{
    "disease_id": "DOID:0061032",
    "recommended_name": {
        "id": "DOID:0061032",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061032",
        "name": "autosomal dominant intellectual developmental disorder 58",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SET gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "MONDO:0020847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020847",
            "name": "intellectual disability, autosomal dominant 58",
            "description": ""
        },
        {
            "id": "MONDO:0020847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020847",
            "name": "MENTAL RETARDATION, autosomal dominant 58",
            "description": ""
        },
        {
            "id": "MONDO:0020847",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020847",
            "name": "MRD58",
            "description": ""
        },
        {
            "id": "MIM:618106",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618106",
            "name": "Intellectual developmental disorder, autosomal dominant 58",
            "description": "Intellectual developmental disorder, autosomal dominant 58"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061032"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061032",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061032",
            "categories": []
        },
        {
            "id": "MONDO:0020847",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020847",
            "categories": []
        },
        {
            "id": "MIM:618106",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618106",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9EQU5-1",
            "uniprot_ac": "Q9EQU5",
            "uniprot_id": "SET_MOUSE",
            "refseq_ac": "NP_001191804",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SET",
                    "type": "recommended"
                },
                {
                    "name": "I-2PP2A",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatase 2A inhibitor I2PP2A",
                    "type": "synonym"
                },
                {
                    "name": "SET nuclear oncogene",
                    "type": "synonym"
                },
                {
                    "name": "SET translocation",
                    "type": "synonym"
                },
                {
                    "name": "TAF-I",
                    "type": "synonym"
                },
                {
                    "name": "Template-activating factor I",
                    "type": "synonym"
                },
                {
                    "name": "phosphatase 2A inhibitor I2PP2A",
                    "type": "synonym"
                },
                {
                    "name": "protein SET isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein SET",
                    "type": "synonym"
                },
                {
                    "name": "template-activating factor I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Set",
                    "type": "recommended"
                },
                {
                    "name": "2610030F17Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730420M11Rik",
                    "type": "synonym"
                },
                {
                    "name": "I-2PP2A",
                    "type": "synonym"
                },
                {
                    "name": "Set",
                    "type": "synonym"
                },
                {
                    "name": "StF-IT-1",
                    "type": "synonym"
                },
                {
                    "name": "TAF-I",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EQU5-1",
            "evidence": [
                {
                    "id": "0061032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01105-1",
            "uniprot_ac": "Q01105",
            "uniprot_id": "SET_HUMAN",
            "refseq_ac": "NP_001234930",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SET",
                    "type": "recommended"
                },
                {
                    "name": "HLA-DR-associated protein II",
                    "type": "synonym"
                },
                {
                    "name": "I-2PP2A",
                    "type": "synonym"
                },
                {
                    "name": "IGAAD",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of granzyme A-activated DNase",
                    "type": "synonym"
                },
                {
                    "name": "PHAPII",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatase 2A inhibitor I2PP2A",
                    "type": "synonym"
                },
                {
                    "name": "SET nuclear oncogene",
                    "type": "synonym"
                },
                {
                    "name": "SET translocation (myeloid leukemia-associated)",
                    "type": "synonym"
                },
                {
                    "name": "TAF-I",
                    "type": "synonym"
                },
                {
                    "name": "Template-Activating Factor-I, chromatin remodelling factor",
                    "type": "synonym"
                },
                {
                    "name": "Template-activating factor I",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of granzyme A-activated DNase",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor-2 of protein phosphatase-2A",
                    "type": "synonym"
                },
                {
                    "name": "phosphatase 2A inhibitor I2PP2A",
                    "type": "synonym"
                },
                {
                    "name": "protein SET isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase type 2A inhibitor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SET",
                    "type": "recommended"
                },
                {
                    "name": "2PP2A",
                    "type": "synonym"
                },
                {
                    "name": "I2PP2A",
                    "type": "synonym"
                },
                {
                    "name": "IGAAD",
                    "type": "synonym"
                },
                {
                    "name": "IPP2A2",
                    "type": "synonym"
                },
                {
                    "name": "MRD58",
                    "type": "synonym"
                },
                {
                    "name": "PHAPII",
                    "type": "synonym"
                },
                {
                    "name": "SET",
                    "type": "synonym"
                },
                {
                    "name": "TAF-IBETA",
                    "type": "synonym"
                },
                {
                    "name": "TAF-I",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01105-1",
            "evidence": [
                {
                    "id": "618106",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618106"
                },
                {
                    "id": "0061032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53853-1",
            "uniprot_ac": "P53853",
            "uniprot_id": "VPS75_YEAST",
            "refseq_ac": "NP_014153",
            "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": "Vacuolar protein sorting-associated protein 75",
                    "type": "recommended"
                },
                {
                    "name": "Vps75p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS75",
                    "type": "recommended"
                },
                {
                    "name": "N0890",
                    "type": "synonym"
                },
                {
                    "name": "VPS75",
                    "type": "synonym"
                }
            ],
            "record_id": "P53853-1",
            "evidence": [
                {
                    "id": "0061032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63945-1",
            "uniprot_ac": "Q63945",
            "uniprot_id": "SET_RAT",
            "refseq_ac": "NP_001012522",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SET",
                    "type": "recommended"
                },
                {
                    "name": "I-2PP2A",
                    "type": "synonym"
                },
                {
                    "name": "Liver regeneration-related protein LRRGR00002",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatase 2A inhibitor I2PP2A",
                    "type": "synonym"
                },
                {
                    "name": "SET nuclear oncogene",
                    "type": "synonym"
                },
                {
                    "name": "SET nuclear proto-oncogene",
                    "type": "synonym"
                },
                {
                    "name": "SET translocation",
                    "type": "synonym"
                },
                {
                    "name": "TAF-I",
                    "type": "synonym"
                },
                {
                    "name": "Template-activating factor I",
                    "type": "synonym"
                },
                {
                    "name": "liver regeneration-related protein LRRGR00002",
                    "type": "synonym"
                },
                {
                    "name": "phosphatase 2A inhibitor I2PP2A",
                    "type": "synonym"
                },
                {
                    "name": "protein SET",
                    "type": "synonym"
                },
                {
                    "name": "template-activating factor I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pkn3",
                    "type": "recommended"
                },
                {
                    "name": "Setl2",
                    "type": "recommended"
                },
                {
                    "name": "Setsip",
                    "type": "recommended"
                },
                {
                    "name": "Set",
                    "type": "recommended"
                },
                {
                    "name": "Ab1-115",
                    "type": "synonym"
                },
                {
                    "name": "SET",
                    "type": "synonym"
                },
                {
                    "name": "Setsip",
                    "type": "synonym"
                },
                {
                    "name": "Set",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63945-1",
            "evidence": [
                {
                    "id": "0061032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061032"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53997-1",
            "uniprot_ac": "P53997",
            "uniprot_id": "SET_DROME",
            "refseq_ac": "NP_650438",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SET",
                    "type": "recommended"
                },
                {
                    "name": "CG4299-PA",
                    "type": "synonym"
                },
                {
                    "name": "Set-PA",
                    "type": "synonym"
                },
                {
                    "name": "Set",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Set",
                    "type": "recommended"
                },
                {
                    "name": "CG4299",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4299",
                    "type": "synonym"
                },
                {
                    "name": "SET",
                    "type": "synonym"
                },
                {
                    "name": "Set",
                    "type": "synonym"
                },
                {
                    "name": "TAF-Ibeta",
                    "type": "synonym"
                },
                {
                    "name": "dSET",
                    "type": "synonym"
                },
                {
                    "name": "dSet",
                    "type": "synonym"
                }
            ],
            "record_id": "P53997-1",
            "evidence": [
                {
                    "id": "0061032",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061032"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061032"
}