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                            {
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                                "resource": "MONDO",
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                                "name": "Crigler-Najjar syndrome type 1",
                                "description": "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)."
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "Crigler-Najjar syndrome, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "Crigler-Najjar syndrome, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "UGT deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "bilirubin-UGT deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "hereditary unconjugated hyperbilirubinemia type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "hyperbilirubinemia, Crigler-Najjar type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "Crigler Najjar syndrome, type 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:218800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/218800",
                                "name": "Crigler-Najjar syndrome 1",
                                "description": "Crigler-Najjar syndrome 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "218800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/218800"
                            },
                            {
                                "id": "3803",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3803"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2739",
                        "recommended_name": {
                            "id": "DOID:2739",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:2739",
                            "name": "Gilbert syndrome",
                            "description": "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:2739",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2739",
                                "name": "Constitutional hyperbilirubinemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:2739",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2739",
                                "name": "Gilbert's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:2739",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2739",
                                "name": "Gilbert's syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:2739",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2739",
                                "name": "Gilbert-Meulengracht syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:2739",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2739",
                                "name": "hereditary nonhemolytic jaundice",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007745",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
                                "name": "Gilbert syndrome",
                                "description": "An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice."
                            },
                            {
                                "id": "MONDO:0007745",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
                                "name": "Gilbert disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007745",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
                                "name": "Gilbert syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007745",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
                                "name": "Gilbert's syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007745",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
                                "name": "familial cholemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007745",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
                                "name": "hyperbilirubinemia type 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:143500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/143500",
                                "name": "Gilbert syndrome",
                                "description": "Gilbert syndrome"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "143500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/143500"
                            },
                            {
                                "id": "2739",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:2739"
                            }
                        ]
                    }
                ],
                "filter_code": "000000000000010000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "P22309-1"
            },
            {
                "evidence": [
                    {
                        "id": "P22309",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P22309"
                    },
                    {
                        "id": "rs35350960",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35350960"
                    },
                    {
                        "id": "rs35350960",
                        "database": "1000Genomes",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35350960"
                    },
                    {
                        "id": "rs35350960",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35350960"
                    },
                    {
                        "id": "rs35350960",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs35350960#frequency_tab"
                    },
                    {
                        "id": "rs35350960",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs35350960"
                    },
                    {
                        "id": "1692835",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/1692835"
                    },
                    {
                        "id": "18004206",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18004206"
                    },
                    {
                        "id": "6480579",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/6480579"
                    },
                    {
                        "id": "8528206",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8528206"
                    },
                    {
                        "id": "9621515",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9621515"
                    },
                    {
                        "id": "rs35350960",
                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs35350960"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 229,
                "end_pos": 229,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "P",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).",
                "chr_id": "2",
                "chr_pos": "233760973",
                "ref_nt": "C",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "P229",
                "disease": [
                    {
                        "disease_id": "DOID:1324",
                        "recommended_name": {
                            "id": "DOID:1324",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1324",
                            "name": "lung cancer",
                            "description": "A respiratory system cancer that is located_in the lung."
                        },
                        "synonyms": [
                            {
                                "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: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: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": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:4765"
                        ],
                        "evidence": [
                            {
                                "id": "1324",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3803",
                        "recommended_name": {
                            "id": "DOID:3803",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3803",
                            "name": "Crigler-Najjar syndrome",
                            "description": "A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT)."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3803",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3803",
                                "name": "Bilirubin UDP glucuronyl transferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:3803",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3803",
                                "name": "Crigler Najjar syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:3803",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3803",
                                "name": "Crigler-Najjar syndrome, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "Crigler-Najjar syndrome type 1",
                                "description": "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)."
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "Crigler-Najjar syndrome, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "Crigler-Najjar syndrome, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "UGT deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "bilirubin-UGT deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "hereditary unconjugated hyperbilirubinemia type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "hyperbilirubinemia, Crigler-Najjar type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "Crigler Najjar syndrome, type 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:218800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/218800",
                                "name": "Crigler-Najjar syndrome 1",
                                "description": "Crigler-Najjar syndrome 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "218800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/218800"
                            },
                            {
                                "id": "3803",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3803"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:2739",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007745",
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                            {
                                "id": "MONDO:0007745",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                            {
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                                "resource": "MONDO",
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                                "resource": "MONDO",
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