{
    "disease_id": "DOID:0050951",
    "recommended_name": {
        "id": "DOID:0050951",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050951",
        "name": "hereditary ataxia",
        "description": "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0050753",
            "label": "cerebellar ataxia",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0050950",
                    "label": "autosomal recessive cerebellar ataxia",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0050754",
                            "label": "early-onset ataxia with oculomotor apraxia and hypoalbuminemia",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050755",
                            "label": "spinocerebellar ataxia with axonal neuropathy 2",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050946",
                            "label": "Charlevoix-Saguenay spastic ataxia",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050999",
                            "label": "autosomal recessive spinocerebellar ataxia 10",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0060557",
                            "label": "ataxia-oculomotor apraxia 3",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0060694",
                            "label": "Cayman type cerebellar ataxia",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070409",
                            "label": "autosomal recessive spinocerebellar ataxia 28",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070410",
                            "label": "autosomal recessive spinocerebellar ataxia 29",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070411",
                            "label": "autosomal recessive spinocerebellar ataxia 30",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070412",
                            "label": "autosomal recessive spinocerebellar ataxia 31",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070413",
                            "label": "autosomal recessive spinocerebellar ataxia 32",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070465",
                            "label": "autosomal recessive spinocerebellar ataxia with axonal neuropathy 3",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070558",
                            "label": "autosomal recessive spinocerebellar ataxia 34",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0070721",
                            "label": "Valence-Farazi cerebellar ataxia syndrome",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080029",
                            "label": "autosomal recessive spinocerebellar ataxia 16",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080042",
                            "label": "autosomal recessive spinocerebellar ataxia 18",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080057",
                            "label": "autosomal recessive spinocerebellar ataxia 15",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080058",
                            "label": "autosomal recessive spinocerebellar ataxia 14",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080059",
                            "label": "autosomal recessive spinocerebellar ataxia 7",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080060",
                            "label": "autosomal recessive spinocerebellar ataxia 12",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080061",
                            "label": "autosomal recessive spinocerebellar ataxia 2",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080062",
                            "label": "autosomal recessive spinocerebellar ataxia 13",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080063",
                            "label": "autosomal recessive spinocerebellar ataxia 11",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080064",
                            "label": "autosomal recessive spinocerebellar ataxia 17",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080065",
                            "label": "autosomal recessive spinocerebellar ataxia 19",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080066",
                            "label": "autosomal recessive spinocerebellar ataxia 20",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080259",
                            "label": "autosomal recessive spinocerebellar ataxia 25",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080260",
                            "label": "autosomal recessive spinocerebellar ataxia 26",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081383",
                            "label": "ataxia-oculomotor apraxia 4",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081384",
                            "label": "ataxia-telangiectasia-like disorder 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0081385",
                            "label": "ataxia-telangiectasia-like disorder 2",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0090115",
                            "label": "spinocerebellar ataxia with axonal neuropathy 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111155",
                            "label": "autosomal recessive spinocerebellar ataxia 21",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111611",
                            "label": "autosomal recessive spinocerebellar ataxia 4",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111613",
                            "label": "autosomal recessive spinocerebellar ataxia 23",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111614",
                            "label": "autosomal recessive spinocerebellar ataxia 22",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111615",
                            "label": "autosomal recessive spinocerebellar ataxia 24",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111616",
                            "label": "autosomal recessive spinocerebellar ataxia 27",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111618",
                            "label": "autosomal recessive spinocerebellar ataxia 8",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:12704",
                            "label": "ataxia telangiectasia",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:12705",
                            "label": "Friedreich ataxia",
                            "link_status": true,
                            "children": [
                                {
                                    "id": "DOID:0111218",
                                    "label": "Friedreich ataxia 1",
                                    "link_status": true,
                                    "children": []
                                }
                            ]
                        }
                    ]
                },
                {
                    "id": "DOID:1441",
                    "label": "autosomal dominant cerebellar ataxia",
                    "link_status": true,
                    "children": [
                        {
                            "id": "DOID:0050882",
                            "label": "spinocerebellar ataxia 5",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050954",
                            "label": "spinocerebellar ataxia 1",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050955",
                            "label": "spinocerebellar ataxia 2",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050956",
                            "label": "spinocerebellar ataxia 6",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050957",
                            "label": "spinocerebellar ataxia 4",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050958",
                            "label": "spinocerebellar ataxia 7",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050959",
                            "label": "spinocerebellar ataxia 8",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050960",
                            "label": "spinocerebellar ataxia 10",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050961",
                            "label": "spinocerebellar ataxia 11",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050962",
                            "label": "spinocerebellar ataxia 12",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050963",
                            "label": "spinocerebellar ataxia 13",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050964",
                            "label": "spinocerebellar ataxia 14",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050965",
                            "label": "spinocerebellar ataxia 15",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050967",
                            "label": "spinocerebellar ataxia 17",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050968",
                            "label": "autosomal dominant cerebellar ataxia, deafness and narcolepsy",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050970",
                            "label": "spinocerebellar ataxia 19/22",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050971",
                            "label": "spinocerebellar ataxia 20",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050972",
                            "label": "spinocerebellar ataxia 21",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050973",
                            "label": "spinocerebellar ataxia 23",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050974",
                            "label": "spinocerebellar ataxia 25",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050975",
                            "label": "spinocerebellar ataxia 26",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050976",
                            "label": "spinocerebellar ataxia 27A",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050977",
                            "label": "spinocerebellar ataxia 28",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050978",
                            "label": "spinocerebellar ataxia 29",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050980",
                            "label": "spinocerebellar ataxia 31",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050981",
                            "label": "spinocerebellar ataxia 34",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050982",
                            "label": "spinocerebellar ataxia 35",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050983",
                            "label": "spinocerebellar ataxia 36",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050984",
                            "label": "spinocerebellar ataxia 37",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050985",
                            "label": "spinocerebellar ataxia 38",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050986",
                            "label": "spinocerebellar ataxia 40",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050987",
                            "label": "hypomyelinating leukoencephalopathy",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0050998",
                            "label": "nonprogressive cerebellar ataxia with mental retardation",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0060162",
                            "label": "dentatorubral-pallidoluysian atrophy",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0061137",
                            "label": "spinocerebellar ataxia 27B",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080286",
                            "label": "spinocerebellar ataxia 44",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080287",
                            "label": "spinocerebellar ataxia 45",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0080288",
                            "label": "spinocerebellar ataxia 46",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111742",
                            "label": "cerebellar ataxia type 42",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111743",
                            "label": "cerebellar ataxia type 47",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111744",
                            "label": "cerebellar ataxia type 41",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111745",
                            "label": "cerebellar ataxia type 43",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:0111746",
                            "label": "cerebellar ataxia type 48",
                            "link_status": true,
                            "children": []
                        },
                        {
                            "id": "DOID:1440",
                            "label": "Machado-Joseph disease",
                            "link_status": true,
                            "children": []
                        }
                    ]
                }
            ]
        },
        {
            "id": "DOID:0050952",
            "label": "spastic ataxia",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0050772",
                    "label": "spastic ataxia 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050941",
                    "label": "spastic ataxia 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050942",
                    "label": "spastic ataxia 3",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050943",
                    "label": "spastic ataxia 4",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050944",
                    "label": "spastic ataxia 5",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0080252",
                    "label": "spastic ataxia 8",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0050953",
            "label": "X-linked hereditary ataxia",
            "link_status": false,
            "children": [
                {
                    "id": "DOID:0050879",
                    "label": "fragile X-associated tremor/ataxia syndrome",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0111828",
                    "label": "X-linked cerebellar ataxia",
                    "link_status": false,
                    "children": [
                        {
                            "id": "DOID:0111829",
                            "label": "X-linked spinocerebellar ataxia 1",
                            "link_status": true,
                            "children": []
                        }
                    ]
                }
            ]
        },
        {
            "id": "DOID:0111170",
            "label": "autosomal dominant sensory ataxia 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:963",
            "label": "episodic ataxia",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0050989",
                    "label": "episodic ataxia type 1",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050990",
                    "label": "episodic ataxia type 2",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050993",
                    "label": "episodic ataxia type 5",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050994",
                    "label": "episodic ataxia type 6",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050996",
                    "label": "episodic ataxia type 8",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0060965",
                    "label": "episodic ataxia type 9",
                    "link_status": true,
                    "children": []
                }
            ]
        }
    ],
    "id_list": [
        "DOID:0080063",
        "DOID:0080060",
        "DOID:0050973",
        "DOID:0050980",
        "DOID:0060162",
        "DOID:0050989",
        "DOID:0050998",
        "DOID:0111615",
        "DOID:0080061",
        "DOID:0080286",
        "DOID:0080066",
        "DOID:0050950",
        "DOID:0050968",
        "DOID:0050754",
        "DOID:0050753",
        "DOID:0050981",
        "DOID:0060694",
        "DOID:0050999",
        "DOID:0111828",
        "DOID:0050993",
        "DOID:0050983",
        "DOID:0050963",
        "DOID:0050952",
        "DOID:0080065",
        "DOID:0080064",
        "DOID:0090115",
        "DOID:0111746",
        "DOID:0080057",
        "DOID:0050987",
        "DOID:0080029",
        "DOID:0050996",
        "DOID:0081384",
        "DOID:0050755",
        "DOID:0080059",
        "DOID:0111155",
        "DOID:0050990",
        "DOID:0080259",
        "DOID:0050944",
        "DOID:0050964",
        "DOID:0070409",
        "DOID:0050955",
        "DOID:0111170",
        "DOID:0111218",
        "DOID:0081385",
        "DOID:0050959",
        "DOID:0050961",
        "DOID:0080287",
        "DOID:0111613",
        "DOID:0080058",
        "DOID:0060965",
        "DOID:0111829",
        "DOID:0111742",
        "DOID:0080042",
        "DOID:0111611",
        "DOID:0050879",
        "DOID:0111614",
        "DOID:1440",
        "DOID:0050942",
        "DOID:0050956",
        "DOID:0050972",
        "DOID:0050975",
        "DOID:0070558",
        "DOID:0050974",
        "DOID:0050976",
        "DOID:0050941",
        "DOID:0050951",
        "DOID:12705",
        "DOID:0050967",
        "DOID:0111745",
        "DOID:0070721",
        "DOID:0050984",
        "DOID:0050982",
        "DOID:0050994",
        "DOID:0081383",
        "DOID:0111616",
        "DOID:0050958",
        "DOID:0050953",
        "DOID:0050970",
        "DOID:0080288",
        "DOID:0050971",
        "DOID:0050965",
        "DOID:0050978",
        "DOID:0070410",
        "DOID:0080260",
        "DOID:0111744",
        "DOID:0050772",
        "DOID:0050960",
        "DOID:0070465",
        "DOID:12704",
        "DOID:0050986",
        "DOID:0070413",
        "DOID:0050946",
        "DOID:0070411",
        "DOID:0061137",
        "DOID:0111618",
        "DOID:0050954",
        "DOID:0111743",
        "DOID:0050943",
        "DOID:0060557",
        "DOID:963",
        "DOID:0070412",
        "DOID:0080252",
        "DOID:0050962",
        "DOID:0050882",
        "DOID:1441",
        "DOID:0050957",
        "DOID:0080062",
        "DOID:0050977",
        "DOID:0050985"
    ],
    "unlinked_id_list": [
        "DOID:0050953",
        "DOID:0111828"
    ],
    "crossref": [
        {
            "id": "DOID:0050951",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050951",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PXN1-1",
            "uniprot_ac": "A0A8M9PXN1",
            "uniprot_id": "A0A8M9PXN1_DANRE",
            "refseq_ac": "XP_021331853",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent N-type calcium channel subunit alpha",
                    "type": "recommended"
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                {
                    "name": "Mus musculus",
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            ],
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                    "name": "Pitrilysin metalloproteinase 1",
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                {
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                    "name": "2310012C15Rik",
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                {
                    "name": "Kiaa1104",
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                    "name": "MP1",
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                    "name": "Ntup1",
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                    "name": "Pitrm1",
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                    "name": "PreP",
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                {
                    "name": "mKIAA1104",
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                    "id": "0050951",
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            ],
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                {
                    "name": "Protease M",
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                {
                    "name": "pitrilysin family metalloprotease",
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            ],
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                    "name": "CYM1",
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            ],
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                {
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                    "name": "G8501",
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                    "id": "0050951",
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                {
                    "name": "Autophagy protein 5",
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                {
                    "name": "Atg5p",
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                    "name": "ATG5",
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                {
                    "name": "APG5",
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                {
                    "name": "ATG5",
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                {
                    "name": "P2601",
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            ],
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                {
                    "id": "0050951",
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                }
            ]
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            ],
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                {
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                {
                    "name": "COPI-interacting protein CEX1",
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                }
            ],
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                {
                    "name": "CEX1",
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                {
                    "name": "CEX1",
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                {
                    "name": "O3240",
                    "type": "synonym"
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                {
                    "name": "YOR3240w",
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                }
            ],
            "record_id": "Q12453-1",
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                    "id": "0050951",
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                }
            ]
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                {
                    "name": "Brain calcium channel III",
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                {
                    "name": "Calcium channel, L type, alpha-1 polypeptide isoform 5",
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                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.2",
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                    "name": "Cacna1b",
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                {
                    "name": "Cach5",
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                {
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                {
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                {
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                {
                    "name": "Voltage-gated calcium channel subunit alpha Cav2.3",
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                {
                    "name": "autophagy protein 5",
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                    "name": "Atg5",
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                    "id": "0050951",
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                {
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                {
                    "name": "Rat brain class A",
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                    "id": "0050951",
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                }
            ]
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                {
                    "name": "pitrilysin metallepetidase 1",
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                {
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                {
                    "name": "presequence protease, mitochondrial isoform 2",
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                {
                    "name": "presequence protease, mitochondrial",
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                    "name": "Pitrm1",
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                {
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            ],
            "record_id": "A0A0G2K6D5-1",
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                    "id": "0050951",
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                {
                    "name": "E3 ubiquitin-protein ligase RNF170 isoform X1",
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                },
                {
                    "name": "RING finger protein 170",
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                {
                    "name": "RING-type E3 ubiquitin transferase RNF170",
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                }
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                    "name": "Rnf170",
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                {
                    "name": "Rnf170",
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                    "id": "0050951",
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                    "name": "Dmel\\CG3107",
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                {
                    "name": "Protein cacophony",
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                {
                    "name": "Protein nightblind A",
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                    "name": "Protein no-on-transient B",
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                    "name": "cac-PO",
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                    "name": "cacophany",
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                    "name": "cacophony, isoform O",
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                    "name": "cactus",
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                    "name": "calcium channel alpha1 subunit, type A",
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                    "name": "lamina-degeneration",
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                    "name": "lethal(1)11Aa",
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                {
                    "name": "night blind A",
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                    "name": "nightblind A",
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                {
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                    "name": "Ca-alpha1A",
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                    "name": "Cac1",
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                    "name": "Cac",
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                    "name": "Dmca1A",
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                {
                    "name": "Dmcalpha1A",
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                    "name": "Dmel\\CG43368",
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                    "name": "EE171",
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                    "name": "H18",
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                    "name": "H47",
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                {
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            "refseq_ac": "NP_001041683",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-terminal kinase-like protein",
                    "type": "recommended"
                },
                {
                    "name": "Coated vesicle-associated kinase of 90 kDa",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal kinase-like protein isoform B",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SCY1-like, kinase-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Telomerase regulation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "Telomerase transcriptional element-interacting factor",
                    "type": "synonym"
                },
                {
                    "name": "Teratoma-associated tyrosine kinase",
                    "type": "synonym"
                },
                {
                    "name": "coated vesicle-associated kinase of 90 kDa",
                    "type": "synonym"
                },
                {
                    "name": "likely ortholog of mouse N-terminal kinase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "telomerase regulation-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "telomerase transcriptional elements-interacting factor",
                    "type": "synonym"
                },
                {
                    "name": "teratoma-associated tyrosine kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCYL1",
                    "type": "recommended"
                },
                {
                    "name": "CVAK90",
                    "type": "synonym"
                },
                {
                    "name": "GKLP",
                    "type": "synonym"
                },
                {
                    "name": "HT019",
                    "type": "synonym"
                },
                {
                    "name": "NKTL",
                    "type": "synonym"
                },
                {
                    "name": "NTKL",
                    "type": "synonym"
                },
                {
                    "name": "P105",
                    "type": "synonym"
                },
                {
                    "name": "SCAR21",
                    "type": "synonym"
                },
                {
                    "name": "SCYL1",
                    "type": "synonym"
                },
                {
                    "name": "TAPK",
                    "type": "synonym"
                },
                {
                    "name": "TEIF",
                    "type": "synonym"
                },
                {
                    "name": "TRAP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96KG9-1",
            "evidence": [
                {
                    "id": "0050951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050951"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96K19-1",
            "uniprot_ac": "Q96K19",
            "uniprot_id": "RN170_HUMAN",
            "refseq_ac": "NP_001153695",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF170",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF170 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF170",
                    "type": "synonym"
                },
                {
                    "name": "Putative LAG1-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 170",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RNF170",
                    "type": "synonym"
                },
                {
                    "name": "putative LAG1-interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNF170",
                    "type": "recommended"
                },
                {
                    "name": "ADSA",
                    "type": "synonym"
                },
                {
                    "name": "RNF170",
                    "type": "synonym"
                },
                {
                    "name": "SNAX1",
                    "type": "synonym"
                },
                {
                    "name": "SPG85",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96K19-1",
            "evidence": [
                {
                    "id": "0050951",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050951"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050951"
}
