{
    "disease_id": "DOID:0050956",
    "recommended_name": {
        "id": "DOID:0050956",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050956",
        "name": "spinocerebellar ataxia 6",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0008457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008457",
            "name": "spinocerebellar ataxia type 6",
            "description": "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus."
        },
        {
            "id": "MONDO:0008457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008457",
            "name": "CACNA1A autosomal dominant cerebellar ataxia type III",
            "description": ""
        },
        {
            "id": "MONDO:0008457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008457",
            "name": "SCA6",
            "description": ""
        },
        {
            "id": "MONDO:0008457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008457",
            "name": "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A",
            "description": ""
        },
        {
            "id": "MONDO:0008457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008457",
            "name": "spinocerebellar ataxia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0008457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008457",
            "name": "spinocerebellar ataxia 6",
            "description": ""
        },
        {
            "id": "MIM:183086",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/183086",
            "name": "Spinocerebellar ataxia 6",
            "description": "Spinocerebellar ataxia 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050956"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050956",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050956",
            "categories": []
        },
        {
            "id": "MONDO:0008457",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008457",
            "categories": []
        },
        {
            "id": "MIM:183086",
            "database": "MIM",
            "url": "https://www.omim.org/entry/183086",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97445-1",
            "uniprot_ac": "P97445",
            "uniprot_id": "CAC1A_MOUSE",
            "refseq_ac": "NP_031604",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A",
                    "type": "recommended"
                },
                {
                    "name": "BI",
                    "type": "synonym"
                },
                {
                    "name": "Brain calcium channel I",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.1",
                    "type": "synonym"
                },
                {
                    "name": "brain calcium channel I",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, L type, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "leaner",
                    "type": "synonym"
                },
                {
                    "name": "rocker",
                    "type": "synonym"
                },
                {
                    "name": "tottering",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent P/Q-type calcium channel subunit alpha-1A",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha Cav2.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1a",
                    "type": "recommended"
                },
                {
                    "name": "APCA",
                    "type": "synonym"
                },
                {
                    "name": "BI",
                    "type": "synonym"
                },
                {
                    "name": "Caca1a",
                    "type": "synonym"
                },
                {
                    "name": "Cach4",
                    "type": "synonym"
                },
                {
                    "name": "Cacn3",
                    "type": "synonym"
                },
                {
                    "name": "Cacna1a",
                    "type": "synonym"
                },
                {
                    "name": "Cacnl1a4",
                    "type": "synonym"
                },
                {
                    "name": "Cav2.1",
                    "type": "synonym"
                },
                {
                    "name": "Ccha1a",
                    "type": "synonym"
                },
                {
                    "name": "EA2",
                    "type": "synonym"
                },
                {
                    "name": "FHM",
                    "type": "synonym"
                },
                {
                    "name": "HPCA",
                    "type": "synonym"
                },
                {
                    "name": "MHP1",
                    "type": "synonym"
                },
                {
                    "name": "MHP",
                    "type": "synonym"
                },
                {
                    "name": "SCA6",
                    "type": "synonym"
                },
                {
                    "name": "alpha1A",
                    "type": "synonym"
                },
                {
                    "name": "la",
                    "type": "synonym"
                },
                {
                    "name": "nmf352",
                    "type": "synonym"
                },
                {
                    "name": "rkr",
                    "type": "synonym"
                },
                {
                    "name": "smrl",
                    "type": "synonym"
                },
                {
                    "name": "tg",
                    "type": "synonym"
                }
            ],
            "record_id": "P97445-1",
            "evidence": [
                {
                    "id": "0050956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050956"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00555-8",
            "uniprot_ac": "O00555",
            "uniprot_id": "CAC1A_HUMAN",
            "refseq_ac": "NP_000059",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A",
                    "type": "recommended"
                },
                {
                    "name": "BI",
                    "type": "synonym"
                },
                {
                    "name": "Brain calcium channel I",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.1",
                    "type": "synonym"
                },
                {
                    "name": "brain calcium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "brain calcium channel I",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, L type, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, P/Q type, alpha 1A subunit",
                    "type": "synonym"
                },
                {
                    "name": "fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent P/Q-type calcium channel subunit alpha-1A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent P/Q-type calcium channel subunit alpha-1A",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha Cav2.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNA1A",
                    "type": "recommended"
                },
                {
                    "name": "APCA",
                    "type": "synonym"
                },
                {
                    "name": "BI",
                    "type": "synonym"
                },
                {
                    "name": "CACH4",
                    "type": "synonym"
                },
                {
                    "name": "CACN3",
                    "type": "synonym"
                },
                {
                    "name": "CACNA1A",
                    "type": "synonym"
                },
                {
                    "name": "CACNL1A4",
                    "type": "synonym"
                },
                {
                    "name": "CAV2.1",
                    "type": "synonym"
                },
                {
                    "name": "DEE42",
                    "type": "synonym"
                },
                {
                    "name": "EA2",
                    "type": "synonym"
                },
                {
                    "name": "EIEE42",
                    "type": "synonym"
                },
                {
                    "name": "FHM",
                    "type": "synonym"
                },
                {
                    "name": "HPCA",
                    "type": "synonym"
                },
                {
                    "name": "MHP1",
                    "type": "synonym"
                },
                {
                    "name": "MHP",
                    "type": "synonym"
                },
                {
                    "name": "SCA6",
                    "type": "synonym"
                }
            ],
            "record_id": "O00555-8",
            "evidence": [
                {
                    "id": "183086",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/183086"
                },
                {
                    "id": "0050956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050956"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54282-1",
            "uniprot_ac": "P54282",
            "uniprot_id": "CAC1A_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent P/Q-type calcium channel subunit alpha-1A",
                    "type": "recommended"
                },
                {
                    "name": "BI",
                    "type": "synonym"
                },
                {
                    "name": "Brain calcium channel I",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "RBA-I",
                    "type": "synonym"
                },
                {
                    "name": "Rat brain class A",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1a",
                    "type": "recommended"
                },
                {
                    "name": "Cach4",
                    "type": "synonym"
                },
                {
                    "name": "Cacn3",
                    "type": "synonym"
                },
                {
                    "name": "Cacnl1a4",
                    "type": "synonym"
                }
            ],
            "record_id": "P54282-1",
            "evidence": [
                {
                    "id": "0050956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050956"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P91645-1",
            "uniprot_ac": "P91645",
            "uniprot_id": "CAC1A_DROME",
            "refseq_ac": "NP_001245639",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent calcium channel type A subunit alpha-1",
                    "type": "recommended"
                },
                {
                    "name": "CG43368-PO",
                    "type": "synonym"
                },
                {
                    "name": "Dmca1A",
                    "type": "synonym"
                },
                {
                    "name": "Protein cacophony",
                    "type": "synonym"
                },
                {
                    "name": "Protein nightblind A",
                    "type": "synonym"
                },
                {
                    "name": "Protein no-on-transient B",
                    "type": "synonym"
                },
                {
                    "name": "cac-PO",
                    "type": "synonym"
                },
                {
                    "name": "cacaphony",
                    "type": "synonym"
                },
                {
                    "name": "cacophany",
                    "type": "synonym"
                },
                {
                    "name": "cacophony, isoform O",
                    "type": "synonym"
                },
                {
                    "name": "cacophony",
                    "type": "synonym"
                },
                {
                    "name": "cactus",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel alpha1 subunit, type A",
                    "type": "synonym"
                },
                {
                    "name": "lamina-degeneration",
                    "type": "synonym"
                },
                {
                    "name": "lethal(1)11Aa",
                    "type": "synonym"
                },
                {
                    "name": "night blind A",
                    "type": "synonym"
                },
                {
                    "name": "nightblind A",
                    "type": "synonym"
                },
                {
                    "name": "no-on-transient B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cac",
                    "type": "recommended"
                },
                {
                    "name": "13",
                    "type": "synonym"
                },
                {
                    "name": "CAC",
                    "type": "synonym"
                },
                {
                    "name": "CG1522",
                    "type": "synonym"
                },
                {
                    "name": "CG15928",
                    "type": "synonym"
                },
                {
                    "name": "CG43368",
                    "type": "synonym"
                },
                {
                    "name": "Ca-alpha1A",
                    "type": "synonym"
                },
                {
                    "name": "Ca[[V]]2.1",
                    "type": "synonym"
                },
                {
                    "name": "Cac1",
                    "type": "synonym"
                },
                {
                    "name": "Cactus",
                    "type": "synonym"
                },
                {
                    "name": "Cac",
                    "type": "synonym"
                },
                {
                    "name": "DMCA1A",
                    "type": "synonym"
                },
                {
                    "name": "Dmca1A",
                    "type": "synonym"
                },
                {
                    "name": "Dmcalpha1A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43368",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43368",
                    "type": "synonym"
                },
                {
                    "name": "EE171",
                    "type": "synonym"
                },
                {
                    "name": "H18",
                    "type": "synonym"
                },
                {
                    "name": "H47",
                    "type": "synonym"
                },
                {
                    "name": "L13",
                    "type": "synonym"
                },
                {
                    "name": "P18",
                    "type": "synonym"
                },
                {
                    "name": "alpha1A",
                    "type": "synonym"
                },
                {
                    "name": "cac1",
                    "type": "synonym"
                },
                {
                    "name": "cactus",
                    "type": "synonym"
                },
                {
                    "name": "cact",
                    "type": "synonym"
                },
                {
                    "name": "cac",
                    "type": "synonym"
                },
                {
                    "name": "can",
                    "type": "synonym"
                },
                {
                    "name": "dCac1",
                    "type": "synonym"
                },
                {
                    "name": "dmca1A",
                    "type": "synonym"
                },
                {
                    "name": "l(1)11Aa",
                    "type": "synonym"
                },
                {
                    "name": "l(1)13",
                    "type": "synonym"
                },
                {
                    "name": "l(1)L13",
                    "type": "synonym"
                },
                {
                    "name": "ldg",
                    "type": "synonym"
                },
                {
                    "name": "nbA",
                    "type": "synonym"
                },
                {
                    "name": "nonB",
                    "type": "synonym"
                },
                {
                    "name": "opm18",
                    "type": "synonym"
                },
                {
                    "name": "opm47",
                    "type": "synonym"
                }
            ],
            "record_id": "P91645-1",
            "evidence": [
                {
                    "id": "0050956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050956"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99807-1",
            "uniprot_ac": "Q99807",
            "uniprot_id": "COQ7_HUMAN",
            "refseq_ac": "NP_001177912",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.14.13.253",
                    "type": "synonym"
                },
                {
                    "name": "3-demethoxyubiquinone 3-hydroxylase (NADH)",
                    "type": "synonym"
                },
                {
                    "name": "5-demethoxyubiquinone hydroxylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "COQ7 coenzyme Q, 7 homolog ubiquinone",
                    "type": "synonym"
                },
                {
                    "name": "DMQ hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Timing protein clk-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis monooxygenase COQ7",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q biosynthesis protein 7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q7 homolog, ubiquinone",
                    "type": "synonym"
                },
                {
                    "name": "placental protein KG-20",
                    "type": "synonym"
                },
                {
                    "name": "timing protein clk-1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis monooxygenase COQ7",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ7 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ7",
                    "type": "recommended"
                },
                {
                    "name": "CAT5",
                    "type": "synonym"
                },
                {
                    "name": "COQ10D8",
                    "type": "synonym"
                },
                {
                    "name": "COQ7",
                    "type": "synonym"
                },
                {
                    "name": "HMNR9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99807-1",
            "evidence": [
                {
                    "id": "0050956",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050956"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050956"
}