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                        "field": "total",
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                "table_id": "glycosylation_automatic_literature_mining",
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    },
    {
        "title": "A missense mutation (Ala334-->Thr) in exon 7 of the lipoprotein lipase gene in a case with type I hyperlipidemia.",
        "journal": "Biochemical and biophysical research communications",
        "date": "1993",
        "authors": "Kobayashi J, Sasaki N, Tashiro J, Inadera H, Saito Y, Yoshida S",
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                    {
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                    {
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                ],
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                ],
                "start_pos": 361,
                "end_pos": 361,
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQA->NQT).",
                "chr_id": "8",
                "chr_pos": "19959322",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "A361",
                "disease": [
                    {
                        "disease_id": "DOID:13809",
                        "recommended_name": {
                            "id": "DOID:13809",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:13809",
                            "name": "familial combined hyperlipidemia",
                            "description": ""
                        },
                        "synonyms": [
                            {
                                "id": "DOID:13809",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:13809",
                                "name": "familial multiple lipoprotein-type hyperlipidemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:13809",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:13809",
                                "name": "mixed hyperlipidaemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:13809",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:13809",
                                "name": "type IIb hyperlipoproteinemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:13809",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:13809",
                                "name": "hyperbetalipoproteinemia with prebetalipoproteinemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007759",
                                "name": "hyperlipidemia, familial combined, LPL related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007759",
                                "name": "combined hyperlipidemia, familial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007759",
                                "name": "FCHL",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007759",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007759",
                                "name": "hyperlipidemia, familial combined",
                                "description": ""
                            },
                            {
                                "id": "MIM:144250",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/144250",
                                "name": "Hyperlipidemia, familial combined, 3",
                                "description": "Hyperlipidemia, familial combined, 3"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "13809",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:13809"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:14118",
                        "recommended_name": {
                            "id": "DOID:14118",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:14118",
                            "name": "familial lipoprotein lipase deficiency",
                            "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:14118",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14118",
                                "name": "Fredrickson type I hyperlipoproteinemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:14118",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14118",
                                "name": "Fredrickson type I lipaemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:14118",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14118",
                                "name": "familial LPL deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:14118",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14118",
                                "name": "familial hyperlipoproteinemia type I",
                                "description": ""
                            },
                            {
                                "id": "DOID:14118",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14118",
                                "name": "hypercholesterinaemic xanthomatosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:14118",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14118",
                                "name": "hyperchylomicronemia",
                                "description": ""
                            },
                            {
                                "id": "DOID:14118",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:14118",
                                "name": "mixed hyperglyceridemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "familial lipoprotein lipase deficiency",
                                "description": "Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines."
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "familial chylomicronemia syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "hyperlipoproteinemia type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "hyperlipoproteinemia, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "hyperlipoproteinemia, type I",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "type I hyperlipoproteinemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "LPL deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "familial lipoprotein lipase deficiency (disorder) [ambiguous]",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "familial lipoprotein lipase deficiency with type I phenotype",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "high density lipoprotein cholesterol level QTL 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "hyperchylomicronemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "Burger-Grutz syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "endogenous hypertriglyceridaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "familial fat-induced hypertriglyceridemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "familial hyperchylomicronemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009387",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009387",
                                "name": "lipoprotein lipase deficiency, familial",
                                "description": ""
                            },
                            {
                                "id": "MIM:238600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/238600",
                                "name": "Hyperlipoproteinemia 1",
                                "description": "Hyperlipoproteinemia 1"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "14118",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:14118"
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        ]
    },
    {
        "title": "A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity.",
        "journal": "Biochemical and biophysical research communications",
        "date": "1994",
        "authors": "Pepe G, Chimienti G, Resta F, Di Perna V, Tarricone C, Lovecchio M, Colacicco AM, Capurso A",
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