{
    "disease_id": "DOID:0080685",
    "recommended_name": {
        "id": "DOID:0080685",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080685",
        "name": "aortic dissection",
        "description": "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall."
    },
    "synonyms": [],
    "children": [],
    "id_list": [
        "DOID:0080685"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080685",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080685",
            "categories": []
        }
    ],
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                }
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                    "name": "Ephb2",
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                    "name": "Epth2",
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                    "type": "synonym"
                },
                {
                    "name": "PSF",
                    "type": "synonym"
                },
                {
                    "name": "Z",
                    "type": "synonym"
                },
                {
                    "name": "nonA 1",
                    "type": "synonym"
                },
                {
                    "name": "nonA-1",
                    "type": "synonym"
                },
                {
                    "name": "nonA-l",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080685",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080685"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K651-1",
            "uniprot_ac": "A0A0B4K651",
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                }
            ],
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                {
                    "name": "Best1-PC",
                    "type": "synonym"
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                {
                    "name": "Bestrophin 1, isoform C",
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                },
                {
                    "name": "CG6264-PC",
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                {
                    "name": "bestrophin 1, isoform C",
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                }
            ],
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                    "name": "Best1",
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                {
                    "name": "Best1",
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                    "name": "CG6264",
                    "type": "synonym"
                },
                {
                    "name": "Dbest",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6264",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6264",
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                },
                {
                    "name": "anon-WO0118547.380",
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                },
                {
                    "name": "best",
                    "type": "synonym"
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                {
                    "name": "dBest1",
                    "type": "synonym"
                },
                {
                    "name": "dbest1",
                    "type": "synonym"
                },
                {
                    "name": "dmBest1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080685",
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                }
            ]
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        {
            "uniprot_canonical_ac": "Q9VUM7-1",
            "uniprot_ac": "Q9VUM7",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                {
                    "name": "Bestrophin homolog",
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                {
                    "name": "Best3-PA",
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                {
                    "name": "CG12327-PA",
                    "type": "synonym"
                },
                {
                    "name": "bestrophin 3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Best3",
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                {
                    "name": "Best3",
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                },
                {
                    "name": "CG12327",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12327",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12327",
                    "type": "synonym"
                },
                {
                    "name": "dBest3",
                    "type": "synonym"
                },
                {
                    "name": "dbest3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUM7-1",
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                {
                    "id": "0080685",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080685"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q93034-1",
            "uniprot_ac": "Q93034",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Cullin-5",
                    "type": "recommended"
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                {
                    "name": "CUL-5",
                    "type": "synonym"
                },
                {
                    "name": "Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1)",
                    "type": "synonym"
                },
                {
                    "name": "VACM-1",
                    "type": "synonym"
                },
                {
                    "name": "Vasopressin-activated calcium-mobilizing receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "Vasopressin-activated calcium-mobilizing receptor-1",
                    "type": "synonym"
                },
                {
                    "name": "cullin-5",
                    "type": "synonym"
                },
                {
                    "name": "vasopressin-activated calcium-mobilizing receptor 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CUL5",
                    "type": "recommended"
                },
                {
                    "name": "CUL-5",
                    "type": "synonym"
                },
                {
                    "name": "CUL5",
                    "type": "synonym"
                },
                {
                    "name": "VACM-1",
                    "type": "synonym"
                },
                {
                    "name": "VACM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q93034-1",
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                {
                    "id": "0080685",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080685"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51798-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 7",
                    "type": "recommended"
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                {
                    "name": "Chloride channel 7 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Chloride channel protein 7",
                    "type": "synonym"
                },
                {
                    "name": "ClC-7",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 7 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 7 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 7",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 7",
                    "type": "synonym"
                },
                {
                    "name": "chloride voltage-gated channel 7",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 7",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 63",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CLCN7",
                    "type": "recommended"
                },
                {
                    "name": "CLC-7",
                    "type": "synonym"
                },
                {
                    "name": "CLC7",
                    "type": "synonym"
                },
                {
                    "name": "CLCN7",
                    "type": "synonym"
                },
                {
                    "name": "HOD",
                    "type": "synonym"
                },
                {
                    "name": "OPTA2",
                    "type": "synonym"
                },
                {
                    "name": "OPTB4",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R63",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080685",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080685"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10451-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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            ],
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                    "name": "Osteopontin",
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                {
                    "name": "Bone sialoprotein 1",
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                {
                    "name": "Nephropontin",
                    "type": "synonym"
                },
                {
                    "name": "SPP-1",
                    "type": "synonym"
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                {
                    "name": "SPP1/CALPHA1 fusion",
                    "type": "synonym"
                },
                {
                    "name": "Secreted phosphoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "Urinary stone protein",
                    "type": "synonym"
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                {
                    "name": "Uropontin",
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                {
                    "name": "lnc-PKD2-2-3",
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                {
                    "name": "nephropontin",
                    "type": "synonym"
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                {
                    "name": "osteopontin isoform OPN-b precursor",
                    "type": "synonym"
                },
                {
                    "name": "osteopontin/immunoglobulin alpha 1 heavy chain constant region fusion protein",
                    "type": "synonym"
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                {
                    "name": "secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)",
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                },
                {
                    "name": "urinary stone protein",
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                }
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                {
                    "name": "BNSP",
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                {
                    "name": "BSPI",
                    "type": "synonym"
                },
                {
                    "name": "ETA-1",
                    "type": "synonym"
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                {
                    "name": "OPN",
                    "type": "synonym"
                },
                {
                    "name": "PSEC0156",
                    "type": "synonym"
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                {
                    "name": "SPP1",
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                }
            ],
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                    "id": "0080685",
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            ]
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                {
                    "name": "55 kDa nuclear protein",
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                {
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                {
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                {
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                    "name": "p54nrb",
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                    "id": "0080685",
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                    "name": "EFEMP2",
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                    "name": "MBP1",
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                    "name": "PRO226",
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                    "id": "0080685",
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                    "name": "Actin, alpha skeletal muscle",
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                {
                    "name": "Alpha-actin-1",
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                {
                    "name": "actin, alpha skeletal muscle",
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                    "name": "nemaline myopathy type 3",
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                {
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                    "name": "CFTDM",
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                    "name": "CFTD",
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                    "name": "CMYO2A",
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                {
                    "name": "CMYO2B",
                    "type": "synonym"
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                {
                    "name": "CMYO2C",
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                    "name": "CMYP2A",
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                    "name": "CMYP2B",
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                    "name": "CMYP2C",
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                    "name": "MPFD",
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                    "name": "NEM1",
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                    "name": "NEM2",
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                {
                    "name": "NEM3",
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                {
                    "name": "SHPM",
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                    "id": "0080685",
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                    "name": "EK6",
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                    "name": "ELK",
                    "type": "synonym"
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                    "name": "EPH tyrosine kinase 2",
                    "type": "synonym"
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                    "name": "EPH-like kinase 6",
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                {
                    "name": "NET",
                    "type": "synonym"
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                    "name": "Neuronally-expressed EPH-related tyrosine kinase",
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                    "name": "eph tyrosine kinase 2",
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                {
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                    "name": "hEK6",
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                {
                    "name": "neuronally-expressed EPH-related tyrosine kinase",
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                    "name": "tyrosine-protein kinase receptor EPH-2",
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                    "name": "EPHB1",
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                {
                    "name": "EPHT2",
                    "type": "synonym"
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                {
                    "name": "HEK6",
                    "type": "synonym"
                },
                {
                    "name": "Hek6",
                    "type": "synonym"
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                    "name": "NET",
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                    "id": "0080685",
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                    "taxid": 9606,
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                    "glygen_name": "Human",
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            ],
            "protein_names": [
                {
                    "name": "Fibrillin-1",
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                },
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                    "name": "asprosin",
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                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin 15",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin-1 isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin-1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBN1",
                    "type": "recommended"
                },
                {
                    "name": "ACMICD",
                    "type": "synonym"
                },
                {
                    "name": "ECTOL1",
                    "type": "synonym"
                },
                {
                    "name": "FBN1",
                    "type": "synonym"
                },
                {
                    "name": "FBN",
                    "type": "synonym"
                },
                {
                    "name": "GPHYSD2",
                    "type": "synonym"
                },
                {
                    "name": "MASS",
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                },
                {
                    "name": "MFLS",
                    "type": "synonym"
                },
                {
                    "name": "MFS1",
                    "type": "synonym"
                },
                {
                    "name": "OCTD",
                    "type": "synonym"
                },
                {
                    "name": "SGS",
                    "type": "synonym"
                },
                {
                    "name": "SSKS",
                    "type": "synonym"
                },
                {
                    "name": "WMS2",
                    "type": "synonym"
                },
                {
                    "name": "WMS",
                    "type": "synonym"
                }
            ],
            "record_id": "P35555-1",
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                {
                    "id": "0080685",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080685"
                }
            ]
        },
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            "uniprot_ac": "Q8N1M1",
            "uniprot_id": "BEST3_HUMAN",
            "refseq_ac": "NP_001269542",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bestrophin-3",
                    "type": "recommended"
                },
                {
                    "name": "Vitelliform macular dystrophy 2-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "bestrophin-3 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "vitelliform macular dystrophy 2-like 3",
                    "type": "synonym"
                },
                {
                    "name": "vitelliform macular dystrophy 2-like protein 3",
                    "type": "synonym"
                }
            ],
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                    "name": "BEST3",
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                    "name": "BEST3",
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                },
                {
                    "name": "VMD2L3",
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                }
            ],
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                    "id": "0080685",
                    "database": "AGR",
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                }
            ]
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            "uniprot_canonical_ac": "Q6ZMV9-1",
            "uniprot_ac": "Q6ZMV9",
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            "refseq_ac": "NP_001275953",
            "glycoprotein": "no",
            "species": [
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF6",
                    "type": "recommended"
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                {
                    "name": "kinesin-like protein KIF6 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF6",
                    "type": "recommended"
                },
                {
                    "name": "C6orf102",
                    "type": "synonym"
                },
                {
                    "name": "KIF6",
                    "type": "synonym"
                },
                {
                    "name": "dJ1043E3.1",
                    "type": "synonym"
                },
                {
                    "name": "dJ137F1.4",
                    "type": "synonym"
                },
                {
                    "name": "dJ188D3.1",
                    "type": "synonym"
                }
            ],
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                    "id": "0080685",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080685"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080685"
}