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    {
        "title": "Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site.",
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        "date": "2006",
        "authors": "Shridas P, Waechter CJ",
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                "start_pos": 470,
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                "start_pos": 472,
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                "start_pos": 474,
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    {
        "title": "A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.",
        "journal": "American journal of human genetics",
        "date": "2007",
        "authors": "Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T",
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                "start_pos": 441,
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                "site_lbl": "Y441",
                "disease": [
                    {
                        "disease_id": "DOID:0080565",
                        "recommended_name": {
                            "id": "DOID:0080565",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080565",
                            "name": "congenital disorder of glycosylation Im",
                            "description": "A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080565",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080565",
                                "name": "DOLK-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080565",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080565",
                                "name": "congenital disorder of glycosylation 1m",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080565",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080565",
                                "name": "dolichol kinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "DK1-congenital disorder of glycosylation",
                                "description": "DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity."
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "CDG syndrome type Im",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "CDG-Im",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "CDG1M",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "DK1-CDG",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "DK1-congenital disorder of glycosylation",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "carbohydrate deficient glycoprotein syndrome type Im",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "congenital disorder of glycosylation type 1m",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "congenital disorder of glycosylation type Im",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "dolichol kinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "hypotonia and ichthyosis due to dolichol phosphate deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "CDGIm",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "DOLK-CDG (CDG-Im)",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012556",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
                                "name": "congenital disorder of glycosylation, type Im",
                                "description": ""
                            },
                            {
                                "id": "MIM:610768",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610768",
                                "name": "Congenital disorder of glycosylation 1M",
                                "description": "Congenital disorder of glycosylation 1M"
                            }
                        ],
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                            {
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                                "database": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012556"
                            },
                            {
                                "id": "610768",
                                "database": "MIM",
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                            {
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                            },
                            {
                                "id": "22845",
                                "database": "GlyCosmos",
                                "url": "https://glycosmos.org/glycogenes/show/22845#disease"
                            },
                            {
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                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080565"
                            }
                        ]
                    }
                ],
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                    "disease"
                ],
                "filter_code": "000000000000000000100.00000000000000.000000000001000000.00001.10.000.001",
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            },
            {
                "evidence": [
                    {
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                    },
                    {
                        "id": "rs137853109",
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                        "url": "https://www.ensembl.org/id/rs137853109"
                    },
                    {
                        "id": "17273964",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/17273964"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 99,
                "end_pos": 99,
                "sequence_org": "C",
                "sequence_mut": "S",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, llo pathway.",
                "chr_id": "9",
                "chr_pos": "128947009",
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                "site_lbl": "C99",
                "disease": [
                    {
                        "disease_id": "DOID:0080565",
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                            "id": "DOID:0080565",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0080565",
                            "name": "congenital disorder of glycosylation Im",
                            "description": "A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0080565",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080565",
                                "name": "DOLK-congenital disorder of glycosylation",
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                            },
                            {
                                "id": "DOID:0080565",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0080565",
                                "name": "congenital disorder of glycosylation 1m",
                                "description": ""
                            },
                            {
                                "id": "DOID:0080565",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
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                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012556",
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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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                                "id": "MIM:610768",
                                "resource": "MIM",
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                                "name": "Congenital disorder of glycosylation 1M",
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                            {
                                "id": "610768",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/610768"
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                            {
                                "id": "DOLK",
                                "database": "Genomics England",
                                "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/DOLK/#!details"
                            },
                            {
                                "id": "22845",
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            {
                "table_id": "glycosylation_reported",
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                ],
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            {
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        ]
    },
    {
        "title": "Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.",
        "journal": "European journal of human genetics : EJHG",
        "date": "2011",
        "authors": "Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers HH, Kuss AW, Najmabadi H, Tzschach A",
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            "type": "PubMed",
            "id": "20700148",
            "url": "https://pubmed.ncbi.nlm.nih.gov/20700148"
        },
        "referenced_glycans": [],
        "referenced_proteins": [
            {
                "uniprot_canonical_ac": "Q9UPQ8-1",
                "protein_name": "Dolichol kinase",
                "gene_name": "DOLK",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q86YN1-1",
                "protein_name": "Dolichyldiphosphatase 1",
                "gene_name": "DOLPP1",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q86SQ9-1",
                "protein_name": "Dehydrodolichyl diphosphate synthase complex subunit DHDDS",
                "gene_name": "DHDDS",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q8N5I4-1",
                "protein_name": "Polyprenol dehydrogenase",
                "gene_name": "DHRSX",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "P53602-1",
                "protein_name": "Diphosphomevalonate decarboxylase",
                "gene_name": "MVD",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q9H8P0-1",
                "protein_name": "Polyprenal reductase",
                "gene_name": "SRD5A3",
                "tax_name": "Human"
            },
            {
                "uniprot_canonical_ac": "Q96E22-1",
                "protein_name": "Dehydrodolichyl diphosphate synthase complex subunit NUS1",
                "gene_name": "NUS1",
                "tax_name": "Human"
            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
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                ],
                "common_name": "Human",
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            }
        ],
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            {
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                ],
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                "start_pos": 69,
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                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.",
                "chr_id": "4",
                "chr_pos": "55346540",
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                "site_lbl": "F69",
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                            "name": "Kahrizi syndrome",
                            "description": "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene."
                        },
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                                "id": "DOID:0050807",
                                "resource": "Disease Ontology",
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                            {
                                "id": "DOID:0050807",
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                                "id": "DOID:0050807",
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                                "description": "An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene."
                            },
                            {
                                "id": "MONDO:0012991",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012991",
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                                "description": ""
                            },
                            {
                                "id": "MONDO:0012991",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012991",
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                            {
                                "id": "MONDO:0012991",
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                                "name": "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive",
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                            {
                                "id": "MIM:612713",
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