{
    "disease_id": "DOID:0050960",
    "recommended_name": {
        "id": "DOID:0050960",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050960",
        "name": "spinocerebellar ataxia 10",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0011330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011330",
            "name": "spinocerebellar ataxia type 10",
            "description": "Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances."
        },
        {
            "id": "MONDO:0011330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011330",
            "name": "SCA10",
            "description": ""
        },
        {
            "id": "MONDO:0011330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011330",
            "name": "spinocerebellar ataxia type 10",
            "description": ""
        },
        {
            "id": "MONDO:0011330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011330",
            "name": "spinocerebellar ataxia 10",
            "description": ""
        },
        {
            "id": "MIM:603516",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603516",
            "name": "Spinocerebellar ataxia 10",
            "description": "Spinocerebellar ataxia 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050960"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050960",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050960",
            "categories": []
        },
        {
            "id": "MONDO:0011330",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011330",
            "categories": []
        },
        {
            "id": "MIM:603516",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603516",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P28658-1",
            "uniprot_ac": "P28658",
            "uniprot_id": "ATX10_MOUSE",
            "refseq_ac": "NP_058539",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-10",
                    "type": "recommended"
                },
                {
                    "name": "Brain protein E46",
                    "type": "synonym"
                },
                {
                    "name": "Spinocerebellar ataxia type 10 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-10",
                    "type": "synonym"
                },
                {
                    "name": "brain protein E46",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia type 10 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "testis expressed gene 169",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atxn10",
                    "type": "recommended"
                },
                {
                    "name": "Atxn10",
                    "type": "synonym"
                },
                {
                    "name": "E46",
                    "type": "synonym"
                },
                {
                    "name": "Sca10",
                    "type": "synonym"
                },
                {
                    "name": "TEG-169",
                    "type": "synonym"
                },
                {
                    "name": "Tex169",
                    "type": "synonym"
                }
            ],
            "record_id": "P28658-1",
            "evidence": [
                {
                    "id": "0050960",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050960"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBB4-1",
            "uniprot_ac": "Q9UBB4",
            "uniprot_id": "ATX10_HUMAN",
            "refseq_ac": "NP_001161093",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-10",
                    "type": "recommended"
                },
                {
                    "name": "Brain protein E46 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Spinocerebellar ataxia type 10 protein",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-10 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "brain protein E46 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia type 10 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATXN10",
                    "type": "recommended"
                },
                {
                    "name": "ATX10",
                    "type": "synonym"
                },
                {
                    "name": "ATXN10",
                    "type": "synonym"
                },
                {
                    "name": "E46L",
                    "type": "synonym"
                },
                {
                    "name": "HUMEEP",
                    "type": "synonym"
                },
                {
                    "name": "SCA10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBB4-1",
            "evidence": [
                {
                    "id": "603516",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603516"
                },
                {
                    "id": "0050960",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050960"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25355-1",
            "uniprot_ac": "P25355",
            "uniprot_id": "ATX10_YEAST",
            "refseq_ac": "NP_009983",
            "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": "Ataxin-10 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Copper transport protein 86",
                    "type": "synonym"
                },
                {
                    "name": "Ctr86p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTR86",
                    "type": "recommended"
                },
                {
                    "name": "CTR86",
                    "type": "synonym"
                },
                {
                    "name": "YCR54C",
                    "type": "synonym"
                }
            ],
            "record_id": "P25355-1",
            "evidence": [
                {
                    "id": "0050960",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050960"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ER24-1",
            "uniprot_ac": "Q9ER24",
            "uniprot_id": "ATX10_RAT",
            "refseq_ac": "NP_579847",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-10",
                    "type": "recommended"
                },
                {
                    "name": "Neuronal beta-catenin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Spinocerebellar ataxia type 10 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "ataxin 10 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ataxin-10",
                    "type": "synonym"
                },
                {
                    "name": "neuronal beta-catenin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia 10 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia type 10 protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atxn10",
                    "type": "recommended"
                },
                {
                    "name": "Atxn10",
                    "type": "synonym"
                },
                {
                    "name": "Sca10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ER24-1",
            "evidence": [
                {
                    "id": "0050960",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050960"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZJ4-1",
            "uniprot_ac": "B7YZJ4",
            "uniprot_id": "B7YZJ4_DROME",
            "refseq_ac": "NP_001137693",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ataxin-10",
                    "type": "recommended"
                },
                {
                    "name": "CG4975-PE",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atxn10",
                    "type": "recommended"
                },
                {
                    "name": "Atxn10",
                    "type": "synonym"
                },
                {
                    "name": "CG4975",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4975",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4975",
                    "type": "synonym"
                }
            ],
            "record_id": "B7YZJ4-1",
            "evidence": [
                {
                    "id": "0050960",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050960"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050960"
}