{
    "disease_id": "DOID:0081421",
    "recommended_name": {
        "id": "DOID:0081421",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081421",
        "name": "familial focal epilepsy with variable foci 1",
        "description": "A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12."
    },
    "synonyms": [
        {
            "id": "MONDO:0024556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024556",
            "name": "epilepsy, familial focal, with variable foci 1",
            "description": "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene."
        },
        {
            "id": "MONDO:0024556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024556",
            "name": "DEPDC5 epilepsy, familial focal, with variable foci",
            "description": ""
        },
        {
            "id": "MONDO:0024556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024556",
            "name": "epilepsy, familial focal, with variable foci 1",
            "description": ""
        },
        {
            "id": "MONDO:0024556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024556",
            "name": "epilepsy, familial focal, with variable foci caused by mutation in DEPDC5",
            "description": ""
        },
        {
            "id": "MONDO:0024556",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024556",
            "name": "FFEVF1",
            "description": ""
        },
        {
            "id": "MIM:604364",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604364",
            "name": "Epilepsy, familial focal, with variable foci 1",
            "description": "Epilepsy, familial focal, with variable foci 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081421"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081421",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081421",
            "categories": []
        },
        {
            "id": "MONDO:0024556",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024556",
            "categories": []
        },
        {
            "id": "MIM:604364",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604364",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QKY4-1",
            "uniprot_ac": "A0A8M9QKY4",
            "uniprot_id": "A0A8M9QKY4_DANRE",
            "refseq_ac": "XP_021334975",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATOR1 complex protein DEPDC5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "depdc5",
                    "type": "recommended"
                },
                {
                    "name": "depdc5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QKY4-1",
            "evidence": [
                {
                    "id": "0081421",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081421"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61460-1",
            "uniprot_ac": "P61460",
            "uniprot_id": "DEPD5_MOUSE",
            "refseq_ac": "NP_001164038",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATOR1 complex protein DEPDC5",
                    "type": "recommended"
                },
                {
                    "name": "DEP domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "GATOR complex protein DEPDC5",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein DEPDC5 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein DEPDC5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Depdc5",
                    "type": "recommended"
                },
                {
                    "name": "Depdc5",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0645",
                    "type": "synonym"
                }
            ],
            "record_id": "P61460-1",
            "evidence": [
                {
                    "id": "0081421",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081421"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75140-10",
            "uniprot_ac": "O75140",
            "uniprot_id": "DEPD5_HUMAN",
            "refseq_ac": "NP_001007189",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATOR1 complex protein DEPDC5",
                    "type": "recommended"
                },
                {
                    "name": "DEP domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "GATOR complex protein DEPDC5",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein DEPDC5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein DEPDC5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DEPDC5",
                    "type": "recommended"
                },
                {
                    "name": "DEE111",
                    "type": "synonym"
                },
                {
                    "name": "DEP.5",
                    "type": "synonym"
                },
                {
                    "name": "DEPDC5",
                    "type": "synonym"
                },
                {
                    "name": "FFEVF1",
                    "type": "synonym"
                },
                {
                    "name": "FFEVF",
                    "type": "synonym"
                },
                {
                    "name": "FPEVF",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0645",
                    "type": "synonym"
                }
            ],
            "record_id": "O75140-10",
            "evidence": [
                {
                    "id": "604364",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604364"
                },
                {
                    "id": "0081421",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081421"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47170-1",
            "uniprot_ac": "P47170",
            "uniprot_id": "IML1_YEAST",
            "refseq_ac": "NP_012672",
            "glycoprotein": "yes",
            "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 membrane-associated protein IML1",
                    "type": "recommended"
                },
                {
                    "name": "GTPase-activating protein IML1",
                    "type": "synonym"
                },
                {
                    "name": "Increased minichromosome loss protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SEH-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IML1",
                    "type": "recommended"
                },
                {
                    "name": "IML1",
                    "type": "synonym"
                },
                {
                    "name": "J2129",
                    "type": "synonym"
                },
                {
                    "name": "SEA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P47170-1",
            "evidence": [
                {
                    "id": "0081421",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081421"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5YBC5-1",
            "uniprot_ac": "A0A8I5YBC5",
            "uniprot_id": "A0A8I5YBC5_RAT",
            "refseq_ac": "NP_001423834",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATOR1 complex protein DEPDC5",
                    "type": "recommended"
                },
                {
                    "name": "DEP domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "GATOR complex protein DEPDC5",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein DEPDC5 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1 complex protein DEPDC5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Depdc5",
                    "type": "recommended"
                },
                {
                    "name": "Depdc5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5YBC5-1",
            "evidence": [
                {
                    "id": "0081421",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081421"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0E3-1",
            "uniprot_ac": "Q9W0E3",
            "uniprot_id": "IML1_DROME",
            "refseq_ac": "NP_647618",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATOR complex protein Iml1",
                    "type": "recommended"
                },
                {
                    "name": "CG12090-PB",
                    "type": "synonym"
                },
                {
                    "name": "Iml1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Increased minichromosome loss 1",
                    "type": "synonym"
                },
                {
                    "name": "increased minichromosome loss 1, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Iml1",
                    "type": "recommended"
                },
                {
                    "name": "CG12090",
                    "type": "synonym"
                },
                {
                    "name": "DEPDC5",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12090",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12090",
                    "type": "synonym"
                },
                {
                    "name": "GATOR1",
                    "type": "synonym"
                },
                {
                    "name": "IMl1",
                    "type": "synonym"
                },
                {
                    "name": "Iml1",
                    "type": "synonym"
                },
                {
                    "name": "SEA1",
                    "type": "synonym"
                },
                {
                    "name": "iml1",
                    "type": "synonym"
                },
                {
                    "name": "iml",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0E3-1",
            "evidence": [
                {
                    "id": "0081421",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081421"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081421"
}