{
    "disease_id": "DOID:0050961",
    "recommended_name": {
        "id": "DOID:0050961",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050961",
        "name": "spinocerebellar ataxia 11",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011464",
            "name": "spinocerebellar ataxia type 11",
            "description": "Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs."
        },
        {
            "id": "MONDO:0011464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011464",
            "name": "SCA11",
            "description": ""
        },
        {
            "id": "MONDO:0011464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011464",
            "name": "spinocerebellar ataxia type 11",
            "description": ""
        },
        {
            "id": "MONDO:0011464",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011464",
            "name": "spinocerebellar ataxia 11",
            "description": ""
        },
        {
            "id": "MIM:604432",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604432",
            "name": "Spinocerebellar ataxia 11",
            "description": "Spinocerebellar ataxia 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050961"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050961",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050961",
            "categories": []
        },
        {
            "id": "MONDO:0011464",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011464",
            "categories": []
        },
        {
            "id": "MIM:604432",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604432",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FE66-1",
            "uniprot_ac": "E7FE66",
            "uniprot_id": "E7FE66_DANRE",
            "refseq_ac": "XP_002665285",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "tau-tubulin kinase 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ttbk2a",
                    "type": "recommended"
                },
                {
                    "name": "ttbk2a",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FE66-1",
            "evidence": [
                {
                    "id": "0050961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050961"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1RC23-1",
            "uniprot_ac": "F1RC23",
            "uniprot_id": "F1RC23_DANRE",
            "refseq_ac": "NP_001313220",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "tau-tubulin kinase 2b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ttbk2b",
                    "type": "recommended"
                },
                {
                    "name": "fj62e10",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu1102",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-12h9.11",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-12h9.14",
                    "type": "synonym"
                },
                {
                    "name": "ttbk2b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj62e10",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RC23-1",
            "evidence": [
                {
                    "id": "0050961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050961"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UVR3-1",
            "uniprot_ac": "Q3UVR3",
            "uniprot_id": "TTBK2_MOUSE",
            "refseq_ac": "NP_001020027",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tau-tubulin kinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Protein bartleby",
                    "type": "synonym"
                },
                {
                    "name": "protein bartleby",
                    "type": "synonym"
                },
                {
                    "name": "tau-tubulin kinase 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttbk2",
                    "type": "recommended"
                },
                {
                    "name": "2610507N02Rik",
                    "type": "synonym"
                },
                {
                    "name": "B930008N24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bby",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0847",
                    "type": "synonym"
                },
                {
                    "name": "TTK",
                    "type": "synonym"
                },
                {
                    "name": "Ttbk1",
                    "type": "synonym"
                },
                {
                    "name": "Ttbk2",
                    "type": "synonym"
                },
                {
                    "name": "Ttbk",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0847",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UVR3-1",
            "evidence": [
                {
                    "id": "0050961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050961"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IQ55-1",
            "uniprot_ac": "Q6IQ55",
            "uniprot_id": "TTBK2_HUMAN",
            "refseq_ac": "NP_775771",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tau-tubulin kinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "tau-tubulin kinase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TTBK2",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0847",
                    "type": "synonym"
                },
                {
                    "name": "SCA11",
                    "type": "synonym"
                },
                {
                    "name": "TTBK2",
                    "type": "synonym"
                },
                {
                    "name": "TTBK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IQ55-1",
            "evidence": [
                {
                    "id": "604432",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604432"
                },
                {
                    "id": "0050961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050961"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M2A2-1",
            "uniprot_ac": "A0ABK0M2A2",
            "uniprot_id": "A0ABK0M2A2_RAT",
            "refseq_ac": "NP_001402630",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "tau-tubulin kinase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttbk2",
                    "type": "recommended"
                },
                {
                    "name": "Ttbk2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0M2A2-1",
            "evidence": [
                {
                    "id": "0050961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050961"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IMC6-1",
            "uniprot_ac": "Q8IMC6",
            "uniprot_id": "ASATR_DROME",
            "refseq_ac": "NP_726576",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tau-tubulin kinase homolog Asator",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Asator-PE",
                    "type": "synonym"
                },
                {
                    "name": "CG11533-PE",
                    "type": "synonym"
                },
                {
                    "name": "asator, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Asator",
                    "type": "recommended"
                },
                {
                    "name": "Asator",
                    "type": "synonym"
                },
                {
                    "name": "CG11533",
                    "type": "synonym"
                },
                {
                    "name": "CK I",
                    "type": "synonym"
                },
                {
                    "name": "CKI-like",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11533",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11533",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IMC6-1",
            "evidence": [
                {
                    "id": "0050961",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050961"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050961"
}