{
    "disease_id": "DOID:0060309",
    "recommended_name": {
        "id": "DOID:0060309",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060309",
        "name": "syndromic X-linked intellectual disability",
        "description": "A syndromic intellectual disability characterized by an X-linked inheritance pattern."
    },
    "synonyms": [
        {
            "id": "DOID:0060309",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060309",
            "name": "syndromic X-linked mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "Partington syndrome",
            "description": "A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person."
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "Partington syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "Partington syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "Partington-Mulley syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "X-linked intellectual disability-dystonia-dysarthria syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "MRXS1",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "PRTS",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "Partington X-linked intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "Partington X-linked mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "intellectual disability, X-linked, syndromic 1",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "intellectual disability, X-linked, with dystonic movements, ataxia, and seizures",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "intellectual disability-dystonic movements-ataxia-seizures syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "mental retardation, X-linked 36",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "mental retardation, X-linked, syndromic 1",
            "description": ""
        },
        {
            "id": "MONDO:0010654",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010654",
            "name": "mental retardation, X-linked, with dystonic movements, ataxia, and seizures",
            "description": ""
        },
        {
            "id": "MIM:309510",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309510",
            "name": "Partington syndrome",
            "description": "Partington syndrome"
        }
    ],
    "children": [
        {
            "id": "DOID:0050647",
            "label": "Arts syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050681",
            "label": "Borjeson-Forssman-Lehmann syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050764",
            "label": "Armfield syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060179",
            "label": "Renpenning syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060799",
            "label": "syndromic X-linked intellectual disability Lubs type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060800",
            "label": "syndromic X-linked intellectual disability 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060801",
            "label": "MEHMO syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060802",
            "label": "syndromic X-linked intellectual disability Snyder type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060805",
            "label": "Prieto syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060806",
            "label": "syndromic X-linked intellectual disability Hedera type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060807",
            "label": "syndromic X-linked intellectual disability Najm type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060809",
            "label": "syndromic X-linked intellectual disability Claes-Jensen type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060810",
            "label": "syndromic X-linked intellectual disability type 10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060811",
            "label": "syndromic X-linked intellectual disability Turner type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060812",
            "label": "syndromic X-linked intellectual disability Siderius type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060814",
            "label": "Wilson-Turner syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060815",
            "label": "Wieacker-Wolff syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060816",
            "label": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060817",
            "label": "syndromic X-linked intellectual disability 34",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060820",
            "label": "syndromic X-linked intellectual disability Nascimento type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060821",
            "label": "syndromic X-linked intellectual disability 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060822",
            "label": "syndromic X-linked intellectual disability Cabezas type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060823",
            "label": "syndromic X-linked intellectual disability 94",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060824",
            "label": "syndromic X-linked intellectual disability Raymond type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060825",
            "label": "Christianson syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060826",
            "label": "syndromic X-linked intellectual disability Shashi type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060827",
            "label": "X-linked intellectual disability-psychosis-macroorchidism syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061015",
            "label": "female-restricted Wieacker-Wolff syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070422",
            "label": "syndromic X-linked intellectual disability Pilorge type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070538",
            "label": "syndromic X-linked intellectual developmental disorder bain type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080241",
            "label": "syndromic X-linked mental retardation 35",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080242",
            "label": "syndromic X-linked mental retardation Hough type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080311",
            "label": "Billuart-type X-linked syndromic intellectual developmental disorder",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080982",
            "label": "X-linked intellectual disability-hypotonic facies syndrome-1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080984",
            "label": "X-linked intellectual developmental disorder 109",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080985",
            "label": "syndromic X-linked intellectual disorder Lujan-Fryns-type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081123",
            "label": "X-linked mental retardation Gustavson type",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111838",
            "label": "Basilicata-Akhtar syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111840",
            "label": "Van Esch-O'Driscoll syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111843",
            "label": "Paganini-Miozzo syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111844",
            "label": "X-linked intellectual developmental disorder 108",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111845",
            "label": "Mullegama-Klein-Martinez syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112025",
            "label": "female-restricted syndromic X-linked intellectual disability 99",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112042",
            "label": "Tonne-Kalscheuer syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112056",
            "label": "X-linked intellectual disability-short stature-overweight syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0112060",
            "label": "Raynaud-Claes syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:14744",
            "label": "Partington syndrome",
            "link_status": true,
            "children": []
        }
    ],
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            "id": "DOID:0060309",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060309",
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            "url": "https://www.omim.org/entry/309510",
            "categories": []
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                    "name": "Lysine-specific demethylase 7B",
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                {
                    "name": "HECT-type E3 ubiquitin transferase TOM1",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of snRNA protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Temperature-dependent organization in mitotic nucleus protein 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "TOM1",
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                {
                    "name": "D8035.1",
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                },
                {
                    "name": "SSR2",
                    "type": "synonym"
                },
                {
                    "name": "TOM1",
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                }
            ],
            "record_id": "Q03280-1",
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                {
                    "id": "0060309",
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            ]
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            ],
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                    "name": "Nonsense-mediated mRNA decay factor",
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                },
                {
                    "name": "similar to Est1p-like protein B isoform 2",
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                }
            ],
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                {
                    "name": "Smg5l1",
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                {
                    "name": "RGD1309489",
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                {
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            ],
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                {
                    "name": "ATP-dependent RNA helicase DDX3X isoform 2",
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                {
                    "name": "ATP-dependent RNA helicase DDX3X",
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                {
                    "name": "DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked",
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                {
                    "name": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked",
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                },
                {
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                }
            ],
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                {
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                {
                    "name": "RGD1309586",
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                {
                    "name": "2610020o08rik",
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                    "id": "0060309",
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                {
                    "name": "Transcription initiation factor TFIID subunit",
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                    "name": "RGD1562050",
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                {
                    "name": "Zfx",
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                    "name": "ATPase H(+)-transporting lysosomal accessory protein 2",
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                {
                    "name": "ATPase H(+)-transporting lysosomal-interacting protein 2",
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                {
                    "name": "ATPase, H(+)-transporting, lysosomal-interacting protein 2",
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                    "id": "0060309",
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                    "id": "0060309",
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                {
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                    "name": "RGD1562672",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
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            ],
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                {
                    "name": "Metabotropic glutamate receptor 4",
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                {
                    "name": "glutamate receptor, metabotropic 4",
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                {
                    "name": "mGluR4",
                    "type": "synonym"
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                {
                    "name": "metabotropic glutamate receptor 4 precursor",
                    "type": "synonym"
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                {
                    "name": "metabotropic glutamate receptor 4",
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                    "name": "Grm4",
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                },
                {
                    "name": "Gprc1d",
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                {
                    "name": "Grm4",
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                {
                    "name": "Mglur4",
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                {
                    "name": "mGluR4",
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            ],
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                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q9VHP0-1",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase bel",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "CG9748-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein belle",
                    "type": "synonym"
                },
                {
                    "name": "bel-PA",
                    "type": "synonym"
                },
                {
                    "name": "belle, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "belle",
                    "type": "synonym"
                },
                {
                    "name": "capon",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) L4740",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) S047110",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bel",
                    "type": "recommended"
                },
                {
                    "name": "BELLE",
                    "type": "synonym"
                },
                {
                    "name": "BEL",
                    "type": "synonym"
                },
                {
                    "name": "Belle",
                    "type": "synonym"
                },
                {
                    "name": "Bel",
                    "type": "synonym"
                },
                {
                    "name": "CG9748",
                    "type": "synonym"
                },
                {
                    "name": "DDX3",
                    "type": "synonym"
                },
                {
                    "name": "DmRH6",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9748",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9748",
                    "type": "synonym"
                },
                {
                    "name": "L3",
                    "type": "synonym"
                },
                {
                    "name": "anon-85Ab",
                    "type": "synonym"
                },
                {
                    "name": "bel",
                    "type": "synonym"
                },
                {
                    "name": "cap",
                    "type": "synonym"
                },
                {
                    "name": "cg9748",
                    "type": "synonym"
                },
                {
                    "name": "l(3)85Ac",
                    "type": "synonym"
                },
                {
                    "name": "l(3)L3",
                    "type": "synonym"
                },
                {
                    "name": "l(3)L4740",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S047110",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S097074",
                    "type": "synonym"
                },
                {
                    "name": "ms(3)Pneo85A",
                    "type": "synonym"
                },
                {
                    "name": "ms(3)neo30",
                    "type": "synonym"
                },
                {
                    "name": "psg9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHP0-1",
            "evidence": [
                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VB74-1",
            "uniprot_ac": "Q9VB74",
            "uniprot_id": "NKAP_DROME",
            "refseq_ac": "NP_651538",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NF-kappa-B-activating protein",
                    "type": "recommended"
                },
                {
                    "name": "CG6066-PA",
                    "type": "synonym"
                },
                {
                    "name": "NFKB activating protein",
                    "type": "synonym"
                },
                {
                    "name": "dNKAP",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nkap",
                    "type": "recommended"
                },
                {
                    "name": "CG6066",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6066",
                    "type": "synonym"
                },
                {
                    "name": "NFkb",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51123-1",
            "uniprot_ac": "P51123",
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            "refseq_ac": "NP_476956",
            "glycoprotein": "yes",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG17603-PA",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-230",
                    "type": "synonym"
                },
                {
                    "name": "TAFII250",
                    "type": "synonym"
                },
                {
                    "name": "TATA-associated factor 250",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 230 kDa",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 250kD",
                    "type": "synonym"
                },
                {
                    "name": "TFIID 230 kda subunit",
                    "type": "synonym"
                },
                {
                    "name": "Taf1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 230 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "cell lethal",
                    "type": "synonym"
                },
                {
                    "name": "p230",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of Ras85D 3-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Taf1",
                    "type": "recommended"
                },
                {
                    "name": "230",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS00004.13",
                    "type": "synonym"
                },
                {
                    "name": "CG17603",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17603",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17603",
                    "type": "synonym"
                },
                {
                    "name": "EfW1",
                    "type": "synonym"
                },
                {
                    "name": "SR3-5",
                    "type": "synonym"
                },
                {
                    "name": "TAF1",
                    "type": "synonym"
                },
                {
                    "name": "TAF200",
                    "type": "synonym"
                },
                {
                    "name": "TAF230",
                    "type": "synonym"
                },
                {
                    "name": "TAF250/230",
                    "type": "synonym"
                },
                {
                    "name": "TAF250",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-250",
                    "type": "synonym"
                },
                {
                    "name": "TAFII250",
                    "type": "synonym"
                },
                {
                    "name": "TAF[II]250",
                    "type": "synonym"
                },
                {
                    "name": "TAF[[II]]230",
                    "type": "synonym"
                },
                {
                    "name": "TAF[[II]]250/230",
                    "type": "synonym"
                },
                {
                    "name": "TAF[[II]]250",
                    "type": "synonym"
                },
                {
                    "name": "TAF[[II]]",
                    "type": "synonym"
                },
                {
                    "name": "TAF",
                    "type": "synonym"
                },
                {
                    "name": "TFIID TAF250",
                    "type": "synonym"
                },
                {
                    "name": "TFIID",
                    "type": "synonym"
                },
                {
                    "name": "Taf1p",
                    "type": "synonym"
                },
                {
                    "name": "Taf1",
                    "type": "synonym"
                },
                {
                    "name": "Taf200",
                    "type": "synonym"
                },
                {
                    "name": "Taf230",
                    "type": "synonym"
                },
                {
                    "name": "Taf250",
                    "type": "synonym"
                },
                {
                    "name": "Taf[[II]]250",
                    "type": "synonym"
                },
                {
                    "name": "cell",
                    "type": "synonym"
                },
                {
                    "name": "cel",
                    "type": "synonym"
                },
                {
                    "name": "d230",
                    "type": "synonym"
                },
                {
                    "name": "dTAF1",
                    "type": "synonym"
                },
                {
                    "name": "dTAF230",
                    "type": "synonym"
                },
                {
                    "name": "dTAF250",
                    "type": "synonym"
                },
                {
                    "name": "dTAFII250",
                    "type": "synonym"
                },
                {
                    "name": "dTAF[[II]]230",
                    "type": "synonym"
                },
                {
                    "name": "dTAF[[II]]250",
                    "type": "synonym"
                },
                {
                    "name": "dmTAF1",
                    "type": "synonym"
                },
                {
                    "name": "dmTAF[[II]]230",
                    "type": "synonym"
                },
                {
                    "name": "l(3)84Ab",
                    "type": "synonym"
                },
                {
                    "name": "p230",
                    "type": "synonym"
                },
                {
                    "name": "taf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P51123-1",
            "evidence": [
                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JF73-1",
            "uniprot_ac": "X2JF73",
            "uniprot_id": "X2JF73_DROME",
            "refseq_ac": "NP_001285288",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "HECT-type E3 ubiquitin transferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "CG8184-PH",
                    "type": "synonym"
                },
                {
                    "name": "HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "HUWE1-PH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HUWE1",
                    "type": "recommended"
                },
                {
                    "name": "CG8184",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8184",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8184",
                    "type": "synonym"
                },
                {
                    "name": "HUWE1",
                    "type": "synonym"
                },
                {
                    "name": "Huwe1",
                    "type": "synonym"
                },
                {
                    "name": "URE-B1/CG8184",
                    "type": "synonym"
                },
                {
                    "name": "dHUWE1",
                    "type": "synonym"
                },
                {
                    "name": "huwe1",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JF73-1",
            "evidence": [
                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W3Q0-1",
            "uniprot_ac": "Q9W3Q0",
            "uniprot_id": "Q9W3Q0_DROME",
            "refseq_ac": "NP_001245568",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12156-PB",
                    "type": "synonym"
                },
                {
                    "name": "Rab39, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Rab39, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Rab39-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rab39",
                    "type": "recommended"
                },
                {
                    "name": "24640395",
                    "type": "synonym"
                },
                {
                    "name": "AAF46271",
                    "type": "synonym"
                },
                {
                    "name": "CG12156",
                    "type": "synonym"
                },
                {
                    "name": "DmRab39",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12156",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12156",
                    "type": "synonym"
                },
                {
                    "name": "Rab39",
                    "type": "synonym"
                },
                {
                    "name": "rab39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W3Q0-1",
            "evidence": [
                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2P8-1",
            "uniprot_ac": "Q9W2P8",
            "uniprot_id": "Q9W2P8_DROME",
            "refseq_ac": "NP_788420",
            "glycoprotein": "yes",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33152-PA",
                    "type": "synonym"
                },
                {
                    "name": "Homeobrain",
                    "type": "synonym"
                },
                {
                    "name": "hbn-PA",
                    "type": "synonym"
                },
                {
                    "name": "homeobrain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hbn",
                    "type": "recommended"
                },
                {
                    "name": "57San",
                    "type": "synonym"
                },
                {
                    "name": "CG10614",
                    "type": "synonym"
                },
                {
                    "name": "CG15647",
                    "type": "synonym"
                },
                {
                    "name": "CG15648",
                    "type": "synonym"
                },
                {
                    "name": "CG33152",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33152",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33152",
                    "type": "synonym"
                },
                {
                    "name": "Hbn",
                    "type": "synonym"
                },
                {
                    "name": "hbn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2P8-1",
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                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06453-1",
            "uniprot_ac": "Q06453",
            "uniprot_id": "AL_DROME",
            "refseq_ac": "NP_722629",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein aristaless",
                    "type": "recommended"
                },
                {
                    "name": "CG3935-PA",
                    "type": "synonym"
                },
                {
                    "name": "al-PA",
                    "type": "synonym"
                },
                {
                    "name": "aristaless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "al",
                    "type": "recommended"
                },
                {
                    "name": "A1",
                    "type": "synonym"
                },
                {
                    "name": "AL",
                    "type": "synonym"
                },
                {
                    "name": "Al",
                    "type": "synonym"
                },
                {
                    "name": "CG3935",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3935",
                    "type": "synonym"
                },
                {
                    "name": "L13-4",
                    "type": "synonym"
                },
                {
                    "name": "al",
                    "type": "synonym"
                },
                {
                    "name": "lambda13-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06453-1",
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                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24210-3",
            "uniprot_ac": "Q24210",
            "uniprot_id": "CSKP_DROME",
            "refseq_ac": "NP_001097862",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripheral plasma membrane protein CASK",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.17",
                    "type": "synonym"
                },
                {
                    "name": "CAKI",
                    "type": "synonym"
                },
                {
                    "name": "CASK ortholog",
                    "type": "synonym"
                },
                {
                    "name": "CASK, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "CASK-PD",
                    "type": "synonym"
                },
                {
                    "name": "CG6703-PD",
                    "type": "synonym"
                },
                {
                    "name": "Calcium/calmodulin-dependent protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "Camguk/CASK adaptor protein",
                    "type": "synonym"
                },
                {
                    "name": "Camguk",
                    "type": "synonym"
                },
                {
                    "name": "calmodulin-dependent kinase",
                    "type": "synonym"
                },
                {
                    "name": "camguk",
                    "type": "synonym"
                },
                {
                    "name": "dCASK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CASK",
                    "type": "recommended"
                },
                {
                    "name": "CAKI",
                    "type": "synonym"
                },
                {
                    "name": "CAMGUK",
                    "type": "synonym"
                },
                {
                    "name": "CASK-beta",
                    "type": "synonym"
                },
                {
                    "name": "CASK",
                    "type": "synonym"
                },
                {
                    "name": "CG13412",
                    "type": "synonym"
                },
                {
                    "name": "CG13413",
                    "type": "synonym"
                },
                {
                    "name": "CG6703",
                    "type": "synonym"
                },
                {
                    "name": "CMG/CASK",
                    "type": "synonym"
                },
                {
                    "name": "CMG",
                    "type": "synonym"
                },
                {
                    "name": "CaSK",
                    "type": "synonym"
                },
                {
                    "name": "Caki",
                    "type": "synonym"
                },
                {
                    "name": "CamGUK",
                    "type": "synonym"
                },
                {
                    "name": "CamguK",
                    "type": "synonym"
                },
                {
                    "name": "Camguk",
                    "type": "synonym"
                },
                {
                    "name": "Cask",
                    "type": "synonym"
                },
                {
                    "name": "Cmg",
                    "type": "synonym"
                },
                {
                    "name": "DLin-2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6703",
                    "type": "synonym"
                },
                {
                    "name": "RE09582p",
                    "type": "synonym"
                },
                {
                    "name": "caki",
                    "type": "synonym"
                },
                {
                    "name": "camguk",
                    "type": "synonym"
                },
                {
                    "name": "cask",
                    "type": "synonym"
                },
                {
                    "name": "cmg",
                    "type": "synonym"
                },
                {
                    "name": "dCASK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24210-3",
            "evidence": [
                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHG4-1",
            "uniprot_ac": "Q9VHG4",
            "uniprot_id": "RENR_DROME",
            "refseq_ac": "NP_649876",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase H(+)-transporting accessory protein 2",
                    "type": "recommended"
                },
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                },
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                    "name": "drosophila homologue of prorenin receptor",
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                },
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                    "name": "vacuolar H[+] ATPase M8.9 accessory subunit",
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                {
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                {
                    "name": "VhaPRR",
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                },
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                    "name": "dPRR",
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                {
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            ],
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                    "id": "0060309",
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                {
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                {
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                },
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                },
                {
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                },
                {
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                },
                {
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                },
                {
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                {
                    "name": "renin/prorenin receptor",
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                },
                {
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                {
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                {
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                {
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                {
                    "name": "KIAA0662",
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            "uniprot_canonical_ac": "Q96DA2-1",
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            ],
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                    "name": "Ras-related protein Rab-39B",
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                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "Waisman syndrome",
                    "type": "synonym"
                },
                {
                    "name": "ras-related protein Rab-39B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAB39B",
                    "type": "recommended"
                },
                {
                    "name": "BGMR",
                    "type": "synonym"
                },
                {
                    "name": "MRX72",
                    "type": "synonym"
                },
                {
                    "name": "RAB39B",
                    "type": "synonym"
                },
                {
                    "name": "WSMN",
                    "type": "synonym"
                },
                {
                    "name": "WSN",
                    "type": "synonym"
                },
                {
                    "name": "XLID72",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96DA2-1",
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                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17010-1",
            "uniprot_ac": "P17010",
            "uniprot_id": "ZFX_HUMAN",
            "refseq_ac": "NP_001171555",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger X-chromosomal protein",
                    "type": "recommended"
                },
                {
                    "name": "X-linked zinc finger protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger X-chromosomal protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger X-chromosomal protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZFX",
                    "type": "recommended"
                },
                {
                    "name": "MRXS37",
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                },
                {
                    "name": "ZFX",
                    "type": "synonym"
                },
                {
                    "name": "ZNF926",
                    "type": "synonym"
                }
            ],
            "record_id": "P17010-1",
            "evidence": [
                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21675-2",
            "uniprot_ac": "P21675",
            "uniprot_id": "TAF1_HUMAN",
            "refseq_ac": "NP_620278",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription initiation factor TFIID subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.48",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Cell cycle gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "TAF(II)250",
                    "type": "synonym"
                },
                {
                    "name": "TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-250",
                    "type": "synonym"
                },
                {
                    "name": "TAFII250",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 250 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIID 250 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "cell cycle gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "cell cycle, G1 phase defect",
                    "type": "synonym"
                },
                {
                    "name": "complementation of cell cycle block, G1-to-S",
                    "type": "synonym"
                },
                {
                    "name": "p250",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor TFIID p250 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription initiation factor TFIID subunit 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAF1",
                    "type": "recommended"
                },
                {
                    "name": "BA2R",
                    "type": "synonym"
                },
                {
                    "name": "CCG1",
                    "type": "synonym"
                },
                {
                    "name": "CCGS",
                    "type": "synonym"
                },
                {
                    "name": "DYT3/TAF1",
                    "type": "synonym"
                },
                {
                    "name": "DYT3",
                    "type": "synonym"
                },
                {
                    "name": "KAT4",
                    "type": "synonym"
                },
                {
                    "name": "MRXS33",
                    "type": "synonym"
                },
                {
                    "name": "N-TAF1",
                    "type": "synonym"
                },
                {
                    "name": "NSCL2",
                    "type": "synonym"
                },
                {
                    "name": "OF",
                    "type": "synonym"
                },
                {
                    "name": "P250",
                    "type": "synonym"
                },
                {
                    "name": "TAF(II)250",
                    "type": "synonym"
                },
                {
                    "name": "TAF1",
                    "type": "synonym"
                },
                {
                    "name": "TAF2A",
                    "type": "synonym"
                },
                {
                    "name": "TAFII-250",
                    "type": "synonym"
                },
                {
                    "name": "TAFII250",
                    "type": "synonym"
                },
                {
                    "name": "XDP",
                    "type": "synonym"
                }
            ],
            "record_id": "P21675-2",
            "evidence": [
                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N5F7-1",
            "uniprot_ac": "Q8N5F7",
            "uniprot_id": "NKAP_HUMAN",
            "refseq_ac": "NP_078804",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NF-kappa-B-activating protein",
                    "type": "recommended"
                },
                {
                    "name": "NF-kappa-B-activating protein",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappaB activating protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NKAP",
                    "type": "recommended"
                },
                {
                    "name": "MRXSHD",
                    "type": "synonym"
                },
                {
                    "name": "NKAP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N5F7-1",
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                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00571-1",
            "uniprot_ac": "O00571",
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            "refseq_ac": "NP_001180345",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase DDX3X",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase DDX3X isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase DDX3X",
                    "type": "synonym"
                },
                {
                    "name": "CAP-Rf",
                    "type": "synonym"
                },
                {
                    "name": "DBX",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked",
                    "type": "synonym"
                },
                {
                    "name": "DEAD box protein 3, X-chromosomal",
                    "type": "synonym"
                },
                {
                    "name": "DEAD box, X isoform",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H box-3",
                    "type": "synonym"
                },
                {
                    "name": "HLP2",
                    "type": "synonym"
                },
                {
                    "name": "Helicase-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "helicase-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDX3X",
                    "type": "recommended"
                },
                {
                    "name": "CAP-Rf",
                    "type": "synonym"
                },
                {
                    "name": "DBX",
                    "type": "synonym"
                },
                {
                    "name": "DDX14",
                    "type": "synonym"
                },
                {
                    "name": "DDX3X",
                    "type": "synonym"
                },
                {
                    "name": "DDX3",
                    "type": "synonym"
                },
                {
                    "name": "HLP2",
                    "type": "synonym"
                },
                {
                    "name": "MRX102",
                    "type": "synonym"
                },
                {
                    "name": "MRXSSB",
                    "type": "synonym"
                }
            ],
            "record_id": "O00571-1",
            "evidence": [
                {
                    "id": "0060309",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060309"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060309"
}
