "authors": "Liu Nan, Schild David, Thelen Michael P, Thompson Larry H",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O15315",
                    "url": "https://www.uniprot.org/uniprot/O15315"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11842113",
                    "url": "https://glygen.org/publication/PubMed/11842113"
                }
            ]
        },
        {
            "title": "The human beta-globin locus control region.",
            "journal": "European journal of biochemistry",
            "date": "2002",
            "authors": "Levings PP, Bungert J",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-983231",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11895428",
                    "url": "https://glygen.org/publication/PubMed/11895428"
                }
            ]
        },
        {
            "title": "Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo.",
            "journal": "Journal of cell science",
            "date": "2002",
            "authors": "Rojo M, Legros F, Chateau D, Lombes A",
            "evidence": [
                {
                    "database": "Reactome",
                    "id": "R-HSA-983231",
                    "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231"
                }
            ],
            "reference": [
                {
                    "type": "PubMed",
                    "id": "11950885",
                    "url": "https://glygen.org/publication/PubMed/11950885"
                }
            ]
        },
        {
            "title": "Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma.",
            "journal": "Cytogenet. Cell Genet.",
            "date": "2001",
            "authors": "Blank C, Schoenmakers E F, Rogalla P, Huys E H, van Rijk A A, Drieschner N, Bullerdiek J",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O15315",
                    "url": "https://www.uniprot.org/uniprot/O15315"
                }
            ],
            "reference": [
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