{
    "disease_id": "DOID:0111693",
    "recommended_name": {
        "id": "DOID:0111693",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111693",
        "name": "familial adult myoclonic epilepsy 4",
        "description": "A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111693",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111693",
            "name": "FAME4",
            "description": ""
        },
        {
            "id": "DOID:0111693",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111693",
            "name": "FCMTE4",
            "description": ""
        },
        {
            "id": "DOID:0111693",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111693",
            "name": "familial cortical myoclonic tremor and epilepsy 4",
            "description": ""
        },
        {
            "id": "MONDO:0014055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014055",
            "name": "epilepsy, familial adult myoclonic, 4",
            "description": ""
        },
        {
            "id": "MONDO:0014055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014055",
            "name": "FAME4",
            "description": ""
        },
        {
            "id": "MONDO:0014055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014055",
            "name": "epilepsy, myoclonic, familial adult, 4",
            "description": ""
        },
        {
            "id": "MONDO:0014055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014055",
            "name": "epilepsy, familial ADULT myoclonic, 4",
            "description": ""
        },
        {
            "id": "MIM:615127",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615127",
            "name": "Epilepsy, familial adult myoclonic, 4",
            "description": "Epilepsy, familial adult myoclonic, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111693"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111693",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111693",
            "categories": []
        },
        {
            "id": "MONDO:0014055",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014055",
            "categories": []
        },
        {
            "id": "MIM:615127",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615127",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B644-1",
            "uniprot_ac": "A0ACD6B644",
            "uniprot_id": "A0ACD6B644_DANRE",
            "refseq_ac": "XP_073785406",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "YEATS domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "YEATS domain-containing protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "yeats2",
                    "type": "recommended"
                },
                {
                    "name": "yeats2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B644-1",
            "evidence": [
                {
                    "id": "0111693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TUF7-1",
            "uniprot_ac": "Q3TUF7",
            "uniprot_id": "YETS2_MOUSE",
            "refseq_ac": "NP_001028409",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "YEATS domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "YEATS domain-containing protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "YEATS domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Yeats2",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa1197",
                    "type": "synonym"
                },
                {
                    "name": "Yeats2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1197",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TUF7-1",
            "evidence": [
                {
                    "id": "0111693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULM3-1",
            "uniprot_ac": "Q9ULM3",
            "uniprot_id": "YETS2_HUMAN",
            "refseq_ac": "NP_060493",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "YEATS domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "YEATS domain-containing protein 2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "YEATS domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YEATS2",
                    "type": "recommended"
                },
                {
                    "name": "FAME4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1197",
                    "type": "synonym"
                },
                {
                    "name": "YEATS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULM3-1",
            "evidence": [
                {
                    "id": "615127",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615127"
                },
                {
                    "id": "0111693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35189-1",
            "uniprot_ac": "P35189",
            "uniprot_id": "TAF14_YEAST",
            "refseq_ac": "NP_015196",
            "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": "Transcription initiation factor TFIID subunit 14",
                    "type": "recommended"
                },
                {
                    "name": "Actin non-complementing mutant 1",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome stability protein 10",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF chromatin-remodeling complex subunit TAF14",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF complex 29 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF complex subunit TAF14",
                    "type": "synonym"
                },
                {
                    "name": "TATA-binding protein-associated factor TAF14",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 14",
                    "type": "synonym"
                },
                {
                    "name": "TBP-associated factor 30 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor G 30 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Transcription initiation factor TFIIF 30 kDa subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAF14",
                    "type": "recommended"
                },
                {
                    "name": "ANC1",
                    "type": "synonym"
                },
                {
                    "name": "CST10",
                    "type": "synonym"
                },
                {
                    "name": "SWP29",
                    "type": "synonym"
                },
                {
                    "name": "TAF14",
                    "type": "synonym"
                },
                {
                    "name": "TAF30",
                    "type": "synonym"
                },
                {
                    "name": "TFG3",
                    "type": "synonym"
                }
            ],
            "record_id": "P35189-1",
            "evidence": [
                {
                    "id": "0111693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZPX3-1",
            "uniprot_ac": "A0A8I5ZPX3",
            "uniprot_id": "A0A8I5ZPX3_RAT",
            "refseq_ac": "XP_063126781",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "YEATS domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "YEATS domain-containing protein 2 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Yeats2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1566176",
                    "type": "synonym"
                },
                {
                    "name": "Yeats2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZPX3-1",
            "evidence": [
                {
                    "id": "0111693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111693"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLL1-1",
            "uniprot_ac": "Q9VLL1",
            "uniprot_id": "Q9VLL1_DROME",
            "refseq_ac": "NP_609228",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG13400-PA",
                    "type": "synonym"
                },
                {
                    "name": "D12-PA",
                    "type": "synonym"
                },
                {
                    "name": "D12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "D12",
                    "type": "recommended"
                },
                {
                    "name": "CG13400",
                    "type": "synonym"
                },
                {
                    "name": "D12",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13400",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13400",
                    "type": "synonym"
                },
                {
                    "name": "Yeats2",
                    "type": "synonym"
                },
                {
                    "name": "dYeats2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLL1-1",
            "evidence": [
                {
                    "id": "0111693",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111693"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111693"
}