{
    "disease_id": "DOID:0112029",
    "recommended_name": {
        "id": "DOID:0112029",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112029",
        "name": "non-syndromic X-linked intellectual disability 50",
        "description": "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0112029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112029",
            "name": "MRX50",
            "description": ""
        },
        {
            "id": "DOID:0112029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112029",
            "name": "X-linked intellectual developmental disorder 50",
            "description": ""
        },
        {
            "id": "DOID:0112029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112029",
            "name": "X-linked mental retardation 50",
            "description": ""
        },
        {
            "id": "DOID:0112029",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112029",
            "name": "XLID50",
            "description": ""
        },
        {
            "id": "MONDO:0010251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010251",
            "name": "intellectual disability, X-linked 50",
            "description": ""
        },
        {
            "id": "MONDO:0010251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010251",
            "name": "MRX50",
            "description": ""
        },
        {
            "id": "MONDO:0010251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010251",
            "name": "intellectual developmental disorder, X-linked 50",
            "description": ""
        },
        {
            "id": "MONDO:0010251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010251",
            "name": "intellectual disability, X-linked 50",
            "description": ""
        },
        {
            "id": "MONDO:0010251",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010251",
            "name": "mental retardation, X-linked 50",
            "description": ""
        },
        {
            "id": "MIM:300115",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300115",
            "name": "Intellectual developmental disorder, X-linked 50",
            "description": "Intellectual developmental disorder, X-linked 50"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112029"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112029",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112029",
            "categories": []
        },
        {
            "id": "MONDO:0010251",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010251",
            "categories": []
        },
        {
            "id": "MIM:300115",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300115",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0UXI4-1",
            "uniprot_ac": "B0UXI4",
            "uniprot_id": "B0UXI4_DANRE",
            "refseq_ac": "NP_001119909",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synapsin-1",
                    "type": "recommended"
                },
                {
                    "name": "Synapsin I",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "syn1",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-90n12.3",
                    "type": "synonym"
                },
                {
                    "name": "syn1",
                    "type": "synonym"
                }
            ],
            "record_id": "B0UXI4-1",
            "evidence": [
                {
                    "id": "0112029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2B960-1",
            "uniprot_ac": "A0A8M2B960",
            "uniprot_id": "A0A8M2B960_DANRE",
            "refseq_ac": "NP_001352583",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase HUWE1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase HUWE1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "HECT, UBA and WWE domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "HECT, UBA and WWE domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase HUWE1",
                    "type": "synonym"
                },
                {
                    "name": "Upstream regulatory element-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "huwe1",
                    "type": "recommended"
                },
                {
                    "name": "huwe1",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu595",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu633",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu703",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-242a8.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B960-1",
            "evidence": [
                {
                    "id": "0112029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88935-2",
            "uniprot_ac": "O88935",
            "uniprot_id": "SYN1_MOUSE",
            "refseq_ac": "NP_001104250",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synapsin-1",
                    "type": "recommended"
                },
                {
                    "name": "Synapsin I",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syn1",
                    "type": "recommended"
                },
                {
                    "name": "Syn-1",
                    "type": "synonym"
                },
                {
                    "name": "Syn1-S",
                    "type": "synonym"
                },
                {
                    "name": "Syn1",
                    "type": "synonym"
                }
            ],
            "record_id": "O88935-2",
            "evidence": [
                {
                    "id": "0112029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TMY8-1",
            "uniprot_ac": "Q7TMY8",
            "uniprot_id": "HUWE1_MOUSE",
            "refseq_ac": "NP_067498",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase HUWE1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase HUWE1",
                    "type": "synonym"
                },
                {
                    "name": "E3Histone",
                    "type": "synonym"
                },
                {
                    "name": "HECT, UBA and WWE domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase HUWE1",
                    "type": "synonym"
                },
                {
                    "name": "Mcl-1 ubiquitin ligase",
                    "type": "synonym"
                },
                {
                    "name": "URE-B1",
                    "type": "synonym"
                },
                {
                    "name": "URE-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Upstream regulatory element-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "upstream regulatory element binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Huwe1",
                    "type": "recommended"
                },
                {
                    "name": "5430439H10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Arf-bp1",
                    "type": "synonym"
                },
                {
                    "name": "C430014N20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm1718",
                    "type": "synonym"
                },
                {
                    "name": "Huwe1",
                    "type": "synonym"
                },
                {
                    "name": "Ib772",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0312",
                    "type": "synonym"
                },
                {
                    "name": "LASU1",
                    "type": "synonym"
                },
                {
                    "name": "Mule",
                    "type": "synonym"
                },
                {
                    "name": "Ureb1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TMY8-1",
            "evidence": [
                {
                    "id": "0112029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17600-1",
            "uniprot_ac": "P17600",
            "uniprot_id": "SYN1_HUMAN",
            "refseq_ac": "NP_008881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synapsin-1",
                    "type": "recommended"
                },
                {
                    "name": "Brain protein 4.1",
                    "type": "synonym"
                },
                {
                    "name": "Synapsin I",
                    "type": "synonym"
                },
                {
                    "name": "brain protein 4.1",
                    "type": "synonym"
                },
                {
                    "name": "synapsin Ib",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1 isoform Ia",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SYN1",
                    "type": "recommended"
                },
                {
                    "name": "EPILX1",
                    "type": "synonym"
                },
                {
                    "name": "EPILX",
                    "type": "synonym"
                },
                {
                    "name": "MRX50",
                    "type": "synonym"
                },
                {
                    "name": "SYN1a",
                    "type": "synonym"
                },
                {
                    "name": "SYN1b",
                    "type": "synonym"
                },
                {
                    "name": "SYN1",
                    "type": "synonym"
                },
                {
                    "name": "SYNI",
                    "type": "synonym"
                }
            ],
            "record_id": "P17600-1",
            "evidence": [
                {
                    "id": "300115",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300115"
                },
                {
                    "id": "0112029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03280-1",
            "uniprot_ac": "Q03280",
            "uniprot_id": "TOM1_YEAST",
            "refseq_ac": "NP_010745",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TOM1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TOM1",
                    "type": "synonym"
                },
                {
                    "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"
                }
            ],
            "gene_names": [
                {
                    "name": "TOM1",
                    "type": "recommended"
                },
                {
                    "name": "D8035.1",
                    "type": "synonym"
                },
                {
                    "name": "SSR2",
                    "type": "synonym"
                },
                {
                    "name": "TOM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03280-1",
            "evidence": [
                {
                    "id": "0112029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09951-1",
            "uniprot_ac": "P09951",
            "uniprot_id": "SYN1_RAT",
            "refseq_ac": "NP_001104252",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synapsin-1",
                    "type": "recommended"
                },
                {
                    "name": "Synapsin I",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "synapsin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syn1",
                    "type": "recommended"
                },
                {
                    "name": "Syn1",
                    "type": "synonym"
                }
            ],
            "record_id": "P09951-1",
            "evidence": [
                {
                    "id": "0112029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51593-1",
            "uniprot_ac": "P51593",
            "uniprot_id": "HUWE1_RAT",
            "refseq_ac": "XP_063136284",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase HUWE1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase HUWE1 isoform X6",
                    "type": "synonym"
                },
                {
                    "name": "HECT, UBA and WWE domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase HUWE1",
                    "type": "synonym"
                },
                {
                    "name": "URE-B1",
                    "type": "synonym"
                },
                {
                    "name": "URE-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Upstream regulatory element-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Huwe1",
                    "type": "recommended"
                },
                {
                    "name": "Huwe1",
                    "type": "synonym"
                },
                {
                    "name": "URE-B1",
                    "type": "synonym"
                },
                {
                    "name": "Ureb1",
                    "type": "synonym"
                }
            ],
            "record_id": "P51593-1",
            "evidence": [
                {
                    "id": "0112029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24546-1",
            "uniprot_ac": "Q24546",
            "uniprot_id": "SYN_DROME",
            "refseq_ac": "NP_731457",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Synapsin",
                    "type": "recommended"
                },
                {
                    "name": "CG3985-PA",
                    "type": "synonym"
                },
                {
                    "name": "Syn-PA",
                    "type": "synonym"
                },
                {
                    "name": "Syn1-S",
                    "type": "synonym"
                },
                {
                    "name": "Synapsin1",
                    "type": "synonym"
                },
                {
                    "name": "synapsin I",
                    "type": "synonym"
                },
                {
                    "name": "synapsin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "synapsin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syn",
                    "type": "recommended"
                },
                {
                    "name": "CG3985",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3985",
                    "type": "synonym"
                },
                {
                    "name": "Dsyn-1",
                    "type": "synonym"
                },
                {
                    "name": "SYN1",
                    "type": "synonym"
                },
                {
                    "name": "SYN2",
                    "type": "synonym"
                },
                {
                    "name": "SYN",
                    "type": "synonym"
                },
                {
                    "name": "Syn-1",
                    "type": "synonym"
                },
                {
                    "name": "Syn-2",
                    "type": "synonym"
                },
                {
                    "name": "Syn",
                    "type": "synonym"
                },
                {
                    "name": "synapsin",
                    "type": "synonym"
                },
                {
                    "name": "syn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24546-1",
            "evidence": [
                {
                    "id": "0112029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112029"
                }
            ]
        },
        {
            "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": "0112029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53539-1",
            "uniprot_ac": "P53539",
            "uniprot_id": "FOSB_HUMAN",
            "refseq_ac": "NP_001107643",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein FosB",
                    "type": "recommended"
                },
                {
                    "name": "FBJ murine osteosarcoma viral oncogene homolog B",
                    "type": "synonym"
                },
                {
                    "name": "FosB proto-oncogene, AP-1 trancription factor subunit",
                    "type": "synonym"
                },
                {
                    "name": "FosB proto-oncogene, AP-1 transcription factor subunit",
                    "type": "synonym"
                },
                {
                    "name": "G0/G1 switch regulatory protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor AP-1 subunit FosB",
                    "type": "synonym"
                },
                {
                    "name": "activator protein 1",
                    "type": "synonym"
                },
                {
                    "name": "protein FosB isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor AP-1 subunit FosB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOSB",
                    "type": "recommended"
                },
                {
                    "name": "AP-1",
                    "type": "synonym"
                },
                {
                    "name": "FOSB",
                    "type": "synonym"
                },
                {
                    "name": "G0S3",
                    "type": "synonym"
                },
                {
                    "name": "GOS3",
                    "type": "synonym"
                },
                {
                    "name": "GOSB",
                    "type": "synonym"
                }
            ],
            "record_id": "P53539-1",
            "evidence": [
                {
                    "id": "0112029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112029"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z6Z7-1",
            "uniprot_ac": "Q7Z6Z7",
            "uniprot_id": "HUWE1_HUMAN",
            "refseq_ac": "NP_113584",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase HUWE1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.26",
                    "type": "synonym"
                },
                {
                    "name": "ARF-BP1",
                    "type": "synonym"
                },
                {
                    "name": "ARF-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "BJ-HCC-24 tumor antigen",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase HUWE1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "HECT domain protein LASU1",
                    "type": "synonym"
                },
                {
                    "name": "HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "HECT, UBA and WWE domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "HECT-type E3 ubiquitin transferase HUWE1",
                    "type": "synonym"
                },
                {
                    "name": "HectH9",
                    "type": "synonym"
                },
                {
                    "name": "Homologous to E6AP carboxyl terminus homologous protein 9",
                    "type": "synonym"
                },
                {
                    "name": "LASU1",
                    "type": "synonym"
                },
                {
                    "name": "Large structure of UREB1",
                    "type": "synonym"
                },
                {
                    "name": "Mcl-1 ubiquitin ligase E3",
                    "type": "synonym"
                },
                {
                    "name": "Mule",
                    "type": "synonym"
                },
                {
                    "name": "URE-B1",
                    "type": "synonym"
                },
                {
                    "name": "URE-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Upstream regulatory element-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "homologous to E6AP carboxyl terminus homologous protein 9",
                    "type": "synonym"
                },
                {
                    "name": "large structure of UREB1",
                    "type": "synonym"
                },
                {
                    "name": "upstream regulatory element-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HUWE1",
                    "type": "recommended"
                },
                {
                    "name": "ARF-BP1",
                    "type": "synonym"
                },
                {
                    "name": "HECTH9",
                    "type": "synonym"
                },
                {
                    "name": "HSPC272",
                    "type": "synonym"
                },
                {
                    "name": "HUWE1",
                    "type": "synonym"
                },
                {
                    "name": "Ib772",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0312",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1578",
                    "type": "synonym"
                },
                {
                    "name": "LASU1",
                    "type": "synonym"
                },
                {
                    "name": "MRXST",
                    "type": "synonym"
                },
                {
                    "name": "MULE",
                    "type": "synonym"
                },
                {
                    "name": "URE-B1",
                    "type": "synonym"
                },
                {
                    "name": "UREB1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z6Z7-1",
            "evidence": [
                {
                    "id": "0112029",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112029"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112029"
}