{
    "disease_id": "DOID:0110069",
    "recommended_name": {
        "id": "DOID:0110069",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110069",
        "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 4",
        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14."
    },
    "synonyms": [
        {
            "id": "DOID:0110069",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110069",
            "name": "FTDALS4",
            "description": ""
        },
        {
            "id": "MONDO:0014641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014641",
            "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 4",
            "description": "An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14."
        },
        {
            "id": "MONDO:0014641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014641",
            "name": "FTDALS4",
            "description": ""
        },
        {
            "id": "MONDO:0014641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014641",
            "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis 4",
            "description": ""
        },
        {
            "id": "MONDO:0014641",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014641",
            "name": "frontotemporal dementia and/or amyotrophic lateral sclerosis type 4",
            "description": ""
        },
        {
            "id": "MIM:616439",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616439",
            "name": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4",
            "description": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110069"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110069",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110069",
            "categories": []
        },
        {
            "id": "MONDO:0014641",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014641",
            "categories": []
        },
        {
            "id": "MIM:616439",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616439",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WUN2-1",
            "uniprot_ac": "Q9WUN2",
            "uniprot_id": "TBK1_MOUSE",
            "refseq_ac": "NP_062760",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase TBK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "T2K",
                    "type": "synonym"
                },
                {
                    "name": "TANK-binding kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase TBK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbk1",
                    "type": "recommended"
                },
                {
                    "name": "1200008B05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tbk1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUN2-1",
            "evidence": [
                {
                    "id": "0110069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UHD2-1",
            "uniprot_ac": "Q9UHD2",
            "uniprot_id": "TBK1_HUMAN",
            "refseq_ac": "NP_037386",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase TBK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "NF-kB-activating kinase",
                    "type": "synonym"
                },
                {
                    "name": "NF-kappa-B-activating kinase",
                    "type": "synonym"
                },
                {
                    "name": "T2K",
                    "type": "synonym"
                },
                {
                    "name": "TANK-binding kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase TBK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBK1",
                    "type": "recommended"
                },
                {
                    "name": "AIARV",
                    "type": "synonym"
                },
                {
                    "name": "FTDALS4",
                    "type": "synonym"
                },
                {
                    "name": "IIAE8",
                    "type": "synonym"
                },
                {
                    "name": "NAK",
                    "type": "synonym"
                },
                {
                    "name": "T2K",
                    "type": "synonym"
                },
                {
                    "name": "TBK1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHD2-1",
            "evidence": [
                {
                    "id": "616439",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616439"
                },
                {
                    "id": "0110069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7D3-1",
            "uniprot_ac": "D4A7D3",
            "uniprot_id": "D4A7D3_RAT",
            "refseq_ac": "NP_001100256",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase TBK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "T2K",
                    "type": "synonym"
                },
                {
                    "name": "TANK-binding kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase TBK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbk1",
                    "type": "recommended"
                },
                {
                    "name": "Tbk1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7D3-1",
            "evidence": [
                {
                    "id": "0110069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110069"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3Y8-1",
            "uniprot_ac": "Q9V3Y8",
            "uniprot_id": "Q9V3Y8_DROME",
            "refseq_ac": "NP_610048",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG2615-PC",
                    "type": "synonym"
                },
                {
                    "name": "I-kappaB kinase epsilon, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "I-kappaB kinase epsilon, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "IKK-related kinase",
                    "type": "synonym"
                },
                {
                    "name": "IKKepsilon-PC",
                    "type": "synonym"
                },
                {
                    "name": "IkappaB kinase-like 2",
                    "type": "synonym"
                },
                {
                    "name": "TANK-binding kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "apoptoxin 7",
                    "type": "synonym"
                },
                {
                    "name": "ik2",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) 38Ea",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IKKepsilon",
                    "type": "recommended"
                },
                {
                    "name": "38D.31",
                    "type": "synonym"
                },
                {
                    "name": "APTX7",
                    "type": "synonym"
                },
                {
                    "name": "CG2615",
                    "type": "synonym"
                },
                {
                    "name": "DIK2",
                    "type": "synonym"
                },
                {
                    "name": "Dik2",
                    "type": "synonym"
                },
                {
                    "name": "DmIKKepsilon/dIK2",
                    "type": "synonym"
                },
                {
                    "name": "DmIKKepsilon",
                    "type": "synonym"
                },
                {
                    "name": "DmIKK",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2615",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2615",
                    "type": "synonym"
                },
                {
                    "name": "Dmik2",
                    "type": "synonym"
                },
                {
                    "name": "IK2",
                    "type": "synonym"
                },
                {
                    "name": "IKKepsilon",
                    "type": "synonym"
                },
                {
                    "name": "IKK",
                    "type": "synonym"
                },
                {
                    "name": "Ik2/DmIKK",
                    "type": "synonym"
                },
                {
                    "name": "Ik2",
                    "type": "synonym"
                },
                {
                    "name": "dIK2",
                    "type": "synonym"
                },
                {
                    "name": "dIKKepsilon",
                    "type": "synonym"
                },
                {
                    "name": "dIKK",
                    "type": "synonym"
                },
                {
                    "name": "dTBK1",
                    "type": "synonym"
                },
                {
                    "name": "dik2",
                    "type": "synonym"
                },
                {
                    "name": "ik2",
                    "type": "synonym"
                },
                {
                    "name": "ikkepsilon",
                    "type": "synonym"
                },
                {
                    "name": "l(2)38Ea",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3Y8-1",
            "evidence": [
                {
                    "id": "0110069",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110069"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110069"
}