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        "title": "Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.",
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                                "name": "hexosaminidase A deficiency",
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                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
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                                "description": ""
                            },
                            {
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                                "description": ""
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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        "title": "The human sperm protein PH-20 has hyaluronidase activity.",
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        "title": "beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.",
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    {
        "title": "Distribution of a pseudodeficiency allele among Tay-Sachs carriers.",
        "journal": "American journal of human genetics",
        "date": "1993-08",
        "authors": "Tomczak J, Boogen C, Grebner E E",
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                                "id": "MONDO:0012094",
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                            {
                                "id": "MONDO:0012094",
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                                "id": "MONDO:0012300",
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                                "id": "MONDO:0012300",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
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                            {
                                "id": "MONDO:0012470",
                                "resource": "MONDO",
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                                "id": "MONDO:0012470",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012470",
                                "name": "prostate cancer, hereditary, 7",
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                                "name": "prostate cancer, hereditary, 9",
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                                "id": "MONDO:0012597",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, 9",
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                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "prostate cancer, hereditary, type 9",
                                "description": ""
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                            {
                                "id": "MONDO:0012597",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012597",
                                "name": "HPC9",
                                "description": ""
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                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
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                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "HPC10",
                                "description": ""
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                            {
                                "id": "MONDO:0012620",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012620",
                                "name": "prostate cancer, hereditary, 10",
                                "description": ""
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                                "id": "MONDO:0012741",
                                "resource": "MONDO",
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                                "name": "prostate cancer, hereditary, 12",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
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                            {
                                "id": "MONDO:0012741",
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                                "name": "familial prostate cancer caused by mutation in EHBP1",
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                                "id": "MONDO:0012741",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
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                                "description": ""
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                                "id": "MONDO:0012741",
                                "resource": "MONDO",
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                                "description": ""
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                            {
                                "id": "MONDO:0012741",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012741",
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                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "MSMB familial prostate cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "familial prostate cancer caused by mutation in MSMB",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "prostate cancer, hereditary, type 13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012758",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012758",
                                "name": "HPC13",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "HPC11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012768",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012768",
                                "name": "prostate cancer, hereditary, 11",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "HPC14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012769",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012769",
                                "name": "prostate cancer, hereditary, 14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "HPC15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012770",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012770",
                                "name": "prostate cancer, hereditary, 15",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0700275",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0700275",
                                "name": "prostate cancer, hereditary",
                                "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents."
                            },
                            {
                                "id": "MIM:601518",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/601518",
                                "name": "Prostate cancer, hereditary, 1",
                                "description": "Prostate cancer, hereditary, 1"
                            },
                            {
                                "id": "MIM:610997",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610997",
                                "name": "Prostate cancer, hereditary, 9",
                                "description": "Prostate cancer, hereditary, 9"
                            },
                            {
                                "id": "MIM:611868",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611868",
                                "name": "Prostate cancer, hereditary, 12",
                                "description": "Prostate cancer, hereditary, 12"
                            },
                            {
                                "id": "MIM:611928",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611928",
                                "name": "Prostate cancer, hereditary, 13",
                                "description": "Prostate cancer, hereditary, 13"
                            },
                            {
                                "id": "MIM:611955",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611955",
                                "name": "Prostate cancer, hereditary, 11",
                                "description": "Prostate cancer, hereditary, 11"
                            },
                            {
                                "id": "MIM:176807",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/176807",
                                "name": "Prostate cancer",
                                "description": "Prostate cancer"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "10283",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10283"
                            }
                        ]
                    },
                    {
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                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
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                                "url": "https://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
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                        ],
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                                "id": "272800",
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                                "url": "https://www.omim.org/entry/272800"
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                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
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                    "ebi",
                    "germline"
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                "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000",
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        ],
        "record_id": "pubmed.8328470",
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        "glycation": [],
        "section_stats": [
            {
                "table_id": "referenced_proteins",
                "table_stats": [
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                ],
                "sort_fields": [
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                    "tax_name"
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            },
            {
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                ],
                "sort_fields": []
            },
            {
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                ],
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            {
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            {
                "table_id": "glycosylation_reported",
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            {
                "table_id": "glycosylation_reported_with_glycan",
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    },
    {
        "title": "Tay-Sachs genes in Acadians.",
        "journal": "American journal of human genetics",
        "date": "1993-09",
        "authors": "Thurmon T F",
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        ],
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                "chr_id": "15",
                "chr_pos": "72346579_72346582",
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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:0010100",
                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
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                            {
                                "id": "MONDO:0010100",
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                            {
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                            {
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                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:4795",
                        "recommended_name": {
                            "id": "DOID:4795",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4795",
                            "name": "GM2 gangliosidosis, AB variant",
                            "description": "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease AB variant",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4795",
                                "name": "Tay-Sachs disease, variant AB",
                                "description": ""
                            },
                            {
                                "id": "DOID:4795",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4795",
                                "name": "GM2 Activator Deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "Tay-Sachs disease AB variant",
                                "description": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
                            },
                            {
                                "id": "MONDO:0010099",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099",
                                "name": "hexosaminidase activator deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:272750",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272750",
                                "name": "GM2-gangliosidosis AB",
                                "description": "GM2-gangliosidosis AB"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0010099",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010099"
                            },
                            {
                                "id": "272750",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272750"
                            },
                            {
                                "id": "4795",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:4795"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000000100000000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "P06865-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs121907979",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907979"
                    },
                    {
                        "id": "rs121907979",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs121907979"
                    },
                    {
                        "id": "8490625",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8490625"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 39,
                "end_pos": 39,
                "sequence_org": "L",
                "sequence_mut": "R",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.",
                "chr_id": "15",
                "chr_pos": "72375857",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L39",
                "disease": [
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
                                "description": "GM2-gangliosidosis 1"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "272800",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/272800"
                            },
                            {
                                "id": "3073",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/3073#disease"
                            },
                            {
                                "id": "3320",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:3320"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "P06865-1"
            },
            {
                "evidence": [
                    {
                        "id": "P06865",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P06865"
                    },
                    {
                        "id": "rs121907966",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121907966"
                    },
                    {
                        "id": "rs121907966",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs121907966#frequency_tab"
                    },
                    {
                        "id": "rs121907966",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs121907966"
                    },
                    {
                        "id": "14566483",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/14566483"
                    },
                    {
                        "id": "1532289",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/1532289"
                    },
                    {
                        "id": "8490625",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/8490625"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 499,
                "end_pos": 499,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "C",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosylhydrolase).",
                "chr_id": "15",
                "chr_pos": "72345477",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R499",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:9460",
                            "DOID:5166",
                            "DOID:2021",
                            "DOID:4114"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:3320",
                        "recommended_name": {
                            "id": "DOID:3320",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:3320",
                            "name": "Tay-Sachs disease",
                            "description": "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3320",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "DOID:3320",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:3320",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay Sachs Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Tay-Sachs disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "disease, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "B variant GM2 gangliosidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "TSD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "gangliosidosis GM2, type 1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "hexosaminidase alpha-subunit deficiency (variant B)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "sphingolipidosis, Tay-Sachs",
                                "description": ""
                            },
                            {
                                "id": "MIM:272800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/272800",
                                "name": "GM2-gangliosidosis 1",
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        "title": "Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.",
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        "title": "Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.",
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        "title": "Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.",
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                                "description": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
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                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2 gangliosidosis, B, B1 variant",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "GM2-gangliosidosis, several forms",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0010100",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
                                "name": "Hex A pseudodeficiency",
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                            {
                                "id": "MONDO:0010100",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0010100",
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    {
        "title": "A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.",
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                            {
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        "title": "HYAL2, a human gene expressed in many cells, encodes a lysosomal hyaluronidase with a novel type of specificity.",
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        "date": "1998",
        "authors": "Lepperdinger G, Strobl B, Kreil G",
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