{
    "disease_id": "DOID:0050989",
    "recommended_name": {
        "id": "DOID:0050989",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050989",
        "name": "episodic ataxia type 1",
        "description": "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1."
    },
    "synonyms": [
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "episodic ataxia type 1",
            "description": "A frequent form of hereditary episodic ataxia characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia."
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "EA1",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "Isaacs-Mertens syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "KCNA1 hereditary episodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "acetazolamide-responsive periodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "ataxia, episodic, with myokymia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "continuous muscle fiber activity",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "episodic ataxia with myokymia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "episodic ataxia, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "episodic ataxia/myokymia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "familial paroxysmal kinesigenic ataxia and continuous myokymia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "hereditary episodic ataxia caused by mutation in KCNA1",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "hereditary paroxysmal ataxia with neuromyotonia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "myokymia with episodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "myokymia with periodic ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0008047",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "name": "paroxysmal ataxia with neuromyotonia, hereditary",
            "description": ""
        },
        {
            "id": "MIM:160120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/160120",
            "name": "Episodic ataxia 1",
            "description": "Episodic ataxia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050989"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050989",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050989",
            "categories": []
        },
        {
            "id": "MONDO:0008047",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008047",
            "categories": []
        },
        {
            "id": "MIM:160120",
            "database": "MIM",
            "url": "https://www.omim.org/entry/160120",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "E7FEJ3",
            "uniprot_id": "E7FEJ3_DANRE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Potassium voltage-gated channel subfamily A member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcna1b",
                    "type": "recommended"
                },
                {
                    "name": "kcna1b",
                    "type": "synonym"
                }
            ],
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                }
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                    "type": "synonym"
                },
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                }
            ],
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                },
                {
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                }
            ],
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                    "id": "0050989",
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                }
            ]
        },
        {
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                    "common_name": "Zebrafish",
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                }
            ],
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                    "name": "Potassium voltage-gated channel subfamily A member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "kcna3a",
                    "type": "recommended"
                },
                {
                    "name": "kcna3a",
                    "type": "synonym"
                }
            ],
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                    "id": "0050989",
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                }
            ]
        },
        {
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Potassium voltage-gated channel subfamily A member 4",
                    "type": "recommended"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv1.4",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcna4",
                    "type": "recommended"
                },
                {
                    "name": "kcna4",
                    "type": "synonym"
                }
            ],
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                    "id": "0050989",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16388-1",
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily A member 1",
                    "type": "recommended"
                },
                {
                    "name": "MBK1",
                    "type": "synonym"
                },
                {
                    "name": "MKI",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv1.1",
                    "type": "synonym"
                },
                {
                    "name": "brain potassium channel protein-1",
                    "type": "synonym"
                },
                {
                    "name": "megencephaly",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv1.1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Kcna1",
                    "type": "recommended"
                },
                {
                    "name": "Kca1-1",
                    "type": "synonym"
                },
                {
                    "name": "Kcna1",
                    "type": "synonym"
                },
                {
                    "name": "Kv1.1",
                    "type": "synonym"
                },
                {
                    "name": "MBK1",
                    "type": "synonym"
                },
                {
                    "name": "Mk-1",
                    "type": "synonym"
                },
                {
                    "name": "Shak",
                    "type": "synonym"
                },
                {
                    "name": "mceph",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63141-1",
            "uniprot_ac": "P63141",
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            "refseq_ac": "NP_032443",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily A member 2",
                    "type": "recommended"
                },
                {
                    "name": "MK2",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv1.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv1.2",
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                }
            ],
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                {
                    "name": "Kcna2",
                    "type": "recommended"
                },
                {
                    "name": "Akr6a4",
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                },
                {
                    "name": "Gm10672",
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                {
                    "name": "Kcna2",
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                    "id": "0050989",
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            "uniprot_canonical_ac": "Q61762-1",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Potassium voltage-gated channel subfamily A member 5",
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                    "name": "Voltage-gated potassium channel subunit Kv1.5",
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                    "name": "voltage-gated potassium channel subunit Kv1.5",
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            ],
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                    "id": "0050989",
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                }
            ],
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                    "id": "0050989",
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                }
            ],
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                    "id": "0050989",
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            ],
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                    "name": "Voltage-gated potassium channel subunit Kv1.8",
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                    "name": "cyclic GMP gated potassium channel",
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                }
            ],
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                    "name": "Potassium voltage-gated channel subfamily A member 4",
                    "type": "recommended"
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                    "name": "Voltage-gated potassium channel subunit Kv1.4",
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                },
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                    "name": "potassium voltage-gated channel subfamily A member 4",
                    "type": "synonym"
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                {
                    "name": "voltage-gated potassium channel subunit Kv1.4",
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                }
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                    "name": "Kcna4",
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                },
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                },
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                    "name": "Kv1.4",
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                    "id": "0050989",
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                }
            ]
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            "uniprot_canonical_ac": "P16390-1",
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                }
            ],
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                {
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                },
                {
                    "name": "MK3",
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                {
                    "name": "Voltage-gated potassium channel protein Kv1.3 (RGK5) (RCK3) (KV3)",
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                    "name": "Voltage-gated potassium channel subunit Kv1.3",
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                {
                    "name": "Kcna3",
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                {
                    "name": "Mk-3",
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                    "id": "0050989",
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            ],
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                {
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                    "id": "160120",
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                    "id": "0050989",
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                    "type": "synonym"
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                    "name": "potassium voltage-gated channel subfamily A member 1",
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                    "id": "0050989",
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                    "name": "potassium voltage-gated channel subfamily A member 10",
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                    "id": "0050989",
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                    "id": "0050989",
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                }
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                    "id": "0050989",
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                    "name": "potassium voltage-gated channel subfamily A member 4",
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                    "id": "0050989",
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                    "name": "Shw",
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                    "name": "Sh",
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                    "id": "0050989",
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                {
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                {
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                {
                    "name": "KCNA10",
                    "type": "recommended"
                },
                {
                    "name": "KCNA10",
                    "type": "synonym"
                },
                {
                    "name": "Kcn1",
                    "type": "synonym"
                },
                {
                    "name": "Kv1.8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16322-1",
            "evidence": [
                {
                    "id": "0050989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16389-1",
            "uniprot_ac": "P16389",
            "uniprot_id": "KCNA2_HUMAN",
            "refseq_ac": "NP_001191198",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily A member 2",
                    "type": "recommended"
                },
                {
                    "name": "NGK1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated K(+) channel HuKIV",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel HBK5",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv1.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated shaker related subfamily A, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, shaker-related subfamily, member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated K(+) channel HuKIV",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel HBK5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel protein Kv1.2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv1.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNA2",
                    "type": "recommended"
                },
                {
                    "name": "DEE32",
                    "type": "synonym"
                },
                {
                    "name": "EIEE32",
                    "type": "synonym"
                },
                {
                    "name": "HBK5",
                    "type": "synonym"
                },
                {
                    "name": "HK4",
                    "type": "synonym"
                },
                {
                    "name": "HUKIV",
                    "type": "synonym"
                },
                {
                    "name": "KCNA2",
                    "type": "synonym"
                },
                {
                    "name": "KV1.2",
                    "type": "synonym"
                },
                {
                    "name": "MK2",
                    "type": "synonym"
                },
                {
                    "name": "NGK1",
                    "type": "synonym"
                },
                {
                    "name": "RBK2",
                    "type": "synonym"
                }
            ],
            "record_id": "P16389-1",
            "evidence": [
                {
                    "id": "0050989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22001-1",
            "uniprot_ac": "P22001",
            "uniprot_id": "KCNA3_HUMAN",
            "refseq_ac": "NP_002223",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily A member 3",
                    "type": "recommended"
                },
                {
                    "name": "HGK5",
                    "type": "synonym"
                },
                {
                    "name": "HLK3",
                    "type": "synonym"
                },
                {
                    "name": "HPCN3",
                    "type": "synonym"
                },
                {
                    "name": "RP11-284N8.3",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated K(+) channel HuKIII",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv1.3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated shaker related subfamily A, member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 3",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, shaker-related subfamily, member 3",
                    "type": "synonym"
                },
                {
                    "name": "type n potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated K(+) channel HuKIII",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel protein Kv1.3",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv1.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNA3",
                    "type": "recommended"
                },
                {
                    "name": "HGK5",
                    "type": "synonym"
                },
                {
                    "name": "HLK3",
                    "type": "synonym"
                },
                {
                    "name": "HPCN3",
                    "type": "synonym"
                },
                {
                    "name": "HUKIII",
                    "type": "synonym"
                },
                {
                    "name": "KCNA3",
                    "type": "synonym"
                },
                {
                    "name": "KV1.3",
                    "type": "synonym"
                },
                {
                    "name": "MK3",
                    "type": "synonym"
                },
                {
                    "name": "PCN3",
                    "type": "synonym"
                }
            ],
            "record_id": "P22001-1",
            "evidence": [
                {
                    "id": "0050989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050989"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050989"
}
