{
    "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061108"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061108",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061108",
            "categories": []
        },
        {
            "id": "MONDO:0044320",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044320",
            "categories": []
        },
        {
            "id": "MIM:617460",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617460",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P17710-1",
            "uniprot_ac": "P17710",
            "uniprot_id": "HXK1_MOUSE",
            "refseq_ac": "NP_034568",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "type": "synonym"
                },
                {
                    "name": "HK I",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase type I",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase, tumor isozyme",
                    "type": "synonym"
                },
                {
                    "name": "downeast anemia",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase type I",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase, tumor isozyme",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-1 isoform HK1-sb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hk1",
                    "type": "recommended"
                },
                {
                    "name": "Hk-1",
                    "type": "synonym"
                },
                {
                    "name": "Hk1-s",
                    "type": "synonym"
                },
                {
                    "name": "Hk1",
                    "type": "synonym"
                },
                {
                    "name": "dea",
                    "type": "synonym"
                },
                {
                    "name": "mHk1-s",
                    "type": "synonym"
                }
            ],
            "record_id": "P17710-1",
            "evidence": [
                {
                    "id": "0061108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19367-1",
            "uniprot_ac": "P19367",
            "uniprot_id": "HXK1_HUMAN",
            "refseq_ac": "NP_000179",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Brain form hexokinase",
                    "type": "synonym"
                },
                {
                    "name": "HK I",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase type I",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase-A",
                    "type": "synonym"
                },
                {
                    "name": "Neuropathy, hereditary motor and sensory, Russe type",
                    "type": "synonym"
                },
                {
                    "name": "brain form hexokinase",
                    "type": "synonym"
                },
                {
                    "name": "glycolytic enzyme",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase IR",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase type I",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-1 isoform HKI",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HK1",
                    "type": "recommended"
                },
                {
                    "name": "CNSHA5",
                    "type": "synonym"
                },
                {
                    "name": "HK1-ta",
                    "type": "synonym"
                },
                {
                    "name": "HK1-tb",
                    "type": "synonym"
                },
                {
                    "name": "HK1-tc",
                    "type": "synonym"
                },
                {
                    "name": "HK1",
                    "type": "synonym"
                },
                {
                    "name": "HKD",
                    "type": "synonym"
                },
                {
                    "name": "HKI",
                    "type": "synonym"
                },
                {
                    "name": "HK",
                    "type": "synonym"
                },
                {
                    "name": "HMSNR",
                    "type": "synonym"
                },
                {
                    "name": "HXK1",
                    "type": "synonym"
                },
                {
                    "name": "NEDVIBA",
                    "type": "synonym"
                },
                {
                    "name": "NMSR",
                    "type": "synonym"
                },
                {
                    "name": "RP79",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase",
                    "type": "synonym"
                }
            ],
            "record_id": "P19367-1",
            "evidence": [
                {
                    "id": "617460",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617460"
                },
                {
                    "id": "0061108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04807-1",
            "uniprot_ac": "P04807",
            "uniprot_id": "HXKB_YEAST",
            "refseq_ac": "NP_011261",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase-2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase PII",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase-B",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HXK2",
                    "type": "recommended"
                },
                {
                    "name": "HEX1",
                    "type": "synonym"
                },
                {
                    "name": "HKB",
                    "type": "synonym"
                },
                {
                    "name": "HXK2",
                    "type": "synonym"
                },
                {
                    "name": "NRB486",
                    "type": "synonym"
                },
                {
                    "name": "SCI2",
                    "type": "synonym"
                }
            ],
            "record_id": "P04807-1",
            "evidence": [
                {
                    "id": "0061108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17709-1",
            "uniprot_ac": "P17709",
            "uniprot_id": "HXKG_YEAST",
            "refseq_ac": "NP_009890",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucokinase-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GLK-1",
                    "type": "synonym"
                },
                {
                    "name": "Glucose kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "glucokinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLK1",
                    "type": "recommended"
                },
                {
                    "name": "GLK1",
                    "type": "synonym"
                },
                {
                    "name": "HOR3",
                    "type": "synonym"
                },
                {
                    "name": "YCL312",
                    "type": "synonym"
                },
                {
                    "name": "YCL40W",
                    "type": "synonym"
                }
            ],
            "record_id": "P17709-1",
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                {
                    "id": "0061108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061108"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04409-1",
            "uniprot_ac": "Q04409",
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            "refseq_ac": "NP_010804",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative glucokinase-2",
                    "type": "recommended"
                },
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                    "name": "2.7.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Early meiotic induction protein 2",
                    "type": "synonym"
                },
                {
                    "name": "GLK-2",
                    "type": "synonym"
                },
                {
                    "name": "Glucose kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "putative glucokinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMI2",
                    "type": "recommended"
                },
                {
                    "name": "D9719.21",
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                },
                {
                    "name": "EMI2",
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                }
            ],
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                    "id": "0061108",
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            ]
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            "uniprot_canonical_ac": "Q06204-1",
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                }
            ],
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                    "name": "N-acetylglucosamine kinase",
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                    "name": "hexokinase",
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                    "name": "NGK1",
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                    "id": "0061108",
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        {
            "uniprot_canonical_ac": "P04806-1",
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            ],
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                    "name": "hexokinase 1",
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                }
            ],
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                    "name": "HXK1",
                    "type": "recommended"
                },
                {
                    "name": "HKA",
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                },
                {
                    "name": "HXK1",
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                    "id": "0061108",
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            ]
        },
        {
            "uniprot_canonical_ac": "P05708-1",
            "uniprot_ac": "P05708",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase-1",
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                },
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                    "name": "2.7.1.1",
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                {
                    "name": "Brain form hexokinase",
                    "type": "synonym"
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                    "name": "HK I",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase type I",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase-A",
                    "type": "synonym"
                },
                {
                    "name": "brain form hexokinase",
                    "type": "synonym"
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                    "name": "hexokinase type I",
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                },
                {
                    "name": "hexokinase-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-A",
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            ],
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                    "name": "Hk1",
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                    "name": "HEXOKIN",
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                },
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                    "name": "HKI",
                    "type": "synonym"
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                {
                    "name": "Hk1",
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                    "id": "0061108",
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                }
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        {
            "uniprot_canonical_ac": "Q9NFT7-1",
            "uniprot_ac": "Q9NFT7",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Hexokinase-2",
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                    "name": "CG32849-PA",
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                },
                {
                    "name": "Hex-t2-PA",
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                },
                {
                    "name": "Hexokinase testis",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase testis 2",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase",
                    "type": "synonym"
                }
            ],
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                    "name": "Hex-T",
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                    "name": "CG32849",
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                    "name": "CG5443",
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                    "name": "DHK-453",
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                    "name": "Dmel\\CG32849",
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                    "name": "Hex-T2",
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                {
                    "name": "Hex-t2",
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                {
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                {
                    "name": "anon-WO0140519.203",
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                    "id": "0061108",
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            "uniprot_canonical_ac": "Q9W330-1",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Phosphotransferase",
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                },
                {
                    "name": "2.7.1.-",
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                    "name": "CG3001-PA",
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                {
                    "name": "Hex-A-PA",
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                {
                    "name": "hexokinase A, isoform A",
                    "type": "synonym"
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                {
                    "name": "hexokinase A",
                    "type": "synonym"
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                {
                    "name": "hexokinase-A",
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                    "name": "muscle-specific hexokinase",
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                    "name": "Hex-A",
                    "type": "recommended"
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                    "name": "B",
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                },
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                    "name": "CG3001",
                    "type": "synonym"
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                    "name": "DM1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3001",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG3001",
                    "type": "synonym"
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                    "name": "HEX-A",
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                },
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                    "name": "HEX",
                    "type": "synonym"
                },
                {
                    "name": "HK-A",
                    "type": "synonym"
                },
                {
                    "name": "HK",
                    "type": "synonym"
                },
                {
                    "name": "Hex-A:B",
                    "type": "synonym"
                },
                {
                    "name": "Hex-A",
                    "type": "synonym"
                },
                {
                    "name": "HexA",
                    "type": "synonym"
                },
                {
                    "name": "Hex",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0061108",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061108"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061108"
}