[
    {
        "title": "Immunohistochemical demonstration of alpha1,4-N-acetylglucosaminyltransferase that forms GlcNAcalpha1,4Galbeta residues in human gastrointestinal mucosa.",
        "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society",
        "date": "2001",
        "authors": "Zhang MX, Nakayama J, Hidaka E, Kubota S, Yan J, Ota H, Fukuda M",
        "reference": {
            "type": "PubMed",
            "id": "11304796",
            "url": "https://pubmed.ncbi.nlm.nih.gov/11304796"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "Q9H195-1",
                "protein_name": "Mucin-3B",
                "gene_name": "MUC3B",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q14435-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 3",
                "gene_name": "GALNT3",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q6P9A2-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 18",
                "gene_name": "GALNT18",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q86SR1-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 10",
                "gene_name": "GALNT10",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q8IXK2-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 12",
                "gene_name": "GALNT12",
                "tax_name": "Human"
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                "uniprot_canonical_ac": "Q8N428-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 16",
                "gene_name": "GALNT16",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8NCG5-1",
                "protein_name": "Carbohydrate sulfotransferase 4",
                "gene_name": "CHST4",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q9NY97-1",
                "protein_name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2",
                "gene_name": "B3GNT2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O43286-1",
                "protein_name": "Beta-1,4-galactosyltransferase 5",
                "gene_name": "B4GALT5",
                "tax_name": "Human"
            },
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                "tax_name": "Human"
            },
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            },
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            },
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                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q8NCL4-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 6",
                "gene_name": "GALNT6",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9HCQ5-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 9",
                "gene_name": "GALNT9",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q10472-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 1",
                "gene_name": "GALNT1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9NY28-1",
                "protein_name": "Probable polypeptide N-acetylgalactosaminyltransferase 8",
                "gene_name": "GALNT8",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q6IS24-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 17",
                "gene_name": "GALNT17",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q7Z7M9-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 5",
                "gene_name": "GALNT5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q10471-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 2",
                "gene_name": "GALNT2",
                "tax_name": "Human"
            },
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                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 4",
                "gene_name": "GALNT4",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q02817-1",
                "protein_name": "Mucin-2",
                "gene_name": "MUC2",
                "tax_name": "Human"
            },
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                "gene_name": "MUC7",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q8NCW6-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 11",
                "gene_name": "GALNT11",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q86SF2-1",
                "protein_name": "N-acetylgalactosaminyltransferase 7",
                "gene_name": "GALNT7",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q8IUC8-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 13",
                "gene_name": "GALNT13",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q96FL9-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 14",
                "gene_name": "GALNT14",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q02742-1",
                "protein_name": "Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase",
                "gene_name": "GCNT1",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q6UX72-1",
                "protein_name": "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9",
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                "tax_name": "Human"
            },
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                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q67FW5-1",
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                "gene_name": "QTGAL",
                "tax_name": "Human"
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                "tax_name": "Human"
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                "uniprot_canonical_ac": "Q8NFL0-1",
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                "gene_name": "B3GNT7",
                "tax_name": "Human"
            },
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            },
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                "protein_name": "Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase",
                "gene_name": "B3GNT5",
                "tax_name": "Human"
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                "protein_name": "Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1",
                "gene_name": "C1GALT1",
                "tax_name": "Human"
            },
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                "protein_name": "C1GALT1-specific chaperone 1",
                "gene_name": "C1GALT1C1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8N387-1",
                "protein_name": "Mucin-15",
                "gene_name": "MUC15",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8N307-1",
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                "gene_name": "MUC20",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9H3R2-1",
                "protein_name": "Mucin-13",
                "gene_name": "MUC13",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q7Z5P9-1",
                "protein_name": "Mucin-19",
                "gene_name": "MUC19",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q6W4X9-1",
                "protein_name": "Mucin-6",
                "gene_name": "MUC6",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q6ZMB0-1",
                "protein_name": "Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase",
                "gene_name": "B3GNT6",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9C0J1-1",
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                "gene_name": "B3GNT4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9P109-1",
                "protein_name": "Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4",
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                "tax_name": "Human"
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                "uniprot_canonical_ac": "Q49A17-1",
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                "gene_name": "GALNTL6",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "O95395-1",
                "protein_name": "Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3",
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                "name": "Homo sapiens",
                "taxid": 9606,
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        "record_id": "pubmed.11304796",
        "abstract": "",
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    {
        "title": "A unique molecular chaperone Cosmc required for activity of the mammalian core 1 beta 3-galactosyltransferase.",
        "journal": "Proceedings of the National Academy of Sciences of the United States of America",
        "date": "2002",
        "authors": "Ju T, Cummings RD",
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        "title": "Initiation of transcription of the MUC3A human intestinal mucin from a TATA-less promoter and comparison with the MUC3B amino terminus.",
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        "date": "2004",
        "authors": "Marcos NT, Pinho S, Grandela C, Cruz A, Samyn-Petit B, Harduin-Lepers A, Almeida R, Silva F, Morais V, Costa J, Kihlberg J, Clausen H, Reis CA",
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        "title": "A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.",
        "journal": "The Journal of clinical endocrinology and metabolism",
        "date": "2005",
        "authors": "Ichikawa S, Lyles KW, Econs MJ",
        "reference": {
            "type": "PubMed",
            "id": "15687324",
            "url": "https://pubmed.ncbi.nlm.nih.gov/15687324"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "Q9H195-1",
                "protein_name": "Mucin-3B",
                "gene_name": "MUC3B",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q14435-1",
                "protein_name": "Polypeptide N-acetylgalactosaminyltransferase 3",
                "gene_name": "GALNT3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q99102-1",
                "protein_name": "Mucin-4",
                "gene_name": "MUC4",
                "tax_name": "Human"
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            {
                "uniprot_canonical_ac": "Q96DR8-1",
                "protein_name": "Mucin-like protein 1",
                "gene_name": "MUCL1",
                "tax_name": "Human"
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            {
                "uniprot_canonical_ac": "P98088-1",
                "protein_name": "Mucin-5AC",
                "gene_name": "MUC5AC",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9HC84-1",
                "protein_name": "Mucin-5B",
                "gene_name": "MUC5B",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q02817-1",
                "protein_name": "Mucin-2",
                "gene_name": "MUC2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8TAX7-1",
                "protein_name": "Mucin-7",
                "gene_name": "MUC7",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8N387-1",
                "protein_name": "Mucin-15",
                "gene_name": "MUC15",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8N307-1",
                "protein_name": "Mucin-20",
                "gene_name": "MUC20",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9H3R2-1",
                "protein_name": "Mucin-13",
                "gene_name": "MUC13",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q7Z5P9-1",
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                "gene_name": "MUC19",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q6W4X9-1",
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                "tax_name": "Human"
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            {
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                "tax_name": "Human"
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            {
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                "tax_name": "Human"
            },
            {
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                "tax_name": "Human"
            },
            {
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                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P15941-1",
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            }
        ],
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                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
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            {
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q14435"
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                    },
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                ],
                "glycoeffect": [],
                "start_pos": 162,
                "end_pos": 162,
                "subjects_tested": "4799",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).",
                "chr_id": "2",
                "chr_pos": "165770217",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R162",
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                                "id": "DOID:0111063",
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                                "description": ""
                            },
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                                "id": "DOID:0111063",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111063",
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                                "description": ""
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                            {
                                "id": "DOID:0111063",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111063",
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                            {
                                "id": "DOID:0111063",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111063",
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                                "description": ""
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                            {
                                "id": "DOID:0111063",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111063",
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                                "description": ""
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                            {
                                "id": "DOID:0111063",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111063",
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                                "description": ""
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                            {
                                "id": "DOID:0111063",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111063",
                                "name": "tumoral calcinosis with hyperphosphatemia",
                                "description": ""
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                            {
                                "id": "MONDO:0100252",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100252",
                                "name": "tumoral calcinosis, hyperphosphatemic, familial, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100252",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100252",
                                "name": "HFTC",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100252",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100252",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0100252",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100252",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0100252",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100252",
                                "name": "Teutschlaender disease, familial",
                                "description": ""
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                            {
                                "id": "MONDO:0100252",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100252",
                                "name": "calcinosis, tumoral, with hyperphosphatemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100252",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100252",
                                "name": "hyperostosis-hyperphosphatemia syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100252",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100252",
                                "name": "tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1",
                                "description": ""
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                            {
                                "id": "MONDO:0100252",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100252",
                                "name": "tumoral calcinosis, Hyperphosphatemic, familial, 1",
                                "description": ""
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                            {
                                "id": "MONDO:0100252",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100252",
                                "name": "tumoral calcinosis, hyperphosphatemic, familial",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100252",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100252",
                                "name": "tumoral calcinosis, hyperphosphatemic, familial, 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0100252",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0100252",
                                "name": "tumoral calcinosis, primary Hyperphosphatemic",
                                "description": ""
                            },
                            {
                                "id": "MIM:211900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/211900",
                                "name": "Tumoral calcinosis, hyperphosphatemic, familial, 1",
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    {
        "title": "A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.",
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        "authors": "Chefetz I, Heller R, Galli-Tsinopoulou A, Richard G, Wollnik B, Indelman M, Koerber F, Topaz O, Bergman R, Sprecher E, Schoenau E",
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        "title": "Protein glycosylation: chaperone mutation in Tn syndrome.",
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        ],
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                "name": "Homo sapiens",
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        "record_id": "pubmed.16319059",
        "abstract": "",
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    {
        "title": "Comprehensive enzymatic characterization of glycosyltransferases with a beta3GT or beta4GT motif.",
        "journal": "Methods in enzymology",
        "date": "2006",
        "authors": "Togayachi A, Sato T, Narimatsu H",
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    {
        "title": "New mutations in C1GALT1C1 in individuals with Tn positive phenotype.",
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                            "name": "Tn polyagglutination syndrome",
                            "description": "A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24."
                        },
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                                "id": "DOID:0080520",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080520",
                                "name": "galactosyltransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010381",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010381",
                                "name": "Tn polyagglutination syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010381",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010381",
                                "name": "Tn polyagglutination syndrome",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010381",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010381",
                                "name": "Tn polyagglutination syndrome, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010381",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010381",
                                "name": "TNPS",
                                "description": ""
                            },
                            {
                                "id": "MIM:300622",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/300622",
                                "name": "Tn polyagglutination syndrome",
                                "description": "Tn polyagglutination syndrome"
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                                "database": "MIM",
                                "url": "https://www.omim.org/entry/300622"
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                            {
                                "id": "29071",
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                                "url": "https://glycosmos.org/glycogenes/show/29071#disease"
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                            {
                                "id": "0080520",
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                                "url": "https://www.alliancegenome.org/disease/DOID:0080520"
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                "name": "Homo sapiens",
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        ],
        "record_id": "pubmed.7655172",
        "abstract": "",
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    {
        "title": "Substrate specificities of three members of the human UDP-N-acetyl-alpha-D-galactosamine:Polypeptide N-acetylgalactosaminyltransferase family, GalNAc-T1, -T2, and -T3.",
        "journal": "The Journal of biological chemistry",
        "date": "1997",
        "authors": "Wandall HH, Hassan H, Mirgorodskaya E, Kristensen AK, Roepstorff P, Bennett EP, Nielsen PA, Hollingsworth MA, Burchell J, Taylor-Papadimitriou J, Clausen H",
        "reference": {
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                "name": "Homo sapiens",
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        "record_id": "pubmed.9394011",
        "abstract": "",
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    {
        "title": "Molecular cloning of a human cDNA encoding beta-1,4-galactosyltransferase with 37% identity to mammalian UDP-Gal:GlcNAc beta-1,4-galactosyltransferase.",
        "journal": "Proceedings of the National Academy of Sciences of the United States of America",
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        "authors": "Sato T, Furukawa K, Bakker H, Van den Eijnden DH, Van Die I",
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