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        "authors": "Andreoni F, Ruzzo A, Magnani M",
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        "title": "HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.",
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                                "description": "Anemia, congenital, non-spherocytic hemolytic, 5"
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        "title": "A recombinant human 'mini'-hexokinase is catalytically active and regulated by hexose 6-phosphates.",
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    {
        "title": "A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.",
        "journal": "Investigative ophthalmology & visual science",
        "date": "2014",
        "authors": "Wang F, Wang Y, Zhang B, Zhao L, Lyubasyuk V, Wang K, Xu M, Li Y, Wu F, Wen C, Bernstein PS, Lin D, Zhu S, Wang H, Zhang K, Chen R",
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                        "id": "rs777849213",
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                            {
                                "id": "MONDO:0044320",
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                                "description": "Retinitis pigmentosa 79"
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    {
        "title": "De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.",
        "journal": "European journal of human genetics : EJHG",
        "date": "2019",
        "authors": "Okur V, Cho MT, van Wijk R, van Oirschot B, Picker J, Coury SA, Grange D, Manwaring L, Krantz I, Muraresku CC, Hulick PJ, May H, Pierce E, Place E, Bujakowska K, Telegrafi A, Douglas G, Monaghan KG, Begtrup A, Wilson A, Retterer K, Anyane-Yeboa K, Chung WK",
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            {
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                    {
                        "id": "rs1064795154",
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                        "id": "30778173",
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                            },
                            {
                                "id": "DOID:0110196",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110196",
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                                "description": ""
                            },
                            {
                                "id": "DOID:0110196",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110196",
                                "name": "Charcot-Marie-Tooth neuropathy type 4G",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110196",
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                            },
                            {
                                "id": "DOID:0110196",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110196",
                                "name": "hereditary motor and sensory neuropathy Russe type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011534",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011534",
                                "name": "Charcot-Marie-Tooth disease type 4G",
                                "description": "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies."
                            },
                            {
                                "id": "MONDO:0011534",
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                            {
                                "id": "MONDO:0011534",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0011534",
                                "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011534",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011534",
                                "name": "HK1 Charcot-Marie-Tooth disease type 4",
                                "description": ""
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                            {
                                "id": "MONDO:0011534",
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                        "id": "rs1064794848",
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                ],
                "glycoeffect": [
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                "start_pos": 445,
                "end_pos": 445,
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                "sequence_mut": "L",
                "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.",
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                "chr_pos": "69382555",
                "ref_nt": "T",
                "alt_nt": "null",
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                    {
                        "disease_id": "DOID:0051006",
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                            "id": "DOID:0051006",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0051006",
                            "name": "congenital nonspherocytic hemolytic anemia 5",
                            "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22."
                        },
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                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
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                                "description": "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia."
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "hemolytic anaemia due to hexokinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "hemolytic anemia due to hexokinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "hemolytic anemia, nonspherocytic, due to hexokinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "nonspherocytic hemolytic anaemia due to hexokinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "nonspherocytic hemolytic anemia due to hexokinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "hexokinase deficiency hemolytic anaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "hexokinase deficiency hemolytic anemia",
                                "description": ""
                            },
                            {
                                "id": "MIM:235700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/235700",
                                "name": "Anemia, congenital, non-spherocytic hemolytic, 5",
                                "description": "Anemia, congenital, non-spherocytic hemolytic, 5"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "235700",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/235700"
                            },
                            {
                                "id": "0051006",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0051006"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:10584",
                        "recommended_name": {
                            "id": "DOID:10584",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:10584",
                            "name": "retinitis pigmentosa",
                            "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:10584",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10584",
                                "name": "pericentral pigmentary retinopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019200",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019200",
                                "name": "retinitis pigmentosa",
                                "description": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades."
                            },
                            {
                                "id": "MONDO:0019200",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019200",
                                "name": "retinitis pigmentosa",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019200",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019200",
                                "name": "pericentral pigmentary retinopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0019200",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0019200",
                                "name": "Rod-cone dystrophy",
                                "description": ""
                            },
                            {
                                "id": "MIM:268000",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/268000",
                                "name": "Retinitis pigmentosa",
                                "description": "Retinitis pigmentosa"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10584",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10584"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0061108",
                        "recommended_name": {
                            "id": "DOID:0061108",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0061108",
                            "name": "retinitis pigmentosa 79",
                            "description": "A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0061108",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0061108",
                                "name": "RP79",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0044320",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0044320",
                                "name": "retinitis pigmentosa 79",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0044320",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0044320",
                                "name": "retinitis pigmentosa 79",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0044320",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0044320",
                                "name": "RP79",
                                "description": ""
                            },
                            {
                                "id": "MIM:617460",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/617460",
                                "name": "Retinitis pigmentosa 79",
                                "description": "Retinitis pigmentosa 79"
                            }
                        ],
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                        "evidence": [
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                                "id": "617460",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/617460"
                            },
                            {
                                "id": "0061108",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0061108"
                            }
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                    },
                    {
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                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs1057517928"
                    },
                    {
                        "id": "30778173",
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                        "url": "https://pubmed.ncbi.nlm.nih.gov/30778173"
                    },
                    {
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                        "database": "COSMIC",
                        "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs1057517928"
                    }
                ],
                "glycoeffect": [
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                ],
                "start_pos": 457,
                "end_pos": 457,
                "sequence_org": "T",
                "sequence_mut": "M",
                "comment": "Somatic mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.",
                "chr_id": "10",
                "chr_pos": "69382591",
                "ref_nt": "T",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "T457",
                "disease": [
                    {
                        "disease_id": "DOID:0110196",
                        "recommended_name": {
                            "id": "DOID:0110196",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110196",
                            "name": "Charcot-Marie-Tooth disease type 4G",
                            "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0110196",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110196",
                                "name": "autosomal recessive Charcot-Marie-Tooth disease type 4G",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110196",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110196",
                                "name": "CMT4G",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110196",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110196",
                                "name": "Charcot-Marie-Tooth neuropathy type 4G",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110196",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110196",
                                "name": "HMSNR",
                                "description": ""
                            },
                            {
                                "id": "DOID:0110196",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0110196",
                                "name": "hereditary motor and sensory neuropathy Russe type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011534",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011534",
                                "name": "Charcot-Marie-Tooth disease type 4G",
                                "description": "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies."
                            },
                            {
                                "id": "MONDO:0011534",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011534",
                                "name": "CMT4G",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011534",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011534",
                                "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011534",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011534",
                                "name": "HK1 Charcot-Marie-Tooth disease type 4",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011534",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011534",
                                "name": "HMSNR",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011534",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011534",
                                "name": "hereditary motor and sensory neuropathy, Russe type",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0011534",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0011534",
                                "name": "neuropathy, hereditary motor and sensory, Russe type",
                                "description": ""
                            },
                            {
                                "id": "MIM:605285",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/605285",
                                "name": "Neuropathy, hereditary motor and sensory, Russe type",
                                "description": "Neuropathy, hereditary motor and sensory, Russe type"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "605285",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/605285"
                            },
                            {
                                "id": "0110196",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0110196"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0051006",
                        "recommended_name": {
                            "id": "DOID:0051006",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0051006",
                            "name": "congenital nonspherocytic hemolytic anemia 5",
                            "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22."
                        },
                        "synonyms": [
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "non-spherocytic hemolytic anemia due to hexokinase deficiency",
                                "description": "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia."
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "hemolytic anaemia due to hexokinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "hemolytic anemia due to hexokinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "hemolytic anemia, nonspherocytic, due to hexokinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "nonspherocytic hemolytic anaemia due to hexokinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "nonspherocytic hemolytic anemia due to hexokinase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "hexokinase deficiency hemolytic anaemia",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009340",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009340",
                                "name": "hexokinase deficiency hemolytic anemia",
                                "description": ""
                            },
                            {
                                "id": "MIM:235700",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/235700",
                                "name": "Anemia, congenital, non-spherocytic hemolytic, 5",
                                "description": "Anemia, congenital, non-spherocytic hemolytic, 5"
                            }
                        ],
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                        "evidence": [
                            {
                                "id": "235700",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/235700"
                            },
                            {
                                "id": "0051006",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0051006"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0061108",
                        "recommended_name": {
                            "id": "DOID:0061108",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0061108",
                            "name": "retinitis pigmentosa 79",
                            "description": "A retinitis pigmentosa that has_material_basis_in heterozygous mutation in the HK1 gene on chromosome 10q22."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0061108",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0061108",
                                "name": "RP79",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0044320",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0044320",
                                "name": "retinitis pigmentosa 79",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0044320",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0044320",
                                "name": "retinitis pigmentosa 79",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0044320",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0044320",
                                "name": "RP79",
                                "description": ""
                            },
                            {
                                "id": "MIM:617460",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/617460",
                                "name": "Retinitis pigmentosa 79",
                                "description": "Retinitis pigmentosa 79"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "617460",
                                "database": "MIM",
                                "url": "https://www.omim.org/entry/617460"
                            },
                            {
                                "id": "0061108",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0061108"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
                    "somatic",
                    "disease"
                ],
                "filter_code": "000000000000000010000.00000000000000.000000000001000000.00001.11.000.001",
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            }
        ],
        "record_id": "pubmed.30778173",
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        "glycosylation": [],
        "mutagenesis": [],
        "phosphorylation": [],
        "glycation": [],
        "section_stats": [
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                ],
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                ],
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            {
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                    {
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                ],
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            {
                "table_id": "glycosylation_reported",
                "table_stats": [
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                ],
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            {
                "table_id": "glycosylation_reported_with_glycan",
                "table_stats": [
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                ],
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    },
    {
        "title": "Human hexokinase: sequences of amino- and carboxyl-terminal halves are homologous.",
        "journal": "Biochem. Biophys. Res. Commun.",
        "date": "1988",
        "authors": "Nishi S, Seino S, Bell G I",
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            "id": "3207429",
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            }
        ],
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        "date": "2024-01-25",
        "authors": "Wei Junjie, Wen Qiuping, Zhan Shicheng, Cao Ji, Jiang Yanji, Lian Jiawei, Mai Yuejiao, Qiu Moqin, Liu Yingchun, Chen Peiqin, Lin Qiuling, Wei Xiaoxia, Wei Yuying, Huang Qiongguang, Zhang Ruoxin, He Songqing, Yuan Guandou, Wei Qingyi, Zhou Zihan, Yu Hongping",
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