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        "title": "Crystal structures of human tissue kallikrein 4: activity modulation by a specific zinc binding site.",
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        "title": "Polyclonal antibodies against kallikrein-related peptidase 4 (KLK4): immunohistochemical assessment of KLK4 expression in healthy tissues and prostate cancer.",
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        "date": "2010",
        "authors": "Seiz L, Kotzsch M, Grebenchtchikov NI, Geurts-Moespot AJ, Fuessel S, Goettig P, Gkazepis A, Wirth MP, Schmitt M, Lossnitzer A, Sweep FC, Magdolen V",
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                        "HPC10",
                        "prostate cancer, hereditary, 12",
                        "EHBP1 familial prostate cancer",
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                        "prostate cancer, hereditary, type 12",
                        "HPC12",
                        "prostate cancer, hereditary, 13",
                        "MSMB familial prostate cancer",
                        "familial prostate cancer caused by mutation in MSMB",
                        "prostate cancer, hereditary, type 13",
                        "HPC13",
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                        "HPC11",
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                    ],
                    "id_list": [
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                    },
                    {
                        "field": "total_sites",
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                    },
                    {
                        "field": "n_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "o_linked_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
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                    {
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                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
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                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "phosphorylation",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
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                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
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                    {
                        "field": "total_sites",
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                    {
                        "field": "n_linked_sites",
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                    {
                        "field": "o_linked_sites",
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                    {
                        "field": "n_linked_glycan_sites",
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                    },
                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
                    },
                    {
                        "field": "total_sites",
                        "count": 0
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                    {
                        "field": "n_linked_sites",
                        "count": 0
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                    {
                        "field": "o_linked_sites",
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                    {
                        "field": "n_linked_glycan_sites",
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                    {
                        "field": "o_linked_glycan_sites",
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                    {
                        "field": "n_linked_glycans",
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                    {
                        "field": "o_linked_glycans",
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                ],
                "sort_fields": []
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            {
                "table_id": "glycosylation_predicted",
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                    {
                        "field": "o_linked_glycan_sites",
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                    {
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                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
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                    }
                ],
                "sort_fields": []
            },
            {
                "table_id": "glycosylation_automatic_literature_mining",
                "table_stats": [
                    {
                        "field": "total",
                        "count": 0
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                    {
                        "field": "total_sites",
                        "count": 0
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                    {
                        "field": "n_linked_sites",
                        "count": 0
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                    {
                        "field": "o_linked_sites",
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                    {
                        "field": "n_linked_glycan_sites",
                        "count": 0
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                    {
                        "field": "o_linked_glycan_sites",
                        "count": 0
                    },
                    {
                        "field": "n_linked_glycans",
                        "count": 0
                    },
                    {
                        "field": "o_linked_glycans",
                        "count": 0
                    }
                ],
                "sort_fields": []
            }
        ]
    },
    {
        "title": "POMGnT1 gene alterations in a family with neurological abnormalities.",
        "journal": "Annals of neurology",
        "date": "2004",
        "authors": "Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK",
        "reference": {
            "type": "PubMed",
            "id": "15236414",
            "url": "https://pubmed.ncbi.nlm.nih.gov/15236414"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "Q8WZA1-1",
                "protein_name": "Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1",
                "gene_name": "POMGNT1",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
                        "database": "UniProtKB",
                        "id": "Q8WZA1",
                        "url": "https://www.uniprot.org/uniprotkb/Q8WZA1"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
                    {
                        "id": "Q8WZA1",
                        "database": "BioMuta",
                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/Q8WZA1"
                    },
                    {
                        "id": "rs193919336",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs193919336"
                    },
                    {
                        "id": "rs193919336",
                        "database": "ExAC",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs193919336"
                    },
                    {
                        "id": "rs193919336",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs193919336#frequency_tab"
                    },
                    {
                        "id": "rs193919336",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs193919336"
                    },
                    {
                        "id": "15236414",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15236414"
                    },
                    {
                        "id": "17030669",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/17030669"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 311,
                "end_pos": 311,
                "subjects_tested": "1704",
                "subjects_positive": "1",
                "frequency": "0.1",
                "sequence_org": "R",
                "sequence_mut": "Q",
                "comment": "Somatic mutation passed 1 filters: protein-of-interest(glycogene, glycosyltransferase).",
                "chr_id": "1",
                "chr_pos": "46193873",
                "ref_nt": "C",
                "alt_nt": "T",
                "minor_allelic_frequency": "",
                "site_lbl": "R311",
                "disease": [
                    {
                        "disease_id": "DOID:363",
                        "recommended_name": {
                            "id": "DOID:363",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:363",
                            "name": "uterine cancer",
                            "description": "A female reproductive organ cancer that is located_in the uterus."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "CA - cancer of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "Tumour of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "malignant uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "neoplasm of uterus",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterine tumor",
                                "description": ""
                            },
                            {
                                "id": "DOID:363",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:363",
                                "name": "uterus neoplasm",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
                            "DOID:9460",
                            "DOID:5166",
                            "DOID:2021",
                            "DOID:4114"
                        ],
                        "evidence": [
                            {
                                "id": "363",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:363"
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                        ]
                    },
                    {
                        "disease_id": "DOID:0110292",
                        "recommended_name": {
                            "id": "DOID:0110292",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110292",
                            "name": "autosomal recessive limb-girdle muscular dystrophy type 2O",
                            "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "LGMD2O",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "MDDGC3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "autosomal recessive limb-girdle muscular dystrophy type 2O",
                                "description": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia."
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "LGMD-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "LGMD2O",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "MDDGC3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "POMGNT1 autosomal recessive limb-girdle muscular dystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "limb-girdle muscular dystrophy type 2O",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:613157",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613157",
                                "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C3",
                                "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "613157",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/613157"
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                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "0110292",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110292"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111236",
                        "recommended_name": {
                            "id": "DOID:0111236",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111236",
                            "name": "congenital muscular dystrophy-dystroglycanopathy type A3",
                            "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "MDDGA3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",
                                "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscle-eye-brain-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "MDDGA3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:253280",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/253280",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
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                                "id": "253280",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/253280"
                            },
                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "55624",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/55624#disease"
                            },
                            {
                                "id": "0111236",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111236"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0112378",
                        "recommended_name": {
                            "id": "DOID:0112378",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0112378",
                            "name": "muscular dystrophy-dystroglycanopathy type B3",
                            "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0112378",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112378",
                                "name": "MDDGB3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0112378",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112378",
                                "name": "congenital muscular dystrophy POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "congenital muscular dystrophy-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "MDDGB3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:613151",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613151",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "613151",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/613151"
                            },
                            {
                                "id": "0112378",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0112378"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "biomuta",
                    "somatic",
                    "cancer",
                    "disease",
                    "ebi",
                    "germline"
                ],
                "filter_code": "010000000000000000000.00000000000000.000000000001000000.00001.11.000.000",
                "uniprot_canonical_ac": "Q8WZA1-1"
            },
            {
                "evidence": [
                    {
                        "id": "rs28940869",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28940869"
                    },
                    {
                        "id": "rs28940869",
                        "database": "TOPMed",
                        "url": "https://www.ncbi.nlm.nih.gov/snp/rs28940869#frequency_tab"
                    },
                    {
                        "id": "rs28940869",
                        "database": "gnomAD",
                        "url": "http://gnomad.broadinstitute.org/awesome?query=rs28940869"
                    },
                    {
                        "id": "15236414",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/15236414"
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                ],
                "glycoeffect": [],
                "start_pos": 442,
                "end_pos": 442,
                "sequence_org": "R",
                "sequence_mut": "C",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.",
                "chr_id": "1",
                "chr_pos": "46192397",
                "ref_nt": "A",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "R442",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
                "disease": [
                    {
                        "disease_id": "DOID:0110292",
                        "recommended_name": {
                            "id": "DOID:0110292",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110292",
                            "name": "autosomal recessive limb-girdle muscular dystrophy type 2O",
                            "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "LGMD2O",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "MDDGC3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110292",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110292",
                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "autosomal recessive limb-girdle muscular dystrophy type 2O",
                                "description": "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia."
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "LGMD-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "LGMD2O",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "MDDGC3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "POMGNT1 autosomal recessive limb-girdle muscular dystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "limb-girdle muscular dystrophy type 2O",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013161",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013161",
                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:613157",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613157",
                                "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C3",
                                "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C3"
                            }
                        ],
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                                "id": "613157",
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                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "0110292",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110292"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111236",
                        "recommended_name": {
                            "id": "DOID:0111236",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111236",
                            "name": "congenital muscular dystrophy-dystroglycanopathy type A3",
                            "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "MDDGA3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111236",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111236",
                                "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3",
                                "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life."
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscle-eye-brain-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "MDDGA3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009667",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009667",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:253280",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/253280",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3"
                            }
                        ],
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                            {
                                "id": "253280",
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                                "url": "https://www.omim.org/entry/253280"
                            },
                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "55624",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/55624#disease"
                            },
                            {
                                "id": "0111236",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0111236"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0112378",
                        "recommended_name": {
                            "id": "DOID:0112378",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0112378",
                            "name": "muscular dystrophy-dystroglycanopathy type B3",
                            "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0112378",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112378",
                                "name": "MDDGB3",
                                "description": ""
                            },
                            {
                                "id": "DOID:0112378",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0112378",
                                "name": "congenital muscular dystrophy POMGNT1-related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "congenital muscular dystrophy-POMGNT1 related",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "MDDGB3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0013155",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0013155",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3",
                                "description": ""
                            },
                            {
                                "id": "MIM:613151",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/613151",
                                "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3",
                                "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "613151",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/613151"
                            },
                            {
                                "id": "0112378",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0112378"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0061103",
                        "recommended_name": {
                            "id": "DOID:0061103",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0061103",
                            "name": "retinitis pigmentosa 76",
                            "description": "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34."
                        },
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                            {
                                "id": "DOID:0061103",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0061103",
                                "name": "RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76",
                                "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene."
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "POMGNT1 retinitis pigmentosa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa 76; RP76",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa caused by mutation in POMGNT1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014929",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014929",
                                "name": "retinitis pigmentosa type 76",
                                "description": ""
                            },
                            {
                                "id": "MIM:617123",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/617123",
                                "name": "Retinitis pigmentosa 76",
                                "description": "Retinitis pigmentosa 76"
                            }
                        ],
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                        "evidence": [
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                                "id": "617123",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/617123"
                            },
                            {
                                "id": "POMGNT1",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/POMGNT1/#!details"
                            },
                            {
                                "id": "0061103",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0061103"
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    {
        "title": "POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.",
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        "authors": "Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE",
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        "title": "Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.",
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        "authors": "Wang NH, Chen SJ, Yang CF, Chen HW, Chuang HP, Lu YH, Chen CH, Wu JY, Niu DM, Chen YT",
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