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                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
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        ],
        "mutagenesis": [
            {
                "start_pos": 387,
                "end_pos": 387,
                "sequence_org": "C",
                "sequence_mut": "A",
                "comment": "Abolishes autoubiquitination.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8WY64",
                        "url": "https://www.uniprot.org/uniprotkb/Q8WY64"
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                    {
                        "database": "PubMed",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/21685362"
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                    {
                        "database": "PubMed",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/14550572"
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                ],
                "uniprot_canonical_ac": "Q8WY64-1"
            },
            {
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                "end_pos": 387,
                "sequence_org": "C",
                "sequence_mut": "A",
                "comment": "Abolishes ubiquitin ligase activity.",
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8WY64",
                        "url": "https://www.uniprot.org/uniprotkb/Q8WY64"
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                    {
                        "database": "PubMed",
                        "id": "19520913",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/19520913"
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                    {
                        "database": "PubMed",
                        "id": "21685362",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/21685362"
                    },
                    {
                        "database": "PubMed",
                        "id": "14550572",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/14550572"
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                ],
                "uniprot_canonical_ac": "Q8WY64-1"
            },
            {
                "start_pos": 811,
                "end_pos": 811,
                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "No change. No change; when associated with R-816 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-816; R-830 and A-839.",
                "evidence": [
                    {
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/19520913"
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                "uniprot_canonical_ac": "P01130-1"
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            {
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                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "No change. No change; when associated with R-830. No change; when associated with R-811 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-830 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-830 and A-839.",
                "evidence": [
                    {
                        "database": "UniProtKB",
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                "uniprot_canonical_ac": "P01130-1"
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            {
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                "sequence_org": "K",
                "sequence_mut": "R",
                "comment": "No change. No change; when associated with R-816. No change; when associated with R-811 and R-816. Insensitive to MYLIP-triggered degradation; when associated with A-839. Insensitive to MYLIP-triggered degradation; when associated with R-816 and A-839. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-816 and A-839.",
                "evidence": [
                    {
                        "database": "UniProtKB",
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                "comment": "No change. Insensitive to MYLIP-triggered degradation; when associated with R-830. Insensitive to MYLIP-triggered degradation; when associated with R-816 and R-830. Insensitive to MYLIP-triggered degradation; when associated with R-811; R-816 and R-830.",
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    {
        "title": "Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol.",
        "journal": "Cell",
        "date": "2009",
        "authors": "Kwon HJ, Abi-Mosleh L, Wang ML, Deisenhofer J, Goldstein JL, Brown MS, Infante RE",
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                ],
                "sort_fields": []
            },
            {
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                    },
                    {
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                    {
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                    {
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                    {
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                        "count": 0
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                ],
                "sort_fields": []
            },
            {
                "table_id": "phosphorylation",
                "table_stats": [
                    {
                        "field": "total",
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                    {
                        "field": "total_sites",
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported",
                "table_stats": [
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                        "count": 0
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                    {
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                        "count": 0
                    },
                    {
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                    {
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                    },
                    {
                        "field": "n_linked_glycan_sites",
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                    {
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                    {
                        "field": "n_linked_glycans",
                        "count": 0
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                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
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                    },
                    {
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                    {
                        "field": "o_linked_sites",
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                    {
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                    {
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                    {
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                    {
                        "field": "o_linked_glycans",
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_predicted",
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                    {
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                    {
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                    {
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                    {
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                    {
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                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
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                    {
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                        "count": 0
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                    {
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                    {
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                        "count": 0
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                    {
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                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
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                    {
                        "field": "n_linked_glycans",
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                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.",
        "journal": "Proceedings of the National Academy of Sciences of the United States of America",
        "date": "1994",
        "authors": "Anderson RA, Byrum RS, Coates PM, Sando GN",
        "reference": {
            "type": "PubMed",
            "id": "8146180",
            "url": "https://pubmed.ncbi.nlm.nih.gov/8146180"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "O95782-1",
                "protein_name": "AP-2 complex subunit alpha-1",
                "gene_name": "AP2A1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P04114-1",
                "protein_name": "Apolipoprotein B-100",
                "gene_name": "APOB",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q86X29-1",
                "protein_name": "Lipolysis-stimulated lipoprotein receptor",
                "gene_name": "LSR",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P38571-1",
                "protein_name": "Lysosomal acid lipase/cholesteryl ester hydrolase",
                "gene_name": "LIPA",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O15118-1",
                "protein_name": "NPC intracellular cholesterol transporter 1",
                "gene_name": "NPC1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q6PIU2-1",
                "protein_name": "Neutral cholesterol ester hydrolase 1",
                "gene_name": "NCEH1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O75908-1",
                "protein_name": "Sterol O-acyltransferase 2",
                "gene_name": "SOAT2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P35610-1",
                "protein_name": "Sterol O-acyltransferase 1",
                "gene_name": "SOAT1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q00610-1",
                "protein_name": "Clathrin heavy chain 1",
                "gene_name": "CLTC",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P63010-1",
                "protein_name": "AP-2 complex subunit beta",
                "gene_name": "AP2B1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8NBP7-1",
                "protein_name": "Proprotein convertase subtilisin/kexin type 9",
                "gene_name": "PCSK9",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q5SW96-1",
                "protein_name": "Low density lipoprotein receptor adapter protein 1",
                "gene_name": "LDLRAP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P01130-1",
                "protein_name": "Low-density lipoprotein receptor",
                "gene_name": "LDLR",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q96CW1-1",
                "protein_name": "AP-2 complex subunit mu",
                "gene_name": "AP2M1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q6UWW8-1",
                "protein_name": "Carboxylesterase 3",
                "gene_name": "CES3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P09496-1",
                "protein_name": "Clathrin light chain A",
                "gene_name": "CLTA",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P61916-1",
                "protein_name": "NPC intracellular cholesterol transporter 2",
                "gene_name": "NPC2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P53680-1",
                "protein_name": "AP-2 complex subunit sigma",
                "gene_name": "AP2S1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O94973-1",
                "protein_name": "AP-2 complex subunit alpha-2",
                "gene_name": "AP2A2",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "O95782",
                        "url": "https://www.uniprot.org/uniprotkb/O95782"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs780495201",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780495201"
                    },
                    {
                        "id": "8146180",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8146180"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 199,
                "end_pos": 199,
                "sequence_org": "A",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid-related.",
                "chr_id": "10",
                "chr_pos": "89225178",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A199",
                "disease": [
                    {
                        "disease_id": "DOID:0080217",
                        "recommended_name": {
                            "id": "DOID:0080217",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080217",
                            "name": "lysosomal acid lipase deficiency",
                            "description": "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080217",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080217",
                                "name": "LAL deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080217",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080217",
                                "name": "LAL-D",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "cholesteryl ester storage disease",
                                "description": "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia."
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "LAL deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "LIPA deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "cholesterol ester hydrolase deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "cholesterol ester storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "lysosomal acid lipase deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "CESD",
                                "description": ""
                            },
                            {
                                "id": "MIM:278000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/278000",
                                "name": "Cholesteryl ester storage disease",
                                "description": "Cholesteryl ester storage disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0080217",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                            },
                            {
                                "id": "0080217",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:14502",
                        "recommended_name": {
                            "id": "DOID:14502",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:14502",
                            "name": "cholesterol ester storage disease",
                            "description": "A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:14502",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14502",
                                "name": "CESD",
                                "description": ""
                            },
                            {
                                "id": "DOID:14502",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14502",
                                "name": "partial LAL deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14502",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14502",
                                "name": "partial LIPA deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14502",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14502",
                                "name": "partial cholesterol ester hydrolase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14502",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14502",
                                "name": "partial lysosomal acid lipase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "cholesteryl ester storage disease",
                                "description": "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia."
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "LAL deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "LIPA deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "cholesterol ester hydrolase deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "cholesterol ester storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "lysosomal acid lipase deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "CESD",
                                "description": ""
                            },
                            {
                                "id": "MIM:278000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/278000",
                                "name": "Cholesteryl ester storage disease",
                                "description": "Cholesteryl ester storage disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "14502",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14502"
                            },
                            {
                                "id": "14502",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14502"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:14497",
                        "recommended_name": {
                            "id": "DOID:14497",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:14497",
                            "name": "Wolman disease",
                            "description": "A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "Acid esterase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "Acid lipase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "Wolman xanthomatosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "Wolman's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "Wolman's or triglyceride storage type III disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "Xanthomatosis, familial",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "acute infantile lysosomal acid lipase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "complete LAL deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "complete LIPA deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "complete cholesterol ester hydrolase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "complete lysosomal acid lipase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019148",
                                "name": "Wolman disease",
                                "description": "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues."
                            },
                            {
                                "id": "MONDO:0019148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019148",
                                "name": "lysosomal acid lipase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019148",
                                "name": "Wolman disease with hypolipoproteinemia and acanthocytosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019148",
                                "name": "Wolman's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019148",
                                "name": "familial xanthomatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019148",
                                "name": "liposomal acid lipase deficiency, Wolman type",
                                "description": ""
                            },
                            {
                                "id": "MIM:620151",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/620151",
                                "name": "Wolman disease",
                                "description": "Wolman disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "14497",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14497"
                            },
                            {
                                "id": "14497",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14497"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "100000000000000000000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "P38571-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs121965086",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121965086"
                    },
                    {
                        "id": "rs121965086",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121965086"
                    },
                    {
                        "id": "rs121965086",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121965086#frequency_tab"
                    },
                    {
                        "id": "rs121965086",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121965086"
                    },
                    {
                        "id": "8146180",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8146180"
                    },
                    {
                        "id": "8598644",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8598644"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 200,
                "end_pos": 200,
                "sequence_org": "L",
                "sequence_mut": "P",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid-related.",
                "chr_id": "10",
                "chr_pos": "89225168",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L200",
                "disease": [
                    {
                        "disease_id": "DOID:0080217",
                        "recommended_name": {
                            "id": "DOID:0080217",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080217",
                            "name": "lysosomal acid lipase deficiency",
                            "description": "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080217",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080217",
                                "name": "LAL deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080217",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080217",
                                "name": "LAL-D",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "cholesteryl ester storage disease",
                                "description": "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia."
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "LAL deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "LIPA deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "cholesterol ester hydrolase deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "cholesterol ester storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "lysosomal acid lipase deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "CESD",
                                "description": ""
                            },
                            {
                                "id": "MIM:278000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/278000",
                                "name": "Cholesteryl ester storage disease",
                                "description": "Cholesteryl ester storage disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0080217",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                            },
                            {
                                "id": "0080217",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080217"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:14502",
                        "recommended_name": {
                            "id": "DOID:14502",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:14502",
                            "name": "cholesterol ester storage disease",
                            "description": "A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:14502",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14502",
                                "name": "CESD",
                                "description": ""
                            },
                            {
                                "id": "DOID:14502",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14502",
                                "name": "partial LAL deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14502",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14502",
                                "name": "partial LIPA deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14502",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14502",
                                "name": "partial cholesterol ester hydrolase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14502",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14502",
                                "name": "partial lysosomal acid lipase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "cholesteryl ester storage disease",
                                "description": "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia."
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "LAL deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "LIPA deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "cholesterol ester hydrolase deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "cholesterol ester storage disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "lysosomal acid lipase deficiency, partial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019149",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019149",
                                "name": "CESD",
                                "description": ""
                            },
                            {
                                "id": "MIM:278000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/278000",
                                "name": "Cholesteryl ester storage disease",
                                "description": "Cholesteryl ester storage disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "14502",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14502"
                            },
                            {
                                "id": "14502",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14502"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:14497",
                        "recommended_name": {
                            "id": "DOID:14497",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:14497",
                            "name": "Wolman disease",
                            "description": "A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "Acid esterase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "Acid lipase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "Wolman xanthomatosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "Wolman's disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "Wolman's or triglyceride storage type III disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "Xanthomatosis, familial",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "acute infantile lysosomal acid lipase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "complete LAL deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "complete LIPA deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "complete cholesterol ester hydrolase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14497",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14497",
                                "name": "complete lysosomal acid lipase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019148",
                                "name": "Wolman disease",
                                "description": "Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues."
                            },
                            {
                                "id": "MONDO:0019148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019148",
                                "name": "lysosomal acid lipase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019148",
                                "name": "Wolman disease with hypolipoproteinemia and acanthocytosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019148",
                                "name": "Wolman's disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019148",
                                "name": "familial xanthomatosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019148",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019148",
                                "name": "liposomal acid lipase deficiency, Wolman type",
                                "description": ""
                            },
                            {
                                "id": "MIM:620151",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/620151",
                                "name": "Wolman disease",
                                "description": "Wolman disease"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "14497",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14497"
                            },
                            {
                                "id": "14497",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14497"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "P38571-1"
            }
        ],
        "record_id": "pubmed.8146180",
        "abstract": "",
        "glycosylation": [],
        "mutagenesis": [],
        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
            {
                "table_id": "referenced_proteins",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 19
                    }
                ],
                "sort_fields": [
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            {
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                "table_stats": [
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                ],
                "sort_fields": []
            },
            {
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                    {
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                    {
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                    {
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                ],
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            },
            {
                "table_id": "phosphorylation",
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            {
                "table_id": "glycosylation_reported",
                "table_stats": [
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                ],
                "sort_fields": []
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            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
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                    {
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        ]
    },
    {
        "title": "Molecular cloning and functional expression of human acyl-coenzyme A:cholesterol acyltransferase cDNA in mutant Chinese hamster ovary cells.",
        "journal": "The Journal of biological chemistry",
        "date": "1993",
        "authors": "Chang CC, Huh HY, Cadigan KM, Chang TY",
        "reference": {
            "type": "PubMed",
            "id": "8407899",
            "url": "https://pubmed.ncbi.nlm.nih.gov/8407899"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "O95782-1",
                "protein_name": "AP-2 complex subunit alpha-1",
                "gene_name": "AP2A1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P04114-1",
                "protein_name": "Apolipoprotein B-100",
                "gene_name": "APOB",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q86X29-1",
                "protein_name": "Lipolysis-stimulated lipoprotein receptor",
                "gene_name": "LSR",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P38571-1",
                "protein_name": "Lysosomal acid lipase/cholesteryl ester hydrolase",
                "gene_name": "LIPA",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O15118-1",
                "protein_name": "NPC intracellular cholesterol transporter 1",
                "gene_name": "NPC1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q6PIU2-1",
                "protein_name": "Neutral cholesterol ester hydrolase 1",
                "gene_name": "NCEH1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O75908-1",
                "protein_name": "Sterol O-acyltransferase 2",
                "gene_name": "SOAT2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P35610-1",
                "protein_name": "Sterol O-acyltransferase 1",
                "gene_name": "SOAT1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q00610-1",
                "protein_name": "Clathrin heavy chain 1",
                "gene_name": "CLTC",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P63010-1",
                "protein_name": "AP-2 complex subunit beta",
                "gene_name": "AP2B1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8NBP7-1",
                "protein_name": "Proprotein convertase subtilisin/kexin type 9",
                "gene_name": "PCSK9",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q5SW96-1",
                "protein_name": "Low density lipoprotein receptor adapter protein 1",
                "gene_name": "LDLRAP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P01130-1",
                "protein_name": "Low-density lipoprotein receptor",
                "gene_name": "LDLR",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q96CW1-1",
                "protein_name": "AP-2 complex subunit mu",
                "gene_name": "AP2M1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q6UWW8-1",
                "protein_name": "Carboxylesterase 3",
                "gene_name": "CES3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P09496-1",
                "protein_name": "Clathrin light chain A",
                "gene_name": "CLTA",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P61916-1",
                "protein_name": "NPC intracellular cholesterol transporter 2",
                "gene_name": "NPC2",
                "tax_name": "Human"
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