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    {
        "title": "Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia.",
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    {
        "title": "Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.",
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        "authors": "Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T",
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    {
        "title": "Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.",
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                "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NCS->NC*); glycogene of type=glycogene, miscellaneous.",
                "chr_id": "12",
                "chr_pos": "101760106",
                "ref_nt": "C",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "S1058",
                "disease": [
                    {
                        "disease_id": "DOID:0080070",
                        "recommended_name": {
                            "id": "DOID:0080070",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080070",
                            "name": "mucolipidosis II alpha/beta",
                            "description": "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "mucolipidosis II",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "inclusion-cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly."
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I Cell Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I-cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1-phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "GNPTA",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "Leroy disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "ML 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "ML disorder type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "inclusion cell disease",
                                "description": ""
                            },
                            {
                                "id": "MIM:252500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252500",
                                "name": "Mucolipidosis type II",
                                "description": "Mucolipidosis type II"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0009650",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650"
                            },
                            {
                                "id": "252500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252500"
                            },
                            {
                                "id": "79158",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/79158#disease"
                            },
                            {
                                "id": "0080070",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080070"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000000000000100000.00000000000000.000000000001000000.00001.10.000.011",
                "uniprot_canonical_ac": "Q3T906-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs137852896",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852896"
                    },
                    {
                        "id": "rs137852896",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852896"
                    },
                    {
                        "id": "rs137852896",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs137852896#frequency_tab"
                    },
                    {
                        "id": "rs137852896",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs137852896"
                    },
                    {
                        "id": "16116615",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16116615"
                    }
                ],
                "glycoeffect": [],
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                "end_pos": 104,
                "sequence_org": "Q",
                "sequence_mut": "*",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, miscellaneous.",
                "chr_id": "12",
                "chr_pos": "101789951",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "Q104",
                "disease": [
                    {
                        "disease_id": "DOID:0080070",
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                            "id": "DOID:0080070",
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                            "url": "https://disease-ontology.org/term/DOID:0080070",
                            "name": "mucolipidosis II alpha/beta",
                            "description": "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "I-cell disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "mucolipidosis II",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "inclusion-cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly."
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I Cell Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I-cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1-phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "GNPTA",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "Leroy disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "ML 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "ML disorder type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "inclusion cell disease",
                                "description": ""
                            },
                            {
                                "id": "MIM:252500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252500",
                                "name": "Mucolipidosis type II",
                                "description": "Mucolipidosis type II"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0009650",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650"
                            },
                            {
                                "id": "252500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252500"
                            },
                            {
                                "id": "79158",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/79158#disease"
                            },
                            {
                                "id": "0080070",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080070"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080071",
                        "recommended_name": {
                            "id": "DOID:0080071",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080071",
                            "name": "mucolipidosis III alpha/beta",
                            "description": "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080071",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080071",
                                "name": "mucolipidosis III",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080071",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080071",
                                "name": "pseudo-Hurler polydystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis type III, alpha/beta",
                                "description": "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients."
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML 3 alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML III alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "MLIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "Pseudo Hurler Polydystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis type 3 alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "pseudo-Hurler polydystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML 3 A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis type 3A",
                                "description": ""
                            },
                            {
                                "id": "MIM:252600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252600",
                                "name": "Mucolipidosis type III complementation group A",
                                "description": "Mucolipidosis type III complementation group A"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0018931",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931"
                            },
                            {
                                "id": "252600",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252600"
                            },
                            {
                                "id": "79158",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/79158#disease"
                            },
                            {
                                "id": "0080071",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080071"
                            }
                        ]
                    }
                ],
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                    "germline",
                    "disease"
                ],
                "filter_code": "000000100000000000000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "Q3T906-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs281865038",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs281865038"
                    },
                    {
                        "id": "16116615",
                        "database": "PubMed",
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                    }
                ],
                "glycoeffect": [],
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                "end_pos": 1158,
                "sequence_org": "H",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, miscellaneous.",
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                "chr_pos": "101753500_101753501",
                "ref_nt": "l",
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                    {
                        "disease_id": "DOID:0080070",
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                            "url": "https://disease-ontology.org/term/DOID:0080070",
                            "name": "mucolipidosis II alpha/beta",
                            "description": "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "mucolipidosis II",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "inclusion-cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly."
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I Cell Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I-cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1-phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "Leroy disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "ML 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "ML disorder type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "inclusion cell disease",
                                "description": ""
                            },
                            {
                                "id": "MIM:252500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252500",
                                "name": "Mucolipidosis type II",
                                "description": "Mucolipidosis type II"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0009650",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650"
                            },
                            {
                                "id": "252500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252500"
                            },
                            {
                                "id": "79158",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/79158#disease"
                            },
                            {
                                "id": "0080070",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080070"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "filter_code": "000000001000000000000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "Q3T906-1"
            },
            {
                "evidence": [
                    {
                        "id": "Q3T906",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q3T906"
                    },
                    {
                        "id": "rs137852897",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852897"
                    },
                    {
                        "id": "rs137852897",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs137852897"
                    },
                    {
                        "id": "rs137852897",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs137852897#frequency_tab"
                    },
                    {
                        "id": "rs137852897",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs137852897"
                    },
                    {
                        "id": "16116615",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16116615"
                    },
                    {
                        "id": "19197337",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/19197337"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1189,
                "end_pos": 1189,
                "subjects_tested": "4484",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "R",
                "sequence_mut": "*",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, miscellaneous).",
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                "chr_pos": "101753409",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "R1189",
                "disease": [
                    {
                        "disease_id": "DOID:1612",
                        "recommended_name": {
                            "id": "DOID:1612",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:1612",
                            "name": "breast cancer",
                            "description": "An organ system cancer that originates in the mammary gland."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "breast tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "malignant neoplasm of breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "malignant tumor of the breast",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "mammary cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "mammary tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:1612",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:1612",
                                "name": "primary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, lobular, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, protection against, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, somatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "familial cancer of the breast",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast cancer",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0016419",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0016419",
                                "name": "hereditary breast carcinoma",
                                "description": ""
                            },
                            {
                                "id": "MIM:114480",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/114480",
                                "name": "Breast cancer",
                                "description": "Breast cancer"
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:3017",
                            "DOID:0050938"
                        ],
                        "evidence": [
                            {
                                "id": "1612",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:1612"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080070",
                        "recommended_name": {
                            "id": "DOID:0080070",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080070",
                            "name": "mucolipidosis II alpha/beta",
                            "description": "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "I-cell disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "mucolipidosis II",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "inclusion-cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly."
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I Cell Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I-cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1-phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "GNPTA",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "Leroy disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "ML 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "ML disorder type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "inclusion cell disease",
                                "description": ""
                            },
                            {
                                "id": "MIM:252500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252500",
                                "name": "Mucolipidosis type II",
                                "description": "Mucolipidosis type II"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0009650",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650"
                            },
                            {
                                "id": "252500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252500"
                            },
                            {
                                "id": "79158",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/79158#disease"
                            },
                            {
                                "id": "0080070",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080070"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080071",
                        "recommended_name": {
                            "id": "DOID:0080071",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080071",
                            "name": "mucolipidosis III alpha/beta",
                            "description": "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080071",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080071",
                                "name": "mucolipidosis III",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080071",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080071",
                                "name": "pseudo-Hurler polydystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis type III, alpha/beta",
                                "description": "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients."
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML 3 alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML III alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "MLIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "Pseudo Hurler Polydystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis type 3 alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis type III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "pseudo-Hurler polydystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML 3 A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis type 3A",
                                "description": ""
                            },
                            {
                                "id": "MIM:252600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252600",
                                "name": "Mucolipidosis type III complementation group A",
                                "description": "Mucolipidosis type III complementation group A"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "0018931",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931"
                            },
                            {
                                "id": "252600",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252600"
                            },
                            {
                                "id": "79158",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/79158#disease"
                            },
                            {
                                "id": "0080071",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080071"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ],
                "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "Q3T906-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs281865029",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs281865029"
                    },
                    {
                        "id": "16116615",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16116615"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 859,
                "end_pos": 859,
                "sequence_org": "N",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, miscellaneous.",
                "chr_id": "12",
                "chr_pos": "101764343CT",
                "ref_nt": "]",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N859",
                "disease": [
                    {
                        "disease_id": "DOID:0080070",
                        "recommended_name": {
                            "id": "DOID:0080070",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080070",
                            "name": "mucolipidosis II alpha/beta",
                            "description": "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene."
                        },
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                            {
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                                "description": ""
                            },
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "mucolipidosis II",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly."
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I Cell Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I-cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1-phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
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                                "description": ""
                            },
                            {
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                            },
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
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                                "description": ""
                            },
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252500",
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                    },
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                            "url": "https://disease-ontology.org/term/DOID:0080071",
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                            },
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                            },
                            {
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                            },
                            {
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                            {
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                            {
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                            {
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
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                            {
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                            },
                            {
                                "id": "MONDO:0018931",
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                                "resource": "MONDO",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
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                "uniprot_canonical_ac": "Q3T906-1"
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                "end_pos": 894,
                "sequence_org": "W",
                "sequence_mut": "*",
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                "chr_id": "12",
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                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "W894",
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                            {
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                            {
                                "id": "MONDO:0018931",
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                            {
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                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene.",
        "journal": "American journal of human genetics",
        "date": "2006",
        "authors": "Kudo M, Brem MS, Canfield WM",
        "reference": {
            "type": "PubMed",
            "id": "16465621",
            "url": "https://pubmed.ncbi.nlm.nih.gov/16465621"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "Q3T906-1",
                "protein_name": "N-acetylglucosamine-1-phosphotransferase subunits alpha/beta",
                "gene_name": "GNPTAB",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q3T906",
                        "url": "https://www.uniprot.org/uniprotkb/Q3T906"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "rs34002892",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34002892"
                    },
                    {
                        "id": "16465621",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16465621"
                    },
                    {
                        "id": "18190596",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/18190596"
                    },
                    {
                        "id": "19659762",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/19659762"
                    },
                    {
                        "id": "20880125",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/20880125"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 1168,
                "end_pos": 1168,
                "sequence_org": "L",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, miscellaneous.",
                "chr_id": "12",
                "chr_pos": "101753470GA",
                "ref_nt": "]",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "L1168",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:0080070",
                        "recommended_name": {
                            "id": "DOID:0080070",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080070",
                            "name": "mucolipidosis II alpha/beta",
                            "description": "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "I-cell disease",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "mucolipidosis II",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "inclusion-cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly."
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I Cell Disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I-cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1-phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "GNPTA",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "Leroy disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "ML 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "ML disorder type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "inclusion cell disease",
                                "description": ""
                            },
                            {
                                "id": "MIM:252500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252500",
                                "name": "Mucolipidosis type II",
                                "description": "Mucolipidosis type II"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "0009650",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650"
                            },
                            {
                                "id": "252500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252500"
                            },
                            {
                                "id": "79158",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/79158#disease"
                            },
                            {
                                "id": "0080070",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080070"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0080071",
                        "recommended_name": {
                            "id": "DOID:0080071",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080071",
                            "name": "mucolipidosis III alpha/beta",
                            "description": "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080071",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080071",
                                "name": "mucolipidosis III",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080071",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080071",
                                "name": "pseudo-Hurler polydystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis type III, alpha/beta",
                                "description": "Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients."
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis III",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML 3 alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML III alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "MLIII",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "Pseudo Hurler Polydystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis type 3 alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "ML 3 A",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0018931",
                                "name": "mucolipidosis type 3A",
                                "description": ""
                            },
                            {
                                "id": "MIM:252600",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252600",
                                "name": "Mucolipidosis type III complementation group A",
                                "description": "Mucolipidosis type III complementation group A"
                            }
                        ],
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                            {
                                "id": "252600",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252600"
                            },
                            {
                                "id": "79158",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/79158#disease"
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                            {
                                "id": "0080071",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080071"
                            }
                        ]
                    }
                ],
                "filter_code": "000000000010000000000.00000000000000.000000000001000000.00001.10.000.000",
                "uniprot_canonical_ac": "Q3T906-1"
            },
            {
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                    {
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                    {
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                    },
                    {
                        "id": "rs34159654",
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                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs34159654"
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                    {
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                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs34159654"
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                        "id": "16465621",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/16465621"
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                ],
                "glycoeffect": [],
                "start_pos": 4,
                "end_pos": 4,
                "sequence_org": "K",
                "sequence_mut": "Q",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, miscellaneous.",
                "chr_id": "12",
                "chr_pos": "101830666",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "K4",
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                    {
                        "disease_id": "DOID:0080070",
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                            "id": "DOID:0080070",
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                            "url": "https://disease-ontology.org/term/DOID:0080070",
                            "name": "mucolipidosis II alpha/beta",
                            "description": "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
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                                "description": ""
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                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
                                "name": "mucolipidosis II",
                                "description": ""
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                            {
                                "id": "DOID:0080070",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080070",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly."
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I-cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1-phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "mucolipidosis type II alpha/beta",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "GNPTA",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "I cell disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "Leroy disease",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "ML 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "ML disorder type 2",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "N-acetylglucosamine 1phosphotransferase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009650",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650",
                                "name": "inclusion cell disease",
                                "description": ""
                            },
                            {
                                "id": "MIM:252500",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/252500",
                                "name": "Mucolipidosis type II",
                                "description": "Mucolipidosis type II"
                            }
                        ],
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                        "evidence": [
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                                "id": "0009650",
                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009650"
                            },
                            {
                                "id": "252500",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/252500"
                            },
                            {
                                "id": "79158",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/79158#disease"
                            },
                            {
                                "id": "0080070",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080070"
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                        ]
                    },
                    {
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                        "recommended_name": {
                            "id": "DOID:0080071",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080071",
                            "name": "mucolipidosis III alpha/beta",
                            "description": "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080071",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080071",
                                "name": "mucolipidosis III",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080071",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080071",
                                "name": "pseudo-Hurler polydystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0018931",
                                "resource": "MONDO",
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