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    {
        "title": "A case of anorexia nervosa with hyperbilirubinaemia in a patient homozygous for a mutation in the bilirubin UDP-glucuronosyltransferase gene.",
        "journal": "European journal of pediatrics",
        "date": "1999-07",
        "authors": "Maruo Y, Wada S, Yamamoto K, Sato H, Yamano T, Shimada M",
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                            {
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                            {
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    },
    {
        "title": "Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians.",
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                    {
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                    {
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                    {
                        "field": "o_linked_glycans",
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                ],
                "sort_fields": []
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                    {
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                "sort_fields": []
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        ]
    },
    {
        "title": "Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene.",
        "journal": "Pediatrics",
        "date": "2000",
        "authors": "Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada M",
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            {
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                    {
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                    {
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                    {
                        "id": "rs34993780",
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                    {
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                            {
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                            {
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                            {
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                                "name": "Crigler-Najjar syndrome, type 1",
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                            {
                                "id": "MONDO:0021020",
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                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
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                                "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": ""
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                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
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        "title": "Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.",
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        "title": "Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene.",
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        "authors": "Ohnishi A, Emi Y",
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                            {
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                                "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": ""
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                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
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                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1324"
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                            {
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                            {
                                "id": "MONDO:0021020",
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                            {
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                                "id": "MONDO:0021020",
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                                "id": "MONDO:0021020",
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                                "id": "MONDO:0021020",
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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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                            {
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                "chr_pos": "233760498",
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                            {
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                            {
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                            {
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                            {
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                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2531",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2531",
                                "resource": "Disease Ontology",
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                            {
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                            },
                            {
                                "id": "DOID:3803",
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                                "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",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0021020",
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                            {
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                            {
                                "id": "DOID:2739",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2739",
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                                "description": ""
                            },
                            {
                                "id": "DOID:2739",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
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                            {
                                "id": "MONDO:0007745",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
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                            {
                                "id": "MONDO:0007745",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
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                            {
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                            {
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                                "description": ""
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                                "id": "MONDO:0007745",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
                                "name": "hyperbilirubinemia type 1",
                                "description": ""
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        ]
    },
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        "title": "Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations.",
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        "authors": "Lin Rong, Wang Xiaofeng, Wang Yi, Zhang Feng, Wang Ying, Fu Wenqing, Yu Ting, Li Shilin, Xiong Momiao, Huang Wei, Jin Li",
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                            {
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                            {
                                "id": "MONDO:0007745",
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                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "phosphorylation",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_predicted",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
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                    {
                        "field": "total_sites",
                        "count": 0
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                    {
                        "field": "n_linked_sites",
                        "count": 0
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                    {
                        "field": "o_linked_sites",
                        "count": 0
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                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
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                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
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                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
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                    {
                        "field": "n_linked_glycans",
                        "count": 0
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                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "The molecular weights of UDP-glucuronyltransferase determined with radiation-inactivation analysis. A molecular model of bilirubin UDP-glucuronyltransferase.",
        "journal": "The Journal of biological chemistry",
        "date": "1984-10-10",
        "authors": "Peters W H, Jansen P L, Nauta H",
        "reference": {
            "type": "PubMed",
            "id": "6480579",
            "url": "https://pubmed.ncbi.nlm.nih.gov/6480579"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P22309-1",
                "protein_name": "UDP-glucuronosyltransferase 1A1",
                "gene_name": "UGT1A1",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P22309",
                        "url": "https://www.uniprot.org/uniprotkb/P22309"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "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": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
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                            },
                            {
                                "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",
                        "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",
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        "title": "Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.",
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        "title": "Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.",
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                            {
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    {
        "title": "A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.",
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    {
        "title": "Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.",
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        ],
        "record_id": "pubmed.8280139",
        "abstract": "",
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    },
    {
        "title": "Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase.",
        "journal": "Human molecular genetics",
        "date": "1995-07",
        "authors": "Koiwai O, Nishizawa M, Hasada K, Aono S, Adachi Y, Mamiya N, Sato H",
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                    {
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                    {
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                    {
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                    {
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                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).",
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                "chr_pos": "233760973",
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                            {
                                "id": "MONDO:0008903",
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                            {
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0008903",
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                                "id": "MONDO:0012942",
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                                "id": "MONDO:0012942",
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                                "id": "MONDO:0012955",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012955",
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                                "description": ""
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                            {
                                "id": "MONDO:0013631",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                                "description": ""
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                                "url": "https://monarchinitiative.org/disease/MONDO:0013631",
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                                "description": ""
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                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
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                            {
                                "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": ""
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                            {
                                "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": ""
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                            {
                                "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": ""
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                            {
                                "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"
                            }
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                        "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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                            "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."
                        },
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                            {
                                "id": "DOID:2739",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2739",
                                "name": "Constitutional hyperbilirubinemia",
                                "description": ""
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    {
        "title": "A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.",
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        "authors": "Seppen J, Steenken E, Lindhout D, Bosma PJ, Elferink RP",
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                            {
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                "evidence": [
                    {
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                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587776765"
                    },
                    {
                        "id": "rs587776765",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs587776765#frequency_tab"
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                    {
                        "id": "9497253",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9497253"
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                ],
                "glycoeffect": [],
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                    "disease"
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                            "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": ""
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                            {
                                "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": ""
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                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "bilirubin-UGT deficiency type 1",
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                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "hereditary unconjugated hyperbilirubinemia type 1",
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                            },
                            {
                                "id": "MONDO:0021020",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0021020",
                                "name": "hyperbilirubinemia, Crigler-Najjar type 1",
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                            },
                            {
                                "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"
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                        "evidence": [
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                                "id": "218800",
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                            },
                            {
                                "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",
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                        },
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                            {
                                "id": "DOID:2739",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:2739",
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                                "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"
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                        ]
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                ],
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        ],
        "record_id": "pubmed.9497253",
        "abstract": "",
        "glycosylation": [],
        "mutagenesis": [],
        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
            {
                "table_id": "referenced_proteins",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 1
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                ],
                "sort_fields": [
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                    "gene_name",
                    "tax_name"
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            },
            {
                "table_id": "referenced_glycans",
                "table_stats": [
                    {
                        "field": "total",
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                ],
                "sort_fields": []
            },
            {
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                    {
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                    {
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                ],
                "sort_fields": []
            },
            {
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                    {
                        "field": "total_sites",
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                ],
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            {
                "table_id": "glycosylation_reported",
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                    {
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                ],
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            {
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            {
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        ]
    },
    {
        "title": "Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.",
        "journal": "Journal of human genetics",
        "date": "1998",
        "authors": "Yamamoto K, Soeda Y, Kamisako T, Hosaka H, Fukano M, Sato H, Fujiyama Y, Adachi Y, Satoh Y, Bamba T",
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                            "resource": "Disease Ontology",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "adenocarcinoma of lung, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                            },
                            {
                                "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": ""
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
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                                "name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
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                            },
                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumor of the lung",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "malignant tumour of the lung",
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                            {
                                "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": ""
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                            {
                                "id": "MONDO:0008903",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
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                            {
                                "id": "MONDO:0008903",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008903",
                                "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012159",
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                            {
                                "id": "MONDO:0012159",
                                "resource": "MONDO",
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                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012942",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012942",
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                                "id": "MONDO:0012955",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0012955",
                                "resource": "MONDO",
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                                "name": "lung cancer susceptibility 4",
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                            {
                                "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",
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                            {
                                "id": "MIM:211980",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211980",
                                "name": "Lung cancer",
                                "description": "Lung cancer"
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                            {
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                            {
                                "id": "DOID:3803",
                                "resource": "Disease Ontology",
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                                "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)."
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                            {
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                            {
                                "id": "MONDO:0021020",
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                            {
                                "id": "MONDO:0021020",
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                            {
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0007745",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007745",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
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                            {
                                "id": "MONDO:0007745",
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                            {
                                "id": "MONDO:0007745",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
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                            {
                                "id": "MONDO:0007745",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007745",
                                "name": "hyperbilirubinemia type 1",
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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/143500",
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        "title": "Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene.",
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                    {
                        "field": "n_linked_glycan_sites",
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                        "field": "n_linked_glycans",
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                    },
                    {
                        "field": "o_linked_glycans",
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                ],
                "sort_fields": []
            },
            {
                "table_id": "phosphorylation",
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                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported",
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                        "field": "total",
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                    {
                        "field": "total_sites",
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                    {
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                        "field": "o_linked_sites",
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                    {
                        "field": "n_linked_glycan_sites",
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                    {
                        "field": "o_linked_glycan_sites",
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                    {
                        "field": "n_linked_glycans",
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                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
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                        "field": "total",
                        "count": 0
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                    {
                        "field": "total_sites",
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                ],
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            {
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                ],
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            {
                "table_id": "glycosylation_automatic_literature_mining",
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                        "field": "total",
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                ],
                "sort_fields": []
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        ]
    },
    {
        "title": "Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese.",
        "journal": "Journal of human genetics",
        "date": "1999",
        "authors": "Akaba K, Kimura T, Sasaki A, Tanabe S, Wakabayashi T, Hiroi M, Yasumura S, Maki K, Aikawa S, Hayasaka K",
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        ],
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                    {
                        "id": "rs4148323",
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                    {
                        "id": "rs4148323",
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                    {
                        "id": "rs4148323",
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                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs4148323#frequency_tab"
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                    {
                        "id": "rs4148323",
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                        "id": "10412811",
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                        "id": "9784835",
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                    {
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                "end_pos": 71,
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                "sequence_org": "G",
                "sequence_mut": "R",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).",
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                "site_lbl": "G71",
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                            {
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                            {
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                            {
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                            {
                                "id": "DOID:3803",
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                            {
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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",
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                            {
                                "id": "MONDO:0021020",
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                            },
                            {
                                "id": "MONDO:0021020",
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                                "name": "UGT deficiency type 1",
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                            {
                                "id": "MONDO:0021020",
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                                "name": "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1",
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                                "id": "MONDO:0021020",
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                            {
                                "id": "MONDO:0021020",
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                            {
                                "id": "MONDO:0021020",
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                                "name": "Crigler Najjar syndrome, type 1",
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                            {
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                                "resource": "MIM",
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                                "name": "Crigler-Najjar syndrome 1",
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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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