{
    "disease_id": "DOID:0060868",
    "recommended_name": {
        "id": "DOID:0060868",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060868",
        "name": "leukoencephalopathy with vanishing white matter",
        "description": "A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood."
    },
    "synonyms": [
        {
            "id": "DOID:0060868",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060868",
            "name": "CACH",
            "description": ""
        },
        {
            "id": "DOID:0060868",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060868",
            "name": "childhood ataxia with central nervous system hypomyelination",
            "description": ""
        },
        {
            "id": "DOID:0060868",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060868",
            "name": "vanishing white matter leukodystrophy",
            "description": ""
        },
        {
            "id": "DOID:0060868",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060868",
            "name": "CACH/VWM",
            "description": ""
        },
        {
            "id": "MONDO:0020507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020507",
            "name": "leukoencephalopathy with vanishing white matter 1",
            "description": "Any leukoencephalopathy with vanishing white matter in which the cause of the disease is a variation in the EIF2B1 gene."
        },
        {
            "id": "MONDO:0020507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020507",
            "name": "CACH",
            "description": ""
        },
        {
            "id": "MONDO:0020507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020507",
            "name": "childhood ataxia with central nervous system hypomyelinization",
            "description": ""
        },
        {
            "id": "MONDO:0020507",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020507",
            "name": "vanishing white matter leukodystrophy",
            "description": ""
        },
        {
            "id": "MIM:603896",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603896",
            "name": "Leukoencephalopathy with vanishing white matter 1",
            "description": "Leukoencephalopathy with vanishing white matter 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070367",
            "label": "leukoencephalopathy with vanishing white matter 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070371",
            "label": "leukoencephalopathy with vanishing white matter 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070372",
            "label": "leukoencephalopathy with vanishing white matter 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070373",
            "label": "leukoencephalopathy with vanishing white matter 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070374",
            "label": "leukoencephalopathy with vanishing white matter 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060868",
        "DOID:0070367",
        "DOID:0070374",
        "DOID:0070372",
        "DOID:0070373",
        "DOID:0070371"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060868",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060868",
            "categories": []
        },
        {
            "id": "MONDO:0020507",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020507",
            "categories": []
        },
        {
            "id": "MIM:603896",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603896",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4ILD9-1",
            "uniprot_ac": "A0A0R4ILD9",
            "uniprot_id": "A0A0R4ILD9_DANRE",
            "refseq_ac": "XP_009300311",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit alpha isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eif2b1",
                    "type": "recommended"
                },
                {
                    "name": "eif2b1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:86660",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4ILD9-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2B7A1-1",
            "uniprot_ac": "A0A8M2B7A1",
            "uniprot_id": "A0A8M2B7A1_DANRE",
            "refseq_ac": "XP_005160517",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eif2b4",
                    "type": "recommended"
                },
                {
                    "name": "eif2b4",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-101l18.4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb54a09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110790",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B7A1-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CHW4-1",
            "uniprot_ac": "Q8CHW4",
            "uniprot_id": "EI2BE_MOUSE",
            "refseq_ac": "NP_758469",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit epsilon isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b5",
                    "type": "recommended"
                },
                {
                    "name": "Eif2b5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CHW4-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61749-1",
            "uniprot_ac": "Q61749",
            "uniprot_id": "EI2BD_MOUSE",
            "refseq_ac": "NP_001120827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b4",
                    "type": "recommended"
                },
                {
                    "name": "Eif2b4",
                    "type": "synonym"
                },
                {
                    "name": "Eif2bd",
                    "type": "synonym"
                },
                {
                    "name": "Eif2b",
                    "type": "synonym"
                },
                {
                    "name": "Jgr1a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61749-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99LD9-1",
            "uniprot_ac": "Q99LD9",
            "uniprot_id": "EI2BB_MOUSE",
            "refseq_ac": "NP_663420",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit beta",
                    "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": "EIF2B",
                    "type": "synonym"
                },
                {
                    "name": "Eif2b2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99LD9-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99LC8-1",
            "uniprot_ac": "Q99LC8",
            "uniprot_id": "EI2BA_MOUSE",
            "refseq_ac": "NP_663346",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 1 (alpha)",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kDa)",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b1",
                    "type": "recommended"
                },
                {
                    "name": "D5Ertd406e",
                    "type": "synonym"
                },
                {
                    "name": "EIF2BA",
                    "type": "synonym"
                },
                {
                    "name": "Eif2b1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99LC8-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B1AUN2-1",
            "uniprot_ac": "B1AUN2",
            "uniprot_id": "B1AUN2_MOUSE",
            "refseq_ac": "NP_001104747",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit gamma isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b3",
                    "type": "recommended"
                },
                {
                    "name": "1190002P15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Eif2b3",
                    "type": "synonym"
                }
            ],
            "record_id": "B1AUN2-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14232-1",
            "uniprot_ac": "Q14232",
            "uniprot_id": "EI2BA_HUMAN",
            "refseq_ac": "NP_001405",
            "glycoprotein": "yes",
            "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 alpha",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2B1",
                    "type": "recommended"
                },
                {
                    "name": "EIF2B1",
                    "type": "synonym"
                },
                {
                    "name": "EIF2BA",
                    "type": "synonym"
                },
                {
                    "name": "EIF2Balpha",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B",
                    "type": "synonym"
                },
                {
                    "name": "VWM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14232-1",
            "evidence": [
                {
                    "id": "603896",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/603896"
                },
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32502-1",
            "uniprot_ac": "P32502",
            "uniprot_id": "EI2BB_YEAST",
            "refseq_ac": "NP_013394",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "GCD complex subunit GCD7",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor subunit GCD7",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCD7",
                    "type": "recommended"
                },
                {
                    "name": "GCD7",
                    "type": "synonym"
                },
                {
                    "name": "L8003.17",
                    "type": "synonym"
                },
                {
                    "name": "TIF222",
                    "type": "synonym"
                }
            ],
            "record_id": "P32502-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14741-1",
            "uniprot_ac": "P14741",
            "uniprot_id": "EI2BA_YEAST",
            "refseq_ac": "NP_012951",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "GCD complex subunit GCN3",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor subunit GCN3",
                    "type": "synonym"
                },
                {
                    "name": "Translational activator GCN3",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCN3",
                    "type": "recommended"
                },
                {
                    "name": "AAS2",
                    "type": "synonym"
                },
                {
                    "name": "GCN3",
                    "type": "synonym"
                },
                {
                    "name": "TIF221",
                    "type": "synonym"
                }
            ],
            "record_id": "P14741-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32501-1",
            "uniprot_ac": "P32501",
            "uniprot_id": "EI2BE_YEAST",
            "refseq_ac": "NP_010497",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "GCD complex subunit GCD6",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor subunit GCD6",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B catalytic subunit epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCD6",
                    "type": "recommended"
                },
                {
                    "name": "GCD6",
                    "type": "synonym"
                },
                {
                    "name": "TIF225",
                    "type": "synonym"
                },
                {
                    "name": "YD8142.12",
                    "type": "synonym"
                },
                {
                    "name": "YD8142B.03",
                    "type": "synonym"
                }
            ],
            "record_id": "P32501-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12754-1",
            "uniprot_ac": "P12754",
            "uniprot_id": "EI2BD_YEAST",
            "refseq_ac": "NP_011597",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "GCD complex subunit GCD2",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor subunit GCD2",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCD2",
                    "type": "recommended"
                },
                {
                    "name": "GCD12",
                    "type": "synonym"
                },
                {
                    "name": "GCD2",
                    "type": "synonym"
                },
                {
                    "name": "TIF224",
                    "type": "synonym"
                }
            ],
            "record_id": "P12754-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09032-1",
            "uniprot_ac": "P09032",
            "uniprot_id": "EI2BG_YEAST",
            "refseq_ac": "NP_014903",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "GCD complex subunit GCD1",
                    "type": "synonym"
                },
                {
                    "name": "Guanine nucleotide exchange factor subunit GCD1",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCD1",
                    "type": "recommended"
                },
                {
                    "name": "GCD1",
                    "type": "synonym"
                },
                {
                    "name": "TIF223",
                    "type": "synonym"
                },
                {
                    "name": "TRA3",
                    "type": "synonym"
                }
            ],
            "record_id": "P09032-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64350-1",
            "uniprot_ac": "Q64350",
            "uniprot_id": "EI2BE_RAT",
            "refseq_ac": "NP_620221",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit 5 epsilon",
                    "type": "synonym"
                },
                {
                    "name": "initiation factor eIF-2Be",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b5",
                    "type": "recommended"
                },
                {
                    "name": "Eif2b5",
                    "type": "synonym"
                },
                {
                    "name": "Eif2be",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64350-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62818-1",
            "uniprot_ac": "Q62818",
            "uniprot_id": "EI2BB_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b2",
                    "type": "recommended"
                },
                {
                    "name": "Eif2bb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62818-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64270-1",
            "uniprot_ac": "Q64270",
            "uniprot_id": "EI2BA_RAT",
            "refseq_ac": "NP_742026",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "GTP-exchange protein",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2Balpha",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit 1 alpha",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b1",
                    "type": "recommended"
                },
                {
                    "name": "Eif2b1",
                    "type": "synonym"
                },
                {
                    "name": "Eif2ba",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64270-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70541-1",
            "uniprot_ac": "P70541",
            "uniprot_id": "EI2BG_RAT",
            "refseq_ac": "NP_598293",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 3 gamma",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b3",
                    "type": "recommended"
                },
                {
                    "name": "Eif2b3",
                    "type": "synonym"
                },
                {
                    "name": "Eif2bg",
                    "type": "synonym"
                }
            ],
            "record_id": "P70541-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63186-1",
            "uniprot_ac": "Q63186",
            "uniprot_id": "EI2BD_RAT",
            "refseq_ac": "NP_446402",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 4 delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2b4",
                    "type": "recommended"
                },
                {
                    "name": "Eif2b4",
                    "type": "synonym"
                },
                {
                    "name": "Eif2bd",
                    "type": "synonym"
                },
                {
                    "name": "Eif2b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63186-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63016-1",
            "uniprot_ac": "P63016",
            "uniprot_id": "PAX6_RAT",
            "refseq_ac": "NP_037133",
            "glycoprotein": "yes",
            "species": [
                {
                    "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",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W541-1",
            "uniprot_ac": "Q9W541",
            "uniprot_id": "Q9W541_DROME",
            "refseq_ac": "NP_569961",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit epsilon",
                    "type": "recommended"
                },
                {
                    "name": "CG3806-PA",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bepsilon-PA",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit epsilon, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eIF2Bepsilon",
                    "type": "recommended"
                },
                {
                    "name": "CG3806",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3806",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3806",
                    "type": "synonym"
                },
                {
                    "name": "EG:86E4.1",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2bepsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bepsilon",
                    "type": "synonym"
                },
                {
                    "name": "elf2B-epsilon",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W541-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O76863-1",
            "uniprot_ac": "O76863",
            "uniprot_id": "O76863_DROME",
            "refseq_ac": "NP_570020",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "CG2677-PA",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bbeta-PA",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eIF2Bbeta",
                    "type": "recommended"
                },
                {
                    "name": "CG2677",
                    "type": "synonym"
                },
                {
                    "name": "DMC100G10.3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2677",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2677",
                    "type": "synonym"
                },
                {
                    "name": "EG:100G10.3",
                    "type": "synonym"
                },
                {
                    "name": "EIF2b",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-beta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-b",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bbeta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2beta",
                    "type": "synonym"
                }
            ],
            "record_id": "O76863-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAD4-1",
            "uniprot_ac": "Q9VAD4",
            "uniprot_id": "Q9VAD4_DROME",
            "refseq_ac": "NP_651752",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "CG7883-PA",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-alpha",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Balpha-PA",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eIF2Balpha",
                    "type": "recommended"
                },
                {
                    "name": "CG7883",
                    "type": "synonym"
                },
                {
                    "name": "DeIF2Balpha",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7883",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7883",
                    "type": "synonym"
                },
                {
                    "name": "Eif2b",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-alpha",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Balpha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAD4-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZA22-1",
            "uniprot_ac": "A1ZA22",
            "uniprot_id": "A1ZA22_DROME",
            "refseq_ac": "NP_611046",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "CG8190-PA",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-gamma",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bgamma-PA",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eIF2Bgamma",
                    "type": "recommended"
                },
                {
                    "name": "CG8190",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8190",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8190",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-gamma",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bgamma",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZA22-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1Q8-1",
            "uniprot_ac": "Q9W1Q8",
            "uniprot_id": "Q9W1Q8_DROME",
            "refseq_ac": "NP_611790",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Translation initiation factor eIF2B subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "CG10315-PA",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-delta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bdelta-PA",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit delta, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eIF2Bdelta",
                    "type": "recommended"
                },
                {
                    "name": "CG10315",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10315",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10315",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B-delta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2Bdelta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1Q8-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "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": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13144-1",
            "uniprot_ac": "Q13144",
            "uniprot_id": "EI2BE_HUMAN",
            "refseq_ac": "NP_003898",
            "glycoprotein": "yes",
            "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 epsilon",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit epsilon",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit epsilon",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2B5",
                    "type": "recommended"
                },
                {
                    "name": "CACH",
                    "type": "synonym"
                },
                {
                    "name": "CLE",
                    "type": "synonym"
                },
                {
                    "name": "EIF-2B",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B5",
                    "type": "synonym"
                },
                {
                    "name": "EIF2BE",
                    "type": "synonym"
                },
                {
                    "name": "EIF2Bepsilon",
                    "type": "synonym"
                },
                {
                    "name": "LVWM",
                    "type": "synonym"
                },
                {
                    "name": "VWM5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13144-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NR50-1",
            "uniprot_ac": "Q9NR50",
            "uniprot_id": "EI2BG_HUMAN",
            "refseq_ac": "NP_001160060",
            "glycoprotein": "yes",
            "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 gamma",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit gamma isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2B3",
                    "type": "recommended"
                },
                {
                    "name": "EIF-2B",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B3",
                    "type": "synonym"
                },
                {
                    "name": "EIF2Bgamma",
                    "type": "synonym"
                },
                {
                    "name": "VWM3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NR50-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UI10-1",
            "uniprot_ac": "Q9UI10",
            "uniprot_id": "EI2BD_HUMAN",
            "refseq_ac": "NP_001029288",
            "glycoprotein": "yes",
            "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 delta",
                    "type": "recommended"
                },
                {
                    "name": "eIF-2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "eIF2B GDP-GTP exchange factor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B subunit 4 delta",
                    "type": "synonym"
                },
                {
                    "name": "eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2B subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF-2b delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "translation initiation factor eIF2B subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2B4",
                    "type": "recommended"
                },
                {
                    "name": "EIF-2B",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B4",
                    "type": "synonym"
                },
                {
                    "name": "EIF2BD",
                    "type": "synonym"
                },
                {
                    "name": "EIF2Bdelta",
                    "type": "synonym"
                },
                {
                    "name": "EIF2B",
                    "type": "synonym"
                },
                {
                    "name": "VWM4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UI10-1",
            "evidence": [
                {
                    "id": "0060868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060868"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060868"
}