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        "title": "Characterization of an acyl-coA thioesterase that functions as a major regulator of peroxisomal lipid metabolism.",
        "journal": "The Journal of biological chemistry",
        "date": "2002",
        "authors": "Hunt MC, Solaas K, Kase BF, Alexson SE",
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            {
                "uniprot_canonical_ac": "Q9NYL5-1",
                "protein_name": "24-hydroxycholesterol 7-alpha-hydroxylase",
                "gene_name": "CYP39A1",
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            {
                "uniprot_canonical_ac": "Q9UNU6-1",
                "protein_name": "7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase",
                "gene_name": "CYP8B1",
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            {
                "uniprot_canonical_ac": "Q02318-1",
                "protein_name": "Sterol 26-hydroxylase, mitochondrial",
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            {
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            {
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                "gene_name": "ACOX2",
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            {
                "uniprot_canonical_ac": "P51857-1",
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            {
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            {
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            {
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            {
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                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O14734-1",
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                "gene_name": "ACOT8",
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            },
            {
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                "protein_name": "Bile salt export pump",
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                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
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        ],
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "colorectal cancer with chromosomal instability, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectal tumour",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant colorectum neoplasm",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant large bowel neoplasm",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                            {
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                                "resource": "MONDO",
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                                "name": "malignant large intestine tumour",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of colorectum",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large bowel",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant neoplasm of the large intestine",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large bowel",
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                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumor of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
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                            {
                                "id": "MONDO:0005575",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large bowel",
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
                                "name": "malignant tumour of the large intestine",
                                "description": ""
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                            {
                                "id": "MONDO:0005575",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0005575",
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                                "description": ""
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                                "resource": "MIM",
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:3451"
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                        "evidence": [
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                                "id": "4159",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111071",
                        "recommended_name": {
                            "id": "DOID:0111071",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111071",
                            "name": "congenital bile acid synthesis defect 1",
                            "description": "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111071",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111071",
                                "name": "CBAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011906",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011906",
                                "name": "congenital bile acid synthesis defect 1",
                                "description": "Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption."
                            },
                            {
                                "id": "MONDO:0011906",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011906",
                                "name": "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011906",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011906",
                                "name": "BASD1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011906",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011906",
                                "name": "CBAS1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011906",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011906",
                                "name": "HSD3B7 congenital bile acid synthesis defect",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011906",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011906",
                                "name": "bile acid synthesis defect, congenital, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011906",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011906",
                                "name": "congenital bile acid synthesis defect 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011906",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011906",
                                "name": "congenital bile acid synthesis defect caused by mutation in HSD3B7",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011906",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011906",
                                "name": "congenital bile acid synthesis defect type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011906",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011906",
                                "name": "3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011906",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011906",
                                "name": "bile acid synthesis defect, congenital, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011906",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011906",
                                "name": "congenital bile acid synthesis defect, type 1",
                                "description": ""
                            },
                            {
                                "id": "MIM:607765",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/607765",
                                "name": "Congenital bile acid synthesis defect 1",
                                "description": "Congenital bile acid synthesis defect 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "607765",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/607765"
                            },
                            {
                                "id": "0111071",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111071"
                            }
                        ]
                    }
                ],
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                    "somatic",
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                    "ebi"
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                "uniprot_canonical_ac": "Q9H2F3-1"
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            {
                "evidence": [
                    {
                        "id": "rs786200876",
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                        "id": "12679481",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/12679481"
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                ],
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                "start_pos": 17,
                "end_pos": 17,
                "sequence_org": "G",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.",
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