{
    "disease_id": "DOID:0060410",
    "recommended_name": {
        "id": "DOID:0060410",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060410",
        "name": "chromosome 1p36 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears."
    },
    "synonyms": [
        {
            "id": "DOID:0060410",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060410",
            "name": "1p36 deletion syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060410",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060410",
            "name": "deletion 1p36",
            "description": ""
        },
        {
            "id": "DOID:0060410",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060410",
            "name": "monosomy 1p36",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "chromosome 1p36 deletion syndrome",
            "description": "A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency."
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "1p telomere deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "1p36 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "1p36 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "Del(1)(p36)",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "chromosome 1p36 deletion syndrome, distal, isolated cases",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "deletion 1p36",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "deletion 1pter",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "monosomy 1p36",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "monosomy 1pter",
            "description": ""
        },
        {
            "id": "MONDO:0011929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "name": "subtelomeric 1p36 deletion",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060410"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060410",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060410",
            "categories": []
        },
        {
            "id": "MONDO:0011929",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011929",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0A8M3B6A1",
            "uniprot_id": "A0A8M3B6A1_DANRE",
            "refseq_ac": "XP_009295241",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein castor homolog 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein castor homolog 1 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "casz1",
                    "type": "recommended"
                },
                {
                    "name": "casz1",
                    "type": "synonym"
                }
            ],
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                    "id": "0060410",
                    "database": "AGR",
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                }
            ]
        },
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            "uniprot_canonical_ac": "A0AC58GU13-1",
            "uniprot_ac": "A0AC58GU13",
            "uniprot_id": "A0AC58GU13_DANRE",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated potassium channel subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "K(+) channel subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Kv-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit beta-2 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "kcnab2a",
                    "type": "recommended"
                },
                {
                    "name": "kcnab2a",
                    "type": "synonym"
                }
            ],
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                    "id": "0060410",
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                }
            ]
        },
        {
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            "uniprot_ac": "A0A8M2B970",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Voltage-gated potassium channel subunit beta-1",
                    "type": "recommended"
                },
                {
                    "name": "K(+) channel subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Kv-beta-1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit beta-1-like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kcnab2b",
                    "type": "recommended"
                },
                {
                    "name": "kcnab2b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:171453",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62482-1",
            "uniprot_ac": "P62482",
            "uniprot_id": "KCAB2_MOUSE",
            "refseq_ac": "NP_001239585",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated potassium channel subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "K(+) channel subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Kv-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Neuroimmune protein F5",
                    "type": "synonym"
                },
                {
                    "name": "neuroimmune protein F5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit beta-2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit beta-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnab2",
                    "type": "recommended"
                },
                {
                    "name": "Ckbeta2",
                    "type": "synonym"
                },
                {
                    "name": "F5",
                    "type": "synonym"
                },
                {
                    "name": "I2rf5",
                    "type": "synonym"
                },
                {
                    "name": "Kcnab2",
                    "type": "synonym"
                },
                {
                    "name": "Kcnb3",
                    "type": "synonym"
                },
                {
                    "name": "kv-beta-2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CWL2-1",
            "uniprot_ac": "Q9CWL2",
            "uniprot_id": "CASZ1_MOUSE",
            "refseq_ac": "NP_081471",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein castor homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "Castor-related protein",
                    "type": "synonym"
                },
                {
                    "name": "castor homolog 1, zinc finger",
                    "type": "synonym"
                },
                {
                    "name": "castor-related protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein castor homolog 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein castor homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Casz1",
                    "type": "recommended"
                },
                {
                    "name": "2410019P08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Casz1",
                    "type": "synonym"
                },
                {
                    "name": "Cst",
                    "type": "synonym"
                },
                {
                    "name": "D4Ertd432e",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa3026",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CWL2-1",
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                {
                    "id": "0060410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02895-1",
            "uniprot_ac": "Q02895",
            "uniprot_id": "AAD16_YEAST",
            "refseq_ac": "NP_015237",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative aryl-alcohol dehydrogenase AAD16",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "aldo-keto reductase superfamily protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AAD16",
                    "type": "recommended"
                }
            ],
            "record_id": "Q02895-1",
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                {
                    "id": "0060410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZS43-1",
            "uniprot_ac": "A0A8I5ZS43",
            "uniprot_id": "A0A8I5ZS43_RAT",
            "refseq_ac": "XP_008762540",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Castor zinc finger 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein castor homolog 1 isoform X2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Casz1",
                    "type": "recommended"
                },
                {
                    "name": "Casz1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563533",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZS43-1",
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                {
                    "id": "0060410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62483-1",
            "uniprot_ac": "P62483",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated potassium channel subunit beta-2",
                    "type": "recommended"
                },
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                    "name": "1.1.1.-",
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                },
                {
                    "name": "K(+) channel subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Kv-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "kv-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated shaker-related subfamily A regulatory beta subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated subfamily A regulatory beta subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, shaker-related subfamily, beta member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit beta-2 isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit beta-2",
                    "type": "synonym"
                }
            ],
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                    "name": "Kcnab2",
                    "type": "recommended"
                },
                {
                    "name": "Ckbeta2",
                    "type": "synonym"
                },
                {
                    "name": "Kcnab2",
                    "type": "synonym"
                },
                {
                    "name": "Kcnb3",
                    "type": "synonym"
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                {
                    "id": "0060410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060410"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q7M3M8-1",
            "uniprot_ac": "Q7M3M8",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor castor",
                    "type": "recommended"
                },
                {
                    "name": "CG2102-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein ming",
                    "type": "synonym"
                },
                {
                    "name": "cas-PA",
                    "type": "synonym"
                },
                {
                    "name": "castor, isoform A",
                    "type": "synonym"
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                {
                    "name": "castor",
                    "type": "synonym"
                }
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                {
                    "name": "cas",
                    "type": "recommended"
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                    "name": "CAS",
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                },
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                    "name": "CG2102",
                    "type": "synonym"
                },
                {
                    "name": "Cas",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2102",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2102",
                    "type": "synonym"
                },
                {
                    "name": "cas",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j1C2",
                    "type": "synonym"
                },
                {
                    "name": "l(3)neo33",
                    "type": "synonym"
                },
                {
                    "name": "ming",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060410"
                }
            ]
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            "uniprot_canonical_ac": "Q9VTJ3-1",
            "uniprot_ac": "Q9VTJ3",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "C2H2-type domain-containing protein",
                    "type": "recommended"
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                    "name": "CG7512-PB",
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                    "name": "uncharacterized protein",
                    "type": "synonym"
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                    "name": "Dmel\\CG7512",
                    "type": "recommended"
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                    "name": "CG7512",
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                {
                    "name": "Dmel\\CG7512",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG7512",
                    "type": "synonym"
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                {
                    "id": "0060410",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PHI0-1",
            "uniprot_ac": "M9PHI0",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG43388-PM",
                    "type": "synonym"
                },
                {
                    "name": "Hk-PM",
                    "type": "synonym"
                },
                {
                    "name": "Hyperkinetic, isoform M",
                    "type": "synonym"
                },
                {
                    "name": "hyperkinetic, isoform M",
                    "type": "synonym"
                },
                {
                    "name": "hyperkinetic",
                    "type": "synonym"
                },
                {
                    "name": "hyperk",
                    "type": "synonym"
                },
                {
                    "name": "kvbeta channel subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hk",
                    "type": "recommended"
                },
                {
                    "name": "CG17779",
                    "type": "synonym"
                },
                {
                    "name": "CG2287",
                    "type": "synonym"
                },
                {
                    "name": "CG32688",
                    "type": "synonym"
                },
                {
                    "name": "CG34319",
                    "type": "synonym"
                },
                {
                    "name": "CG43388",
                    "type": "synonym"
                },
                {
                    "name": "Dm_X:51771",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43388",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43388",
                    "type": "synonym"
                },
                {
                    "name": "HK",
                    "type": "synonym"
                },
                {
                    "name": "Hk",
                    "type": "synonym"
                },
                {
                    "name": "hk",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.975",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86V15-1",
            "uniprot_ac": "Q86V15",
            "uniprot_id": "CASZ1_HUMAN",
            "refseq_ac": "NP_001073312",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein castor homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "Castor-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Putative survival-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 693",
                    "type": "synonym"
                },
                {
                    "name": "castor homolog 1, zinc finger",
                    "type": "synonym"
                },
                {
                    "name": "castor-related protein",
                    "type": "synonym"
                },
                {
                    "name": "survival-related",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 693",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein castor homolog 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein castor homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CASZ1",
                    "type": "recommended"
                },
                {
                    "name": "CAS11",
                    "type": "synonym"
                },
                {
                    "name": "CASZ1",
                    "type": "synonym"
                },
                {
                    "name": "CST",
                    "type": "synonym"
                },
                {
                    "name": "SRG",
                    "type": "synonym"
                },
                {
                    "name": "ZNF693",
                    "type": "synonym"
                },
                {
                    "name": "dJ734G22.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86V15-1",
            "evidence": [
                {
                    "id": "0060410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060410"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13303-1",
            "uniprot_ac": "Q13303",
            "uniprot_id": "KCAB2_HUMAN",
            "refseq_ac": "NP_001186789",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated potassium channel subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "K(+) channel subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Kv-beta-2",
                    "type": "synonym"
                },
                {
                    "name": "hKvbeta2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated subfamily A regulatory beta subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, shaker-related subfamily, beta member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit beta-2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNAB2",
                    "type": "recommended"
                },
                {
                    "name": "AKR6A5",
                    "type": "synonym"
                },
                {
                    "name": "HKvbeta2.1",
                    "type": "synonym"
                },
                {
                    "name": "HKvbeta2.2",
                    "type": "synonym"
                },
                {
                    "name": "HKvbeta2",
                    "type": "synonym"
                },
                {
                    "name": "KCNA2B",
                    "type": "synonym"
                },
                {
                    "name": "KCNAB2",
                    "type": "synonym"
                },
                {
                    "name": "KCNK2",
                    "type": "synonym"
                },
                {
                    "name": "KV-BETA-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13303-1",
            "evidence": [
                {
                    "id": "0060410",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060410"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060410"
}