{
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        "description": "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13."
    },
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        },
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        },
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        },
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            "description": ""
        },
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        },
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            ]
        },
        {
            "uniprot_canonical_ac": "Q07652-1",
            "uniprot_ac": "Q07652",
            "uniprot_id": "CAC1E_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 R-type calcium channel subunit alpha-1E",
                    "type": "recommended"
                },
                {
                    "name": "BII",
                    "type": "synonym"
                },
                {
                    "name": "Brain calcium channel II",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 6",
                    "type": "synonym"
                },
                {
                    "name": "RBE-II",
                    "type": "synonym"
                },
                {
                    "name": "RBE2",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1e",
                    "type": "recommended"
                },
                {
                    "name": "Cach6",
                    "type": "synonym"
                },
                {
                    "name": "Cacnl1a6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07652-1",
            "evidence": [
                {
                    "id": "0111181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02294-1",
            "uniprot_ac": "Q02294",
            "uniprot_id": "CAC1B_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 N-type calcium channel subunit alpha-1B",
                    "type": "recommended"
                },
                {
                    "name": "BIII",
                    "type": "synonym"
                },
                {
                    "name": "Brain calcium channel III",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cacna1b",
                    "type": "recommended"
                },
                {
                    "name": "Cach5",
                    "type": "synonym"
                },
                {
                    "name": "Cacnl1a5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02294-1",
            "evidence": [
                {
                    "id": "0111181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111181"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "0111181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111181"
                }
            ]
        },
        {
            "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": "0111181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15878-1",
            "uniprot_ac": "Q15878",
            "uniprot_id": "CAC1E_HUMAN",
            "refseq_ac": "NP_000712",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent R-type calcium channel subunit alpha-1E",
                    "type": "recommended"
                },
                {
                    "name": "BII",
                    "type": "synonym"
                },
                {
                    "name": "Brain calcium channel II",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide, isoform 6",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.3",
                    "type": "synonym"
                },
                {
                    "name": "brain calcium channel II",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, L type, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, R type, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent R-type calcium channel subunit alpha-1E isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent R-type calcium channel subunit alpha-1E",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent calcium channel alpha 1E subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel alpha subunit Cav2.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNA1E",
                    "type": "recommended"
                },
                {
                    "name": "BII",
                    "type": "synonym"
                },
                {
                    "name": "CACH6",
                    "type": "synonym"
                },
                {
                    "name": "CACNA1E",
                    "type": "synonym"
                },
                {
                    "name": "CACNL1A6",
                    "type": "synonym"
                },
                {
                    "name": "Cav2.3",
                    "type": "synonym"
                },
                {
                    "name": "DEE69",
                    "type": "synonym"
                },
                {
                    "name": "EIEE69",
                    "type": "synonym"
                },
                {
                    "name": "gm139",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15878-1",
            "evidence": [
                {
                    "id": "0111181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111181"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00975-1",
            "uniprot_ac": "Q00975",
            "uniprot_id": "CAC1B_HUMAN",
            "refseq_ac": "NP_000709",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent N-type calcium channel subunit alpha-1B",
                    "type": "recommended"
                },
                {
                    "name": "BIII",
                    "type": "synonym"
                },
                {
                    "name": "Brain calcium channel III",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "Cav2.2 voltage-gated Ca2+ channel",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.2",
                    "type": "synonym"
                },
                {
                    "name": "brain calcium channel III",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel alpha12.2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, L type, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, L type, alpha 1B subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel, voltage-dependent, N type, alpha 1B subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent N-type calcium channel subunit alpha-1B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel alpha subunit Cav2.2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated calcium channel subunit alpha Cav2.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNA1B",
                    "type": "recommended"
                },
                {
                    "name": "BIII",
                    "type": "synonym"
                },
                {
                    "name": "CACH5",
                    "type": "synonym"
                },
                {
                    "name": "CACNA1B",
                    "type": "synonym"
                },
                {
                    "name": "CACNL1A5",
                    "type": "synonym"
                },
                {
                    "name": "CACNN",
                    "type": "synonym"
                },
                {
                    "name": "Cav2.2",
                    "type": "synonym"
                },
                {
                    "name": "DYT23",
                    "type": "synonym"
                },
                {
                    "name": "NEDNEH",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00975-1",
            "evidence": [
                {
                    "id": "0111181",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111181"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111181"
}