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        "title": "The mammalian proteins MMS19, MIP18, and ANT2 are involved in cytoplasmic iron-sulfur cluster protein assembly.",
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        "authors": "Imbach T, Schenk B, Schollen E, Burda P, Stutz A, Grunewald S, Bailie NM, King MD, Jaeken J, Matthijs G, Berger EG, Aebi M, Hennet T",
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        "title": "Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I.",
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        "title": "Congenital disorder of glycosylation (CDG) type Ie. A new patient.",
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        "authors": "Garcia-Silva MT, Matthijs G, Schollen E, Cabrera JC, Sanchez del Pozo J, Marti Herreros M, Simon R, Maties M, Martin Hernandez E, Hennet T, Briones P",
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    {
        "title": "Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.",
        "journal": "Neurology",
        "date": "2009-11-10",
        "authors": "Messina S, Tortorella G, Concolino D, Span\u00f2 M, D'Amico A, Bruno C, Santorelli F M, Mercuri E, Bertini E",
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                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9Y5P6-1",
                "protein_name": "Mannose-1-phosphate guanylyltransferase catalytic subunit beta",
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            }
        ],
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            {
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                    {
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                    {
                        "id": "rs397514503",
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                        "id": "23109149",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/23109149"
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                ],
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                "end_pos": 23,
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                            "url": "https://disease-ontology.org/term/DOID:0080571",
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                            "description": "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34."
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                            {
                                "id": "DOID:0080571",
                                "resource": "Disease Ontology",
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                                "name": "congenital disorder of glycosylation 1u",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014023",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014023",
                                "name": "congenital muscular dystrophy with intellectual disability and severe epilepsy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014023",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014023",
                                "name": "CDG syndrome type Iu",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014023",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014023",
                                "name": "CDG-Iu",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014023",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014023",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0014023",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014023",
                                "name": "CMD with intellectual disability and severe epilepsy",
                                "description": ""
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                            {
                                "id": "MONDO:0014023",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014023",
                                "name": "DPM2-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014023",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014023",
                                "name": "carbohydrate deficient glycoprotein syndrome type Iu",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014023",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014023",
                                "name": "congenital disorder of glycosylation type 1u",
                                "description": ""
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                            {
                                "id": "MONDO:0014023",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014023",
                                "name": "congenital disorder of glycosylation type Iu",
                                "description": ""
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                            {
                                "id": "MONDO:0014023",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014023",
                                "name": "congenital disorder of glycosylation, type Iu",
                                "description": ""
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                            {
                                "id": "MIM:615042",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/615042",
                                "name": "Congenital disorder of glycosylation 1U",
                                "description": "Congenital disorder of glycosylation 1U"
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                "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.",
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                    {
                        "disease_id": "DOID:0110294",
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                            "id": "DOID:0110294",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110294",
                            "name": "autosomal recessive limb-girdle muscular dystrophy type 2T",
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                                "id": "DOID:0110294",
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                                "description": ""
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                            {
                                "id": "DOID:0110294",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110294",
                                "name": "MDDGC14",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110294",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110294",
                                "name": "muscular dystrophy limb-girdle type 2T",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110294",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110294",
                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110294",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110294",
                                "name": "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related",
                                "description": ""
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                            {
                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "autosomal recessive limb-girdle muscular dystrophy type 2T",
                                "description": "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency."
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                            {
                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "GMPPB autosomal recessive limb-girdle muscular dystrophy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "LGMD-GMPPB related",
                                "description": ""
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                            {
                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "LGMD2T",
                                "description": ""
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                            {
                                "id": "MONDO:0014142",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
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                                "id": "MONDO:0014142",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "limb-girdle muscular dystrophy type 2T",
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                                "id": "MONDO:0014142",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014142",
                                "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14",
                                "description": ""
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                            {
                                "id": "MIM:615352",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/615352",
                                "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C14",
                                "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C14"
                            }
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                                "database": "MIM",
                                "url": "https://www.omim.org/entry/615352"
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                            {
                                "id": "GMPPB",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/GMPPB/#!details"
                            },
                            {
                                "id": "0110294",
                                "database": "AGR",
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                        ]
                    },
                    {
                        "disease_id": "DOID:0111233",
                        "recommended_name": {
                            "id": "DOID:0111233",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111233",
                            "name": "congenital muscular dystrophy-dystroglycanopathy type A14",
                            "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31."
                        },
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                            {
                                "id": "DOID:0111233",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111233",
                                "name": "Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111233",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111233",
                                "name": "MDDGA14",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111233",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111233",
                                "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014140",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0014140",
                                "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0014140",
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