[
    {
        "title": "Specific inhibition of type I and type II collagen fibrillogenesis by the small proteoglycan of tendon.",
        "journal": "The Biochemical journal",
        "date": "1984",
        "authors": "Vogel KG, Paulsson M, Heinegard D",
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            "url": "https://pubmed.ncbi.nlm.nih.gov/6439184"
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        "title": "Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.",
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        "authors": "Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ",
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        "title": "Solid-phase von Willebrand factor contains a conformationally active RGD motif that mediates endothelial cell adhesion through the alpha v beta 3 receptor.",
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        "title": "Integrin alpha v beta 8. Interaction with vitronectin and functional divergence of the beta 8 cytoplasmic domain.",
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        "title": "CD31/PECAM-1 is a ligand for alpha v beta 3 integrin involved in adhesion of leukocytes to endothelium.",
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    {
        "title": "Release of biological activities from quiescent fibronectin by a conformational change and limited proteolysis by matrix metalloproteinases.",
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    {
        "title": "Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).",
        "journal": "Nature genetics",
        "date": "1995",
        "authors": "Ahn J, Ludecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE",
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                        "count": 0
                    },
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                        "field": "o_linked_glycan_sites",
                        "count": 0
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                    {
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                        "count": 0
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                    {
                        "field": "o_linked_glycans",
                        "count": 0
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                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "The human integrin alpha 8 beta 1 functions as a receptor for tenascin, fibronectin, and vitronectin.",
        "journal": "The Journal of biological chemistry",
        "date": "1995",
        "authors": "Schnapp LM, Hatch N, Ramos DM, Klimanskaya IV, Sheppard D, Pytela R",
        "reference": {
            "type": "PubMed",
            "id": "7559467",
            "url": "https://pubmed.ncbi.nlm.nih.gov/7559467"
        },
        "referenced_glycans": [],
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                "tax_name": "Human"
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                "protein_name": "Lumican",
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                "tax_name": "Human"
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                "protein_name": "Collagen alpha-1(I) chain",
                "gene_name": "COL1A1",
                "tax_name": "Human"
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                "protein_name": "Integrin beta-5",
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                "tax_name": "Human"
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                "protein_name": "Fibrinogen alpha chain",
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                "tax_name": "Human"
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                "protein_name": "Fibronectin",
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                "tax_name": "Human"
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                "protein_name": "Biglycan",
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                "tax_name": "Human"
            },
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                "protein_name": "Tenascin-R",
                "gene_name": "TNR",
                "tax_name": "Human"
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                "uniprot_canonical_ac": "Q9UQP3-1",
                "protein_name": "Tenascin-N",
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                "tax_name": "Human"
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                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "P51884-1",
                "protein_name": "Lumican",
                "gene_name": "LUM",
                "tax_name": "Human"
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                "uniprot_canonical_ac": "P02452-1",
                "protein_name": "Collagen alpha-1(I) chain",
                "gene_name": "COL1A1",
                "tax_name": "Human"
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                "protein_name": "Integrin beta-5",
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                "tax_name": "Human"
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                "protein_name": "Fibrinogen alpha chain",
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                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "O00468-1",
                "protein_name": "Agrin",
                "gene_name": "AGRN",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "P02751-15",
                "protein_name": "Fibronectin",
                "gene_name": "FN1",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "P21810-1",
                "protein_name": "Biglycan",
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                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q92752-1",
                "protein_name": "Tenascin-R",
                "gene_name": "TNR",
                "tax_name": "Human"
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                "uniprot_canonical_ac": "Q9UQP3-1",
                "protein_name": "Tenascin-N",
                "gene_name": "TNN",
                "tax_name": "Human"
            },
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                "uniprot_canonical_ac": "Q08722-1",
                "protein_name": "Leukocyte surface antigen CD47",
                "gene_name": "CD47",
                "tax_name": "Human"
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                "uniprot_canonical_ac": "P53420-1",
                "protein_name": "Collagen alpha-4(IV) chain",
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                "tax_name": "Human"
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                "uniprot_canonical_ac": "P02679-1",
                "protein_name": "Fibrinogen gamma chain",
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                "tax_name": "Human"
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                "protein_name": "Collagen alpha-1(XXIII) chain",
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                "tax_name": "Human"
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                "uniprot_canonical_ac": "Q06828-1",
                "protein_name": "Fibromodulin",
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                "protein_name": "Integrin alpha-L",
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                "tax_name": "Human"
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                "protein_name": "Basigin",
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                "protein_name": "Amyloid-beta precursor protein",
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                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
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    {
        "title": "Binding of pentraxins to different nuclear structures: C-reactive protein binds to small nuclear ribonucleoprotein particles, serum amyloid P component binds to chromatin and nucleoli.",
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        "authors": "Pepys MB, Booth SE, Tennent GA, Butler PJ, Williams DG",
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    {
        "title": "Platelet adhesion to collagen types I through VIII under conditions of stasis and flow is mediated by GPIa/IIa (alpha 2 beta 1-integrin).",
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                            },
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                                "id": "MIM:133700",
                                "resource": "MIM",
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                                "name": "Hereditary multiple exostoses 1",
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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    {
        "title": "Dystroglycan is a dual receptor for agrin and laminin-2 in Schwann cell membrane.",
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        "date": "1996-09-20",
        "authors": "Yamada H, Denzer A J, Hori H, Tanaka T, Anderson L V, Fujita S, Fukuta-Ohi H, Shimizu T, Ruegg M A, Matsumura K",
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    {
        "title": "Differential effects of the integrins alpha9beta1, alphavbeta3, and alphavbeta6 on cell proliferative responses to tenascin. Roles of the beta subunit extracellular and cytoplasmic domains.",
        "journal": "The Journal of biological chemistry",
        "date": "1996",
        "authors": "Yokosaki Y, Monis H, Chen J, Sheppard D",
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        "title": "Positional cloning of a gene involved in hereditary multiple exostoses.",
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        "title": "Osteopontin N-terminal domain contains a cryptic adhesive sequence recognized by alpha9beta1 integrin.",
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            "url": "https://pubmed.ncbi.nlm.nih.gov/8981950"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "P98160-1",
                "protein_name": "Basement membrane-specific heparan sulfate proteoglycan core protein",
                "gene_name": "HSPG2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O75056-1",
                "protein_name": "Syndecan-3",
                "gene_name": "SDC3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O00468-1",
                "protein_name": "Agrin",
                "gene_name": "AGRN",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P51654-1",
                "protein_name": "Glypican-3",
                "gene_name": "GPC3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P18827-1",
                "protein_name": "Syndecan-1",
                "gene_name": "SDC1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P31431-1",
                "protein_name": "Syndecan-4",
                "gene_name": "SDC4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9Y625-1",
                "protein_name": "Glypican-6",
                "gene_name": "GPC6",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8N158-1",
                "protein_name": "Glypican-2",
                "gene_name": "GPC2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P34741-1",
                "protein_name": "Syndecan-2",
                "gene_name": "SDC2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q16394-1",
                "protein_name": "Exostosin-1",
                "gene_name": "EXT1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P78333-1",
                "protein_name": "Glypican-5",
                "gene_name": "GPC5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P35052-1",
                "protein_name": "Glypican-1",
                "gene_name": "GPC1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O75487-1",
                "protein_name": "Glypican-4",
                "gene_name": "GPC4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q93063-1",
                "protein_name": "Exostosin-2",
                "gene_name": "EXT2",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P98160",
                        "url": "https://www.uniprot.org/uniprotkb/P98160"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs2130043564",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2130043564"
                    },
                    {
                        "id": "8981950",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8981950"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 141,
                "end_pos": 141,
                "sequence_org": "S",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
                "chr_id": "8",
                "chr_pos": "118110629_118110632",
                "ref_nt": "p",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S141",
                "disease": [
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
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                            "url": "https://disease-ontology.org/term/DOID:206",
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                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.10.000.001",
                "uniprot_canonical_ac": "Q16394-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs587776540",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs587776540"
                    },
                    {
                        "id": "8981950",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8981950"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 177,
                "end_pos": 177,
                "sequence_org": "K",
                "sequence_mut": "null",
                "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
                "chr_id": "8",
                "chr_pos": "118110513_118110520",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K177",
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                    {
                        "disease_id": "DOID:3371",
                        "recommended_name": {
                            "id": "DOID:3371",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3371",
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                            "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3371",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3371",
                                "name": "Cartilaginous cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:3371",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3371",
                                "name": "chondrosarcoma of bone",
                                "description": ""
                            },
                            {
                                "id": "DOID:3371",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3371",
                                "name": "primary chondrosarcoma of the bone",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma",
                                "description": "A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion."
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma (disease)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma, malignant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma of bone",
                                "description": ""
                            },
                            {
                                "id": "MIM:215300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/215300",
                                "name": "Chondrosarcoma",
                                "description": "Chondrosarcoma"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "3371",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3371"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ],
                "filter_code": "000000000001000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "Q16394-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs2130042099",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2130042099"
                    },
                    {
                        "id": "8981950",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8981950"
                    },
                    {
                        "id": "rs2130042109",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs2130042109"
                    }
                ],
                "glycoeffect": [
                    "o-glyco-site-loss"
                ],
                "start_pos": 238,
                "end_pos": 238,
                "sequence_org": "S",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
                "chr_id": "8",
                "chr_pos": "118110334",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S238",
                "keywords": [
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                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:206",
                            "name": "hereditary multiple exostoses",
                            "description": "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "Multiple congenital exostosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
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        "title": "The permeabilizing ATP receptor, P2X7. Cloning and expression of a human cDNA.",
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        "title": "Hydrolysis of a broad spectrum of extracellular matrix proteins by human macrophage elastase.",
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        "title": "Degradation of decorin by matrix metalloproteinases: identification of the cleavage sites, kinetic analyses and transforming growth factor-beta1 release.",
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        "title": "Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.",
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                "gene_name": "GPC1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O75487-1",
                "protein_name": "Glypican-4",
                "gene_name": "GPC4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q93063-1",
                "protein_name": "Exostosin-2",
                "gene_name": "EXT2",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "P98160",
                        "url": "https://www.uniprot.org/uniprotkb/P98160"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs119103288",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103288"
                    },
                    {
                        "id": "rs119103288",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs119103288"
                    },
                    {
                        "id": "9326317",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9326317"
                    },
                    {
                        "id": "9620772",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9620772"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 339,
                "end_pos": 339,
                "sequence_org": "G",
                "sequence_mut": "D",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
                "chr_id": "8",
                "chr_pos": "117837148",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "G339",
                "disease": [
                    {
                        "disease_id": "DOID:206",
                        "recommended_name": {
                            "id": "DOID:206",
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                            "url": "https://disease-ontology.org/term/DOID:206",
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                        },
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "Osteochondromatosis syndrome",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses (Multiple) 2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
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                        ]
                    }
                ],
                "keywords": [
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                    "germline",
                    "disease"
                ],
                "filter_code": "000000010000000000000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "Q16394-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs119103290",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119103290"
                    },
                    {
                        "id": "rs119103290",
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                        "url": "https://www.ensembl.org/id/rs119103290"
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                    {
                        "id": "9326317",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9326317"
                    },
                    {
                        "id": "9620772",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9620772"
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                ],
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                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
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                "alt_nt": "null",
                "minor_allelic_frequency": "",
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                        "disease_id": "DOID:3371",
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                            "url": "https://disease-ontology.org/term/DOID:3371",
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                        },
                        "synonyms": [
                            {
                                "id": "DOID:3371",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3371",
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                                "description": ""
                            },
                            {
                                "id": "DOID:3371",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3371",
                                "name": "chondrosarcoma of bone",
                                "description": ""
                            },
                            {
                                "id": "DOID:3371",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3371",
                                "name": "primary chondrosarcoma of the bone",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma",
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                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma (disease)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma, malignant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma of bone",
                                "description": ""
                            },
                            {
                                "id": "MIM:215300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/215300",
                                "name": "Chondrosarcoma",
                                "description": "Chondrosarcoma"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "3371",
                                "database": "AGR",
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                            }
                        ]
                    },
                    {
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
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                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple caused by mutation in EXT2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "EXT3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
                            },
                            {
                                "id": "MIM:133701",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133701",
                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
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                                "id": "206",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:206"
                            },
                            {
                                "id": "206",
                                "database": "AGR",
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                    }
                ],
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                    "disease"
                ],
                "filter_code": "010000000000000000000.00000000000000.000000000001000000.00101.11.000.000",
                "uniprot_canonical_ac": "Q16394-1"
            },
            {
                "evidence": [
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                    },
                    {
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                    {
                        "id": "rs121918280",
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                    },
                    {
                        "id": "rs121918280",
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                    {
                        "id": "19344451",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/19344451"
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                    {
                        "id": "30288735",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/30288735"
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                    {
                        "id": "9326317",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9326317"
                    },
                    {
                        "id": "rs121918280",
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                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs121918280"
                    }
                ],
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                "start_pos": 227,
                "end_pos": 227,
                "subjects_tested": "1704",
                "subjects_positive": "1",
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                "sequence_org": "D",
                "sequence_mut": "N",
                "comment": "Somatic mutation passed 2 filters: n-glyco-sequon-gain (DVS->NVS); protein-of-interest(glycogene, glycosyltransferase).",
                "chr_id": "11",
                "chr_pos": "44114237",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "D227",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
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        "title": "Molecular cloning and expression of mouse and human cDNAs encoding heparan sulfate D-glucosaminyl 3-O-sulfotransferase.",
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                        "field": "o_linked_sites",
                        "count": 0
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                    {
                        "field": "n_linked_glycan_sites",
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                    {
                        "field": "o_linked_glycan_sites",
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                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
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                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
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                    {
                        "field": "total_sites",
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                    },
                    {
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                    {
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                    {
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                    {
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                    {
                        "field": "n_linked_glycans",
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                    {
                        "field": "o_linked_glycans",
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_predicted",
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                        "field": "total",
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                    {
                        "field": "total_sites",
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                    {
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                    {
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                    {
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                    {
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                ],
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        ]
    },
    {
        "title": "The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate.",
        "journal": "Nature genetics",
        "date": "1998",
        "authors": "McCormick C, Leduc Y, Martindale D, Mattison K, Esford LE, Dyer AP, Tufaro F",
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            "type": "PubMed",
            "id": "9620772",
            "url": "https://pubmed.ncbi.nlm.nih.gov/9620772"
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            {
                "uniprot_canonical_ac": "O75056-1",
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            {
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            {
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            {
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                "tax_name": "Human"
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            {
                "uniprot_canonical_ac": "P31431-1",
                "protein_name": "Syndecan-4",
                "gene_name": "SDC4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9Y625-1",
                "protein_name": "Glypican-6",
                "gene_name": "GPC6",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8N158-1",
                "protein_name": "Glypican-2",
                "gene_name": "GPC2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P34741-1",
                "protein_name": "Syndecan-2",
                "gene_name": "SDC2",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q16394-1",
                "protein_name": "Exostosin-1",
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                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P78333-1",
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                "gene_name": "GPC5",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P35052-1",
                "protein_name": "Glypican-1",
                "gene_name": "GPC1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "O75487-1",
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                "gene_name": "GPC4",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q93063-1",
                "protein_name": "Exostosin-2",
                "gene_name": "EXT2",
                "tax_name": "Human"
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        ],
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            {
                "name": "Homo sapiens",
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                    {
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                ],
                "common_name": "Human",
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                "reference_species": "Homo sapiens [9606]"
            }
        ],
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            {
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                    {
                        "id": "rs119103288",
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                    },
                    {
                        "id": "rs119103288",
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                        "url": "https://www.ensembl.org/id/rs119103288"
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                        "id": "9326317",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/9326317"
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                        "id": "9620772",
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                ],
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                "sequence_mut": "D",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
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                            {
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                            {
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                            {
                                "id": "DOID:206",
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                            {
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                            {
                                "id": "DOID:206",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
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                            {
                                "id": "MONDO:0007585",
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                            {
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                            {
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
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                            },
                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
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                            {
                                "id": "MONDO:0007586",
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                                "name": "exostoses, multiple, type 2",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type III",
                                "description": ""
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                            {
                                "id": "MONDO:0010846",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010846",
                                "name": "exostoses, multiple, type 3",
                                "description": ""
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                            {
                                "id": "MIM:133700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/133700",
                                "name": "Hereditary multiple exostoses 1",
                                "description": "Hereditary multiple exostoses 1"
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                                "name": "Hereditary multiple exostoses 2",
                                "description": "Hereditary multiple exostoses 2"
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                                "id": "DOID:3371",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3371",
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                                "description": ""
                            },
                            {
                                "id": "DOID:3371",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3371",
                                "name": "chondrosarcoma of bone",
                                "description": ""
                            },
                            {
                                "id": "DOID:3371",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3371",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
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                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma (disease)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
                                "name": "chondrosarcoma, malignant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
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                                "description": ""
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                            {
                                "id": "MONDO:0008977",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0008977",
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                                "description": ""
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                            {
                                "id": "MIM:215300",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/215300",
                                "name": "Chondrosarcoma",
                                "description": "Chondrosarcoma"
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                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
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                                "name": "Multiple exostosis syndromes",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
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                                "description": ""
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                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 1",
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                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 2",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "hereditary multiple exostoses 3",
                                "description": ""
                            },
                            {
                                "id": "DOID:206",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:206",
                                "name": "multiple ostechondromas",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene."
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT1 exostoses, multiple",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple caused by mutation in EXT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "exostoses, multiple, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007585",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007585",
                                "name": "EXT",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "exostoses, multiple, type 2",
                                "description": "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes."
                            },
                            {
                                "id": "MONDO:0007586",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007586",
                                "name": "EXT2 Gene",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0007586",
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