{
    "disease_id": "DOID:0050793",
    "recommended_name": {
        "id": "DOID:0050793",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050793",
        "name": "short QT syndrome",
        "description": "A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart."
    },
    "synonyms": [
        {
            "id": "MONDO:0012312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012312",
            "name": "short QT syndrome type 1",
            "description": "Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene."
        },
        {
            "id": "MONDO:0012312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012312",
            "name": "KCNH2 short QT syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012312",
            "name": "SQTS",
            "description": ""
        },
        {
            "id": "MONDO:0012312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012312",
            "name": "short QT syndrome caused by mutation in KCNH2",
            "description": ""
        },
        {
            "id": "MONDO:0012312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012312",
            "name": "short QT syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012312",
            "name": "SQT1",
            "description": ""
        },
        {
            "id": "MONDO:0012312",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012312",
            "name": "short QT syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0012313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012313",
            "name": "short QT syndrome type 2",
            "description": "Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene."
        },
        {
            "id": "MONDO:0012313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012313",
            "name": "KCNQ1 short QT syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012313",
            "name": "short QT syndrome caused by mutation in KCNQ1",
            "description": ""
        },
        {
            "id": "MONDO:0012313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012313",
            "name": "short QT syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012313",
            "name": "SQT2",
            "description": ""
        },
        {
            "id": "MONDO:0012313",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012313",
            "name": "short QT syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012314",
            "name": "short QT syndrome type 3",
            "description": "Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene."
        },
        {
            "id": "MONDO:0012314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012314",
            "name": "KCNJ2 short QT syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012314",
            "name": "short QT syndrome caused by mutation in KCNJ2",
            "description": ""
        },
        {
            "id": "MONDO:0012314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012314",
            "name": "short QT syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0012314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012314",
            "name": "SQT3",
            "description": ""
        },
        {
            "id": "MONDO:0012314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012314",
            "name": "short QT syndrome 3",
            "description": ""
        },
        {
            "id": "MIM:609620",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609620",
            "name": "Short QT syndrome 1",
            "description": "Short QT syndrome 1"
        },
        {
            "id": "MIM:609621",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609621",
            "name": "Short QT syndrome 2",
            "description": "Short QT syndrome 2"
        },
        {
            "id": "MIM:609622",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609622",
            "name": "Short QT syndrome 3",
            "description": "Short QT syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050793"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050793",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050793",
            "categories": []
        },
        {
            "id": "MONDO:0012312",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012312",
            "categories": []
        },
        {
            "id": "MONDO:0012313",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012313",
            "categories": []
        },
        {
            "id": "MONDO:0012314",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012314",
            "categories": []
        },
        {
            "id": "MIM:609620",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609620",
            "categories": []
        },
        {
            "id": "MIM:609621",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609621",
            "categories": []
        },
        {
            "id": "MIM:609622",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609622",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A096X8J7-1",
            "uniprot_ac": "A0A096X8J7",
            "uniprot_id": "B3A3_DANRE",
            "refseq_ac": "NP_001289693",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anion exchange protein 3",
                    "type": "recommended"
                },
                {
                    "name": "AE 3",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4 member 3",
                    "type": "synonym"
                },
                {
                    "name": "anion exchange protein 3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "anion exchange protein 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 (anion exchanger), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 anion exchanger member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc4a3",
                    "type": "recommended"
                },
                {
                    "name": "slc4a3",
                    "type": "recommended"
                },
                {
                    "name": "AE 3",
                    "type": "synonym"
                },
                {
                    "name": "Ae3",
                    "type": "synonym"
                },
                {
                    "name": "slc4a3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096X8J7-1",
            "evidence": [
                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58H0R3-1",
            "uniprot_ac": "A0AC58H0R3",
            "uniprot_id": "A0AC58H0R3_DANRE",
            "refseq_ac": "XP_073775577",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated inwardly rectifying potassium channel KCNH2",
                    "type": "recommended"
                },
                {
                    "name": "Ether-a-go-go-related gene potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily H member 2",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv11.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily H member 2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnh2a",
                    "type": "recommended"
                },
                {
                    "name": "kcnh2a",
                    "type": "synonym"
                },
                {
                    "name": "kcnh2l",
                    "type": "synonym"
                },
                {
                    "name": "kcnh2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-99c4.6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58H0R3-1",
            "evidence": [
                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58FZ01-1",
            "uniprot_ac": "A0AC58FZ01",
            "uniprot_id": "A0AC58FZ01_DANRE",
            "refseq_ac": "XP_073762763",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 1",
                    "type": "recommended"
                },
                {
                    "name": "IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1",
                    "type": "synonym"
                },
                {
                    "name": "KQT-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 1.1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnq1.1",
                    "type": "recommended"
                },
                {
                    "name": "kcnq1.1",
                    "type": "synonym"
                },
                {
                    "name": "kcnq1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158384",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58FZ01-1",
            "evidence": [
                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35219-1",
            "uniprot_ac": "O35219",
            "uniprot_id": "KCNH2_MOUSE",
            "refseq_ac": "NP_001281091",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated inwardly rectifying potassium channel KCNH2",
                    "type": "recommended"
                },
                {
                    "name": "ERG-1",
                    "type": "synonym"
                },
                {
                    "name": "Eag-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ether-a-go-go-related gene potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Ether-a-go-go-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "MERG",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily H member 2",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv11.1",
                    "type": "synonym"
                },
                {
                    "name": "eag-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ether-a-go-go-related gene potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "ether-a-go-go-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily H member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated inwardly rectifying potassium channel KCNH2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated inwardly rectifying potassium channel KCNH2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv11.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnh2",
                    "type": "recommended"
                },
                {
                    "name": "ERG1",
                    "type": "synonym"
                },
                {
                    "name": "Erg",
                    "type": "synonym"
                },
                {
                    "name": "Kcnh2",
                    "type": "synonym"
                },
                {
                    "name": "LQT",
                    "type": "synonym"
                },
                {
                    "name": "Lqt2",
                    "type": "synonym"
                },
                {
                    "name": "M-erg",
                    "type": "synonym"
                },
                {
                    "name": "Merg1",
                    "type": "synonym"
                },
                {
                    "name": "merg1a",
                    "type": "synonym"
                },
                {
                    "name": "merg1b",
                    "type": "synonym"
                }
            ],
            "record_id": "O35219-1",
            "evidence": [
                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35561-1",
            "uniprot_ac": "P35561",
            "uniprot_id": "KCNJ2_MOUSE",
            "refseq_ac": "NP_032451",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 2",
                    "type": "recommended"
                },
                {
                    "name": "IRK-1",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir2.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 2",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir2.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier potassium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj2",
                    "type": "recommended"
                },
                {
                    "name": "IRK1",
                    "type": "synonym"
                },
                {
                    "name": "Irk1",
                    "type": "synonym"
                },
                {
                    "name": "Kcnf1",
                    "type": "synonym"
                },
                {
                    "name": "Kcnj2",
                    "type": "synonym"
                },
                {
                    "name": "Kir2.1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35561-1",
            "evidence": [
                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97414-1",
            "uniprot_ac": "P97414",
            "uniprot_id": "KCNQ1_MOUSE",
            "refseq_ac": "NP_032460",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 1",
                    "type": "recommended"
                },
                {
                    "name": "IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1",
                    "type": "synonym"
                },
                {
                    "name": "KQT-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnq1",
                    "type": "recommended"
                },
                {
                    "name": "KVLQT1",
                    "type": "synonym"
                },
                {
                    "name": "Kcna9",
                    "type": "synonym"
                },
                {
                    "name": "Kcnq1",
                    "type": "synonym"
                },
                {
                    "name": "Kvlqt1",
                    "type": "synonym"
                }
            ],
            "record_id": "P97414-1",
            "evidence": [
                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16283-1",
            "uniprot_ac": "P16283",
            "uniprot_id": "B3A3_MOUSE",
            "refseq_ac": "NP_033234",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Anion exchange protein 3",
                    "type": "recommended"
                },
                {
                    "name": "AE 3",
                    "type": "synonym"
                },
                {
                    "name": "Anion exchanger 3",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal band 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4 member 3",
                    "type": "synonym"
                },
                {
                    "name": "anion exchange protein 3",
                    "type": "synonym"
                },
                {
                    "name": "anion exchanger 3",
                    "type": "synonym"
                },
                {
                    "name": "neuronal band 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 4 member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc4a3",
                    "type": "recommended"
                },
                {
                    "name": "A930038D23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ae3",
                    "type": "synonym"
                },
                {
                    "name": "Slc4a3",
                    "type": "synonym"
                }
            ],
            "record_id": "P16283-1",
            "evidence": [
                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12809-1",
            "uniprot_ac": "Q12809",
            "uniprot_id": "KCNH2_HUMAN",
            "refseq_ac": "NP_000229",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated inwardly rectifying potassium channel KCNH2",
                    "type": "recommended"
                },
                {
                    "name": "ERG-1",
                    "type": "synonym"
                },
                {
                    "name": "Eag homolog",
                    "type": "synonym"
                },
                {
                    "name": "Eag-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ether-a-go-go-related gene potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Ether-a-go-go-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "H-ERG",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily H member 2",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv11.1",
                    "type": "synonym"
                },
                {
                    "name": "eag homolog",
                    "type": "synonym"
                },
                {
                    "name": "eag-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ether-a-go-go-related gene potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "ether-a-go-go-related potassium channel protein",
                    "type": "synonym"
                },
                {
                    "name": "ether-a-go-go-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hERG-1",
                    "type": "synonym"
                },
                {
                    "name": "hERG1",
                    "type": "synonym"
                },
                {
                    "name": "human ether-a-go-go-related",
                    "type": "synonym"
                },
                {
                    "name": "long QT syndrome type 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated eag related subfamily H, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, subfamily H (eag-related), member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated inwardly rectifying potassium channel KCNH2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated inwardly rectifying potassium channel KCNH2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv11.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNH2",
                    "type": "recommended"
                },
                {
                    "name": "ERG-1",
                    "type": "synonym"
                },
                {
                    "name": "ERG1",
                    "type": "synonym"
                },
                {
                    "name": "ERG",
                    "type": "synonym"
                },
                {
                    "name": "H-ERG",
                    "type": "synonym"
                },
                {
                    "name": "HERG1",
                    "type": "synonym"
                },
                {
                    "name": "HERG",
                    "type": "synonym"
                },
                {
                    "name": "KCNH2",
                    "type": "synonym"
                },
                {
                    "name": "Kv11.1",
                    "type": "synonym"
                },
                {
                    "name": "LQT2",
                    "type": "synonym"
                },
                {
                    "name": "SQT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12809-1",
            "evidence": [
                {
                    "id": "609620",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609620"
                },
                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51787-1",
            "uniprot_ac": "P51787",
            "uniprot_id": "KCNQ1_HUMAN",
            "refseq_ac": "NP_000209",
            "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 KQT member 1",
                    "type": "recommended"
                },
                {
                    "name": "IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1",
                    "type": "synonym"
                },
                {
                    "name": "KQT-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                },
                {
                    "name": "kidney and cardiac voltage dependend K+ channel",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated KQT-like subfamily Q, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, KQT-like subfamily, member 1",
                    "type": "synonym"
                },
                {
                    "name": "slow delayed rectifier channel subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNQ1",
                    "type": "recommended"
                },
                {
                    "name": "ATFB1",
                    "type": "synonym"
                },
                {
                    "name": "ATFB3",
                    "type": "synonym"
                },
                {
                    "name": "JLNS1",
                    "type": "synonym"
                },
                {
                    "name": "KCNA8",
                    "type": "synonym"
                },
                {
                    "name": "KCNA9",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ1",
                    "type": "synonym"
                },
                {
                    "name": "KVLQT1",
                    "type": "synonym"
                },
                {
                    "name": "Kv1.9",
                    "type": "synonym"
                },
                {
                    "name": "Kv7.1",
                    "type": "synonym"
                },
                {
                    "name": "LQT1",
                    "type": "synonym"
                },
                {
                    "name": "LQT",
                    "type": "synonym"
                },
                {
                    "name": "RWS",
                    "type": "synonym"
                },
                {
                    "name": "SQT2",
                    "type": "synonym"
                },
                {
                    "name": "WRS",
                    "type": "synonym"
                }
            ],
            "record_id": "P51787-1",
            "evidence": [
                {
                    "id": "609621",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609621"
                },
                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63252-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inward rectifier potassium channel 2",
                    "type": "recommended"
                },
                {
                    "name": "Cardiac inward rectifier potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "IRK-1",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir2.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 2",
                    "type": "synonym"
                },
                {
                    "name": "cardiac inward rectifier potassium channel",
                    "type": "synonym"
                },
                {
                    "name": "hIRK1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K+ channel KIR2.1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier potassium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "KCNJ2",
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                },
                {
                    "name": "ATFB9",
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                },
                {
                    "name": "HHBIRK1",
                    "type": "synonym"
                },
                {
                    "name": "HHIRK1",
                    "type": "synonym"
                },
                {
                    "name": "IRK1",
                    "type": "synonym"
                },
                {
                    "name": "KCNJ2",
                    "type": "synonym"
                },
                {
                    "name": "KIR2.1",
                    "type": "synonym"
                },
                {
                    "name": "LQT7",
                    "type": "synonym"
                },
                {
                    "name": "SQT3",
                    "type": "synonym"
                }
            ],
            "record_id": "P63252-1",
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                {
                    "id": "609622",
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                    "url": "https://www.omim.org/entry/609622"
                },
                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53838-1",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Boron transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Bor1p",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "BOR1",
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                {
                    "name": "BOR1",
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                },
                {
                    "name": "N0626",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64273-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Inward rectifier potassium channel 2",
                    "type": "recommended"
                },
                {
                    "name": "IRK-1",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir2.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 2",
                    "type": "synonym"
                },
                {
                    "name": "RBL-IRK1",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir2.1",
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                },
                {
                    "name": "inward rectifier potassium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Kcnj2",
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                {
                    "name": "Irk1",
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                },
                {
                    "name": "Kcnj2",
                    "type": "synonym"
                },
                {
                    "name": "Kir2.1",
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                }
            ],
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                {
                    "id": "0050793",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08962-1",
            "uniprot_ac": "O08962",
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                {
                    "name": "Rattus norvegicus",
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Voltage-gated inwardly rectifying potassium channel KCNH2",
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                },
                {
                    "name": "ERG-1",
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                },
                {
                    "name": "Eag-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ether-a-go-go-related gene potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "Ether-a-go-go-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily H member 2",
                    "type": "synonym"
                },
                {
                    "name": "RERG",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv11.1",
                    "type": "synonym"
                },
                {
                    "name": "eag-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ether-a-go-go-related gene potassium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "ether-a-go-go-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated eag related subfamily H, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, subfamily H (eag-related), member 2",
                    "type": "synonym"
                },
                {
                    "name": "r-ERG",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated inwardly rectifying potassium channel KCNH2",
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                },
                {
                    "name": "voltage-gated potassium channel subunit Kv11.1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Kcnh2",
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                },
                {
                    "name": "ERG1",
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                },
                {
                    "name": "Erg",
                    "type": "synonym"
                },
                {
                    "name": "Kcnh2",
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                }
            ],
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                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0N7-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 1",
                    "type": "recommended"
                },
                {
                    "name": "IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1",
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                },
                {
                    "name": "KQT-like 1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.1",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage-gated KQT-like subfamily Q, member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, KQT-like subfamily, member 1",
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                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.1",
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                }
            ],
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                {
                    "name": "Kcnq1",
                    "type": "recommended"
                },
                {
                    "name": "Kcna9",
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                },
                {
                    "name": "Kcnq1",
                    "type": "synonym"
                },
                {
                    "name": "Kvlqt1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
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        {
            "uniprot_canonical_ac": "O54853-1",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Voltage-gated inwardly rectifying potassium channel KCNH6",
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                },
                {
                    "name": "ERG-2",
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                {
                    "name": "Eag-related gene member 2",
                    "type": "synonym"
                },
                {
                    "name": "Eag-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Ether-a-go-go-related gene potassium channel 2",
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                },
                {
                    "name": "Ether-a-go-go-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily H member 6",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv11.2",
                    "type": "synonym"
                },
                {
                    "name": "eag-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ether-a-go-go-related gene potassium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "ether-a-go-go-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated eag related subfamily H, member 6",
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                },
                {
                    "name": "potassium voltage-gated channel, subfamily H (eag-related), member 6",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated inwardly rectifying potassium channel KCNH6",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv11.2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Kcnh6",
                    "type": "recommended"
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                {
                    "name": "Erg2",
                    "type": "synonym"
                },
                {
                    "name": "Kcnh6",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23348-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Anion exchange protein 3",
                    "type": "recommended"
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                {
                    "name": "AE 3",
                    "type": "synonym"
                },
                {
                    "name": "Anion exchanger 3",
                    "type": "synonym"
                },
                {
                    "name": "B3RP-3",
                    "type": "synonym"
                },
                {
                    "name": "Band 3-related protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal band 3-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4 member 3",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 4, member 3, anion exchange protein 3",
                    "type": "synonym"
                },
                {
                    "name": "anion exchange protein 3",
                    "type": "synonym"
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                {
                    "name": "anion exchanger 3",
                    "type": "synonym"
                },
                {
                    "name": "band 3-related protein 3",
                    "type": "synonym"
                },
                {
                    "name": "neuronal band 3-like protein",
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                },
                {
                    "name": "solute carrier family 4 (anion exchanger), member 3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Slc4a3",
                    "type": "recommended"
                },
                {
                    "name": "Ae3",
                    "type": "synonym"
                },
                {
                    "name": "Aep3",
                    "type": "synonym"
                },
                {
                    "name": "B3rp3",
                    "type": "synonym"
                },
                {
                    "name": "Slc4a3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4LHI9-1",
            "uniprot_ac": "A0A0B4LHI9",
            "uniprot_id": "A0A0B4LHI9_DROME",
            "refseq_ac": "NP_001287485",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4370-PD",
                    "type": "synonym"
                },
                {
                    "name": "Inwardly rectifying potassium channel 2, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Irk2-PD",
                    "type": "synonym"
                },
                {
                    "name": "inwardly rectifying potassium channel 2, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irk2",
                    "type": "recommended"
                },
                {
                    "name": "CG10180",
                    "type": "synonym"
                },
                {
                    "name": "CG4370",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4370",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4370",
                    "type": "synonym"
                },
                {
                    "name": "Irk2",
                    "type": "synonym"
                },
                {
                    "name": "Kir2",
                    "type": "synonym"
                },
                {
                    "name": "dIRK-2",
                    "type": "synonym"
                },
                {
                    "name": "dKirII",
                    "type": "synonym"
                },
                {
                    "name": "dKir",
                    "type": "synonym"
                },
                {
                    "name": "irk2",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KH86-1",
            "uniprot_ac": "A0A0B4KH86",
            "uniprot_id": "A0A0B4KH86_DROME",
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG44159-PF",
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                },
                {
                    "name": "Inwardly rectifying potassium channel 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Inwardly rectifying potassium channel 1, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Irk1-PF",
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                },
                {
                    "name": "drosophila inward rectifier",
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                },
                {
                    "name": "inwardly rectifying potassium channel 1, isoform F",
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                },
                {
                    "name": "inwardly rectifying potassium channel",
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                }
            ],
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                {
                    "name": "Irk1",
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                {
                    "name": "CG13836",
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                {
                    "name": "CG44159",
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                {
                    "name": "CG6747",
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                },
                {
                    "name": "DIR",
                    "type": "synonym"
                },
                {
                    "name": "Dir",
                    "type": "synonym"
                },
                {
                    "name": "Dm_3R:100326",
                    "type": "synonym"
                },
                {
                    "name": "Dm_3R:100349",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44159",
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                },
                {
                    "name": "Dmel_CG44159",
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                },
                {
                    "name": "Irk1",
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                },
                {
                    "name": "Ir",
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                },
                {
                    "name": "Kir1",
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                },
                {
                    "name": "dIRK",
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                },
                {
                    "name": "dKirI",
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                },
                {
                    "name": "irk1",
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                },
                {
                    "name": "ir",
                    "type": "synonym"
                }
            ],
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                    "id": "0050793",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q9VT48-1",
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                {
                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Anion exchange protein",
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                {
                    "name": "Ae2-PA",
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                },
                {
                    "name": "CG8177-PA",
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                },
                {
                    "name": "anion exchanger 2, isoform A",
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                {
                    "name": "anion exchanger 2",
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                },
                {
                    "name": "drosophila anion exchanger",
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                }
            ],
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                {
                    "name": "Ae2",
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                {
                    "name": "Ae2",
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                },
                {
                    "name": "BcDNA:RE59468",
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                },
                {
                    "name": "CG8177",
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                {
                    "name": "DAE",
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                },
                {
                    "name": "Dmel\\CG8177",
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                {
                    "name": "Dmel_CG8177",
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                },
                {
                    "name": "ae2",
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                },
                {
                    "name": "anon-EST:Posey259",
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                }
            ],
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                    "id": "0050793",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P68106-1",
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Peptidyl-prolyl cis-trans isomerase FKBP1B",
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                    "name": "12.6 kDa FK506-binding protein",
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                },
                {
                    "name": "12.6 kDa FKBP",
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                {
                    "name": "5.2.1.8",
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                {
                    "name": "FK506 binding protein 1B, 12.6 kDa",
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                {
                    "name": "FK506-binding protein 12.6",
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                {
                    "name": "FK506-binding protein 1B",
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                {
                    "name": "FKBP-12.6",
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                {
                    "name": "FKBP-1B",
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                },
                {
                    "name": "Immunophilin FKBP12.6",
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                },
                {
                    "name": "PPIase FKBP1B",
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                },
                {
                    "name": "Rotamase",
                    "type": "synonym"
                },
                {
                    "name": "calstabin 2",
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                },
                {
                    "name": "h-FKBP-12",
                    "type": "synonym"
                },
                {
                    "name": "immunophilin FKBP12.6",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP1B isoform a",
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                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP1B",
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                {
                    "name": "rotamase",
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                }
            ],
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                    "name": "FKBP1B",
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                    "name": "FKBP12.6",
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                },
                {
                    "name": "FKBP1B",
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                },
                {
                    "name": "FKBP1L",
                    "type": "synonym"
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                {
                    "name": "FKBP9",
                    "type": "synonym"
                },
                {
                    "name": "OTK4",
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                },
                {
                    "name": "PKBP1L",
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                {
                    "name": "PPIase",
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                }
            ],
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                {
                    "id": "0050793",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9H252-4",
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                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "Eag-related protein 2",
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                {
                    "name": "Ether-a-go-go-related gene potassium channel 2",
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                {
                    "name": "Ether-a-go-go-related protein 2",
                    "type": "synonym"
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                {
                    "name": "Potassium voltage-gated channel subfamily H member 6",
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                {
                    "name": "Voltage-gated potassium channel subunit Kv11.2",
                    "type": "synonym"
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                {
                    "name": "eag-related gene member 2",
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                {
                    "name": "ether-a-go-go-related protein 2",
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                {
                    "name": "hERG2",
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                {
                    "name": "potassium channel, voltage gated eag related subfamily H, member 6",
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                {
                    "name": "potassium voltage-gated channel, subfamily H (eag-related), member 6",
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                {
                    "name": "voltage-gated inwardly rectifying potassium channel KCNH6 isoform 4",
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                {
                    "name": "voltage-gated inwardly rectifying potassium channel KCNH6",
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                {
                    "name": "voltage-gated potassium channel subunit Kv11.2",
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            ],
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                    "name": "KCNH6",
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                {
                    "name": "ERG2",
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                    "name": "HERG2",
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                    "name": "KCNH6",
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                {
                    "name": "Kv11.2",
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                {
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            ],
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                    "id": "0050793",
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                }
            ]
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                }
            ],
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                    "name": "AE 3",
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                {
                    "name": "Anion exchanger 3, neuronal",
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                {
                    "name": "Anion exchanger 3",
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                {
                    "name": "CAE3/BAE3",
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                {
                    "name": "Cardiac/brain band 3-like protein",
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                {
                    "name": "Neuronal band 3-like protein",
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                {
                    "name": "Solute carrier family 4 member 3",
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                {
                    "name": "anion exchange protein 3 isoform 2",
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                {
                    "name": "anion exchange protein 3",
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                {
                    "name": "cardiac/brain band 3-like protein",
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                },
                {
                    "name": "neuronal band 3-like protein",
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                {
                    "name": "solute carrier family 4 (anion exchanger), member 3",
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                }
            ],
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                {
                    "name": "SLC4A3",
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                {
                    "name": "AE3",
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                },
                {
                    "name": "CAE3/BAE3",
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                },
                {
                    "name": "SLC2C",
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                },
                {
                    "name": "SLC4A3",
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                {
                    "name": "SQT7",
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                }
            ],
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                {
                    "id": "0050793",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050793"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050793"
}