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                "tax_name": "Human"
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        ]
    },
    {
        "title": "The polycystin complex mediates Wnt/Ca(2+) signalling.",
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        "date": "2016",
        "authors": "Kim S, Nie H, Nesin V, Tran U, Outeda P, Bai CX, Keeling J, Maskey D, Watnick T, Wessely O, Tsiokas L",
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                "uniprot_canonical_ac": "O14641-1",
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    {
        "title": "Mutations in GANAB, encoding the glucosidase IIalpha subunit, cause autosomal-dominant polycystic kidney and liver disease.",
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        "date": "2016",
        "authors": "Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Banales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrezet MP, Ferec C, Le Meur Y, Torres VE, Harris PC",
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        ],
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                ],
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        ],
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                ],
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                    {
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                                "name": "PKD3",
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                            },
                            {
                                "id": "MONDO:0010916",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010916",
                                "name": "polycystic kidney disease 3 with or without polycystic liver disease",
                                "description": "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene."
                            },
                            {
                                "id": "MONDO:0010916",
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                            {
                                "id": "MONDO:0010916",
                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010916",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010916",
                                "name": "GANAB autosomal dominant polycystic kidney disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010916",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010916",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010916",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010916",
                                "name": "Pkd3",
                                "description": ""
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        "title": "The Structure of the Polycystic Kidney Disease Channel PKD2 in Lipid Nanodiscs.",
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        "title": "Disease-associated missense mutations in the pore loop of polycystin-2 alter its ion channel function in a heterologous expression system.",
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    {
        "title": "PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.",
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        "authors": "Mochizuki T, Wu G, Hayashi T, Xenophontos S L, Veldhuisen B, Saris J J, Reynolds D M, Cai Y, Gabow P A, Pierides A, Kimberling W J, Breuning M H, Deltas C C, Peters D J, Somlo S",
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                    {
                        "id": "rs121918040",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121918040#frequency_tab"
                    },
                    {
                        "id": "rs121918040",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121918040"
                    },
                    {
                        "id": "8650545",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8650545"
                    },
                    {
                        "id": "rs121918040",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121918040"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 742,
                "end_pos": 742,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 2 filters: num. of cancers (5); protein-of-interest(glycogene, lectin/c-type/polycystin).",
                "chr_id": "4",
                "chr_pos": "88065479",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R742",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
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                        },
                        "synonyms": [
                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
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                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
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                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:5166",
                            "DOID:2021",
                            "DOID:4114"
                        ],
                        "evidence": [
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                                "database": "AGR",
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                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4362",
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                            "resource": "Disease Ontology",
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                            {
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                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
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                                "name": "cervix cancer",
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                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
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                                "name": "cervix uteri cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
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                                "name": "tumor of the Cervix Uteri",
                                "description": ""
                            },
                            {
                                "id": "DOID:4362",
                                "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0002974",
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                                "name": "cervical cancer",
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                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "tumor of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "tumour of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "uterine cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cancer of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "cervical cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervical neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervical tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervical tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant cervix uteri tumour",
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant neoplasm of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of the uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumor of uterine cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of cervix uteri",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the cervix",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant tumour of the cervix uteri",
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                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                            {
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "malignant uterine cervix tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0002974",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0002974",
                                "name": "uterine cervix cancer",
                                "description": ""
                            },
                            {
                                "id": "MIM:603956",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/603956",
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                                "description": "Cervical cancer"
                            }
                        ],
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                                "id": "4362",
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                        ]
                    },
                    {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:263",
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                        },
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                                "id": "DOID:263",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:263",
                                "name": "malignant neoplasm of kidney except pelvis",
                                "description": ""
                            },
                            {
                                "id": "DOID:263",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:263",
                                "name": "malignant tumour of kidney",
                                "description": ""
                            },
                            {
                                "id": "DOID:263",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:263",
                                "name": "renal cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:4455"
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                                "id": "263",
                                "database": "AGR",
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                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4159",
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                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:3451"
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                        "evidence": [
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                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:9256",
                        "recommended_name": {
                            "id": "DOID:9256",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:9256",
                            "name": "colorectal cancer",
                            "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of colorectum",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of large intestine",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "cancer of the large bowel",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, advanced, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colon cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectum cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumor",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
                                "description": ""
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        "title": "Cooperative autoinhibition and multi-level activation mechanisms of calcineurin.",
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