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        "title": "Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.",
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        "date": "2012",
        "authors": "Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH",
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        "title": "Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.",
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                        "id": "7513946",
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                ],
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                "start_pos": 543,
                "end_pos": 543,
                "sequence_org": "D",
                "sequence_mut": "A",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.",
                "chr_id": "12",
                "chr_pos": "48142041",
                "ref_nt": "C",
                "alt_nt": "null",
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                "site_lbl": "D543",
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                    {
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                            "url": "https://disease-ontology.org/term/DOID:11721",
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                        },
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                            {
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                                "name": "Muscle phosphofructokinase deficiency",
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                            },
                            {
                                "id": "DOID:11721",
                                "resource": "Disease Ontology",
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                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009295",
                                "name": "glycogen storage disease VII",
                                "description": "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood."
                            },
                            {
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                            {
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                                "resource": "MONDO",
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                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
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                                "name": "GSD type VII",
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
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                            },
                            {
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                            {
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                            },
                            {
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                                "resource": "MONDO",
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                            },
                            {
                                "id": "MONDO:0009295",
                                "resource": "MONDO",
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                            },
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                                "url": "https://monarchinitiative.org/disease/MONDO:0009295",
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                            },
                            {
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                            {
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                                "resource": "MONDO",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009295",
                                "name": "glycogenosis type VII",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009295",
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                                "description": ""
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009295",
                                "name": "GSD7",
                                "description": ""
                            },
                            {
                                "id": "MIM:232800",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/232800",
                                "name": "Glycogen storage disease 7",
                                "description": "Glycogen storage disease 7"
                            }
                        ],
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    {
        "title": "Mutations in muscle phosphofructokinase gene.",
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        "authors": "Raben N, Sherman J B",
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    {
        "title": "A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis.",
        "journal": "Muscle & nerve. Supplement",
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        "authors": "Nakagawa C, Mineo I, Kaido M, Fujimura H, Shimizu T, Hamaguchi T, Nakajima H, Tarui S",
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                                "id": "MONDO:0005575",
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    {
        "title": "Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.",
        "journal": "American journal of human genetics",
        "date": "1994-08",
        "authors": "Sherman J B, Raben N, Nicastri C, Argov Z, Nakajima H, Adams E M, Eng C M, Cowan T M, Plotz P H",
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    {
        "title": "Muscle phosphofructokinase deficiency in two generations.",
        "journal": "Journal of the neurological sciences",
        "date": "1996-09-15",
        "authors": "Vorgerd M, Karitzky J, Ristow M, Van Schaftingen E, Tegenthoff M, Jerusalem F, Malin J P",
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        ],
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            }
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            {
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                    {
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                    {
                        "id": "8037209",
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                    {
                        "id": "8880699",
                        "database": "PubMed",
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                    {
                        "id": "9389749",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/9389749"
                    }
                ],
                "glycoeffect": [],
                "start_pos": 668,
                "end_pos": 668,
                "sequence_org": "P",
                "sequence_mut": "null",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.",
                "chr_id": "12",
                "chr_pos": "48145041",
                "ref_nt": "l",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "P668",
                "keywords": [
                    "ebi",
                    "germline",
                    "disease"
                ],
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                    {
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                            "description": "A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13."
                        },
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                                "name": "Glycogen storage disease, type VII",
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                            {
                                "id": "DOID:11721",
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                                "name": "Muscle phosphofructokinase deficiency",
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                            {
                                "id": "DOID:11721",
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                                "name": "glycogen storage disease type VII",
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                            {
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                                "url": "https://disease-ontology.org/term/DOID:11721",
                                "name": "phosphofructokinase myopathy",
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                            },
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                                "url": "https://disease-ontology.org/term/DOID:11721",
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                                "url": "https://www.omim.org/entry/232800",
                                "name": "Glycogen storage disease 7",
                                "description": "Glycogen storage disease 7"
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    {
        "title": "Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.",
        "journal": "Human mutation",
        "date": "1996",
        "authors": "Hamaguchi T, Nakajima H, Noguchi T, Nakagawa C, Kuwajima M, Kono N, Tarui S, Matsuzawa Y",
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        "title": "Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance.",
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