{
    "disease_id": "DOID:0080016",
    "recommended_name": {
        "id": "DOID:0080016",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080016",
        "name": "spina bifida",
        "description": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0060326",
            "label": "myelomeningocele",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:1088",
            "label": "meningocele",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080016",
        "DOID:0060326",
        "DOID:1088"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080016",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080016",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0MTA1-1",
            "uniprot_ac": "A0MTA1",
            "uniprot_id": "APEX1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair nuclease APEX1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.11.2",
                    "type": "synonym"
                },
                {
                    "name": "3.1.21.-",
                    "type": "synonym"
                },
                {
                    "name": "AP endonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "APEN",
                    "type": "synonym"
                },
                {
                    "name": "APEX nuclease",
                    "type": "synonym"
                },
                {
                    "name": "Apurinic-apyrimidinic endonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "zAP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "apex1",
                    "type": "recommended"
                },
                {
                    "name": "APEN",
                    "type": "synonym"
                },
                {
                    "name": "apex1a",
                    "type": "synonym"
                },
                {
                    "name": "apex1b",
                    "type": "synonym"
                },
                {
                    "name": "hm:zehn1532",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-214j24.12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc13d11",
                    "type": "synonym"
                },
                {
                    "name": "zap1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66204",
                    "type": "synonym"
                }
            ],
            "record_id": "A0MTA1-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0V153-1",
            "uniprot_ac": "B0V153",
            "uniprot_id": "B0V153_DANRE",
            "refseq_ac": "NP_001121727",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylenetetrahydrofolate reductase (NADPH)",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.53",
                    "type": "synonym"
                },
                {
                    "name": "5,10-methylenetetrahydrofolate reductase (NADPH)",
                    "type": "synonym"
                },
                {
                    "name": "methylenetetrahydrofolate reductase (NADPH)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mthfr",
                    "type": "recommended"
                },
                {
                    "name": "fa92h12",
                    "type": "synonym"
                },
                {
                    "name": "im:7144504",
                    "type": "synonym"
                },
                {
                    "name": "mthfr",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-100a1.4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa92h12",
                    "type": "synonym"
                }
            ],
            "record_id": "B0V153-1",
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                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RIH2-1",
            "uniprot_ac": "Q5RIH2",
            "uniprot_id": "Q5RIH2_DANRE",
            "refseq_ac": "XP_695978",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-1-tetrahydrofolate synthase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.5",
                    "type": "synonym"
                },
                {
                    "name": "3.5.4.9",
                    "type": "synonym"
                },
                {
                    "name": "6.3.4.3",
                    "type": "synonym"
                },
                {
                    "name": "C-1-tetrahydrofolate synthase, cytoplasmic isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mthfd1a",
                    "type": "recommended"
                },
                {
                    "name": "mthfd1a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RIH2-1",
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                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1RE28-1",
            "uniprot_ac": "F1RE28",
            "uniprot_id": "F1RE28_DANRE",
            "refseq_ac": "NP_001373459",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine synthase reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.16.1.8",
                    "type": "synonym"
                },
                {
                    "name": "Aquacobalamin reductase",
                    "type": "synonym"
                },
                {
                    "name": "methionine synthase reductase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mtrr",
                    "type": "recommended"
                },
                {
                    "name": "mtrr",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RE28-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DC03-1",
            "uniprot_ac": "Q6DC03",
            "uniprot_id": "SZ12A_DANRE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polycomb protein suz12-A",
                    "type": "recommended"
                },
                {
                    "name": "SUZ12 polycomb repressive complex 2a subunit",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of zeste 12 protein homolog A",
                    "type": "synonym"
                },
                {
                    "name": "polycomb protein suz12-A",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of zeste 12 homolog a",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of zeste 12 homolog, like",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of zeste 12 protein homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "suz12a",
                    "type": "recommended"
                },
                {
                    "name": "suz12a",
                    "type": "synonym"
                },
                {
                    "name": "suz12l",
                    "type": "synonym"
                },
                {
                    "name": "suz12",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100863",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DC03-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0R1D5-1",
            "uniprot_ac": "B0R1D5",
            "uniprot_id": "SZ12B_DANRE",
            "refseq_ac": "NP_001076293",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polycomb protein suz12-B",
                    "type": "recommended"
                },
                {
                    "name": "SUZ12 polycomb repressive complex 2b subunit",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of zeste 12 protein homolog B",
                    "type": "synonym"
                },
                {
                    "name": "polycomb protein suz12-B",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of zeste 12 homolog b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "suz12b",
                    "type": "recommended"
                },
                {
                    "name": "fc31h10",
                    "type": "synonym"
                },
                {
                    "name": "im:7153578",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-10p5.2",
                    "type": "synonym"
                },
                {
                    "name": "suz12b",
                    "type": "synonym"
                },
                {
                    "name": "suz12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc31h10",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q803I4-1",
            "uniprot_ac": "Q803I4",
            "uniprot_id": "RING2_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": "E3 ubiquitin-protein ligase RING2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 2",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RING2",
                    "type": "synonym"
                },
                {
                    "name": "RING1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rnf2",
                    "type": "recommended"
                },
                {
                    "name": "fa19h05",
                    "type": "synonym"
                },
                {
                    "name": "ring1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa19h05",
                    "type": "synonym"
                },
                {
                    "name": "wz4556",
                    "type": "synonym"
                },
                {
                    "name": "wz4566",
                    "type": "synonym"
                }
            ],
            "record_id": "Q803I4-1",
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                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QAC4-1",
            "uniprot_ac": "F1QAC4",
            "uniprot_id": "F1QAC4_DANRE",
            "refseq_ac": "NP_840081",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GLI-Kruppel family member 1",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein GLI1",
                    "type": "synonym"
                },
                {
                    "name": "detour",
                    "type": "synonym"
                },
                {
                    "name": "dtr",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gli1",
                    "type": "recommended"
                },
                {
                    "name": "gli1",
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                }
            ],
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                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1R8E2-1",
            "uniprot_ac": "F1R8E2",
            "uniprot_id": "F1R8E2_DANRE",
            "refseq_ac": "NP_001292471",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein patched homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "leprechaun",
                    "type": "synonym"
                },
                {
                    "name": "patched 2",
                    "type": "synonym"
                },
                {
                    "name": "protein patched homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ptch1",
                    "type": "recommended"
                },
                {
                    "name": "lep",
                    "type": "synonym"
                },
                {
                    "name": "ptc1",
                    "type": "synonym"
                },
                {
                    "name": "ptc2",
                    "type": "synonym"
                },
                {
                    "name": "ptch1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R8E2-1",
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                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35465-1",
            "uniprot_ac": "O35465",
            "uniprot_id": "FKBP8_MOUSE",
            "refseq_ac": "NP_001104536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase FKBP8",
                    "type": "recommended"
                },
                {
                    "name": "38 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "38 kDa FKBP",
                    "type": "synonym"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 38",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 8",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-38",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-8",
                    "type": "synonym"
                },
                {
                    "name": "FKBPR38",
                    "type": "synonym"
                },
                {
                    "name": "PPIase FKBP8",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase",
                    "type": "synonym"
                },
                {
                    "name": "mFKBP38",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP8 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP8",
                    "type": "synonym"
                },
                {
                    "name": "rotamase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkbp8",
                    "type": "recommended"
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                {
                    "name": "38kDa",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-38",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-8",
                    "type": "synonym"
                },
                {
                    "name": "FKBPR38",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp38",
                    "type": "synonym"
                },
                {
                    "name": "Fkbp8",
                    "type": "synonym"
                },
                {
                    "name": "Sam11",
                    "type": "synonym"
                },
                {
                    "name": "mFKBP38",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28352-1",
            "uniprot_ac": "P28352",
            "uniprot_id": "APEX1_MOUSE",
            "refseq_ac": "NP_033817",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair nuclease/redox regulator APEX1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.11.2",
                    "type": "synonym"
                },
                {
                    "name": "3.1.21.-",
                    "type": "synonym"
                },
                {
                    "name": "AP endonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "APEN",
                    "type": "synonym"
                },
                {
                    "name": "APEX nuclease",
                    "type": "synonym"
                },
                {
                    "name": "Apurinic-apyrimidinic endonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair nuclease/redox regulator APEX1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-(apurinic or apyrimidinic site) endonuclease",
                    "type": "synonym"
                },
                {
                    "name": "DNA-(apurinic or apyrimidinic site) lyase",
                    "type": "synonym"
                },
                {
                    "name": "REF-1",
                    "type": "synonym"
                },
                {
                    "name": "Redox factor-1",
                    "type": "synonym"
                },
                {
                    "name": "redox factor-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apex1",
                    "type": "recommended"
                },
                {
                    "name": "APE",
                    "type": "synonym"
                },
                {
                    "name": "Apex1",
                    "type": "synonym"
                },
                {
                    "name": "Apex",
                    "type": "synonym"
                },
                {
                    "name": "Ape",
                    "type": "synonym"
                },
                {
                    "name": "HAP1",
                    "type": "synonym"
                },
                {
                    "name": "Ref-1",
                    "type": "synonym"
                },
                {
                    "name": "Ref1",
                    "type": "synonym"
                }
            ],
            "record_id": "P28352-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WU20-1",
            "uniprot_ac": "Q9WU20",
            "uniprot_id": "MTHR_MOUSE",
            "refseq_ac": "NP_034970",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methylenetetrahydrofolate reductase (NADPH)",
                    "type": "recommended"
                },
                {
                    "name": "1.5.1.53",
                    "type": "synonym"
                },
                {
                    "name": "5,10-methylenetetrahydrofolate reductase",
                    "type": "synonym"
                },
                {
                    "name": "methylenetetrahydrofolate reductase (NADPH) isoform b",
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            "protein_names": [
                {
                    "name": "Methylenetetrahydrofolate reductase-like catalytic domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7560-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG7560",
                    "type": "recommended"
                },
                {
                    "name": "BEST:GH18008",
                    "type": "synonym"
                },
                {
                    "name": "CG7560",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7560",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7560",
                    "type": "synonym"
                },
                {
                    "name": "gh18008",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTI0-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96553-1",
            "uniprot_ac": "O96553",
            "uniprot_id": "C1TC_DROME",
            "refseq_ac": "NP_001014614",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-1-tetrahydrofolate synthase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "C1-THF synthase",
                    "type": "synonym"
                },
                {
                    "name": "CG4067-PD",
                    "type": "synonym"
                },
                {
                    "name": "pug-PD",
                    "type": "synonym"
                },
                {
                    "name": "pugilist, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "pugilist",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pug",
                    "type": "recommended"
                },
                {
                    "name": "CG4067",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4067",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4067",
                    "type": "synonym"
                },
                {
                    "name": "MTHFD",
                    "type": "synonym"
                },
                {
                    "name": "Pug",
                    "type": "synonym"
                },
                {
                    "name": "bs14h02.y1",
                    "type": "synonym"
                },
                {
                    "name": "pugD",
                    "type": "synonym"
                },
                {
                    "name": "pug",
                    "type": "synonym"
                }
            ],
            "record_id": "O96553-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEV2-1",
            "uniprot_ac": "Q9VEV2",
            "uniprot_id": "Q9VEV2_DROME",
            "refseq_ac": "NP_001262637",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Methionine synthase reductase",
                    "type": "recommended"
                },
                {
                    "name": "1.16.1.8",
                    "type": "synonym"
                },
                {
                    "name": "CG14882-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:SD10961",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:SD10961",
                    "type": "synonym"
                },
                {
                    "name": "CG14882",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14882",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14882",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEV2-1",
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                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJ32-1",
            "uniprot_ac": "Q9VJ32",
            "uniprot_id": "Q9VJ32_DROME",
            "refseq_ac": "NP_001286071",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hcy-binding domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG10621-PB",
                    "type": "synonym"
                },
                {
                    "name": "selenocysteine methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG10621",
                    "type": "recommended"
                },
                {
                    "name": "BEST:LD26123",
                    "type": "synonym"
                },
                {
                    "name": "CG10621",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10621",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10621",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJ32-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJ31-1",
            "uniprot_ac": "Q9VJ31",
            "uniprot_id": "BHMT_DROME",
            "refseq_ac": "NP_001286073",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Betaine-homocysteine S-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.5",
                    "type": "synonym"
                },
                {
                    "name": "Betaine-homocysteine S-methyltransferase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Bhmt-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG10623-PB",
                    "type": "synonym"
                },
                {
                    "name": "betaine-homocysteine methyl-transferase",
                    "type": "synonym"
                },
                {
                    "name": "selenocysteine methyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bhmt",
                    "type": "recommended"
                },
                {
                    "name": "Bhmt",
                    "type": "synonym"
                },
                {
                    "name": "CG10623",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10623",
                    "type": "synonym"
                },
                {
                    "name": "Met-s",
                    "type": "synonym"
                },
                {
                    "name": "dBHMT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJ31-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19538-1",
            "uniprot_ac": "P19538",
            "uniprot_id": "CI_DROME",
            "refseq_ac": "NP_524617",
            "glycoprotein": "no",
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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": "Transcriptional activator cubitus interruptus",
                    "type": "recommended"
                },
                {
                    "name": "CG2125-PA",
                    "type": "synonym"
                },
                {
                    "name": "Transcriptional activator ci",
                    "type": "synonym"
                },
                {
                    "name": "cell",
                    "type": "synonym"
                },
                {
                    "name": "ci C-terminally truncated form",
                    "type": "synonym"
                },
                {
                    "name": "ci form of 155 kDa",
                    "type": "synonym"
                },
                {
                    "name": "ci form of 75 kDa",
                    "type": "synonym"
                },
                {
                    "name": "ci full-length protein",
                    "type": "synonym"
                },
                {
                    "name": "ci-155",
                    "type": "synonym"
                },
                {
                    "name": "ci-75",
                    "type": "synonym"
                },
                {
                    "name": "ci-PA",
                    "type": "synonym"
                },
                {
                    "name": "ciFL",
                    "type": "synonym"
                },
                {
                    "name": "cubitis interruptus",
                    "type": "synonym"
                },
                {
                    "name": "cubitus interruptus, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "cubitus interruptus",
                    "type": "synonym"
                },
                {
                    "name": "cubitus interuptus",
                    "type": "synonym"
                },
                {
                    "name": "cubitus-interruptus-Dominant",
                    "type": "synonym"
                },
                {
                    "name": "cubitus",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ci",
                    "type": "recommended"
                },
                {
                    "name": "CG2125",
                    "type": "synonym"
                },
                {
                    "name": "CID",
                    "type": "synonym"
                },
                {
                    "name": "CI",
                    "type": "synonym"
                },
                {
                    "name": "Ce",
                    "type": "synonym"
                },
                {
                    "name": "Ci/GLI",
                    "type": "synonym"
                },
                {
                    "name": "Ci/Gli",
                    "type": "synonym"
                },
                {
                    "name": "Ci155",
                    "type": "synonym"
                },
                {
                    "name": "CiD",
                    "type": "synonym"
                },
                {
                    "name": "Ci[D]",
                    "type": "synonym"
                },
                {
                    "name": "Ci",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2125",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2125",
                    "type": "synonym"
                },
                {
                    "name": "GLI",
                    "type": "synonym"
                },
                {
                    "name": "Gli",
                    "type": "synonym"
                },
                {
                    "name": "Siah",
                    "type": "synonym"
                },
                {
                    "name": "ci-D",
                    "type": "synonym"
                },
                {
                    "name": "ci155",
                    "type": "synonym"
                },
                {
                    "name": "ciA",
                    "type": "synonym"
                },
                {
                    "name": "ciD",
                    "type": "synonym"
                },
                {
                    "name": "ciR",
                    "type": "synonym"
                },
                {
                    "name": "ci[D]",
                    "type": "synonym"
                },
                {
                    "name": "ci",
                    "type": "synonym"
                },
                {
                    "name": "d Ci",
                    "type": "synonym"
                },
                {
                    "name": "l(4)102ABc",
                    "type": "synonym"
                },
                {
                    "name": "l(4)13",
                    "type": "synonym"
                },
                {
                    "name": "l(4)17",
                    "type": "synonym"
                }
            ],
            "record_id": "P19538-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39768-1",
            "uniprot_ac": "P39768",
            "uniprot_id": "OPA_DROME",
            "refseq_ac": "NP_524228",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Pair-rule protein odd-paired",
                    "type": "recommended"
                },
                {
                    "name": "CG1133-PA",
                    "type": "synonym"
                },
                {
                    "name": "GLI-Kr zinc finger pair-rule protein",
                    "type": "synonym"
                },
                {
                    "name": "Odd paired",
                    "type": "synonym"
                },
                {
                    "name": "Odd-paired",
                    "type": "synonym"
                },
                {
                    "name": "odd paired, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "opa-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "opa",
                    "type": "recommended"
                },
                {
                    "name": "CG1133",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1133",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1133",
                    "type": "synonym"
                },
                {
                    "name": "Opa",
                    "type": "synonym"
                },
                {
                    "name": "opa",
                    "type": "synonym"
                }
            ],
            "record_id": "P39768-1",
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                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NJG9-1",
            "uniprot_ac": "Q9NJG9",
            "uniprot_id": "SUZ12_DROME",
            "refseq_ac": "NP_652059",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polycomb protein Su(z)12",
                    "type": "recommended"
                },
                {
                    "name": "CG8013-PA",
                    "type": "synonym"
                },
                {
                    "name": "Su(z)12, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Su(z)12-PA",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor 12 of zeste protein",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor-of-zeste-12",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of zeste 12",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of zeste[12]",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Su(z)12",
                    "type": "recommended"
                },
                {
                    "name": "CG8013",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8013",
                    "type": "synonym"
                },
                {
                    "name": "SU(Z)12",
                    "type": "synonym"
                },
                {
                    "name": "SUZ12",
                    "type": "synonym"
                },
                {
                    "name": "Su(Z)12",
                    "type": "synonym"
                },
                {
                    "name": "Su(z)12",
                    "type": "synonym"
                },
                {
                    "name": "Su(z)[12]",
                    "type": "synonym"
                },
                {
                    "name": "Su(z)",
                    "type": "synonym"
                },
                {
                    "name": "Suz(12)",
                    "type": "synonym"
                },
                {
                    "name": "Suz12",
                    "type": "synonym"
                },
                {
                    "name": "l(3)76BDo",
                    "type": "synonym"
                },
                {
                    "name": "su(z)12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NJG9-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VB08-1",
            "uniprot_ac": "Q9VB08",
            "uniprot_id": "RING1_DROME",
            "refseq_ac": "NP_477509",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RING1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "CG5595-PA",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase RING1",
                    "type": "synonym"
                },
                {
                    "name": "SCE/dRING",
                    "type": "synonym"
                },
                {
                    "name": "Sce-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sex comb extra protein",
                    "type": "synonym"
                },
                {
                    "name": "Sex comb extra",
                    "type": "synonym"
                },
                {
                    "name": "Sex combs extra",
                    "type": "synonym"
                },
                {
                    "name": "dRING protein",
                    "type": "synonym"
                },
                {
                    "name": "dRING1",
                    "type": "synonym"
                },
                {
                    "name": "ring",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sce",
                    "type": "recommended"
                },
                {
                    "name": "CG5595",
                    "type": "synonym"
                },
                {
                    "name": "DRING",
                    "type": "synonym"
                },
                {
                    "name": "Ding",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5595",
                    "type": "synonym"
                },
                {
                    "name": "Dring",
                    "type": "synonym"
                },
                {
                    "name": "RING/Sce",
                    "type": "synonym"
                },
                {
                    "name": "RING1",
                    "type": "synonym"
                },
                {
                    "name": "RING",
                    "type": "synonym"
                },
                {
                    "name": "Ring/Sce",
                    "type": "synonym"
                },
                {
                    "name": "Ring",
                    "type": "synonym"
                },
                {
                    "name": "Rnf2",
                    "type": "synonym"
                },
                {
                    "name": "SCE",
                    "type": "synonym"
                },
                {
                    "name": "Sce/dRing",
                    "type": "synonym"
                },
                {
                    "name": "Sce",
                    "type": "synonym"
                },
                {
                    "name": "See/dRing",
                    "type": "synonym"
                },
                {
                    "name": "dRING1",
                    "type": "synonym"
                },
                {
                    "name": "dRING",
                    "type": "synonym"
                },
                {
                    "name": "dRNIG",
                    "type": "synonym"
                },
                {
                    "name": "dRing1",
                    "type": "synonym"
                },
                {
                    "name": "dRing",
                    "type": "synonym"
                },
                {
                    "name": "dring",
                    "type": "synonym"
                },
                {
                    "name": "sce",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VB08-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18502-1",
            "uniprot_ac": "P18502",
            "uniprot_id": "PTC_DROME",
            "refseq_ac": "NP_523661",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein patched",
                    "type": "recommended"
                },
                {
                    "name": "CG2411-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hedgehog receptor ptc",
                    "type": "synonym"
                },
                {
                    "name": "compaction defects 4",
                    "type": "synonym"
                },
                {
                    "name": "confused",
                    "type": "synonym"
                },
                {
                    "name": "patched",
                    "type": "synonym"
                },
                {
                    "name": "patch",
                    "type": "synonym"
                },
                {
                    "name": "ptc-PA",
                    "type": "synonym"
                },
                {
                    "name": "rubberneck",
                    "type": "synonym"
                },
                {
                    "name": "tufted",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ptc",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH36596",
                    "type": "synonym"
                },
                {
                    "name": "CG2411",
                    "type": "synonym"
                },
                {
                    "name": "Conf",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2411",
                    "type": "synonym"
                },
                {
                    "name": "PTC",
                    "type": "synonym"
                },
                {
                    "name": "Patched",
                    "type": "synonym"
                },
                {
                    "name": "Ptc_Dm",
                    "type": "synonym"
                },
                {
                    "name": "Ptch",
                    "type": "synonym"
                },
                {
                    "name": "Ptc",
                    "type": "synonym"
                },
                {
                    "name": "com4",
                    "type": "synonym"
                },
                {
                    "name": "dPtc",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k02507",
                    "type": "synonym"
                },
                {
                    "name": "pat",
                    "type": "synonym"
                },
                {
                    "name": "ptch",
                    "type": "synonym"
                },
                {
                    "name": "ptc",
                    "type": "synonym"
                },
                {
                    "name": "rubr",
                    "type": "synonym"
                },
                {
                    "name": "tuf",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q13635-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Protein patched homolog 1",
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                },
                {
                    "name": "PTC1",
                    "type": "synonym"
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                {
                    "name": "PTC",
                    "type": "synonym"
                },
                {
                    "name": "protein patched homolog 1 isoform L",
                    "type": "synonym"
                },
                {
                    "name": "protein patched homolog 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "PTCH1",
                    "type": "recommended"
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                {
                    "name": "BCNS1",
                    "type": "synonym"
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                {
                    "name": "BCNS",
                    "type": "synonym"
                },
                {
                    "name": "NBCCS",
                    "type": "synonym"
                },
                {
                    "name": "PTC1",
                    "type": "synonym"
                },
                {
                    "name": "PTCH1",
                    "type": "synonym"
                },
                {
                    "name": "PTCH",
                    "type": "synonym"
                },
                {
                    "name": "PTC",
                    "type": "synonym"
                },
                {
                    "name": "SLC65B1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08151-1",
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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": "Transcription activator GLI1",
                    "type": "recommended"
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                {
                    "name": "GLI-Kruppel family member GLI1",
                    "type": "synonym"
                },
                {
                    "name": "Glioma-associated oncogene",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene GLI",
                    "type": "synonym"
                },
                {
                    "name": "glioma-associated oncogene 1",
                    "type": "synonym"
                },
                {
                    "name": "glioma-associated oncogene homolog 1 (zinc finger protein)",
                    "type": "synonym"
                },
                {
                    "name": "oncogene GLI",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI1 isoform 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "GLI1",
                    "type": "recommended"
                },
                {
                    "name": "GLI1",
                    "type": "synonym"
                },
                {
                    "name": "GLI",
                    "type": "synonym"
                },
                {
                    "name": "PAPA8",
                    "type": "synonym"
                },
                {
                    "name": "PPD1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10070-5",
            "uniprot_ac": "P10070",
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            "refseq_ac": "NP_005261",
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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": "Transcription activator GLI2",
                    "type": "recommended"
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                {
                    "name": "GLI family zinc finger protein 2",
                    "type": "synonym"
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                {
                    "name": "GLI-Kruppel family member GLI2",
                    "type": "synonym"
                },
                {
                    "name": "Tax helper protein",
                    "type": "synonym"
                },
                {
                    "name": "glioma-associated oncogene family zinc finger 2",
                    "type": "synonym"
                },
                {
                    "name": "oncogene GLI2",
                    "type": "synonym"
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                {
                    "name": "tax helper protein 1",
                    "type": "synonym"
                },
                {
                    "name": "tax helper protein 2",
                    "type": "synonym"
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                {
                    "name": "tax-responsive element-2 holding protein",
                    "type": "synonym"
                },
                {
                    "name": "tax-responsive element-25-bp sequence binding protein",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLI2 isoform 1",
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                },
                {
                    "name": "zinc finger protein GLI2",
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                }
            ],
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                    "name": "GLI2",
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                {
                    "name": "CJS",
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                    "name": "GLI2",
                    "type": "synonym"
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                {
                    "name": "HPE9",
                    "type": "synonym"
                },
                {
                    "name": "PHS2",
                    "type": "synonym"
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                {
                    "name": "THP1",
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                {
                    "name": "THP2",
                    "type": "synonym"
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                {
                    "name": "THP",
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                }
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                    "id": "0080016",
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            ]
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                    "name": "Homo sapiens",
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                    "name": "ChET 9 protein",
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                {
                    "name": "Chromatin precipitated E2F target 9 protein",
                    "type": "synonym"
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                {
                    "name": "Joined to JAZF1 protein",
                    "type": "synonym"
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                {
                    "name": "Suppressor of zeste 12 protein homolog",
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                {
                    "name": "chET 9 protein",
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                    "name": "chromatin precipitated E2F target 9 protein",
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                    "name": "joined to JAZF1 protein",
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                {
                    "name": "polycomb protein SUZ12 isoform 1",
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                    "name": "polycomb protein SUZ12",
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                    "name": "SUZ12",
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                    "name": "CHET9",
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                    "name": "IMMAS",
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                    "name": "JJAZ1",
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                {
                    "name": "KIAA0160",
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                    "name": "SUZ12",
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                    "id": "0080016",
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                    "name": "Zinc finger protein 203",
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                {
                    "name": "Zinc finger protein of the cerebellum 3",
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                {
                    "name": "zinc finger protein 203",
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                    "name": "zinc finger protein of the cerebellum 3",
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                    "name": "HTX",
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                    "name": "VACTERLX",
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                    "name": "ZNF203",
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                {
                    "name": "E3 ubiquitin-protein ligase RING2",
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                {
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                {
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                    "name": "RING finger protein BAP-1",
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                {
                    "name": "BAP1",
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                    "name": "DING",
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                    "name": "HIPI3",
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                    "name": "LUSYAM",
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                    "id": "0080016",
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                {
                    "name": "FK506 binding protein 8, 38kDa",
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                {
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                {
                    "name": "FKBP-38",
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                    "name": "FKBP-8",
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                {
                    "name": "FKBPR38",
                    "type": "synonym"
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                {
                    "name": "PPIase FKBP8",
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                {
                    "name": "Rotamase",
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                {
                    "name": "hFKBP38",
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                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP8 isoform 2",
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                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP8",
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                    "name": "FKBP8",
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                    "id": "0080016",
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                    "name": "Methionine synthase",
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                    "name": "5-methyltetrahydrofolate--homocysteine methyltransferase",
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                    "name": "5-methyltetrahydrofolate-homocysteine methyltransferase 1",
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                {
                    "name": "Cobalamin-dependent methionine synthase",
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                {
                    "name": "MS",
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                {
                    "name": "Vitamin-B12 dependent methionine synthase",
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                {
                    "name": "cobalamin-dependent methionine synthase",
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                {
                    "name": "methionine synthase isoform 1",
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                    "name": "vitamin-B12 dependent methionine synthase",
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                    "name": "MTR",
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                    "name": "HMAG",
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                    "name": "MS",
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                {
                    "name": "MTR",
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                    "id": "0080016",
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                    "name": "1.5.1.53",
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                {
                    "name": "5,10-methylenetetrahydrofolate reductase (NADPH)",
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                {
                    "name": "methylenetetrahydrofolate reductase (NAD(P)H)",
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                    "reference_species": "Homo sapiens [9606]"
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            ],
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                {
                    "name": "Methionine synthase reductase",
                    "type": "recommended"
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                    "name": "1.16.1.8",
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                {
                    "name": "AqCbl reductase",
                    "type": "synonym"
                },
                {
                    "name": "Aquacobalamin reductase",
                    "type": "synonym"
                },
                {
                    "name": "MSR",
                    "type": "synonym"
                },
                {
                    "name": "[methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing)",
                    "type": "synonym"
                },
                {
                    "name": "aqCbl reductase",
                    "type": "synonym"
                },
                {
                    "name": "aquacobalamin reductase",
                    "type": "synonym"
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                {
                    "name": "methionine synthase reductase, mitochondrial",
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                {
                    "name": "methionine synthase reductase",
                    "type": "synonym"
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                    "name": "MTRR",
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                    "name": "MSR",
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                {
                    "name": "MTRR",
                    "type": "synonym"
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                    "name": "cblE",
                    "type": "synonym"
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                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11586-1",
            "uniprot_ac": "P11586",
            "uniprot_id": "C1TC_HUMAN",
            "refseq_ac": "NP_005947",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-1-tetrahydrofolate synthase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "C-1-tetrahydrofolate synthase, cytoplasmic isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "C-1-tetrahydrofolate synthase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "C1-THF synthase",
                    "type": "synonym"
                },
                {
                    "name": "Epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic C-1-tetrahydrofolate synthase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTHFD1",
                    "type": "recommended"
                },
                {
                    "name": "CIMAH",
                    "type": "synonym"
                },
                {
                    "name": "MTHFC",
                    "type": "synonym"
                },
                {
                    "name": "MTHFD1",
                    "type": "synonym"
                },
                {
                    "name": "MTHFD",
                    "type": "synonym"
                }
            ],
            "record_id": "P11586-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27695-1",
            "uniprot_ac": "P27695",
            "uniprot_id": "APEX1_HUMAN",
            "refseq_ac": "NP_001231178",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA repair nuclease/redox regulator APEX1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.11.2",
                    "type": "synonym"
                },
                {
                    "name": "3.1.21.-",
                    "type": "synonym"
                },
                {
                    "name": "AP endonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "AP endonuclease class I",
                    "type": "synonym"
                },
                {
                    "name": "AP lyase",
                    "type": "synonym"
                },
                {
                    "name": "APE-1",
                    "type": "synonym"
                },
                {
                    "name": "APEN",
                    "type": "synonym"
                },
                {
                    "name": "APEX nuclease (multifunctional DNA repair enzyme) 1",
                    "type": "synonym"
                },
                {
                    "name": "APEX nuclease",
                    "type": "synonym"
                },
                {
                    "name": "Apurinic-apyrimidinic endonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA repair nuclease/redox regulator APEX1",
                    "type": "synonym"
                },
                {
                    "name": "DNA-(apurinic or apyrimidinic site) endonuclease",
                    "type": "synonym"
                },
                {
                    "name": "DNA-(apurinic or apyrimidinic site) lyase",
                    "type": "synonym"
                },
                {
                    "name": "REF-1",
                    "type": "synonym"
                },
                {
                    "name": "Redox factor-1",
                    "type": "synonym"
                },
                {
                    "name": "apurinic-apyrimidinic endonuclease 1",
                    "type": "synonym"
                },
                {
                    "name": "apurinic/apyrimidinic (abasic) endonuclease",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease (apurinic or apyrimidinic)",
                    "type": "synonym"
                },
                {
                    "name": "protein REF-1",
                    "type": "synonym"
                },
                {
                    "name": "redox factor-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APEX1",
                    "type": "recommended"
                },
                {
                    "name": "APE1",
                    "type": "synonym"
                },
                {
                    "name": "APEN",
                    "type": "synonym"
                },
                {
                    "name": "APEX1",
                    "type": "synonym"
                },
                {
                    "name": "APEX",
                    "type": "synonym"
                },
                {
                    "name": "APE",
                    "type": "synonym"
                },
                {
                    "name": "APX",
                    "type": "synonym"
                },
                {
                    "name": "HAP1",
                    "type": "synonym"
                },
                {
                    "name": "REF1",
                    "type": "synonym"
                }
            ],
            "record_id": "P27695-1",
            "evidence": [
                {
                    "id": "0080016",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080016"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080016"
}