{
    "disease_id": "DOID:0080694",
    "recommended_name": {
        "id": "DOID:0080694",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080694",
        "name": "Galloway-Mowat syndrome",
        "description": "A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy."
    },
    "synonyms": [
        {
            "id": "MONDO:0033005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033005",
            "name": "Galloway-Mowat syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0033005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033005",
            "name": "Galloway-Mowat syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0033005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033005",
            "name": "GAMOS1",
            "description": ""
        },
        {
            "id": "MONDO:0033005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033005",
            "name": "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0033005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033005",
            "name": "spinocerebellar ataxia, autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MIM:251300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251300",
            "name": "Galloway-Mowat syndrome 1",
            "description": "Galloway-Mowat syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060364",
            "label": "Galloway-Mowat syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061289",
            "label": "Galloway-Mowat syndrome 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061290",
            "label": "Galloway-Mowat syndrome 7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061291",
            "label": "Galloway-Mowat syndrome 8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061292",
            "label": "Galloway-Mowat syndrome 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061293",
            "label": "Galloway-Mowat syndrome 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080244",
            "label": "Galloway-Mowat syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080245",
            "label": "Galloway-Mowat syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080246",
            "label": "Galloway-Mowat syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080247",
            "label": "Galloway-Mowat syndrome 5",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080244",
        "DOID:0061292",
        "DOID:0060364",
        "DOID:0080246",
        "DOID:0061289",
        "DOID:0061290",
        "DOID:0080247",
        "DOID:0061291",
        "DOID:0061293",
        "DOID:0080245",
        "DOID:0080694"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080694",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080694",
            "categories": []
        },
        {
            "id": "MONDO:0033005",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033005",
            "categories": []
        },
        {
            "id": "MIM:251300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/251300",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q5RGI2",
            "uniprot_id": "Q5RGI2_DANRE",
            "refseq_ac": "NP_001025338",
            "glycoprotein": "yes",
            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Nuclear pore complex protein",
                    "type": "recommended"
                },
                {
                    "name": "nuclear pore complex protein Nup107",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "nup107",
                    "type": "recommended"
                },
                {
                    "name": "nup107",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-27k7.3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152723",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RGI2-1",
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                    "id": "0080694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080694"
                }
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Nuclear pore complex protein Nup133",
                    "type": "recommended"
                },
                {
                    "name": "Nucleoporin 133",
                    "type": "synonym"
                },
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                    "type": "synonym"
                }
            ],
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                {
                    "name": "nup133",
                    "type": "recommended"
                },
                {
                    "name": "nup133",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa04e09",
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                {
                    "name": "zgc:55311",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080694"
                }
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            "uniprot_ac": "A4IGH4",
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit wdr4",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit wdr4",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase subunit WDR4",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "wdr4",
                    "type": "recommended"
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                {
                    "name": "im:6900357",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-140m22.6",
                    "type": "synonym"
                },
                {
                    "name": "wdr4",
                    "type": "synonym"
                }
            ],
            "record_id": "A4IGH4-1",
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                {
                    "id": "0080694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080694"
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            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32T9L1-1",
            "uniprot_ac": "A0AB32T9L1",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
            "protein_names": [
                {
                    "name": "Threonylcarbamoyl-AMP synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.87",
                    "type": "synonym"
                },
                {
                    "name": "threonylcarbamoyl-AMP synthase isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "yrdc",
                    "type": "recommended"
                },
                {
                    "name": "yrdc",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162301",
                    "type": "synonym"
                }
            ],
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                    "id": "0080694",
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                }
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        },
        {
            "uniprot_canonical_ac": "P0C8B4-1",
            "uniprot_ac": "P0C8B4",
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            "refseq_ac": "NP_001136410",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "EKC/KEOPS complex subunit GON7",
                    "type": "recommended"
                },
                {
                    "name": "EKC/KEOPS complex subunit GON7",
                    "type": "synonym"
                },
                {
                    "name": "GON7, KEOPS complex subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C14orf142 homolog",
                    "type": "synonym"
                }
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                {
                    "name": "Gon7",
                    "type": "recommended"
                },
                {
                    "name": "Gon7",
                    "type": "synonym"
                }
            ],
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                    "id": "0080694",
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        {
            "uniprot_canonical_ac": "Q8BH74-1",
            "uniprot_ac": "Q8BH74",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup107",
                    "type": "recommended"
                },
                {
                    "name": "107 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup107",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup107 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear pore complex protein Nup107",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin Nup107",
                    "type": "synonym"
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                    "name": "Nup107",
                    "type": "recommended"
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                    "id": "0080694",
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                {
                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Nuclear pore complex protein Nup133",
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                    "name": "133 kDa nucleoporin",
                    "type": "synonym"
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                    "name": "Nucleoporin Nup133",
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                    "name": "nuclear pore complex protein Nup133",
                    "type": "synonym"
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                    "name": "nucleoporin Nup133",
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                }
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                    "id": "0080694",
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            ],
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                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4",
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                },
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                    "name": "Protein Wuho homolog",
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                },
                {
                    "name": "WD40 repeat protein 4",
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                    "name": "mWH",
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                    "name": "protein Wuho homolog",
                    "type": "synonym"
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                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform a",
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                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase subunit WDR4",
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                    "name": "Wdr4",
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                    "name": "D530049K22Rik",
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                    "name": "Wdr4",
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                {
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                    "id": "0080694",
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                    "name": "threonylcarbamoyl-AMP synthase",
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                    "name": "IRIP",
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                {
                    "name": "ITIP",
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                {
                    "name": "Irip",
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                {
                    "name": "Yrdc",
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                    "id": "0080694",
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                    "name": "Homo sapiens",
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            ],
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                {
                    "name": "Integrator complex assembly factor WDR73",
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                    "name": "FLJ00296 protein",
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                    "name": "WD repeat-containing protein 73",
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                    "name": "integrator complex assembly factor WDR73",
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                    "name": "WDR73",
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                    "name": "GAMOS1",
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                    "name": "GAMOS",
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                    "name": "HSPC264",
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                    "name": "WDR73",
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                    "name": "Nucleoporin NUP84",
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                    "name": "Nuclear pore protein NUP84",
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                    "name": "Nup84p",
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                    "id": "0080694",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
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                    "name": "Nucleoporin NUP133",
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                    "name": "Nuclear pore protein NUP133",
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                    "name": "Nup133p",
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                    "name": "NUP133",
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                    "name": "NUP133",
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                    "name": "RAT3",
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                    "name": "YKR402",
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                    "id": "0080694",
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            "uniprot_canonical_ac": "Q03774-1",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit TRM82",
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                },
                {
                    "name": "Transfer RNA methyltransferase 82",
                    "type": "synonym"
                },
                {
                    "name": "Trm82p",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "TRM82",
                    "type": "recommended"
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                {
                    "name": "TRM82",
                    "type": "synonym"
                },
                {
                    "name": "YD8358.19",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080694"
                }
            ]
        },
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                {
                    "name": "Saccharomyces cerevisiae S288C",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Threonylcarbamoyl-AMP synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.87",
                    "type": "synonym"
                },
                {
                    "name": "L-threonylcarbamoyladenylate synthase",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of upstream AUG protein 5",
                    "type": "synonym"
                },
                {
                    "name": "TC-AMP synthase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A37 threonylcarbamoyladenosine biosynthesis protein SUA5",
                    "type": "synonym"
                },
                {
                    "name": "tRNA threonylcarbamoyladenosine biosynthesis protein SUA5",
                    "type": "synonym"
                },
                {
                    "name": "threonylcarbamoyladenylate synthase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "SUA5",
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                {
                    "name": "G1660",
                    "type": "synonym"
                },
                {
                    "name": "SUA5",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080694",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080694"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52590-1",
            "uniprot_ac": "P52590",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear pore complex protein Nup107",
                    "type": "recommended"
                },
                {
                    "name": "107 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup107",
                    "type": "synonym"
                },
                {
                    "name": "p105",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nup107",
                    "type": "recommended"
                }
            ],
            "record_id": "P52590-1",
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                {
                    "id": "0080694",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8B2-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Nuclear pore complex protein Nup133",
                    "type": "recommended"
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                {
                    "name": "133 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup133",
                    "type": "synonym"
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                {
                    "name": "nuclear pore complex protein Nup133",
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                }
            ],
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                {
                    "name": "Nup133",
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                {
                    "name": "Nup133",
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            ],
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                    "id": "0080694",
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            ]
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                    "taxid": 10116,
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                    "glygen_name": "Rat",
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                }
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                {
                    "name": "WD repeat domain 4",
                    "type": "synonym"
                }
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                {
                    "name": "Wdr4",
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                {
                    "id": "0080694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080694"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q499R4-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Threonylcarbamoyl-AMP synthase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.87",
                    "type": "synonym"
                },
                {
                    "name": "BmTCTP receptor",
                    "type": "synonym"
                },
                {
                    "name": "ischemia/reperfusion inducible protein",
                    "type": "synonym"
                },
                {
                    "name": "ischemia/reperfusion-inducible protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "threonylcarbamoyl-AMP synthase precursor",
                    "type": "synonym"
                },
                {
                    "name": "threonylcarbamoyl-AMP synthase",
                    "type": "synonym"
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                {
                    "name": "yrdC domain containing",
                    "type": "synonym"
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                {
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                }
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                {
                    "name": "Isrip",
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                {
                    "name": "Yrdc",
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                }
            ],
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                {
                    "id": "0080694",
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                }
            ]
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            "uniprot_ac": "Q9V466",
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                {
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Nuclear pore complex protein Nup107",
                    "type": "recommended"
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                {
                    "name": "CG6743-PA",
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                {
                    "name": "Nucleoporin Nup107",
                    "type": "synonym"
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                {
                    "name": "Nup107-PA",
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                },
                {
                    "name": "Nup170",
                    "type": "synonym"
                },
                {
                    "name": "nucleoporin 107kD",
                    "type": "synonym"
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                {
                    "name": "nucleoporin 107",
                    "type": "synonym"
                }
            ],
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                    "name": "Nup107",
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                {
                    "name": "BcDNA:LD18761",
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                    "name": "CG6743",
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                {
                    "name": "Dmel\\CG6743",
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                {
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                {
                    "name": "Nup107",
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                    "name": "Nup170",
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                {
                    "name": "dmNup107",
                    "type": "synonym"
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                {
                    "name": "nup107",
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            ],
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                {
                    "id": "0080694",
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                }
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                }
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                {
                    "name": "nucleoporin 133kD",
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                    "name": "nucleoporin 133",
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                    "id": "0080694",
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                {
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                    "id": "0080694",
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                    "id": "0080694",
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                    "name": "nucleoporin 133kDa",
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                {
                    "name": "nucleoporin Nup133",
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                {
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                    "id": "0080694",
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            ],
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                    "name": "Nuclear pore complex protein Nup107",
                    "type": "recommended"
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                {
                    "name": "107 kDa nucleoporin",
                    "type": "synonym"
                },
                {
                    "name": "Nucleoporin Nup107",
                    "type": "synonym"
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                {
                    "name": "nuclear pore complex protein Nup107 isoform 2",
                    "type": "synonym"
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                {
                    "name": "nuclear pore complex protein Nup107",
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                {
                    "name": "nucleoporin 107kDa",
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            ],
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                    "name": "NUP107",
                    "type": "recommended"
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                {
                    "name": "GAMOS7",
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                {
                    "name": "NPHS11",
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                {
                    "name": "NUP107",
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                {
                    "name": "NUP84",
                    "type": "synonym"
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                {
                    "name": "ODG6",
                    "type": "synonym"
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            ],
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                    "id": "0080694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080694"
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        {
            "uniprot_canonical_ac": "Q9BXV9-1",
            "uniprot_ac": "Q9BXV9",
            "uniprot_id": "GON7_HUMAN",
            "refseq_ac": "NP_115879",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "EKC/KEOPS complex subunit GON7",
                    "type": "recommended"
                },
                {
                    "name": "EKC/KEOPS complex subunit GON7",
                    "type": "synonym"
                },
                {
                    "name": "GON7, KEOPS complex subunit homolog",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein C14orf142",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GON7",
                    "type": "recommended"
                },
                {
                    "name": "C14orf142",
                    "type": "synonym"
                },
                {
                    "name": "GON7",
                    "type": "synonym"
                },
                {
                    "name": "PNAS-127",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BXV9-1",
            "evidence": [
                {
                    "id": "0080694",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080694"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080694"
}