[
    {
        "title": "Cloning and characterization of the human UDP-N-acetylglucosamine: alpha-1,3-D-mannoside beta-1,4-N-acetylglucosaminyltransferase IV-homologue (hGnT-IV-H) gene.",
        "journal": "Journal of human genetics",
        "date": "1999",
        "authors": "Furukawa T, Youssef EM, Yatsuoka T, Yokoyama T, Makino N, Inoue H, Fukushige S, Hoshi M, Hayashi Y, Sunamura M, Horii A",
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    {
        "title": "Suppression of tumor growth and metastasis in Mgat5-deficient mice.",
        "journal": "Nature medicine",
        "date": "2000",
        "authors": "Granovsky M, Fata J, Pawling J, Muller WJ, Khokha R, Dennis JW",
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        "title": "Differential biosynthesis of polysialic acid on neural cell adhesion molecule (NCAM) and oligosaccharide acceptors by three distinct alpha 2,8-sialyltransferases, ST8Sia IV (PST), ST8Sia II (STX), and ST8Sia III.",
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    {
        "title": "Human STX polysialyltransferase forms the embryonic form of the neural cell adhesion molecule. Tissue-specific expression, neurite outgrowth, and chromosomal localization in comparison with another polysialyltransferase, PST.",
        "journal": "The Journal of biological chemistry",
        "date": "1997",
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                "uniprot_canonical_ac": "O60513-1",
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                "uniprot_canonical_ac": "P61647-1",
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                "tax_name": "Human"
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            {
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            {
                "uniprot_canonical_ac": "O60909-1",
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                "uniprot_canonical_ac": "P15291-1",
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        "title": "Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.",
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        "authors": "Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, Le Merrer M, Seta N",
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                    {
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                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "MGAT2-congenital disorder of glycosylation",
                                "description": "MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21)."
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                            {
                                "id": "MONDO:0008908",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "CDG2A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "MGAT2-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "N-acetylglucosaminyltransferase 2 deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "carbohydrate deficient glycoprotein syndrome type IIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "congenital disorder of glycosylation type 2a",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "congenital disorder of glycosylation type IIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "CDG 2A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "CDGS2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "carbohydrate-deficient glycoprotein syndrome type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "congenital disorder of glycosylation, type IIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "mental retardation, Growth retardation, prominent columella, and open mouth",
                                "description": ""
                            },
                            {
                                "id": "MIM:212066",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/212066",
                                "name": "Congenital disorder of glycosylation 2A",
                                "description": "Congenital disorder of glycosylation 2A"
                            }
                        ],
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                            {
                                "id": "0050571",
                                "database": "AGR",
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                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0070253",
                        "recommended_name": {
                            "id": "DOID:0070253",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0070253",
                            "name": "congenital disorder of glycosylation type IIa",
                            "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3."
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                            {
                                "id": "DOID:0070253",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0070253",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070253",
                                "name": "CDG IIa",
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                            },
                            {
                                "id": "DOID:0070253",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070253",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0070253",
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                            },
                            {
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                                "url": "https://disease-ontology.org/term/DOID:0070253",
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                            },
                            {
                                "id": "DOID:0070253",
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                                "url": "https://disease-ontology.org/term/DOID:0070253",
                                "name": "congenital disorder of glycosylation, type IIa",
                                "description": ""
                            },
                            {
                                "id": "DOID:0070253",
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                                "url": "https://disease-ontology.org/term/DOID:0070253",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0070253",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0070253",
                                "name": "mental retardation, growth retardation, prominent columella, and open mouth",
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                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "MGAT2-congenital disorder of glycosylation",
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                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                            },
                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "N-acetylglucosaminyltransferase 2 deficiency",
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                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                            },
                            {
                                "id": "MONDO:0008908",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "congenital disorder of glycosylation type 2a",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
                                "name": "congenital disorder of glycosylation type IIa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                            {
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                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                                "id": "MONDO:0008908",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
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                                "url": "https://www.omim.org/entry/212066",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008908"
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                                "url": "https://www.omim.org/entry/212066"
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                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MGAT2/#!details"
                            },
                            {
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                ],
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                "uniprot_canonical_ac": "Q10469-1"
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                ],
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                "start_pos": 339,
                "end_pos": 339,
                "sequence_org": "C",
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                "chr_id": "14",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "C339",
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                            },
                            {
                                "id": "MONDO:0008908",
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                                "resource": "MONDO",
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                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                                "id": "MONDO:0008908",
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                            {
                                "id": "MONDO:0008908",
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                            {
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                                "id": "MONDO:0008908",
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                                "description": "Congenital disorder of glycosylation 2A"
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                    },
                    {
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                            {
                                "id": "MONDO:0008908",
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                            {
                                "id": "MONDO:0008908",
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                            {
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                            {
                                "id": "MONDO:0008908",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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        "title": "Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity.",
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                            {
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                            {
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                            {
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                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008908",
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                            },
                            {
                                "id": "MONDO:0008908",
                                "resource": "MONDO",
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                            {
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                                "id": "MONDO:0008908",
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                            {
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                ],
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        ],
        "record_id": "pubmed.20684000",
        "abstract": "",
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                ],
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                ],
                "sort_fields": []
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            {
                "table_id": "glycosylation_reported_with_glycan",
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        ]
    },
    {
        "title": "Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism.",
        "journal": "American journal of medical genetics. Part A",
        "date": "2012",
        "authors": "Alazami AM, Monies D, Meyer BF, Alzahrani F, Hashem M, Salih MA, Alkuraya FS",
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        ],
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            {
                "name": "Homo sapiens",
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            }
        ],
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                "chr_pos": "49621979",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K237",
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                            {
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                            {
                                "id": "MONDO:0008908",
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