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        "title": "D-glycerate kinase deficiency as a cause of D-glyceric aciduria.",
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                        "field": "total",
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                ],
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                        "field": "n_linked_glycan_sites",
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                ],
                "sort_fields": []
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            {
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    },
    {
        "title": "Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase).",
        "journal": "Human molecular genetics",
        "date": "1994",
        "authors": "Bonthron DT, Brady N, Donaldson IA, Steinmann B",
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            "type": "PubMed",
            "id": "7833921",
            "url": "https://pubmed.ncbi.nlm.nih.gov/7833921"
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            {
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            {
                "uniprot_canonical_ac": "Q3LXA3-1",
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            {
                "uniprot_canonical_ac": "P00352-1",
                "protein_name": "Aldehyde dehydrogenase 1A1",
                "gene_name": "ALDH1A1",
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        ],
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                    {
                        "database": "UniProtKB",
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                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
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            {
                "evidence": [
                    {
                        "id": "P50053",
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                        "url": "https://hivelab.biochemistry.gwu.edu/biomuta/proteinview/P50053"
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                    {
                        "id": "rs104893644",
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                    },
                    {
                        "id": "rs104893644",
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                    {
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                    }
                ],
                "glycoeffect": [],
                "start_pos": 43,
                "end_pos": 43,
                "subjects_tested": "3601",
                "subjects_positive": "5",
                "frequency": "0.1",
                "sequence_org": "A",
                "sequence_mut": "T",
                "comment": "Somatic mutation passed 2 filters: num. of cancers (3); protein-of-interest(glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis).",
                "chr_id": "2",
                "chr_pos": "27092366",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "A43",
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                                "resource": "Disease Ontology",
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                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
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                    {
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                        "recommended_name": {
                            "id": "DOID:0111680",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111680",
                            "name": "essential fructosuria",
                            "description": "A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3."
                        },
                        "synonyms": [
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                                "id": "DOID:0111680",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111680",
                                "name": "fructokinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111680",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111680",
                                "name": "hepatic fructokinase deficiency",
                                "description": ""
                            },
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