{
    "disease_id": "DOID:0080391",
    "recommended_name": {
        "id": "DOID:0080391",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080391",
        "name": "nephrotic syndrome type 9",
        "description": "A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014257",
            "name": "nephrotic syndrome, type 9",
            "description": "Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene."
        },
        {
            "id": "MONDO:0014257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014257",
            "name": "COQ8B nephrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014257",
            "name": "nephrotic syndrome caused by mutation in COQ8B",
            "description": ""
        },
        {
            "id": "MONDO:0014257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014257",
            "name": "nephrotic syndrome, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0014257",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014257",
            "name": "NPHS9",
            "description": ""
        },
        {
            "id": "MIM:615573",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615573",
            "name": "Nephrotic syndrome 9",
            "description": "Nephrotic syndrome 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080391"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080391",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080391",
            "categories": []
        },
        {
            "id": "MONDO:0014257",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014257",
            "categories": []
        },
        {
            "id": "MIM:615573",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615573",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A3QJU3-1",
            "uniprot_ac": "A3QJU3",
            "uniprot_id": "COQ8B_DANRE",
            "refseq_ac": "NP_001410931",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atypical kinase COQ8B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.-.-",
                    "type": "synonym"
                },
                {
                    "name": "AarF domain-containing protein kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q protein 8B",
                    "type": "synonym"
                },
                {
                    "name": "aarF domain containing kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "aarF domain-containing protein kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "atypical kinase COQ8B, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q protein 8B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coq8b",
                    "type": "recommended"
                },
                {
                    "name": "adck4",
                    "type": "synonym"
                },
                {
                    "name": "coq8b",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-114g7.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A3QJU3-1",
            "evidence": [
                {
                    "id": "0080391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F0M3-1",
            "uniprot_ac": "E7F0M3",
            "uniprot_id": "E7F0M3_DANRE",
            "refseq_ac": "XP_021328728",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Atypical kinase COQ8A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Chaperone activity of bc1 complex-like",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q protein 8A",
                    "type": "synonym"
                },
                {
                    "name": "aarF domain-containing protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "atypical kinase COQ8A, mitochondrial-like isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coq8ab",
                    "type": "recommended"
                },
                {
                    "name": "coq8ab",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F0M3-1",
            "evidence": [
                {
                    "id": "0080391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RGU1-1",
            "uniprot_ac": "Q5RGU1",
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            "refseq_ac": "NP_001002728",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Atypical kinase COQ8A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.-.-",
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                },
                {
                    "name": "Chaperone activity of bc1 complex-like",
                    "type": "synonym"
                },
                {
                    "name": "Chaperone-ABC1-like",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "aarF domain containing kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "aarF domain-containing protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "atypical kinase ADCK3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "atypical kinase COQ8A, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "chaperone activity of bc1 complex-like, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q protein 8A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coq8a",
                    "type": "recommended"
                },
                {
                    "name": "adck3",
                    "type": "synonym"
                },
                {
                    "name": "cabc1",
                    "type": "synonym"
                },
                {
                    "name": "coq8aa",
                    "type": "synonym"
                },
                {
                    "name": "coq8a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92578",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RGU1-1",
            "evidence": [
                {
                    "id": "0080391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q566J8-1",
            "uniprot_ac": "Q566J8",
            "uniprot_id": "COQ8B_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atypical kinase COQ8B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.-.-",
                    "type": "synonym"
                },
                {
                    "name": "AarF domain-containing protein kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q protein 8B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq8b",
                    "type": "recommended"
                },
                {
                    "name": "Adck4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q566J8-1",
            "evidence": [
                {
                    "id": "0080391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60936-1",
            "uniprot_ac": "Q60936",
            "uniprot_id": "COQ8A_MOUSE",
            "refseq_ac": "NP_001156762",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atypical kinase COQ8A, mitochondrial",
                    "type": "recommended"
                },
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                },
                {
                    "name": "Chaperone activity of bc1 complex-like",
                    "type": "synonym"
                },
                {
                    "name": "Chaperone-ABC1-like",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q protein 8A",
                    "type": "synonym"
                },
                {
                    "name": "aarF domain containing kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "aarF domain-containing protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "atypical kinase ADCK3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "atypical kinase COQ8A, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "atypical kinase COQ8A, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "chaperone activity of bc1 complex-like, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "chaperone, ABC1 activity of bc1 complex like",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q protein 8A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coq8a",
                    "type": "recommended"
                },
                {
                    "name": "4632432J16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Adck3",
                    "type": "synonym"
                },
                {
                    "name": "Cabc1",
                    "type": "synonym"
                },
                {
                    "name": "Coq8a",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0451",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60936-1",
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                {
                    "id": "0080391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96D53-1",
            "uniprot_ac": "Q96D53",
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            "refseq_ac": "NP_001136027",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atypical kinase COQ8B, mitochondrial",
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                },
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                },
                {
                    "name": "AarF domain-containing protein kinase 4",
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                {
                    "name": "Coenzyme Q protein 8B",
                    "type": "synonym"
                },
                {
                    "name": "aarF domain containing kinase 4",
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                },
                {
                    "name": "aarF domain-containing protein kinase 4",
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                },
                {
                    "name": "atypical kinase COQ8B, mitochondrial isoform b",
                    "type": "synonym"
                },
                {
                    "name": "atypical kinase COQ8B, mitochondrial",
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                {
                    "name": "coenzyme Q protein 8B",
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            ],
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                {
                    "name": "COQ8B",
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                    "name": "ADCK4",
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                },
                {
                    "name": "COQ8B",
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                {
                    "name": "NPHS9",
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            ],
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                {
                    "id": "615573",
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                },
                {
                    "id": "0080391",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27697-1",
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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": "Atypical kinase COQ8, mitochondrial",
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                },
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                    "name": "Activity of bc1 complex protein 1",
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                },
                {
                    "name": "Coenzyme Q protein 8",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquinone biosynthesis protein COQ8",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase COQ8",
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                }
            ],
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                    "name": "COQ8",
                    "type": "recommended"
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                    "name": "ABC1",
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                    "name": "COQ8",
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                    "id": "0080391",
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                }
            ]
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        {
            "uniprot_canonical_ac": "Q6AY19-1",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Atypical kinase COQ8B, mitochondrial",
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                    "name": "AarF domain-containing protein kinase 4",
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                    "name": "aarF domain containing kinase 4",
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                },
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                    "name": "aarF domain-containing protein kinase 4",
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                    "name": "atypical kinase COQ8B, mitochondrial",
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                {
                    "name": "coenzyme Q protein 8B",
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                {
                    "name": "Coq8b",
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                {
                    "name": "Adck4",
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                },
                {
                    "name": "Coq8b",
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                    "id": "0080391",
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                    "name": "Rattus norvegicus",
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                }
            ],
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                {
                    "name": "Atypical kinase COQ8A, mitochondrial",
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                    "name": "Chaperone activity of bc1 complex-like",
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                    "name": "Coenzyme Q protein 8A",
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                },
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                    "name": "atypical kinase ADCK3, mitochondrial",
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            ],
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                    "id": "0080391",
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                }
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "CG32649-PA",
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                    "name": "Coenzyme Q8",
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                {
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                {
                    "name": "coenzyme Q8",
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            ],
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                    "name": "Coq8",
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                    "name": "Adck4",
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                    "name": "CG32649",
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                    "name": "CG4410",
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                },
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                    "name": "Coq8",
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                },
                {
                    "name": "Dmel\\CG32649",
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                {
                    "name": "Dmel_CG32649",
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                    "name": "dADCK3/4",
                    "type": "synonym"
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                {
                    "name": "dcoq8",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NI60-1",
            "uniprot_ac": "Q8NI60",
            "uniprot_id": "COQ8A_HUMAN",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
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                    "name": "Atypical kinase COQ8A, mitochondrial",
                    "type": "recommended"
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                {
                    "name": "Chaperone activity of bc1 complex-like",
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                },
                {
                    "name": "Chaperone-ABC1-like",
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                {
                    "name": "Coenzyme Q protein 8A",
                    "type": "synonym"
                },
                {
                    "name": "aarF domain-containing protein kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "atypical kinase ADCK3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "atypical kinase COQ8A, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "chaperone activity of bc1 complex-like, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "chaperone, ABC1 activity of bc1 complex homolog",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q protein 8A",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q8 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ8A",
                    "type": "recommended"
                },
                {
                    "name": "ADCK3",
                    "type": "synonym"
                },
                {
                    "name": "ARCA2",
                    "type": "synonym"
                },
                {
                    "name": "CABC1",
                    "type": "synonym"
                },
                {
                    "name": "COQ10D4",
                    "type": "synonym"
                },
                {
                    "name": "COQ8A",
                    "type": "synonym"
                },
                {
                    "name": "COQ8",
                    "type": "synonym"
                },
                {
                    "name": "PP265",
                    "type": "synonym"
                },
                {
                    "name": "SCAR9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NI60-1",
            "evidence": [
                {
                    "id": "0080391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080391"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080391"
}