{
    "disease_id": "DOID:0060673",
    "recommended_name": {
        "id": "DOID:0060673",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060673",
        "name": "Peters anomaly",
        "description": "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3."
    },
    "synonyms": [],
    "children": [],
    "id_list": [
        "DOID:0060673"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060673",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060673",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JKD5-1",
            "uniprot_ac": "B8JKD5",
            "uniprot_id": "B8JKD5_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 1A",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cyp1b1",
                    "type": "recommended"
                },
                {
                    "name": "CYP1B",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136223",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JKD5-1",
            "evidence": [
                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IQL7-1",
            "uniprot_ac": "A0A0R4IQL7",
            "uniprot_id": "A0A0R4IQL7_DANRE",
            "refseq_ac": "XP_005168876",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-6",
                    "type": "recommended"
                },
                {
                    "name": "paired box protein Pax-6b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pax6b",
                    "type": "recommended"
                },
                {
                    "name": "Pax6.2",
                    "type": "synonym"
                },
                {
                    "name": "cb566",
                    "type": "synonym"
                },
                {
                    "name": "fc09c10",
                    "type": "synonym"
                },
                {
                    "name": "id:ibd5095",
                    "type": "synonym"
                },
                {
                    "name": "pax6b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc09c10",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc33g08",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IQL7-1",
            "evidence": [
                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26630-1",
            "uniprot_ac": "P26630",
            "uniprot_id": "PAX6_DANRE",
            "refseq_ac": "NP_571379",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-6",
                    "type": "recommended"
                },
                {
                    "name": "Pax[Zf-a]",
                    "type": "synonym"
                },
                {
                    "name": "etID309716.25",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 6a",
                    "type": "synonym"
                },
                {
                    "name": "paired box homeotic gene 6",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-6",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax[Zf-a]",
                    "type": "synonym"
                },
                {
                    "name": "pax-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pax6a",
                    "type": "recommended"
                },
                {
                    "name": "PAXZF-A",
                    "type": "synonym"
                },
                {
                    "name": "Pax6.1",
                    "type": "synonym"
                },
                {
                    "name": "cb280",
                    "type": "synonym"
                },
                {
                    "name": "fc20e07",
                    "type": "synonym"
                },
                {
                    "name": "pax-a",
                    "type": "synonym"
                },
                {
                    "name": "pax6a",
                    "type": "synonym"
                },
                {
                    "name": "pax6",
                    "type": "synonym"
                },
                {
                    "name": "pax[zf-a]",
                    "type": "synonym"
                },
                {
                    "name": "paxzf-a",
                    "type": "synonym"
                },
                {
                    "name": "paxzfa",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-46c10.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc20e07",
                    "type": "synonym"
                },
                {
                    "name": "zfpax-6a",
                    "type": "synonym"
                },
                {
                    "name": "zfpax-6b",
                    "type": "synonym"
                }
            ],
            "record_id": "P26630-1",
            "evidence": [
                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63015-1",
            "uniprot_ac": "P63015",
            "uniprot_id": "PAX6_MOUSE",
            "refseq_ac": "NP_001231127",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-6",
                    "type": "recommended"
                },
                {
                    "name": "Dickie's small eye",
                    "type": "synonym"
                },
                {
                    "name": "Oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 6",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax6",
                    "type": "recommended"
                },
                {
                    "name": "1500038E17Rik",
                    "type": "synonym"
                },
                {
                    "name": "AEY11",
                    "type": "synonym"
                },
                {
                    "name": "Dey",
                    "type": "synonym"
                },
                {
                    "name": "Gsfaey11",
                    "type": "synonym"
                },
                {
                    "name": "Pax-6",
                    "type": "synonym"
                },
                {
                    "name": "Pax6",
                    "type": "synonym"
                },
                {
                    "name": "Sey",
                    "type": "synonym"
                }
            ],
            "record_id": "P63015-1",
            "evidence": [
                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64429-1",
            "uniprot_ac": "Q64429",
            "uniprot_id": "CP1B1_MOUSE",
            "refseq_ac": "NP_034124",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 1B1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.1",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.152",
                    "type": "synonym"
                },
                {
                    "name": "CYPIB1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450CMEF",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450EF",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 1B1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 1B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, 1b1, benz[a]anthracene inducible",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450CMEF",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450EF",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp1b1",
                    "type": "recommended"
                },
                {
                    "name": "CP1B",
                    "type": "synonym"
                },
                {
                    "name": "CYPIB1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp1-b1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp1b1",
                    "type": "synonym"
                },
                {
                    "name": "P4501b1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64429-1",
            "evidence": [
                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64678-1",
            "uniprot_ac": "Q64678",
            "uniprot_id": "CP1B1_RAT",
            "refseq_ac": "NP_037072",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 1B1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.1",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.152",
                    "type": "synonym"
                },
                {
                    "name": "CYPIB1",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome P450RAP",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "P450RAP",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 1B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily 1B, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450RAP",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp1b1",
                    "type": "recommended"
                },
                {
                    "name": "Cyp1b1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64678-1",
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                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63016-1",
            "uniprot_ac": "P63016",
            "uniprot_id": "PAX6_RAT",
            "refseq_ac": "NP_037133",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-6",
                    "type": "recommended"
                },
                {
                    "name": "Oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 6",
                    "type": "synonym"
                },
                {
                    "name": "paired box homeotic gene 6",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax6",
                    "type": "recommended"
                },
                {
                    "name": "Pax-6",
                    "type": "synonym"
                },
                {
                    "name": "Pax6",
                    "type": "synonym"
                },
                {
                    "name": "Sey",
                    "type": "synonym"
                }
            ],
            "record_id": "P63016-1",
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                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12371-1",
            "uniprot_ac": "P12371",
            "uniprot_id": "FCERA_RAT",
            "refseq_ac": "NP_036856",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "High affinity immunoglobulin epsilon receptor subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Fc fragment of IgE receptor Ia",
                    "type": "synonym"
                },
                {
                    "name": "Fc fragment of IgE, high affinity I, receptor for",
                    "type": "synonym"
                },
                {
                    "name": "Fc receptor, IgE, high affinity I, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Fc-epsilon RI-alpha",
                    "type": "synonym"
                },
                {
                    "name": "FcERI",
                    "type": "synonym"
                },
                {
                    "name": "IgE Fc receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "fc-epsilon RI-alpha",
                    "type": "synonym"
                },
                {
                    "name": "fcERI",
                    "type": "synonym"
                },
                {
                    "name": "high affinity immunoglobulin epsilon receptor subunit alpha precursor",
                    "type": "synonym"
                },
                {
                    "name": "high affinity immunoglobulin epsilon receptor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "igE Fc receptor subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fcer1a",
                    "type": "recommended"
                },
                {
                    "name": "Fce1a",
                    "type": "synonym"
                },
                {
                    "name": "Fcer1a",
                    "type": "synonym"
                },
                {
                    "name": "Iger01",
                    "type": "synonym"
                },
                {
                    "name": "RATIGER01",
                    "type": "synonym"
                }
            ],
            "record_id": "P12371-1",
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                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRM7-1",
            "uniprot_ac": "Q9VRM7",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Cytochrome P450 307a1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG10594-PC",
                    "type": "synonym"
                },
                {
                    "name": "CYPCCCVIIA1",
                    "type": "synonym"
                },
                {
                    "name": "Protein spook",
                    "type": "synonym"
                },
                {
                    "name": "spo-PC",
                    "type": "synonym"
                },
                {
                    "name": "spook, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "spook",
                    "type": "synonym"
                }
            ],
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                    "name": "spo",
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                {
                    "name": "307a1",
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                },
                {
                    "name": "CG10594",
                    "type": "synonym"
                },
                {
                    "name": "CYP307A1-Dm",
                    "type": "synonym"
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                {
                    "name": "CYP307A1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp307a1",
                    "type": "synonym"
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                {
                    "name": "Dmel\\CG10594",
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                },
                {
                    "name": "Dmspo",
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                },
                {
                    "name": "Spo",
                    "type": "synonym"
                },
                {
                    "name": "spo",
                    "type": "synonym"
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            ],
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                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
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        {
            "uniprot_canonical_ac": "A8Y592-1",
            "uniprot_ac": "A8Y592",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "1.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "1.14.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG41624-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cyp307a2Psi",
                    "type": "synonym"
                },
                {
                    "name": "Spookier",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450",
                    "type": "synonym"
                },
                {
                    "name": "spok-PB",
                    "type": "synonym"
                },
                {
                    "name": "spook 2",
                    "type": "synonym"
                },
                {
                    "name": "spookier",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spok",
                    "type": "recommended"
                },
                {
                    "name": "307a2p",
                    "type": "synonym"
                },
                {
                    "name": "CG40123",
                    "type": "synonym"
                },
                {
                    "name": "CG41624",
                    "type": "synonym"
                },
                {
                    "name": "CYP307A2",
                    "type": "synonym"
                },
                {
                    "name": "Cyp307a2Psi",
                    "type": "synonym"
                },
                {
                    "name": "Cyp307a2p",
                    "type": "synonym"
                },
                {
                    "name": "Cyp307a2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG41624",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG41624",
                    "type": "synonym"
                },
                {
                    "name": "Dmspok",
                    "type": "synonym"
                },
                {
                    "name": "Spok",
                    "type": "synonym"
                },
                {
                    "name": "cyp307a2",
                    "type": "synonym"
                },
                {
                    "name": "spo2",
                    "type": "synonym"
                },
                {
                    "name": "spok",
                    "type": "synonym"
                }
            ],
            "record_id": "A8Y592-1",
            "evidence": [
                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A6H2EG63-1",
            "uniprot_ac": "A0A6H2EG63",
            "uniprot_id": "A0A6H2EG63_DROME",
            "refseq_ac": "NP_001368990",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11186-PD",
                    "type": "synonym"
                },
                {
                    "name": "Twin of eyeless, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "lethal(4)102CDg",
                    "type": "synonym"
                },
                {
                    "name": "toy-PD",
                    "type": "synonym"
                },
                {
                    "name": "twin of eyeless, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "twin of eyeless",
                    "type": "synonym"
                },
                {
                    "name": "twin-of-eyeless",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "toy",
                    "type": "recommended"
                },
                {
                    "name": "CG11186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11186",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11186",
                    "type": "synonym"
                },
                {
                    "name": "Pax-6",
                    "type": "synonym"
                },
                {
                    "name": "TOY",
                    "type": "synonym"
                },
                {
                    "name": "Toy",
                    "type": "synonym"
                },
                {
                    "name": "l(4)102CDg",
                    "type": "synonym"
                },
                {
                    "name": "l(4)8",
                    "type": "synonym"
                },
                {
                    "name": "toy",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A6H2EG63-1",
            "evidence": [
                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P67870-1",
            "uniprot_ac": "P67870",
            "uniprot_id": "CSK2B_HUMAN",
            "refseq_ac": "NP_001269314",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Casein kinase II subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "CK II beta",
                    "type": "synonym"
                },
                {
                    "name": "Casein kinase II beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Phosvitin",
                    "type": "synonym"
                },
                {
                    "name": "Protein G5a",
                    "type": "synonym"
                },
                {
                    "name": "alternative name: G5a, phosvitin",
                    "type": "synonym"
                },
                {
                    "name": "casein kinase 2, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "casein kinase II subunit beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "casein kinase II subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "phosvitin",
                    "type": "synonym"
                },
                {
                    "name": "protein G5a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CSNK2B",
                    "type": "recommended"
                },
                {
                    "name": "CK II beta",
                    "type": "synonym"
                },
                {
                    "name": "CK2B",
                    "type": "synonym"
                },
                {
                    "name": "CK2N",
                    "type": "synonym"
                },
                {
                    "name": "CSK2B",
                    "type": "synonym"
                },
                {
                    "name": "CSNK2B",
                    "type": "synonym"
                },
                {
                    "name": "Ckb1",
                    "type": "synonym"
                },
                {
                    "name": "Ckb2",
                    "type": "synonym"
                },
                {
                    "name": "G5A",
                    "type": "synonym"
                },
                {
                    "name": "POBINDS",
                    "type": "synonym"
                }
            ],
            "record_id": "P67870-1",
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                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49770-1",
            "uniprot_ac": "P49770",
            "uniprot_id": "EI2BB_HUMAN",
            "refseq_ac": "NP_055054",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "S20I15",
                    "type": "synonym"
                },
                {
                    "name": "S20III15",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2B2",
                    "type": "recommended"
                },
                {
                    "name": "EIF-2Bbeta",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B2",
                    "type": "synonym"
                },
                {
                    "name": "EIF2BB",
                    "type": "synonym"
                },
                {
                    "name": "EIF2Bbeta",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B",
                    "type": "synonym"
                },
                {
                    "name": "VWM2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49770-1",
            "evidence": [
                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26367-1",
            "uniprot_ac": "P26367",
            "uniprot_id": "PAX6_HUMAN",
            "refseq_ac": "NP_000271",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-6",
                    "type": "recommended"
                },
                {
                    "name": "Aniridia 1",
                    "type": "synonym"
                },
                {
                    "name": "Aniridia 2",
                    "type": "synonym"
                },
                {
                    "name": "Aniridia type II protein",
                    "type": "synonym"
                },
                {
                    "name": "Oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "alternative protein PAX6",
                    "type": "synonym"
                },
                {
                    "name": "aniridia type II protein",
                    "type": "synonym"
                },
                {
                    "name": "oculorhombin",
                    "type": "synonym"
                },
                {
                    "name": "paired box 6 PAX6-12a isoform",
                    "type": "synonym"
                },
                {
                    "name": "paired box 6 PAX6A-ASdel6 isoform",
                    "type": "synonym"
                },
                {
                    "name": "paired box 6 PAX6A-ASdel6-AS7 isoform",
                    "type": "synonym"
                },
                {
                    "name": "paired box 6 PAX6A-del6 isoform",
                    "type": "synonym"
                },
                {
                    "name": "paired box 6 PAX6B-ASdel6 isoform",
                    "type": "synonym"
                },
                {
                    "name": "paired box 6 PAX6D isoform",
                    "type": "synonym"
                },
                {
                    "name": "paired box homeotic gene-6",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-6 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAX6",
                    "type": "recommended"
                },
                {
                    "name": "AN1",
                    "type": "synonym"
                },
                {
                    "name": "AN2",
                    "type": "synonym"
                },
                {
                    "name": "AN",
                    "type": "synonym"
                },
                {
                    "name": "ASGD5",
                    "type": "synonym"
                },
                {
                    "name": "D11S812E",
                    "type": "synonym"
                },
                {
                    "name": "FVH1",
                    "type": "synonym"
                },
                {
                    "name": "MGDA",
                    "type": "synonym"
                },
                {
                    "name": "PAX6",
                    "type": "synonym"
                },
                {
                    "name": "WAGR",
                    "type": "synonym"
                }
            ],
            "record_id": "P26367-1",
            "evidence": [
                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16678-1",
            "uniprot_ac": "Q16678",
            "uniprot_id": "CP1B1_HUMAN",
            "refseq_ac": "NP_000095",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 1B1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.1",
                    "type": "synonym"
                },
                {
                    "name": "4.2.1.152",
                    "type": "synonym"
                },
                {
                    "name": "CYPIB1",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "aryl hydrocarbon hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 1B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 1, subfamily B, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)",
                    "type": "synonym"
                },
                {
                    "name": "dioxin-inducible cytochrome p450",
                    "type": "synonym"
                },
                {
                    "name": "flavoprotein-linked monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "microsomal monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "xenobiotic monooxygenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP1B1",
                    "type": "recommended"
                },
                {
                    "name": "ASGD6",
                    "type": "synonym"
                },
                {
                    "name": "CP1B",
                    "type": "synonym"
                },
                {
                    "name": "CYP1B1",
                    "type": "synonym"
                },
                {
                    "name": "CYPIB1",
                    "type": "synonym"
                },
                {
                    "name": "GLC3A",
                    "type": "synonym"
                },
                {
                    "name": "P4501B1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q16678-1",
            "evidence": [
                {
                    "id": "0060673",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060673"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060673"
}